Bogey

100%, 80% of the time

2011-06-29T14:58:00.002-04:00

Potty training boot camp is in full force in our household. I had feared that this process would be painful, long, and drawn out. But two weeks in, and Haley is 100% potty trained…..80% of the time. How is that possible, you ask? Well, conditions have to be just right. As long as her pants are off, the potty is within sight (as of now, it resides in the living room), and we are at home she is 100% potty trained. We are now working on wearing “big girl pants” aka, underwear, and learning how to pull them up and down. She is also not willing to even attempt using the potty at school. But the progress she has made is phenomenal!!! I was envisioning having to still be potty training a 5 or 7 year old, so I’m EXTACTIC that she is even trying.

Haley has been a busy bee so far this summer. She has already made one trip to the beach with my parents and brother.

We also went on a family field trip last weekend to South Mountain State Park. Haley really enjoyed playing and throwing rocks in the creek. I see lots of hiking and (in the WAY future) camping in our future.

Haley has been playing in our pool some too this summer. Some days she is more interested in “swimming” than others. I was able to convince her to use water wings one day and she thoroughly enjoyed that and was actually “swimming” on her own. Other days she just prefers to sit on the step and splash around.

And in case you missed it on Facebook, I put together this short video several weeks ago of Haley playing, doing things we weren’t sure if or when she would ever do. She continues to amaze us everyday!

The JSRDF conference is right around the corner. We made the decision this year for just me to go. It’s a huge expense for the entire family to go. This year’s conference is in Orlando. It would have been an opportunity to spend some time at Disney World, but after spending 4 days at conference, it was just going to be too much on all of us to spend quality time at Disney World. Plus the thoughts of walking around in the July heat was less than thrilling, when Haley and I both do not tolerate the heat very well! We will go back when we can spend more time there and make it worth while. I‘m sad that Haley won’t get to meet and play with the other kids.

And I just realized that four years ago today, I took that first pregnancy test that Will and I argued over the results. Remember this one?

I still don’t see how he could think this was not a positive test!!!! You see it right????!!!! Four years ago today, we embarked on one of the biggest journey’s of our lives. Little did I know on that day how my life would change.

And 4 years later, we are welcoming a new life into this world. My best friend had a beautiful baby girl this morning. Congrats, she is beautiful!

The End of Another Era

2011-05-03T15:34:00.001-04:00

As I sit here folding the last load of cloth diaper laundry, I realize (yet again) that our little baby is growing up. I wish I was saying this was my last load because Haley finally decided to use the potty…..NOPE, she won’t have anything to do with it. Stubborn little girl she is! No, I feel like its time to say goodbye to my beloved cloth diapers. I have put my time in, finished my tour of duty, saved the landfill of my fair share of dirty diapers. Haley really is on the verge of potty training, its just her sheer will and determination keeping her from doing it. She is showing all the signs…..wakes up dry some mornings, goes longer periods of time between wet diapers, will tell me when she needs to poop and when she has, she just refuses to actually follow through with the final step of the process. GRRRRR!!!! It started to become a battle between how time consuming, cost effective and environmentally friendly is it to wash 3 or 4 diapers at a time vs. use 3 or 4 diapers a day????? 3 years 2 months and 2 days is LONG ENOUGH!!!! I refuse to feel guilty for tossing a disposable in the trash now!

In other news, Haley recently got a REAL hair cut!!!! She transformed from still resembling a little baby to a real toddler in a few snips!

Before

After

Easter was lots of fun this year. This is the first year that we felt like she could handle dyeing Easter eggs. She did really well, even got some of the dye on her hands without freaking out. Her sensory issues seems to be calming down some!

This was also the first year she was actually able to hunt for eggs unassisted. It was a very exciting moment!

Times…..they are a changin’!!!!!!

Smack!

2011-04-07T21:23:00.001-04:00

I know, I know…..I don’t update often enough. Honestly, I don’t feel our everyday life is update worthy. We have gotten into a pretty good groove and our everyday details seem too mundane to bore you all with. Although Haley does something new every single day, I just feel silly posting about a new little phrase she says or a new mannerism she’s picked up. Its all new and exciting to us, but seems a little boring for the general public.

I used to use this blog as a form of therapy when we first started going through our Joubert journey. It was cathartic to put my feelings on (virtual) paper and to be able to say things that my usual emotionally flat affect cannot express. I say things on here that I don’t say to the people who are closest to me, its just easier that way. As we began to get more and more used to the idea of not having a “normal” child and the shock of the diagnosis began to wear off, it didn’t feel quite so necessary to express my feelings. I have pondered on whether or not to wrap up this blog and stop the slow death it has been experiencing for the last year. I felt like I had a pretty good handle on life with a special needs child and really didn’t need to continue with my therapeutic blogging.

Recently I have gotten a lot of email from people who have a newly diagnosed child with Joubert Syndrome letting me know how much this blog has helped them learn about JS and cope with what real life is like with Joubert Syndrome. It makes me feel good to know that my little corner of the interwebs has helped someone. I am beginning to feel a calling to continue writing and write more frequently for that reason. If this blog helps just one person out there dealing with Joubert Syndrome not feel so alone, I have accomplished my mission.

I am also feeling a new need to write because underneath my tough exterior of being a strong mom who has fully learned to cope with the everyday battles a special needs child faces, there is a mom with chinks in her armor. Maybe I really do have something I need to say.

Haley has a relatively mild case of Joubert Syndrome, we thank God everyday for that. But this year has been particularly rough for the Joubert Syndrome family. We have lost several young lives due to complications of Joubert Syndrome…..it has been a difficult getting the news that yet another child has passed away. It feels like a piece of your soul is crushed when there is a JS death, because your child shares something so very rare in common with that child. I can not imagine what those families are experiencing. The Joubert family has also had a lot of hospital admissions and very very sick children. I sit on pins and needles waiting for updates on how the kids are doing. It has been difficult for me to sit here with my relatively healthy child while others are struggling every day. I sometimes feel an overwhelming sense of guilt that Haley has been so healthy, and at the same time I feel overwhelmingly blessed. Because of that guilt, I have have withdrawn from my Joubert family, maybe a sense of denial mixed with guilt….for that, I apologize for not reaching out to you all more!

It is also very easy to forget what “normal” is when you are not confronted with it on a regular basis. Sure, I see kids out in stores and in public acting and playing normally, but that is just in passing. I can easily ignore them. There are a lot of special needs children at Haley’s school, so abnormal is the norm there. I see these kids everyday, I know their names, I know a lot of their stories, they are “normal” to me. It is easy to push “normal” to the far corners of your mind but “normal” will sneak up on you and SMACK you in the face when you least expect it. Of all seemingly innocuous things, I was faced with “normal” last night while watching “Father of the Bride”. Thoughts were swirling in my mind. Will Haley go to college, will Haley ever get married, will Haley every play basketball, will Haley ever slide down the banister of our stairs? (we totally don’t have a banister, but that scene of Annie sliding down the banister made me wonder). Those thoughts then lead to, “how will Haley be treated by other children when she goes to school, will people make fun of her, how will she deal with that, how will WE deal with that?” Will Haley ever be or experience “normal”? She may look normal at first glance, but she still has a head tick, her speech is unintelligible to strangers, she can’t climb steps alone, she freaks out about things that most kids wouldn’t. It may sound overly critical to talk about what’s “abnormal” about her, but its just the facts. And with that I realize, I have not fully dealt with what it means to have a special needs child. I need this blog to continue to document our journey, to continue my understanding of life with a special needs child, and to continue my own personal healing.

I am also sitting here listening to Bill Maher argue about the use of the word “retard” as I type. That’s another discussion for another day. BTW, I officially HATE that word, please DON’T use it around me. I don’t care how you mean it, if you’re using as an adjective, if its just part of your everyday vocabulary, or if you think its absolutely ridiculous for people to be upset about “just a word”. It upsets me. Its not funny when your child with special needs falls under a word once used as medical definition but is now used as an demeaning adjective. I will step off the soap box now.

Thank you for sticking with me on this journey, I hope that I am able to resuscitate this blog to its former life of frequent posts full of mundane details, cute pictures, and cathartic blabbering! :)

Happy Birthday Pea Pod

2011-03-01T19:59:00.001-05:00

I don’t even know where to begin. These birthday posts get harder and harder every year! You have grown so much over the past year but it seems like yesterday that you were born. How is it possible that you are 3 years old? We are in awe of you every single day, you never fail to surprise us.

So what have you been doing this year? Where do I even start? We really should rename the “terrible twos” to the “hidden treasure twos”. We have had our fair share of tantrums, fits, and stubbornness, but you truly did not live up to the old stereotype of a terrible two year old. I would just say that you have become more assertive with your personality. You are very strong willed and definitely know what you do and do NOT like and are not afraid to let us know about it.

You have become quite the discriminatory eater, where you once ate whatever touched your plate, you now are much more cautious in what you put in that mouth. Your favorites right now are pancakes, pretty much any bread, cheese, apples, bananas, bean burritos, and pizza. Getting you to drink much of anything is a daily struggle, you just don’t like to drink.

We tried a lot of new activities this year, some you liked.

Some you did NOT. (notice you pitching a fit in the background at Carowinds)

You really enjoy going to museums, as long as the exhibits are not gigantic dinosaur models, or life size elephants, going to the park, playing by the pool, and just being silly.

One of your biggest accomplishments this year was learning to walk. Just a few weeks ago, you walked completely independently suddenly at Grandma’s house one night, trying to get you to play follow the leader. We were all so happy to see you finally walking by yourself. You seem to be much happier not to have to depend on us or a device to get to where you want to go. Life is also a little easier not having to carry you around, you are starting to get very heavy!

You have your own little way of communicating with us. You don’t have a huge vocabulary, but we manage to get by just fine. You know a little sign language, and have made up some of your own signs. You finally started saying “Mom”, one of the sweetest words I have ever heard. Some of the words you say are dog, cat, apple, bird, gone, snow, “paw”, da-da, NO, good, and bad all very clearly. Those are just a few. It seems like you pick up a new word everyday.

You still get a lot of therapy, but when you turned 3 the school system took over your therapy and you don’t get quite as much as you used to. We are kinda of glad to see you getting to spend more time in your regular classroom instead of being pulled out for therapy. Speaking of school, you really like school, and everyone at school thinks you are just the cutest and sweetest thing ever. You have the best teachers, Ms. Kim and Ms. Tabitha. They are so good to you, but they also don’t let you get away with your usual little antics!

You love to play and are very good at pretend play. You can be a very girly girl one minute playing with your dolls and playing dress up and then quite the tom boy the next minute playing with trains, cars, and dinosaurs. One of your new things to play with is your iPad. It’s amazing to watch you play with it. Its almost like you knew how to work it as soon as we took it out of the box. You are such a smart little girl and love to figure things out for yourself. You are also very fond of television. We probably let you watch too much of it. Some of your favorites shows are Dinosaur Train, Sid the Science Kid, and Mickey Mouse Clubhouse. You also like movies, Alice in Wonderland and Coraline are your favorites.

Potty training has been hit or miss. We bought some big girl underwear and you did ok for a few days, but then decided the potty just wasn’t for you yet. So we are still working on that. You’re not a huge fan of bath time either. You do NOT like to have your hair washed! You are still a pretty good sleeper though. You still go to bed around 7:30pm and get up at 7:30 am. You take a nap around 1:30 until 4. You have always enjoyed your sleep!!! We recently put up your big girl bed. You weren’t very happy about it the first couple of nights, but you are starting to warm up to it a little bit.

We can’t begin to tell you how much you mean to us. We may just be partial because you are ours, but you are a very special little kid and have taught us so much. We can’t believe how fast time has gone, we just turned around and you are now 3 years old. Keep growing and learning!

We love you!

Mom and Da

Moving On

2011-02-22T14:07:00.001-05:00

Yesterday was a graduation day of sorts for Haley. I met with the school system to discuss Haley’s IEP (Individualized Education Plan). I’ve always heard that the meeting itself is a stressful process, maybe for some it truly is, but it was pretty painless for me……for the most part.

The CDSA (Children’s Development Service Agency) has held our hands throughout the therapy process since Haley was 11 months old. They have been the number one most important resource for us in regards to Haley’s developmental treatment. They have made sure Haley was provided the therapies she needed, opened doors of opportunity for her and helped me navigate through the very confusing system of insurance and therapy providers. Saying goodbye to her case worker today was a lot harder than I thought it would be.

It was difficult to think that they have been with us from the very beginning, and now we are being turned over to a whole new system. I’m sure we will be taken well care of, but just like anything else, I do not deal well with change. I think back to what Haley was at 11 months old and what she is today and wonder how different things could have been without their help. We could have not known about all the wonderful programs she participates in and certainly would have a LOT more financial stress because of the high therapy costs.

This is also the last week she will have with her current therapists. Some of which she has been with for a long long time. She will be switched over to the school system teachers and therapists after she turns 3. I suppose this is something I should get used to, changing of teachers every year. But her current therapists have worked so hard and helped her come so far, it will be hard to see the changing of the guards.

But most of her new therapists, Haley already knows. You see, a lot of them already see other children at her school and they have called “dibs” on Haley a long time ago, and have told me so. Apparently Haley is a very popular little girl and a pleasure to work with. So she has seen them in her school, I’m sure she “knows” them and will be comfortable working with them.

I was pleased with the goals they made for her and the amount of therapy they offered. It is, of course, less than what was offered by the CDSA. She will still get an hour of speech therapy a week but all other therapies are cut in about 1/2. But I think that its time to back off a little from therapy anyway. Haley has been in INTENSE amounts of therapy for over 2 years now. I think its time for her to enjoy as normal as possible classroom experience for once. Some may disagree with me and say I should have fought for more therapy, but honestly…..I am FINE with what we were offered. We work hard with her at home, she will be ok. Another major difference is they follow the school calendar, so she will not get therapy when school is out, which will be weird.

If this transition process has been difficult for me to handle, I can’t even BEGIN to imagine the day that she has to leave her current school. I will be worse than my mom when I graduated high school LOL! But its all a part of growing up I suppose.

Our Story

2011-02-21T18:38:00.001-05:00

Here is our story as it appears in “Uncommon Challenges; Shared Journeys”. The book is for sale at Amazon.com, all proceeds of the book go to the charities each author has designated.

Mom on a Mission: Overcoming Struggles, Celebrating Milestones

“As parents of a child with a rare disease, we are her strongest advocates. We are often the ones to educate the doctors on her disorder, fight insurance companies to pay for therapies, and teach the world around us … how prevalent the rare disease community is as a whole.”

By Laura Buchanan

Three simple words changed our lives: “Molar Tooth Sign.”

Haley is our only child. She was born on Leap Day, unique from the very beginning, without complications. She was a happy and healthy baby. We had no reason to suspect she was anything but perfect. But as weeks turned into months, it became apparent that she was different than other babies. Haley was not doing the normal things that infants her age were doing. She wasn’t rolling over, couldn’t bounce up and down on my legs, and did not attempt to crawl. She also had some abnormal head movements and looked out of the corners of her eyes a lot. Our pediatrician assured us that she was fine and would catch up by the time she was 18 months old, that most first-time parents over analyze their baby’s behaviors and compare them too closely with their peers.

Shortly after her first Christmas, when she was 10 months old, she could not play with a “stand and cruise” toy she received as a present. She wanted to play with it so badly, but just could not do it. She could only sit there and look at it and cry helplessly. It was heartbreaking, and I had had enough. I took her to the pediatrician and insisted there was something wrong with her. To appease me, he reluctantly referred us to a physical therapist. The PT immediately recognized there was a problem with Haley. She was able to get the ball rolling with multiple therapists and specialists. I credit her with getting us started with finding the help and answers we needed.

The next few months were a whirlwind of doctor visits and therapy sessions. In the meantime, I feverishly scoured the Internet looking up Haley’s symptoms. I searched day and night for a possible diagnosis. In my research, I encountered many frightening diagnoses, but one disorder stuck with me and I filed it away in my subconscious, Joubert Syndrome, which is characterized by the “molar tooth sign” on MRI.

Haley had an MRI when she was 13 months old. I received a phone call the same day after her MRI for an appointment to meet with the doctor later that week. I knew then that we finally had an answer to all of our questions.

The neurologist sat down with us and started drawing a picture of a “normal” brain. Then he drew Haley’s brain. He was about to say “This is the molar tooth sign,” and I blurted out the phrase at the same time. He looked at me quizzically and asked if I had ever heard of it. He admitted he had not. I wondered how on earth a neurologist could not know about the neurological disorder my daughter had. This was his field of study after all! Little did I know, very few people have ever heard of Joubert Syndrome. Even some neurologists have never heard of it.

Joubert Syndrome most commonly affects a person’s gross and fine motor development, balance, coordination, eye movements, breathing patterns and speech, and also can affect the liver and kidneys. Involvement varies widely from very mild to severe. It is a recessive genetic disorder in which both parents carry the gene. Medical science offers no treatment or cure.

Haley is mildly affected. At 33 months old, she can walk about ten feet independently. She attends a “mainstream” preschool, loves to paint and draw, enjoys music and is a very happy child. She receives physical therapy twice a week, and occupational, speech, play, and visual therapy once a week. She continues to struggle with speech and some sensory issues.

Approximately 350 people in the US and 650 people worldwide are affected by Joubert Syndrome, which classifies it as a rare disease. When Haley was diagnosed, I became a M.O.M, a “mom on a mission”. As parents of a child with a rare disease, we are her strongest advocates. We are often the ones to educate the doctors on her disorder, fight insurance companies to pay for therapies, and teach the world around us what Joubert Syndrome is and how prevalent the rare disease community is as a whole. I do not hide Haley’s disorder, nor am I ashamed that she has special needs. I find it therapeutic to share our journey and our struggles with others and celebrate the smallest of milestones.

Laura, Will and Haley B.

We live in a small suburb outside of Charlotte, N.C. Will is a branch manager for a large swimming pool distribution company, and Laura is a home health nurse. We have been married for seven years. Haley is our first child, born in February 2008. We are actively involved in the Joubert Syndrome Foundation and started a fund raising campaign last year call “Jog for Joubert Syndrome.” (www.J4JS.blogspot.com)

“Our Story” was published!

2011-02-21T12:09:00.005-05:00

It would appear that I am a published “author” now…..as in, I have written something that is in an actual BOOK. Crazy! I was contacted back in November to write about our journey in dealing with rare disease and having a child with Joubert Syndrome. I was told the story would be published as with a compilation of other rare disease stories, and this would be part of a promotion by Siren Interactive to help raise awareness for rare disease.

So, I wrote up our humble little story and sent it off to the editor and didn’t think much more about it. I honestly thought this would be some little pamphlet type thing, nothing major. I had kind of forgotten about it until last week. I received a box from FedEx that had 10 copies of these very official and real looking books in it. Little professionally printed and bound books!! I was astounded to see my name listed as an “author”!!!

In the “more information” section there is a website listed press.sireninteractive.com where you can find out more about the book….and the authors (I blush as I type that!). You can also actually buy this book on Amazon.com. But I am proud of our little story. Check out the website when you get a chance. All the proceeds of the book will go towards the charities each of us authors have chosen….mine being the Joubert Syndrome and Related Disorders Foundation. I will try to post my (edited) story soon.

Miss Independent

2011-01-25T20:15:00.002-05:00

I always knew deep down that Haley would someday walk, and would do so independently. I knew she would walk without a cumbersome walker or holding out hands. But the uncertainty of how long she would be tethered to someone or something remained a mystery……an agonizing mystery.

She began taking independent steps several months ago, but still required us to be near by to hold her hand to go any significant distance. Today she has proven that she can walk independently wherever she wants to go. We have known that for a long time, I think she just lacked the confidence that she could actually do it. Her teachers at school have been telling us how much she walks at school, but this is the first that she has done this much walking at home.

We ate dinner at my mom and dad's house tonight and she just started walking a little farther and a little farther. Then she walked down the hall to her bedroom, then to the kitchen, then back to the living room. She continued to do this for over 30 minutes. Walking. Completely. INDEPENDENTLY. For. 30. Whole. Minutes!!!!!!

Here is a short video of her showing off her independent walking. The noise she is making is her imitation of a chicken….”bok, bok, bok”. I hope you enjoy it as much as we did tonight!!!!

Time Flies……

2011-01-04T13:39:00.001-05:00

……when you have a busy toddler. I was just looking back at the blog and was appalled that I have not posted in 2 MONTHS!!!!!!! Thanksgiving, Christmas, and New Year’s have come and gone. Hopefully I will be more diligent this year in updating on Haley’s progress.

So, what has she been doing? Her speech has really REALLY improved. She is saying more and more words, some of them very clearly, and even saying some 2 word phrases. Of course, true to toddler form, her favorite word is “no”, but she says a cute, high pitched “doh”. Its cute for now, but I’m sure the cuteness will fad soon. My mom got a really good video of her talking, but she is in the bathtub. I had thought about posting it here, but then decided against it….too many creep-o’s out there. Maybe I can get another video in a more modest setting LOL.

Speaking of the bathroom area, we are trying to up the emphasis on potty training. We take her to the potty every 2-3 hours to “try” to potty. Sometimes she goes willingly, other times we have to bribe her with her favorite treat, mints. She has not “produced” yet, but she is at least warming up to the routine. I put “big girl panties” on her for the first time yesterday and she promptly peed in them. At least I know she won’t tolerate being dirty. She immediately whined and cried to be changed.

She is becoming more and more mobile. We all totally think she could walk wherever she wants to, but either is too afraid to, or just chooses not to for some reason.

Christmas was very fun this year. I think she actually “got it” somewhat this year. She knows who Santa is and that he brings presents. Says ‘ho ho ho” every time she sees a Santa now. Her big present was a train table, which she absolutely LOVES. She could spend hours playing with it I think.

For those of you that I did not manage to get Christmas cards out to, I apologize….just ran out of time…but here is our belated card from our family to yours:

Well, those are pretty much the highlights over the past two months. I leave you with a few pictures….enjoy!

Three Day Halloween

2010-11-02T12:55:00.002-04:00

Toto…..we’re not in Kansas anymore!

Haley was “Dorothy” this year for Halloween. Although she has never seen The Wizard of Oz, and has no idea who Dorothy is, she chose her own outfit this year. While at Target, she gravitated towards the costume….it had to be the shoes! In fact, we had to hide them from her until Halloween because she kept wanting to wear them early.

We definitely got our money’s worth out of this years costume. We did Halloween celebrates on three different occasions last week. Needless to say, I am tired of red ruby slippers and attempts at braiding thin wispy hair!

Haley’s school had a Fall Festival with fun and games. She actually got in the bounce house, which I was super excited about!

And what school party is complete without a cookie-filled classroom party. There was fruit on the plate, but she chose cookies instead, which lead to lots of lots of crazy crawling on the floor and she eventually lost the shoes.

Saturday night, our little hometown had a “Trick or Treat on the Square”. For such a rinky dink little town, there was quite a turn out. She was more interested in collecting fallen leaves and acorns than the free candy….that’s my girl!!!!

Sunday we went on a road trip to my BFF’s little boy’s 3rd B-day party. We totally intended on dressing up for his party, but it was too hot and hectic.

Our last stop on the Halloween tour was to trick or treat in the neighborhood. Our original costume idea was for Haley to be Dorothy and Rhett (our German Shepherd) to be (and overgrown) Toto. Sadly, she (and me) were just worn out from the party and Rhett was being less than cooperative. We only made it to two houses….which was fine by me. I think we all were starting to come off our sugar high and getting grumpy….early bedtime for everyone!

Put That Girl to Work!

2010-10-19T16:16:00.001-04:00

In the olden days, isn’t the reason people had a dozen or so children was to have more help out on the farm?? Well, its high time that Haley start earning her keep in this household! She has been assigned the nightly task of feeding the animals (it kind of is a small farm in our house).

We taught her how to feed the animals several weeks ago. I have been meaning to post these pictures. She is very regimented about her chores too. She never forgets that it needs to be done and sometimes has to remind us its time to feed everyone.

Sadly, these pictures were taken 1 week before our youngest dog, Clyde, passed away suddenly. I don’t want to rehash the tragic event, it was horrific and traumatizing for me. We still don’t know what happened to him, he had a seizure one night and died the next day. Haley misses him, she points out the window and says “dog” then hold up two fingers as if to ask “why is there only 1 dog now”. She still insists on filling two tupperware bowls of food, one for Rhett, one for Clyde. How do you explain the death of a pet to a 2 year old….you can’t. Anyhow, that was depressing….on to the pictures.

She pushes her little desk chair to the food box in the pantry and gets two tupperware bowls of dog food

Then she pushes the chair and food to the door, we have to help her cross the threshold.

Then she puts the food in the bowl, she often has to push Rhett out of the way, that 28lb girl can hold her own with a 90lb German Shepherd!!

Then she puts the tupperware bowls back in the pantry and INSISTS she must close the door

Now time to feed the cats

Good Job!!!!

Little Betty Crocker

2010-10-13T18:36:00.001-04:00

Look who likes to help in the kitchen. Haley helped me make some pumpkin spice cookies today. Super easy recipe…if you can even call it a recipe with 2 ingredients! And a pretty healthy, low fat recipe too!!!

~1 can of pumpkin

~1 box of “spice cake” cake mix (no other ingredients, just the mix)

Mix together, put on a cookie sheet and bake at 350 for 10-15 minutes. Makes approx 2 dozen cookies….depending on how much batter your toddler eats prior to baking :)

Can it get any easier???? Little fluffy pumpkin pies that melt in your mouth!!!!

However, there was a misunderstanding when it was time to put the cookie dough onto the cookie sheet. It seems Haley felt like she should be allowed to eat the entire bowl of cookie dough, instead of actually baking it. Massive meltdown occurred, but was shortly resolved after she got a fresh baked pumpkin cookie….YUM-O!

News Flash

2010-09-15T19:36:00.001-04:00

We interrupt this irregularly scheduled blog for some breaking bathroom news. Earlier this evening, Haley was asked if she wanted to use the potty. Instead of the usual sitting on the potty unproductively for 10 minutes followed by standing to play at the bathtub and then urinating in the floor instead of the appropriate receptacle……Haley actually pee-pee’d in the potty!!! Yes, you heard it here first folks….Haley made pee-pee in the potty. Next up…poo-poo in the potty.

In related news, Haley will under-go her “three year old testing” tomorrow. She will be tested on several areas including (but not limited to) fine and gross motor skills, speech, cognitive learning and problem solving abilities. Although Haley is not, in fact, 3 years old yet, this is in preparation for the impending switch to the school system taking over Haley’s therapy needs. This testing will show where Haley falls compared to her peers, and help determine what and how much therapy she will receive in the near future. Haley will be phasing out of the state’s Infant-Toddler program once she turns 3 in February(the program responsible for assisting in coordinating Haley’s therapies and financial coverage for said therapies). When she turns 3 she will be moving on to the school system to handle her therapies. Hopefully Haley will continue to receive all her needed therapies and this transition will not decrease the amount of therapy she so desperately needs to continue to flourish. Stay tuned for most cutting edge and up-to-date news, here on Channel Bogey

First Haircut….2 1/2 Years Later

2010-08-31T21:09:00.001-04:00

Yes, you read that right…..we are just now getting around to getting Haley’s very FIRST haircut. She was blessed with a full head of hair from birth, which we have had to put in bows to tame pretty much from the very beginning. Everyone has been pressuring us to cut her hair forever now, and I just couldn’t do it. Cutting her hair somehow signifies she is no longer a baby. But at 2 1/2 it was getting a little out of control and ridiculous.

I was also so worried that it would be a sensory overloaded, drama and tear filled event for her. I was simply putting off making a huge scene at my hairdressers. As usual though, I don’t give her enough credit…..when will I learn!!!! She sat on the booster seat all by her self, like a BIG girl, and didn’t fuss one single bit the entire time. She actually acted as if nothing was going on. I guess she is so used to people playing with her hair that she didn’t even think twice about it. I’m really proud of her!

I didn’t want to do anything drastic, just a trim. She has such beautiful long hair that I couldn’t bear to cut it all off. You can’t even tell by the pictures that it has even been cut. But looking at her tonight after her bath, she somehow looks older, bigger, more grown up. What a difference a half inch of hair being cut off makes.

Before the big “chop” with her scraggly ends

Just playing with her toys like nothing is going on

Almost done!

I’m so pretty (notice my clip-on earrings!)

Gawking at myself in the mirror

Wordless Wednesday

2010-08-11T19:51:00.001-04:00

There are TONS of blogs out there that do a “Wordless Wednesday” post. I have never done it, but have the perfect opportunity today. Pretty self-explanatory, post pics….sans words. These pictures don’t need much explanation. It won’t be long!!!

Summer Fun

2010-08-09T16:09:00.001-04:00

Where is the Summer going….honestly….its August already!!!! Not that I’m complaining, I’m not a huge fan of the sweltering summer heat, but its just flying by. It will be Christmas time before we know it!

We got her her first tricycle a few weeks ago. She has moments when all she wants to do is ride, and others when she doesn’t want to look at it. She LOVES to wear the helmet though. I have actually had to resort to hiding it from her, otherwise she would never take it off!!!

Daddy trying to convince her to ride

”Ok, this is where the feet go”

And we’re off!

She is also starting to enjoy the swing set a little more.

We’ve been going to the museum a lot. She loves the fish!

Haley is doing FABULOUS. She has a new speech therapist and I’m not sure if its just coincidence or if the new therapist is making the difference, but Haley is just making progress by leaps and bounds. She is saying a handful of new words. She doesn’t speak them clearly, but we understand them. She is able to point to the correct numbers and letters when you ask her to identify them. She is walking holding on with just one hand now and continues to take a couple independent steps every now and then. It seems like she does something new everyday.

Haley’s Intro to Trail Running

2010-07-05T21:36:00.001-04:00

Well, not actually trail “running” per se, but Will wanted to go trail running and I needed a “recovery day” after running 12 miles yesterday so I opted to hike with Haley in the back pack while Will ran. We were a little hesitant and unsure of how Haley would tolerate the pack. We have only used it a handful of times and the last time we tried to use it it was a big fat FAIL. But we decided to be strong and try something new and push Haley a little bit past her comfort zone.

As we suspected she initially rejected the idea, but we strapped her in anyway, gave her a fig newton and sang her favorite songs “Itsy Bitsy Spider” and “Wheels on the Bus” and she calmed down within a few minutes. Will took off and left us quickly and Haley was a little skeptical of the woods once it got a little darker and thicker. I distracted her with more songs and asking her to play with my hair. Pretty soon she started pointing to trees and grabbing at leaves.

We got to the Lake Trail and started finding some interesting things. The geese got an enthusiastic “wow” from Haley and then a few “d, d, d” sounds…her version “duck”. We also came across some frogs jumping in the lake and a man fishing. She was starting to enjoy the ride.

Then Haley finally snagged a leaf and was counting the points on it, she thought that was pretty funny.

But shortly after she began to get antsy and wanting out. We made it about a mile and a half I’m guessing (about 30 minutes). We are really happy that she enjoyed herself not knowing what to expect with out first nature outing. Hopefully as she gets older we can instill in her a love for nature and one day turn her into a trail runner LOL.

More Fun Outings

2010-07-04T16:31:00.001-04:00

Haley and I met up with an old college bud of mine and her one year old daughter last week and went to the Discovery Place. I loved the Discovery Place as a kid and thought Haley might be getting to an age where she would enjoy some of the exhibits. We bought a membership from the Schiele Museum and it includes free admission to several other local museums.

I packed up Haley’s walker hoping that this would give her more freedom to move around the museum instead of being strapped in the stroller. I guess she equates the walker with therapy and she flat out refused to even consider using it. This left me either pushing her in the stroller or walking her myself while holding her hands. Thank goodness Andrea’s mom was with us and was able to be the stroller wrangler, thanks for your help!!!!!

The downstairs area is more nature type exhibits with aquariums and animal exhibits. We tried to watch a little show in the rainforest theater, but it really like a rainforest in there, complete with high humidity and heat, and we just couldn’t hang with two toddlers in there. Haley was very interested in the small fish aquariums, enjoying looking and trying to count the fish. But dern it, they kept moving making it very difficult to count all the fishies :) There was a small “touch and feel” tank. She was mostly interested in playing in the water, not so much interested in touching the fish.

Upstairs is geared more towards science and technology. There are lots of hands on activities, a little over our little kiddos heads though. Its very active and chaotic up there, and Haley enjoyed watching all the other kids play and run-a-muck. I think in a few years she will really be into this part of the museum, but for now it a little too “old'” for her.

I wish I had taken more pictures. Well, actually I didn’t even take these few, Andrea’s mom was photog mostly. We both had our hands full with our ADD children. I told Andrea after the outing that I wished we could have spent more time talking and catching up, but I guess that is what happens when you have busy toddlers.

I am starting to enjoy getting out and doing things like this with Haley. The fact that she really seems interested in these types of things helps make up for the fact that it is a little more difficult for us to get around. This non-independent walking stage is difficult to maneuver. She wants to walk so badly but can’t, can use her walker but won’t, it make it physically stressful for me to try to do it when we are out alone. We have to take a stroller but don’t have enough hands to walk her and push a stroller when she demands to be taken out. Its all a learning process that we will navigate through together.

Fun(ish) Outings

2010-06-17T15:39:00.001-04:00

Some friends and I decided to brave the heat and humidity (and three kids with fragile temperaments) and take our first trip to Carowinds last Friday. To say I was less than thrilled at the prospect of this trip is an understatement. I was very hesitant (actually dreading) to go not knowing how Haley would handle it. Haley has been doing fairly well with her sensory processing issues until just recently. I’m not sure if it is just typical toddler skepticism about new things but she is rejecting things that she once enjoyed, such as the water, our pool, having her hair washed, some foods, certain toys etc. And if you have been to Carowinds, you know that this is a place that will send you into sensory overload.

The day started out pretty good. I got Haley a new pair of shades, more just for decoration :) than anything, but she really took to them and wore them the ENTIRE day!!!

Our plan was to hit the kiddie rides first while waiting for the water park to open. I thought we could start off with a seemingly harmless ride…the carousel. Ummm, not so harmless in Haley’s eyes. She wouldn’t even think about riding the horses and once the ride started all heck broke loose. Once the ride was over she clapped and smiled as if to say “thank God its over”. So then we tried riding the train. Same thing, super traumatic experience, no amounts of singing “The Wheels on the Bus” calmed her.

So then we venture over to the water park. Haley was quite skeptical at first but then decided it was ok to wade into the water, and she proceeded to walk me all over the entire splash park several time. There were several little water spout, splash type things that Haley wanted to watch, but didn’t want to play with. Just observing them was enough entertainment for her. And watching the other kids slide down the slide was hilarious to her. She just squealed with excitement with each kid kerplunking into the pool.

Once we had had enough of the water we decided to go back out the the kiddie rides. Most of the rides I knew Haley would not tolerate so we just watched the other kids ride. She was perfectly content just watching, and the other big roller coaster were near us and she got a kick out of watching them zoom by.

Then I thought I would try one last time to get her to ride a ride. Wish I hadn’t even tried, it was just more than she or I could take. It was a dinky little boat ride, but it was a total disaster. Notice Haley screaming her head off in the picture, we are in the boat behind the “happy” people

She was so upset that we got off the ride before it even started…..party OVER!!!! We were all hot, exhausted and had had enough, so we packed up and went home.

The next day Will and I took Haley to the Schiele Museum. Its a local science and nature museum. We thought she would enjoy seeing the animal exhibits. For the most part she did enjoy this excursion. There were a few exhibits she did not appreciate like the giant T-Rex in the foyer or the a life size elephant display. She really enjoyed the monkeys.

There was also a random pirate exhibit which she was very cautious about (rightfully so, it was pirates after all LOL). She would shy away from all the pirate mannequins and was perfectly content to head back to the look at the dead stuffed animals again.

Nice depiction of hanging dead man:

Yo ho ho and and a bottle of ~~rum~~ milk

So lessoned learned from our few outings last weekend…..

STOP trying to push things on Haley that other “normal” kids are doing, she just isn’t ready for some things.
But at the same time, don’t NOT do things for fear she will freak out. Fear of failure has held me back most of my adult life, I don’t want to pass this attribute on to Haley.
Figure out the fine balance between trying new things and pushing new things. And face the fact that I will not always get this right.
Haley will let us know in her own way what she can and can not handle and don’t be disappointed when she can’t handle things, and just be overjoyed when she can.
Have FUN, enjoy this fleeting moment, she will not be a child forever.

HELLO?????

2010-06-07T15:43:00.006-04:00

Yes, I know…..I have totally been MIA. It has been crazy town here at the Buchanan household for the last few months. Still, NO excuse not to write a quick blog post or post some uber cute pictures of Haley. So what has been going on that has kept me from blogging about Haley you ask???? Well, we finally finished phase 3 of project “Backyard Oasis” It has been a ~~pain in my neck~~ labor of love for over 1 year now. The construction of a new retaining wall, patio extension and fireplace began just before Haley’s first birthday…..yeah, she is now almost 2 1/2!!!!! As always, nothing is as easy as it seems, but look at it now (except envision it with nice plush furniture, haven't gotten a picture since we got the furniture). Its such a nice place to sit back and relax, roast marshmallows and dry off by the fire. Even on a warm summers evening, a fire is nice (oxymoron, I know!!!)

I also just completed my first half MARATHON this past weekend. For those non-runners out there, that is 13.1 miles (or half the distance of a full marathon duh!!!) Why did I run 13.1 miles you ask??? Well, just to see if I could really, and although I’m not actively raising money for Jog for Joubert Syndrome, I’m still blogging about my training and doing a lot of “awareness raising” for JS which is equally important. I am toying with the idea of running a full marathon in October, I’m stoooopid, I know!!! If you are interested in reading my race report read {this} post on my training blog.

So, what has been going on with Haley???? I don’t really realize how much she is changing and accomplishing on a day-to-day basis. I get caught up in the daily grind and a few weeks pass and I turn around a realize how much she has changed right in front of my eyes. I really need to stop and take it all in!!! I don’t even know where to begin. Its the simple little things that really amaze me. She is saying a few “words” the funniest of which is “poop”. She learned the sign for it and will say “poop” and do the sign if you ask her if she has pooped. I thought it would be a great functional word when learning to potty train but she thinks it the most hilarious thing and says it whether she has to poop or not! She apparently loves potty humor. She also says “car” “Clyde” and “clock”. The letter of the week must have been “C'” last week. Grandma taught her how to sign “I love you” that is really cute!

She is also cruising a little bit along the furniture, getting braver and braver with that. She can pull herself up on to a low couch or chair, can get in and out of the pool (that she just started yesterday!) and has even taken several steps unassisted. She still looks like she is a drunken sailor and quite wobbly on her own, but she is sooooo close!!!! She doesn’t spend much time in her “go-go” which is her toy walker, because she gets very frustrated about not being able to get into small spaces. She also is getting very frustrated with her “real” walker because it won’t go backwards. We are really trying to encourage her to walk only holding one of our hands but she doesn’t like it. She will do it against her will at times

Speaking of frustration…..ughh, she is developing that classic “terrible twos” attitude. She wants what she wants NOW, and actually 5 minutes ago wouldn’t have been soon enough. She can turn that hissy fit off and on so quickly its scary!!!! There are times when she just lays on the floor on her belly and whines for 15 minutes or so……just because. I imagine a lot of her frustrations come from her poor communication (or our poor interpreting skills) I can’t begin to understand how frustrating it would be to live in a world where no one understood you.

She is also developing the palate of a two year old. Where she used to eat anything you put in front of her has now turned to ugly faces and lots of pushing plates and forks away and many uneaten meals. I try to resist the urge to offer different things until she finally gives approval to the 30th thing (which would probably be a cookie) I present to her. I try to stick firm to the belief that “you eat what we eat, if you don’t like it….I guess you won’t eat”. It may sound cruel, but kids will eventually eat when they are hungry even if its not the junk food they really want.

This year Haley does not seem to be very interested in the pool. So far she will only sit on the top step. She cries and shakes like a little leaf if you take her any farther. We have a Carowinds water park trip planned for this Friday and I’m just hoping that we don’t go and just sit under the umbrellas and watch everyone else play in the water because she is too overwhelmed to play. It is hard for me to go places like this with her because if we go and she is miserable it only reminds me that much more of how “different” she is. Its always a stab in the heart to watch kids do the things that she should be able to do if she didn’t have JS. But on the other hand, I can’t NOT try to do “normal” activities for fear that she won’t have a good time or she would never be exposed to anything. Its a catch 22. It just sucks that I have to risk spending a ton of money to just see if she will enjoy it.

Haley amazes us everyday with the things she just seems to know. She has a book that has unique animals in it and we hadn’t read that book in a while. I don’t even recall ever naming the animals for her like “koala” “iguana” “shark” but when I asked her to point those animals out she could….weird!!! She can also look at some of her number flash cards and see the number 3, for instance, and hold up the appropriate number of fingers. She is getting better at shapes, she will make a triangle with her fingers if you ask her what a triangle is. She points to her body parts and then points to the corresponding one on you, and even on some of her stuffed animals when asked. She is doing a lot of “pretend” play. She puts her babies in bed, covers them up, tries to dress them, gives them bottles. I’ve seen her on several occasions put the faces of two figurines together and make a kissing noise (adorable!!!) She is so smart, I can only imagine the things she could tell us if she could speak.

Well, I hadn’t intended for this to be a crazy long post, that's what I get for having such a time lapse in posting. Sorry about that. Take care!!!

Living with JS, a year later…..

2010-04-22T18:30:00.002-04:00

I have been meaning to write this post since last week. The one year anniversary of D-Day (diagnosis day) was April 17th. I guess I have been putting it off because the thought of re-living this last year, one of the hardest years of our lives, just exhausted me. I have put it off long enough.

I guess we should consider ourselves lucky. We got the diagnosis of JS fairly quickly within a month or so after being referred to a neurologist. I have heard countless stories of unknown or vague diagnoses. I have learned through the Children’s Rare Disease Network that some children go undiagnosed for years, some never knowing the cause of their problems. And because I do not deal well with the unknown, we were relieved in a sense to have an answer.

We are also incredibly lucky because Haley’s condition is pretty mild. On one hand we are thankful, but on the other hand we carry a sense of guilt for those who are more severely affected. I have been told time and time again by other parents with JS not to feel guilty to just be thankful, but we still can’t help but have this emotion.

I have learned so much about JS and developmental delays over the past year, more than I ever cared to know. I feel like I have become a personal spokesperson for rare disease, for JS, for developmental delays, etc. We are constantly wearing our JS shirts and bracelets and take every opportunity to tell complete strangers about JS. Some people often look at me like I am crazy for being so open and honest about it. But it really does help me cope. I detest the stares and hate even more the complete avoidance of eye contact from strangers when they notice Haley’s head ticks or see her in public with her walker. People don’t know that being curious is alright, it gives me the opportunity to educate and raise awareness. We have learned to let the flat out rude comments and the otherwise innocent but insensitive ones roll off our backs. We realize that people just don’t know what to say and often say the wrong thing.

We have met so many wonderful people over the past year. We attended the JSF conference last July in Cincinnati. That was the best thing we ever did!!! And we are already looking forward to the next conference next July in Orlando (can you say “good excuse for family vacation!!!”). I have also “met” a lot of other people through the foundation through Facebook, and cannot wait to meet them in person. I think of the Joubert family as my extended family, it is such a wonderful support network!!!!

We have gone through the gamut of grieving emotions since D-day. Why did we grieve you ask? Well, as cold as it seems to say, no one goes into parenthood thinking they will have a special needs child, no one hopes for it. You only hope for the perfect child. And when you don’t have the so-called “perfect child” you do have to go through a grieving process because things aren’t going to go the way you planned. I know every person reading this who has a special needs child knows what I am talking about. Its the dirty little secret no one wants to talk about. Having a special needs child totally redefines what normal means to you. It is not to say that we don’t love our children just the way they are or want them to be something they are not, but we are all traveling a different path than we thought we would. (see this post for a poem that perfectly descibes this).

Haley has done exceptionally well this year. She has developed by leaps and bounds. Going from a totally non-mobile, totally unable to handle sensory overload to being on the verge of walking and handling sensory input much much better. She still has a long way to go. She is still not really talking, still has physical therapy twice a week, and occupational therapy, speech therapy, visual therapy, and play therapy all once a week and still uses a walker to walk. But she is otherwise a typical toddler, with typical mood swings, loves to play, and very affectionate. She has a wonderful sense of humor also.

The unknowns of JS are what bothered us the most when she was first diagnosed. Not knowing if she will ever walk or talk, what will her cognitive function be, will she ever develop the other complications associated with JS? Her development has given us a lot of encouragement. She continues to new things everyday and meeting her milestones slowly but surely. She is as smart as a whip and, so far, cognitively appropriate for her age. We made a visit to the NIH in Maryland this past December to study her kidneys and liver and they don’t think she is at any increased risk for the complications that can sometimes occur, but want us to continue to monitor that yearly. So the unknown, although it still drives us nuts to think about….we do not dwell on it like we initially did.

All in all I think we have dealt well with this diagnosis. I think being such outspoken advocates for Haley and for the JSF is therapeutic for us. We also have very strong support from our families and friends. Without you guys, we would be lost!

Loving the Spring Weather!

2010-03-15T17:36:00.002-04:00

Spring fever has hit us big time!!!! We went to the park for the first time in a loonnnnng time a few weeks ago and I forgot to post the pictures. Haley is always a little skeptical when we first get to the park, a little overwhelmed by all the other kids running around like wild banshees and all the big equipment, but she eventually warms up to it and plays.

We also had a chili fund raiser at Chapel Hill last weekend, full report of my running blog {Here}. We were exhausted but it was a lot of fun and we had a pretty good turnout. We raised a total of $1178 so far, a few donations are still trickling in, but overall I think we were pretty successful.

2 Year Stats

2010-03-05T07:08:00.005-05:00

Haley had her 2 year pediatrician appointment earlier this week and she is growing like a WEED! I can't remember the exact numbers (I should write these things down). She weighed almost 27 lbs I beleive, which is little over the 50th percentile and she had a pretty big height growth spurt and is now in the 75th percentile. She has always been below the 50th percentile for both height and weight, sometimes closer to 25th, so she really made a big leap at this appointment.

The doctor was pleased with how she is doing and the progress she is making. He talked to me a little about potty training. And although it is still early to expect her to fully potty train, he told me to go ahead and start introducing it. He said that we should not let the fact that she doesn't speak and can not walk hold her back from at least introducing potty training. We got her a potty for her birthday, but haven't really done anything with it yet. From what I hear potty training is a pain in the butt for the parents (no pun intended) to not be in any rush, so I will just let Haley tell us when she is ready.

Not much else to report, but I did want to leave you with some new pictures. There are a ton more on the Picasa album (the link is on the right side of this page). Enjoy!

Haley on her potty

At the Build-a-Bear party

Random cuteness

Happy 2nd Birthday My Sweet Baby Girl

2010-03-01T00:01:00.001-05:00

Two years have come and gone. There is no truer statement than "they grow up so fast". This has been especially true this year. You have been through so much this year, more than some people have to endure in a lifetime. You have shown us the true meaning of perseverance, strength, patience, faith and love. But this year has also been much more than about your "differences". We refuse to let your difference define who you are.

You are coming in to your own and changing so much everyday. You have a huge personality. You are so silly and witty, even at just 2 years old. You have the greatest sense of humor. Your laugh is the best sound on earth, and its the most unique laugh. Although you do not speak true words yet, you certainly do know how to communicate and are very good and telling us what you do and do NOT want. You can be very opinionated in your own little way. It is hard to sometimes remember that although you can't talk to us, that you understand every single thing we are saying and can comprehend its meaning.

You are generally a calm and even tempered kid, although sometimes it does not feel that way. Parenthood is difficult and sometimes our patience wears thin and we have to remind ourselves that you really are an easy baby compared to others. You enjoy playing and can entertain yourself for hours. You love animals. Your puppies and kitties are some of your best friends. Playing with baby dolls and dollhouses is also something you enjoy doing. Jewelry has also become something that fascinates you, I have to hide my rings and necklaces from you sometimes! You like to play outside and it has been a really rough Winter, we have not been able to go out much and that does not make you happy. We are going to get you a swing set for your birthday so there will always be somewhere to swing and slide and play outside! We hope to be able to teach you how to swim this Summer, you really enjoy the pool.

You have always slept well at night and for the most part still do. For a brief time when you had your first ear infections, you did not want to lay down to sleep and kept sitting up in your bed at night. You go to sleep easily around 7:30 and sleep solid through the night, that is a great blessing!!!! Naps are starting to become sporadic though and we are afraid they will soon become a thing of the past, another sign that you are growing up!

You started going to preschool earlier this year, a special school where there are others with "differences" just like you. Your teachers are very special and care very much for you. You have made lots of friends and really enjoy going to school. Some days when we pick you up, we think you would rather stay there and play with your friends than come home and take a nap. You now have all your therapies at school. You have been using a walker to get around for a couple months, but much prefer crawling...its so much faster right now. But one day you will get the hang of walking and will no longer be held back by the limitations of your walker.

You are a very smart little girl too. You are starting to learn some of your colors and shapes. You can point to several parts of your body. You are the biggest copy-cat too, and really enjoy copying everything your Daddy does. Puzzles and shape sorters have become old hat to you and not very challenging. You are very analytical at times and we can just see the little wheels in your mind at work when you are trying to figure something out. We can only imagine what is going on in your mind if it could only come out!

Eating has become a struggle lately. You are not a picky eater, but it is hard to figure out what it is that you want to eat some days. And you must be the only child in America that does not much care for peanut butter and jelly sandwiches. Some of your favorite foods are bean burritos, blueberries, waffles, tuna, and slaw. You have very strange tastes, just like your Daddy!

You are simply the most beautiful little girl we have ever our laid eyes on, and have always thought so (and we am not just saying that because we are your parents). We can't go anywhere without at least one person stopping to admire how cute you are. Your hair is so long and pretty, we have still yet to cut it, we can't bear to cut it yet. And your big brown eyes could melt the coldest heart. You are going to be a heartbreaker! Mama has been horrible, horrible, horrible about not taking enough pictures this year and she will try harder this year to take as many pictures as she can of your sweet face!

And you are so very sweet at times. For a while you were giving out kisses like they were going out of style. Kiss and hug everybody! But now you have become more conservative with them, kisses are not free anymore. You love to cuddle your stuffed animals and will hug and pat them on the back. Blowing kisses is something you are very good at and do all the time.

Physically you are growing so big too. Although you still look kind of tiny, you are deceptively heavy. Picking you up is sometimes a struggle, you are very "solid" even if you are only 27ish pounds. You still have the tiniest feet, only wearing a size 4, when most kids your age are in at least a 6 or 7. You are starting to wear some size 24 month clothes, but mostly still fit in most size 18 month. Packing up the clothes you have grown out of is something that is hard for Mama to do, it reminds her of how tiny you used to be. You came in to this world at 7 pounds and now you are 20 pounds heavier, it is hard to believe!

It seems like just a blink of an eye ago that you were born, when we first met you and our lives as we knew it changed forever. That was the best day of our lives! You are such a joy and a blessing, and we love you so very much.

Love,

Your MaMa and DaDa

Haley in the News.....Again

2010-02-05T21:38:00.005-05:00

Haley is becoming such a little celebrity and poster child for the special needs community isn't she??? Here in NC, rumors have been circulating that the state may cut funding to one of the therapies that Haley receives called "Community Based Rehabilative Services" (CBRS) a fancy term for "play therapy". Play therapy may not sound like a skilled, nitty gritty, beneficial type of therapy like physical or speech therapy, and I had my doubts when she first started CBRS. I mean, why does someone need therapy to learn how to play? But once Haley started CBRS, we saw a very significant turn around in her behavior. She had been receiving PT and OT for a couple months before she began CBRS and she was making some progress, but she continued to have a lot of heavy duty sensory issues (not wanting to be touched, having trouble transitioning to different situations, trouble in social situations, etc). Once CBRS started, it was like a lightbulb lit up in her. I think Haley is so receptive to CBRS because it is playtime to her, not work time. CBRS is much less structured than PT or OT, it is more child directed therapy. Her therapist works with her on many of the same goals that her other therapists do, but if she is putting up a lot of resistance to a certain activity, then the the therapist moves on to something else. I think the goal is to have fun and work on specific goals while doing so. Also her therapist, Alicia, is just great with Haley. She has such a gentle way with her and Haley is very receptive to her. CBRS seems to bring in parts of all the therapies and integrates them into a more holistic treatment for Haley. I think it helps her process what she has learned from PT, OT and ST and bring it all together so she can use her skills in a real-life situation.

The director of Haley's school asked me if I would speak with the Gaston Gazette about what CBRS means for Haley and how it has helped her. I talked with the reporter for 10 or 15 minutes and I thought I had given her a lot of useful information that would make a very strong article that would have a lot of impact. I had hoped my interview would have had more substance, but I just feel like the article is lacking the full meaning of what the program is all about, how it helps our kids, what it would mean to loose it, etc. I had hoped it would be a more in depth article, but I guess this was better than nothing. There is a little bit of misinformation, but basically correct. It only mentions Medicaid as a payor source. This affects more than just families who have Medicaid.....as we (unfortunatly) do not qualify for Medicaid. Anyway, here is the article from the Gaston Gazette which will be published Saturday, February 6th.

Parents worried about cuts in funding for special needs children

(Photo Mike Hensdill/The Gaston Gazette) At Bethlehem Family Life Center, kids with special abilities are helped to develop and grow. Here, CBRS therapist Alicia Starr works with Haley Buchanan using play therapy.

February 05, 2010 3:25 PM

Amanda Memrick

Haley Buchanan is about to turn 2, can crawl and is on the verge of walking.

But her mother Laura Buchanan said mastering her motor skills wouldn’t be possible without the help of community based rehabilitative services she receives.

Medicaid pays for community based rehabilitative services, which serves children up to age 3.

A glitch in the state plan’s wording means Medicaid may not pay for community based rehabilitative services as of June 30, said Brad Deen, spokesman for the Department of Health and Human Services.

The department is working with the federal Medicaid authority and the state’s own public health officials to change the wording so services don’t stop and Medicaid still pays, Deen said.

Haley was a little more than a year old when she was diagnosed with Joubert Syndrome, a rare genetic disorder, Buchanan said.

Haley receives “play therapy” to bring in physical, occupational, and speech therapy together, Buchanan said.

“It would be really sad to see those services go away because it helps her so much with her sensory issues,” Buchanan said.

Andee Jenkins’ son was born seven weeks premature.

She learned Ayden was behind developmentally after a trip to the pediatrician, who referred them to the Children’s Developmental Services Agencies, then to community based rehabilitative services.

“Me being a new parent, I would have had no idea what to do,” Jenkins said. “It’s truly been a blessing for us. If that was not there I don’t know how we would have gotten him up to speed.”

The Arc of Gaston County Director Sara Osborne said if this service stops, it could cause a backlog once children turn 3. A developmental disability isn’t something that will go away.

“When you’re diagnosed with Down syndrome, you’ve got it,” Osborne said. “It’s not a maybe.”

Osborne estimates that at least 400 children in Gaston County have a developmental disability.

Michele Stewart has operated Special Kare for Special Kids, a facility that serves children with developmental disabilities as well as those who have no developmental issues, since 1995.

The school operated without those funds for 10 years, but the community based rehabilitative services money has helped a lot of families pay for therapies given by Special Kare staff, Stewart said.

Deen said that some misinformation about the issue has been circulating. The potential pay halt is not because of budget constraints, he said.

“This is a paperwork problem and we’re working around it,” Deen said. “These are actually some very beneficial services. We don’t want them to end.”

Haley and Ayden’s parents, along with those who work with developmentally disabled children, don’t want that either.

“Your child is supposed to be born perfect,” Stewart said. “I can’t imagine getting out there alone.”

“You can reach Amanda Memrick at 704-869-1839.

My How Far She Has Come!

2010-02-03T16:24:00.004-05:00

Wow, I am a really bad bloggy mama!!! It has been since Christmas since I have written an actual update. The last one wasn't much of a blog, so that doesn't count. I have been very very busy with Jog for Joubert and with running in general, add that with working, and chasing a toddler and things like blogging get pushed to the wayside.

At any rate, we had our 6 month review with Haley's case worker with the Early Intervention program yesterday. We just went over her goals to see what goals she has met and make up new goals for the next 6 months. It has been almost 1 year to the date that we first got involved with the Early Intervention program and little over a year since we started therapy. Sitting down with her case worker and going through her old goals really shocked me to realize how much progress she has made since this time last year. I mean, its not like I didn't think she was progressing, but to look back at where she was and compare it to where she is now, it was breath taking!!!!

This time last year Haley could not even hold on to our hands with enough strength for us to pull her up from a laying to sitting position. Let me repeat......could not even hold our hands so that we could pull her up!!!! At almost 1 year old, she could not roll, change positions, crawl, stand....she pretty much just sat (or laid) where ever you put her. Today she is crawling all over the place, rolls like a mad-woman, can get her self in to pretty much any position she wants, has almost perfected pulling up to standing by herself, walks with the assistance of a walker, and PT has even reported a few independent steps....although I have not witnessed this with my own eyes. There used to be days where I wondered if we would ever see the day that she rolled over, now she is on the verge of walking. It is amazing!!!! Her fine motor skills are just awesome, maybe even a little advanced for her age. Talking, now that is still very delayed. I have yet to hear her say a real word. One of her therapists, Miss Alicia, tells me week after week about all the words she says. I don't doubt this for one second, she just hasn't said anything for us. Haley really likes Miss Alicia, so maybe she is more talkative for her. (and if you are reading this Alicia....you're the BEST, you rock!!!!!) Also I think that I expect to hear words pronounced correctly instead of baby jabber. I have yet to receive my baby language decoder ring in the mail, so maybe once that arrives, I will be better able to understand "Haley Language" LOL!!!! I'm sure language recognition in first time parents is often the reason we think there is a speech delay, we just don't get it. Her sensory processing issues have improved a lot also. Last year, you could barely touch her arm and she would recoil.....that is called tactile defensiveness. She also had a lot of trouble with motion changes and fear of falling. Both of those are much better, but she still does have trouble with certain textures....HATES (almost terrified) of stickers, which is unfortunate because a friend sent us something for a sticker club, now we have tons of stickers and can't use them.....YET!!! She also is not a fan of Play-Doh. But these are all things that we are working on.

On a very silly note, Haley is a total copy cat and will mimic most anything we do.....so we thought it would be funny to teach her to do a "fist bump"....you know just in case she meets Barack Obama she can greet him appropriately. (LOL that one was for you Daddy). Its her new favorite thing to do.

I can't remember what all of our new goals entail. A lot of focus will be put on speech and language. Of course, gross motor wise, walking is our goal. And with cognitive and fine motor skills we are going to be working on typical things other youngsters her age are doing....shapes, colors, etc.

I still have my days where the amount of work that goes into having a special needs child is almost overwhelming, lots of days where I moan and groan "why us" and almost mourning over the "normal" child we expected. It is often hard for me to be around my friends with "normal" children Haley's age....seeing what she "should" be doing. And it is almost maddening when people tell me maybe it is a blessing that Haley is delayed.....at least I don't have to chase her around everywhere. I have come to realize people say this because they don't know what to say, they mean well, but really????? I imagine there will be things like this we will have to endure and deal with for a long time. Although life took a different path than we anticipated, we do not regret anything, nor would we change it. It is what it is.

I'm so sorry I don't have any pictures to post right now. Along with blog neglect, I should be charged with failure to take enough pictures. How many years of blogger jail time does that get me??? This time last year my obsession was photography....couldn't get enough of it, my family and friends were literally sick of hearing about it. Now (20lbs lighter I might add!!!!) my obsession is running, but I promise, I will get some pictures up ASAP!!!!

Speaking of running, please visit my Jog for Joubert Syndrome blog and support my cause. There is information about J4JS on the right side of the blog and several links you may want to visit. I am hosting a raffle for a "runner's gift basket" on that blog sometime soon, even if you are not a runner, there are some great goodies in there for everyone. Thanks!!!!!

Haley in the News

2010-01-14T15:41:00.003-05:00

I had almost forgotten about the reporters while we were at the NIH then one of Will's customers called today to tell him he saw him and Haley in the USA Today. Here is an excerpt of the article. Click here for the full story.



Will Buchanan watches as his daughter Haley, 21 months, pets Viola, a therapy dog, at Children's Inn at the National Institutes of Health. Haley is being treated at NIH for Joubert Syndrome.

A golden Labrador is a treasure for this child and her family

BETHESDA, Md. — Will Buchanan walks several steps behind his toddler at the Children's Inn at the National Institutes of Health.

Getting around is challenging for 22-month-old Haley. She has Joubert syndrome, a disease that affects balance and muscle coordination. She uses a tiny walker and wears a harness, which her dad is holding to keep her upright.

Suddenly they both smile. A big yellow dog lying in the hallway is wagging its tail at Haley. Ever so gently, her dad guides Haley to the floor to sit beside the dog. And ever so gently, Haley reaches out for the dog's muzzle. "Dog," she says. The dog stretches out a paw and touches Haley's leg.

"We have two German shepherds at home (in Dallas, N.C.), so she's really happy to see this dog," says Haley's mother, Laura Buchanan. "This makes it easier for us."

Viola, a golden Labrador, belongs to the Children's Inn, a private, non-profit residence on the NIH campus where families whose chronically ill children are being treated at NIH can stay. Mars Inc. donated Vi to the inn in 2008 after she was retired as a Seeing Eye dog. The kids can spend time alone with Vi and attend special activities with her.

"Having a dog here helps the children relax, feel more at home, and makes their treatments more bearable," says Meredith Carlson Daly, media relations coordinator at the inn. "There have been many studies done showing how beneficial animal therapy can be. We see those benefits here every day."

Merry Christmas and Happy New Year

2009-12-27T20:27:00.005-05:00

Sorry for the delay in posting some Christmas pictures, its been a busy couple of days.....I need a break!!!! So I will make this short and sweet with just these few words and a couple of pics. Enjoy!!! (More pictures are on Picasa....follow the link on the right hand side of this page)

Sigh of Relief (NIH Day 4)

2009-12-17T13:32:00.003-05:00

We just wrapped up with Dr Gunay and we are pleased to say that other than the very mild abnormalities on her liver ultrasound, Haley seems to be in great shape. Her kidneys look perfect on ultrasound, all of her lab work came back great, and for now there are no plans for us to return to the NIH for any further treatment or studies. A huge sigh of relief!!! Dr Gunay said that what they saw on the liver ultrasound was not significant enough to do anything extra for. She will have to have yearly ultrasounds and labwork, but she would have had to have that anyway for the minimum monitoring for JS. I am so glad we came here, it put our minds at ease because the kidney complications seen with JS can be very serious. Of course they cannot guarantee that she will never have kidney or liver problems, but with the data they have on Haley and based on their case studies they feel that her chances are minimal.

Right now we are waiting to go to the airport, our flight does not leave until later tonight, so we still have a long boring day ahead of us. In case you missed it, here is the link to the Santa story from last night. Haley is not on it....oh well!!

Limbo (NIH Day 3)

2009-12-16T20:59:00.006-05:00

Another long exhausting day is over. It started off with a bang with Haley having blood drawn, which, as you would expect, was not a good way to start the day, but she did very well and seemed to forget all about the torture within a few minutes. But she didn't get much downtime after the labs. We went directly over to radiology to have a liver and kidney ultrasound. It took both Will and I to hold her down to get this done. It is not at all painful, but she has this thing about not wanting to show her belly. What can I say, she is modest, I like that!!!

See, I recover quickly!

Daddy and I checking out the Cookie Monster gingerbread house

That was all for the morning time, and we all came back to the Inn took a nap. After lunch she had an echocardiogram (an ultrasound of the heart). She did surprisingly well with this which was essentially the same procedure as the abdominal ultrasound, just a few inches about her belly though. I'm not sure what the difference was other than she wasn't poked with a needle 10 mintues prior to this ultrasound like she was for the earlier ultrasound. Then we met briefly with a nutritionist, and she was very pleased with Haley's diet. Didn't really have much to offer with advice on how to make her diet any better, which made me feel pretty good about the job we do feeding her nutritious food. Haley has always eaten just about anything we put in front of her, but lately it has become a struggle with typical toddler picky behavior so I've been worried about how well I actually am feeding her.

Then we met with Dr Heller, a gastrointestinal doctor who studies the liver complications associated with JS and the other ciliopathies called portal hypertension and congenital hepatic fibrosis. I won't bore you with the explanations of what those are....google it if you are interested. I really wasn't expecting much out of his visit, but it turned out to be a very informative visit and a wake up call to not be so nonchalant about possible liver complications in the future. He said that Haley's liver and spleen were slightly abnormal on ultrasound. He said that the texture of her liver was abnormal but could not tell if it was true scarring associated with congenital hepatic fibrosis. Her spleen was also slightly enlarged. He said that at this point to not worry too much about it because all of her lab work was fabulous, actually better than the average JS patient that they see. He suggested that she just be followed yearly with ultrasounds and lab work. At first hearing her ultrasound was abnormal scared the bejesus out of us, but by the end of our meeting he made us feel a lot better, all we can do is keep a close eye on her and if she does develop liver problems she will be in good hands. But even though we were told not to worry, we still feel like we are in limbo waiting for the other shoe to drop.

Once we got back from the hospital we had yet another fun surprise waiting for us. The Montgomery County Police Motorcycle Units came to visit the Inn. About 30 or so cops on motorcycles came roaring through the front gates of the NIH with their lights and sirens blaring.....and guess who else was riding a motorcycle.....well, Santa of course!!!! This time we were prepared with a camera for Santa's visits, but for the third time Haley rejected Santa. Fox News was there filming. Here is a link to the story they ran, Haley wasn't in it but it shows what they did for the Inn.

Do you have a license to drive that walker young lady?

Santa upgraded his sleigh

Third strike with Santa

Playing with Viola again

We will be leaving tomorrow, and will be so ready to get back home!! Although the Children's Inn and everyone at the NIH has been wonderful, there really is no place like home. Tomorrow Will and I have to have blood drawn and then we meet with Dr Gunay for the final reports and wrap up. I assume we will talk about any need to follow up here with them and what our next steps are.

Another Long Day (NIH Day 2)

2009-12-15T19:33:00.005-05:00

Whewww....we are just getting settled in for the night, we had a pretty busy day today. We met with Dr Gunay and her nurse Joy this morning and they got a complete medical history on Haley and attempted to do an exam. Haley let Dr Gunay know right off the bat she was in no mood to be messed with today, so the doctor didn't push it. That is one of the good things about particiapting in a study, it is completely voluntary you can choose at any time to stop if you feel like you have had enough and the doctors and nurses don't keep pushing something that is obviously not working.

Our next stop was the opthamologist. Because retinal dystrophy is related to JS, they wanted a complete and thorough eye exam done. Haley's vision is normal for her age, there are no signs of retinal dystrophy and they agree that she has ocular motor apraxia. But the opthamologist did point out a new finding today with an abnormality with one of her eye muscles which may or may not be related to JS. Basically one of her eye muscles are lazy and she tilts her head to correct her vision. He said it was nothing to worry about and is actually pretty common, lots of people walk around with it and never know it. It can be corrected with surgery, which he did not recommend right now since it didn't seem to be causing her any problems.

Then Haley managed to catch a quick nap and when we got back to the hospital guess who was waiting on her......Santa Claus....AGAIN!!!! This time his helpers were three Washington Redskins Cheerleaders. Of course we left the camera in the room, but there wasn't much of a photo opp....she refused to even look at him again. And of course she got more gifts from Santa. They really are too good to us!!!

After that Haley had to have an EEG (electroencephalograph) to study her brain waves because JS is linked to seizure activity (which she does not have a history of). I just knew this was going to be difficult, but the tech, Jackie, knew exactly how to handle Haley.....this wasn't her first rodeo!!! She somehow managed to hook 23 leads to Haley's head. It took about 20 minutes to get set up, she had to measure and mark on her scalp, clean each individual lead location, then apply and tape each lead down then wrap her head in gauze to keep her from yanking them out. She played some corny kids video for her and let her play with some toys while she was getting her set up. Haley struggled with her a little bit, but in the end Haley knew Jackie would win this fight. We haven't gotten results from that yet.

That was our last appointment for the day so we decided to reward Haley with a visit with the resident therapy dog at the Inn named Viola. Viola lives here at the Inn and is a 6 year old yellow lab. Very sweet dog and I think it made Haley's day. As soon as she saw her she lit up. And when Viola left the room Haley stalked her all over the building. There also happened to be some reporters from USA Today there taking pictures and of course they couldn't resist taking pictures of Haley with Viola. I'm not sure what their article will be about but they said they would probably publish it sometime in January and would contact us to let us know when it was coming out.

Tomorrow looks to be another busy day. First she has to have some blood drawn, this is what I have been dreading. I hate having her blood drawn, its a huge ordeal. Then she will have an ultrasound of her liver and kidneys then an echocardiogram. Then after nap time we meet with a nutritionist and the GI doctors. I'm tired already!!! Better get in bed!!! Good nite.

Haley Meets Santa.....sorta (NIH Day 1)

2009-12-14T20:11:00.004-05:00

Wow!!!! Two blogs in one night!!!! But we had a great night, and I had some downtime to tell you about it. Haley took a good long nap until about 5pm and we decided to go walk around and we stumbled upon a little Christmas party they were having for the kids. The Ritz Carlton put on a wonderful "Polar Express" event for the kids and families tonight. They served grilled cheese sandwiches and soup. Santa and his helpers were there greeting families, taking pictures, and passing out gift bags. Haley got a cuddly stuffed lion and some little toys in her bag and we got a picture album and leather luggage tag in ours. Too bad we left the room without our camera, we missed out of some great pictures. Haley did not want ANYTHING to do with Santa, but there was a big bear there that she was very interested in. It was a pretty nice thing they did for the Children's Inn. There were several people there from the Ritz Carlton there volunteering their time to work the event and talk with the families and kids. One guy said it was just their way to help these kids that are here going through hell have a chance to have some normalcy. You could tell they were really here out of the kindness in their hearts, not just to get in volunteer time.

After dinner we went to the toddler play room....WOWWWWW I wish we had a play room like this at home!!! She played for ever in there, and did not want to leave. I'm sure we will be spending lots of free time in there.

There is not much to do however once Haley's bedtime rolls around....hence the second blog in one day. Right now Will is downstairs in the gym while I stay up here with Haley. I hope I can get down there and run at some point this week, but I am temporarily sidelined by another pesky cold....thanks daycare germs!!!!!

See you again tomorrow!

What a Stressful Day!!!! (NIH Day 1)

2009-12-14T16:12:00.004-05:00

Man, are we beat!!!! This week is the long anticipated NIH trip for the kidney/liver study. In case you don't remember....short recap....at the JSF conference back in July some doctors from the NIH were there who are studying what are called ciliopathies. JS is believed to be a cliopathy which may be the root of the kidney and liver failure that is sometimes related with JS. At the conference they invited people with JS to come to Bethesda, MD to participate in their research study. The whole trip is paid for by the NIH and we get free medical testing which will help us know for sure whether Haley will have kidney/liver problems in the future. We were kind of worried that because none of her current doctors had even heard of JS that they may be missing early warning signs of future problems so we felt like this trip would be worth while.

So we boarded a plane this morning bright and early at 7:30 am and off we go to the NIH. This is the first time ever flying with Haley. Now I hate flying to begin with, but add a toddler into the mix.....you can just say I was filled with DREAD!!!! Everything went surprisingly smoothly though, no problems getting through security with all our baby paraphernalia, no outbursts or temper tantrums during the flight, we really couldn't have asked for better behavior!! We are so proud of our big girl! But it was an emotionally taxing trip, schlepping our junk around and worrying how Haley would handle the plane ride.

Here are some pictures of Haley walking in the Baltimore Airport while we were waiting on the shuttle to the NIH

We are staying at the Children's Inn at the NIH. It is pretty nice, they really work hard to make it seem as much like home as possible. And let me tell you, the NIH is no joke. You have to go through an airport type security check to even get through the gate.....get off the bus, with all your crap, run it through the x-ray machine and walk through a metal detector type of stuff!!!

Tomorrow we meet with Dr Gunay and her nurse. I'm not sure what all is on the itinerary, but she will have a bunch of tests including an echocardiogram, a kidney and liver ultrasound, some blood work, and a 24 hour urine collection. They are pretty good to not push the kids too hard to do things that stress them out too badly, but I'm sure there will be some amount of protest on Haley's part.

And I also have a new first to report!!!! Haley has been able to pull herself to a standing position for a while now during therapy and if we help her, but she has never done it spontaneously and completely on her own. Saturday when I got her out of bed in the morning, she sat up put her hands on the rail and stood straight up. And needless to say we had never bothered to move her mattress down and had I not been standing right there she could have toppled right out. Of course, we moved that mattress all the way down before she went down for her next nap!!!

Let me OUT!!!!

Oh! So this is how you do it!!!

Well, we will try to keep you updated on what is going on while we are here. Take Care!

Check Out My New Wheels

2009-12-09T19:10:00.003-05:00

Haley got her new walker in last week. She is doing really well with it. Here are a couple of pictures of her taking her new wheels for a spin. Her favorite thing to do is walk up and down our driveway, and anyone who has ever been to our house knows what a tough hike that is. Our driveway is about 200 yards or so long with a step hill going up towards the road. She can make it the entire way up without any help.

We are getting ready for Christmas. So far we have only managed to get our shopping done for Haley, that was a huge task by itself. I can only imagine each Christmas will become harder and harder to keep from going overboard. Shopping for kids is so much fun!!!

We are also gearing up for a trip to Maryland to the National Institute of Health. Haley is going to be in a research study for people with Joubert Syndrome and other disorders that affect the liver and kidneys. She isn't having any symptoms of kidney or liver problems, but she is at risk and this study will be able to tell us if she is in danger of developing them in the future. I really REALLY dread the flight. We have never flown with Haley and have no idea how she will react. I hate flying as it is but throw a toddler and tons of baggage in the mix and all I can picture is disaster!!! Pray for us!!!! We will keep you all updated on what is going on while we are up there.

Here Goes Nothing

2009-12-05T15:36:00.003-05:00

So, I am a little nervous about making this post, worried that I will not be successful, that it will fail, and what people will think, but here goes nothing (no I'm not trying to get pregnant yet! LOL) I've created a new blog to kick off my new fundraising endeavor. I have been running again for several months and have decided to turn my new found hobby into a fundraising effort. I won't talk much about it here, as not to take away from Haley's blog and to constantly post about it here may annoy people who could care less about running. So, go check it out, this will all make more sense once you read it......and let me know what you think.

Movin On UP!!!!

2009-11-24T14:18:00.007-05:00

Growing up is inevitable, and today marks yet another milestone for our BIG girl!!! Haley is being moved up a class at her preschool. Granted it is the one year old class, but she is moving up nonetheless. Her teachers have been debating the move for a while now. She is needing more intellectual stimulation and more structured activities and learning opportunities. The main reason they were waiting is because she was not mobile and they were afraid she would just be trampled on by the other mobile kids. They decided she was ready, they were just waiting on a spot to open up. Her first day in the big kids class will be Monday. A lot of the kids in the class she is moving to were in her class before they moved up so she will have some familiar faces. I am sad to know that she is moving from her current teachers. Ms Ann and Ms Violet are so good with her, but they are just right across the hallway, so they won't be far away.

Haley is getting better and better at walking. She is doing GREAT with her walker, she has learned to steer it and go pretty much anywhere she wants to go with it. I still keep the walking wings around her waist because I'm still scared that she will fall. I know she will fall eventually and will fall a lot, but she still doesn't have that protective reflex down pat and I still think if she goes down now she will go down hard.

Also, I can't remember if I posted about this before, but she is OFFICIALLY CRAWLING!!!!! Thinking back to January when this whole therapy thing started, I could have never imagined the day that she would be able to crawl. She has come along way and has worked so hard to get to this point!!!

And for those who are wondering what is going on with our insurance. We are in the process of the second appeal, and we are waiting for their response. I know what it will be, but I am hoping for a miracle. We were however able to qualify for 100% coverage through the state's early intervention program. We have been involved with them since the beginning, but their level of support is based solely on income minus medical expenses and childcare expenses. When we first started we did not qualify for any help, but because we have incurred so many medical expenses and I haven't been able to work full time since January we were able to get ourselves down to 100% coverage!! It is quite a relief, but we still have eat the costs of her therapy sessions dating from May until October. This is where the appeal is so important, we are hoping that insurance will come back and decide to pay for all of those visits.....so hope and pray that our appeal makes it to a sympathetic soul's desk (I'm not even sure if those exists in the insurance world HAHA). We are also waiting on Haley's walker to get here (which thankfully was covered by the early intervention program). The one she has now is a loaner from the state, her new one is much nicer.

Don't forget about the Joubert Syndrome 10x10 Fundraising Campaign. I am still brainstorming on several small projects and maybe one large event sometime next summer. But with the holidays coming, I know things like this aren't on the forefront of people's minds, I just wanted to remind people not to forget about it.

Happy Thanksgiving everyone!!!

My, How Parenthood Changes You!

2009-11-20T13:02:00.006-05:00

I've been thinking a lot lately about my life and how I do more and more things since becoming a parent that I vowed I would never do. I find it kind of comical to look back at my ridiculous ideas and realize now how much parenthood changes you.

I used to hate ANYTHING on my refrigerator. It was literally blank, no magnets, pictures, notes, calendars......NOTHING before having Haley, and even after she was born, I still resisted putting things on the fridge. But then came preschool and craft projects being sent home, and little doodles made while playing in the floor. Next thing I know, my fridge is covered in the handy work of little Haley. And now I proudly cover my once barren fridge with the artwork of Haley and I think it is beautiful!!!

I also used to think kids kissing their parents on the lips was icky. I don't know why, but I did. Well now Haley is really learning to show affection, she has been giving hugs on command for several weeks. Just the other day I asked her for a kiss and she plants her sloppy, slobbery little lips right on mine......I could just eat her up!!! I love those sweet little kisses now and can't get enough!!!!

I once thought it was such a waste of a good day to lay around in your pajamas all day long. Now there is nothing better than spending an entire Sunday in our PJs cuddling, playing and watching football. Who needs to get dressed when you can stay comfy and cosy with your baby??

I thought I would never have my child in daycare. I have to admit, preschool is one of the best things that has ever happened to Haley. Her social skills have improved ten fold and I have to give a ton of credit to her teachers for all of their hard work, it has made all of the difference in the world for her.

Then there are some things I am not so proud of.....

I used to say I would never use television as a babysitter, or a reward, or as a coping mechanism. Well, I'm embarrassed to say, Sesame Street is now a life saver in our house. I don't know how we would make it through getting breakfast or dinner made, stopping out of control temper tantrums and where else would we learn useless and random Spanish vocabulary from our new Sesame Street friend Ovejita. Everything in moderation right?

The germ-phobe in me thought I would wash every single cup, spoon, toy etc that fell on the dirty floor. Who was I kidding, who has time for that crap!!??? I would spend my day at the sink sanitizing things. A quick brush off is good enough for me at this point.

I also thought I would never cave into the habit of fixing more than one meal at a time in order to get Haley to eat. I was always of the mind set you eat what I fix and if you don't eat....too bad. But I am so paranoid because Haley is at risk for kidney problems and an early sign is poor appetite, plus she has been teetering on the low end of the percentile charts for weight, I push food on her constantly. If one food doesn't work I will try another, and another, and another. But I am slowly learning this is just typical toddler behavior and trying not to give into this at every meal.

All in all I think we are doing a pretty good job sticking to our initial parenting philosophy, but we are learning that compromise and improvisation are a big key player. One ideal that I still haven't given into and will fight it to the death.....I will NOT drive a mini-van!!!!!! (disclaimer....sorry mini-van moms, nothing personal, I just can't do it LOL)

Meet Clyde....

2009-11-08T13:38:00.005-05:00

Hi my name is Clyde.......

I want to introduce a new member of our family, his name is Clyde. Today is our anniversary and to celebrate we went to Charlotte yesterady and had a nice lunch, a massage and went shopping at SouthPark. Apparently, the Mecklenburg County Animal Shelter has an adoption drive on the first Saturday of each month and as we were leaving, I caught the sign for it out of the corner of my eye. Against my better judgement we went to look at the animals and the first dog I saw was this little fella and I just fell in love with him instantly. He is part German Shepherd and probably part lab, we're not sure. He was surrendered to the shelter by his previous owners because they could not afford to feed him, he was a pretty neglected little guy. When he was brought in they estimated him to be 4 months old and only 17 pounds, he could not even walk on his own feet because there was so much muscle wasting, he was walking on his knees. They thought his leg was broken because he wouldn't bear weight on his right rear leg, and he was full of fleas. He doesn't act like he was physcially abused thankfully. He is very social and not very timid. But needless to say, he has had a rough life. He was taken in by some wonderful foster parents who took great care of him and acclimated him to living with other dogs, they have 3 beagles as well. I just had to have him.

We had been considering getting another dog for a while now, we felt like Rhett would benefit having a companion and wanted to get one for him before he got too old to enjoy another dog. And Haley just loves dogs too. We just didn't know if we could handle another puppy right now with everything going on with Haley. He is probably close to 6 months old now, still a puppy, but doesn't need quite as much attention as a really young puppy. He was already house broken, crate trained, neutered, vaccinated and microchipped, all thanks to his foster parents. And I could not imagine a dog much sweeter than this little guy, a real lap dog!!!

Rhett really seems to enjoy him so far. He is trying to establish his dominance of course, but not showing any agression towards him at all. We kept Clyde in a crate last night in our bedroom and he slept through the night. But Rhett would not go to sleep, he kept walking over to the crate and watching him so I had to move Rhett's bed over in front of the crate so he would go to sleep, he seems very protective of Clyde already. They are already playing in the yard together like old pals. I'm sure Rhett will teach him many things.

Haley, of course, loves him. She just squeals when she sees him and wants to pet him. Clyde is very tolerant of her. She has been tugging on his tail and feet and he doesn't mind a bit. He is still a bit clumsy and I am afriad he may knock her over accidentally, so we keep the interactions short and very controlled.

The cats however, are not big fans of him yet. Parker has slapped and hissed at him several times. Baxter is curious but cautious with him. I'm sure they will come around eventually, but for now they are keeping their distance.

So, yep, we are crazy I guess. But I just felt like running into Clyde was fate and I had to have him. We have a small menagerie, and if its true that pets help increase your lifespan, then we should live to be 130!

A Creepy Cow and a Crazy Blonde Lady

2009-10-31T22:30:00.002-04:00

Happy Halloween!!!! Haley is obsessed with the Chik-fil-A commercials, everytime one comes on the television she starts pointing and "moo-ing" at the TV so we decided she should be a cow for Halloween.

There was a Fall Festival at school last week. All the kids dressed up and there were some games. One of the teachers dressed up like a cow and Haley really enjoyed seeing her.

Then tonight, we managed to dodge the rain and Haley got to go out and enjoy trick or treating for the first time, last year she was a little too small to enjoy dressing up and seeing people. And yes, we shamelessly used our kid to get some good candy loot too!!! I've never been one to get into dressing up for Halloween but thought I would do something this year and got a Kate Gosselin wig (you know, the crazy mom on Jon and Kate + 8 with that ridiculous hair-do??). Well I don't think our neighbors got my joke, they all looked at me kinda weird and sympathetically thinking to themselves "what did that poor girl do to her hair?" I ended up ditching the wig after 3 houses. Enjoy a good laugh at my expense!!!

Year Long Fundraiser for JSF

2009-10-12T21:11:00.003-04:00

I would like to introduce the new fundraising campaign for the Joubert Syndrome Foundation called the 10 by 10 Campaign. The idea behind the campaign is to ask 10 people to ask 10 other people to donate $10 for Joubert Syndrome. It is a year long campaign which kicked off this October 10th and will end next October 10 (get it???? 10/10/10)

Joubert Sydrome is a really hard thing to raise money for, especially in the current economic climate. Fundraising in general is hard to do, even for the more widely publicized diseases and conditions. Because Joubert Syndrome is so rare, the fundraising is truly a grass-roots effort mostly depending on families affecting by the disorder going out and raising money and awareness and often donating money themselves. We end up asking the same people over and over again to donate therefore our base of support is not growing. One of the goals of this campaign is to help bring in second generation donors and broaden the network of fundraisers. My personal hope is that one day JS will have even half of the recognition that some of the other disorders do. Money raised for and by the Joubert Syndrome Foundation will help further research into the genetic causes of JS, possible treatments/cures, strengthen the network of support provided by the JSF to families and individuals affected by JS, raise awareness for JS to aid in earlier diagnosis and easier access to treatments and therapy, and the list goes on.

The easiest and quickest way you can help is to simply visit the 10 by 10 website and donate $10 in Haley's honor. Be sure to put in the "purpose" blank "10by10 campaign in honor of Haley Buchanan" so they can track where the donations came from. You can take it a step further and ask 10 (or more) of your friends to donate $10. I plan to host an event at some point in the coming year (most likely AFTER the holidays LOL) asking for a $10 donation from all that come. If you were so brave enough to host an event yourself that would be icing on the cake!!! Something as simple as a car wash, or spaghetti supper at church would be great! But I know any help/donation is a lot to ask in these hard times, and it is totally understandable if you are unable to help at the moment. We are just grateful for thoughts and prayers if that is all you can offer.

I'm hoping that this is making sense to everyone, because when it was first presented I myself was a little confused about the concept. There is no one big event that will take place on 10/10, WE are the event. 10/10/10 is just a way to help us remember to concept I suppose. This is a year long effort, so you will see me post about this periodically (and you will probably get sick of me talking about it) so hopefully this "squeaky wheel" will get some oil so to speak. Thanks for your help, and if you have any questions or want to help in any way please let me know.

Fun Outings

2009-10-06T14:25:00.006-04:00

Haley had a couple of fun little outings last week. Last Thursday she had her first official "field trip" with her preschool to the pumpkin patch. It was really chilly that morning, but she seemed to have fun. We heard a story about "pollination", she wasn't too interested in that....wonder why? Then we went and played for a bit and picked out pumpkins before going on a hayride.

I really like cows.....wow, thats a big one!!

Lets go find a pumpkin Mommy

How do I choose, there are too many?!

Ok, I think I like this one!

Daddy and I on the hayride

She also got to go to the Kings Mountain Battlefield trail with Uncle Moo and PawPaw last weekend.

Not sure what PawPaw was trying to show me, but it must be interesting!

Cooper sure is funny

Gotta take time to pet the puppy

Finally made it to the monument, boy that was a long walk!

Me and Uncle Moo

Almost Crawling

2009-10-02T19:47:00.003-04:00

Grandma got a short video clip with her phone of Haley tonight almost crawling. She is so close!!!!

OUTRAGE!!!!

2009-09-25T16:25:00.007-04:00

I am sure some of you know what we have been going through with our insurance company lately. So I am sorry if I am repeating myself, I am posting this to prove a point and to say once again that our health insurance system is broken. I'm not getting into the politics of whether what the government is trying to do with health care is right or wrong. I'm simply saying, that as it stands now, we are being let down by the system.

Forgive me for being lengthy with this post, I'm hoping that this will help raise awareness and help someone else out in the future. I am also looking for any advice from those whom have either been through something similar or know how to work the system better than we do, or opinions on whether you think we really have a leg to stand on during this fight?

Our insurance company has been denying all claims for PT and OT since May stating that the diagnosis of developmental delay is not covered under our plan. So I gathered up all the documentation I could find proving that Haley's delay is most certainly due to a very specific cause, Joubert Syndrome. I very confidently put all my little documents in the mail last month, feeling like I had all my ducks in a row.....how could they deny us now, here they had the proof the needed!!!

Well, much to my dismay, I opened the big fat denial letter today. It was like a sucker punch in the gut. My pessimistic side told me not to get my hopes up, but deep down I thought for sure they would agree to pay....who was I kidding, health insurance companies are nothing but money grubbing evil empires. So now they are trying to slip through a different little loop hole. Blaming it on developmental delay didn't work, they are now going to try the"this is not an acute illness" approach. This is the letter I received (some parts have been removed to cut down on redundancy):

"In your appeal, you requested we reconsider and allow the PT and OT because you stated these services are medically necessary due to her Joubert Syndrome.

This review confirms the initial determination that the PT and OT is not eligible for reimbursement. Under the plan, benefits for ongoing therapy in this case are not covered. PT and OT are covered under the short term rehabilitation benefit which provides coverage for acute conditions when therapy is expected to result in significant improvement of the person's condition within 60 days from the date the therapy begins. In this case, the condition is an ongoing and not an acute condition.

The denial of coverage is based solely upon the reasons set forth above. No other basis for exclusions (e.g., medical necessity of the services or supply) that may be applicable to the circumstances was evaluated at this time. Therefore, we are upholding our previous determination.

Short-term rehabilitation is therapy, which is expected to result in improvement of a body function, which has been lost or impaired do to: an injury, a disease, or a congenital defect. Furnished to a person who is not confined as an inpatient in a hospital or other facility for medical care. This therapy shall be expected to result in significant improvement of the person's condition within 60 days from the date therapy begins."

I am confused by the fact that our plan will pay for unlimited therapies, with no lifetime maximum visits but yet they only consider payment for acute cases. Why would an acute illness need unlimited amounts of therapy......fishy, don't ya think? Also, why would they every pay for therapy from the start if they knew all along that she had a chronic condition? Furthermore, they paid for therapy for approximately 120 days before they began denying the claims....I thought they had some ridiculous 60 day rule????

It also befuddles me to see in writing that, according to their standards, Haley has not made "significant" progress!!!! This is a little girl who in January did not even have the grip strength to hold our hands to come to a sitting position, and today she is on the verge of walking. I am sorry, but that is VERY significant progress!!!! I take that as a personal insult to Haley to say she has not made significant progress.

So, our next course of action is to file an, albeit useless, second appeal, which will include documentation from our PT and OT proving Haley's SIGNIFICANT progress. All we can do is keep fighting and keep trying to prove our point. Haley will likely require some form of therapy for most of her childhood, so we are just in the beginning of therapy. Insurance companies rely on the assumption that most people will back down and not fight, they also are slimy bastards and will slip through any loophole that they can find or create. We will not go away quietly, I declare WAR!!!! Won't you join me???

Another First.........

2009-09-18T23:00:00.004-04:00

They seem to be coming more and more frequently lately. I think something is really starting to click with Haley. She is enjoying her increased movement and freedom. Today when she woke up from her nap, Grandma found her in her bed sitting up. Up until now, Haley has been unable to transition from one position to another. If you sit her down, she sits, if you lay her down, she lays. She has never been able to go from one position to another. So, much to our surprise, she was found sitting up playing in her bed without anyone helping her do so. Grandma left her that way for a little while because she was happy playing by herself, but when she went back to get her.....there she lay on her belly and was happy. And when she went back again....well you guessed it she was sitting up again. So it seems like its not a fluke thing, she really has figured out that she can control her own positioning. I can't wait to see her do it with my own eyes!!!

Also, against the advice of our PT, we went ahead and bought her a "toy" walker because we have hit a snag with insurance getting her real walker ordered (imagine that!!!!), and the loaner walker is kinda old and the wheels don't work right. She seemed to enjoy the one my mom and dad for her, and I feel like it helps her get a grasp of how she can make herself move without the help of others.....even if it is on wheels. So here is a short video of her running across their living room chasing the chihuahuas (if you look closely, she has their leash in her hand, I think she wanted to capture them). This was taken with a cell phone, so the quality is very bad, but you get the idea.

FINALLY!!!! (OBX vacation part IV)

2009-09-11T22:20:00.007-04:00

Some nice weather!!!!! Too bad Will and Papa had to leave today. We went and played putt-putt, Grandma tried to teach her how to play golf, but as you will see, she ended up playing like her daddy and just picking the ball up and putting the ball in the cup!!!

"OK, bend and the knees and follow thru"

"After 4 putting, I think it is time to give up"

"Isn't this what Daddy does?"

"Here, take this ball!"

Haley and Uncle Moo

Mama and I at one of the OBX painted horses

Rain, Rain Go Away (OBX vacation part III)

2009-09-10T22:03:00.002-04:00

Well the weather system that was supposed to be moving out has moved back in, we were pretty much stuck inside all day long. We did get out and grab a pizza ride up through Corolla and Currituck. Not much of a sight seeing day :(

Daddy fixing my hair

Riding around in the crappy weather

Drinking out of my big girl cup

OBX vacation part II

2009-09-09T21:04:00.004-04:00

Although it looks like a nice day on the beach.....not so much!!! It has been super windy, off and on rain, and kinda chilly. But we are making the best of it and still enjoying ourselves. Hopefully the weather will make a turn, forecast is looking better for tomorrow.

Beach Bum (OBX vacation part I)

2009-09-08T20:26:00.005-04:00

Greetings from the OBX!!! This is Haley's first trip to the beach, she not quite sure what to think about it yet. The weather has been pretty spotty for the past two days, luckily we had a few hours of sunshine while we were out at Hatteras light house. Uncle Moo and I were brave enough to climb to the top of the lighthouse. The view was great, but I'm not much of a fan of heights, so I didn't stay long. Hopefully we will get to spend some more time out on the beach the rest of the week. I put lots of pictures from today on Picasa, check them out!!! Here is a sneak peak.

Starting to Get the Hang of This

2009-08-26T19:09:00.009-04:00

Walker.....check!!! Bearing weight.....check!! Able to take steps......check!! Holding on to the walker for dear life.....check!! Forward locomotion.......check!!! All systems go for take off!!!! I literally had goose bumps when I saw this today. Everyday at the end of PT,Beverly (Haley's therapist) lets Haley use her walker and walk back to the waiting room to me. Well today, Haley came out first and Beverly was not holding onto the walker like usual. She was taking steps with the walker without any help at all. We usually have to help push the walker forward while she takes steps. Haley is getting the first taste of independent movement with her walker. Here is a little video clip of her walking today(mostly unassisted, she still needs help with steering and sometimes slides backwards). It is still very scary to let completely go of the walker and every little wobble makes us jump and reach towards her, but she is walking!!!!!!

Haley's New Wheels

2009-08-05T19:29:00.003-04:00

Haley is showing more and more interest in walking....too bad she just doesn't have the balance to support it. I had a feeling she would eventually need a walker. The thoughts of it used to upset me, but now I'm excited about getting one. If it makes her more mobile and happier....I'm happy. Our PT is letting us borrow theirs for a few weeks to see if she is ready. She is doing well with holding onto it and balancing inside of it. She will takes some steps but still needs us to kind of pull it forward for her. She hasn't quite grasped the concept of stepping and pulling it forward to equal forward motion. She will get it, and hopefully we will get her her own walker soon.

She picked up a new baby sign somewhere today. I'm not sure where she learned it, school probably. But she was doing the sign for "eat" and at first I didn't realize she was really trying to communicate something to me. But then she started fussing and continued doing the sign and "ding-ding-ding" it occurred to me that she was telling me she was still hungry. Gave her a graham cracker and all was good. So far she knows milk, more, please, bye, and Os.

One more new thing she is doing is throwing and rolling a ball. As rudimentary is that sounds it is something the OT actually works with her on and she has just never done it. So here is a picture of her throwing and rolling a ball.

New Fundrasing Opportunities for JSF

2009-07-27T15:58:00.011-04:00

I have a couple new things to raise money for the Joubert Syndrome Foundation. First, I want to let you know about a fabulous friend I made when I first got pregnant with Haley. We met on an online mommy group (as corny as that sounds) and we have remained friends from the very beginning. Anyway, she is starting a children's clothing and accessories line, Little Chicken Designs. She donated that super cute little dress I gave to the silent auction at the conference.

Everything is custom made and 10% of all sales go straight to the JSF. She will be opening an Etsy store also when she gets a little more established, but you can put in orders via Facebook until then..... so stay tuned for that one.

And while you are on Facebook, if I haven't done so already, I now invite you to join the cause for the JSF. This is different than the JSF Facebook page. This one is to help recruit members to the cause and raise money. Once you are a member of the cause, pass it on to as many people as you can, even if we are just raising awareness and not getting donations.....that is important too!!!

And finally, every year the JSF as a whole does a "traditional" fundraiser....you know like school aged kids do. This year we are selling Sally Foster. For those of you who haven't seen this stuff before its really nice wrapping paper and gift-y type things. I have a catalog with me for those of you who are local and want to order that way. But you can also order online just make sure to put in the code 0507095 for the "school group account number" I think they said up to 50% of those sells go back to the JSF. I know for sure those that order the traditional way via catalog will not get their orders back until mid November. The fundraiser goes from now until October 1st and all orders are placed and once and delivered back to me to distribute. I'm not sure about ordering online, if your order is processed immediately or with the other, I will check on that one.

Anyway, as you can see, I have really gotten into fundraising for the JSF. We are a relatively tiny group compared to other "causes" out there. We just don't bring in the same amount of money as these other diseases and disorders do because its so rare and unknown. But the research going on is equally as important as the research going on for the other causes, so I guess we just have to fight harder to raise the funds. Sorry if I sound like a broken record, but this has become my mission. I will be putting the "how you can help" button back up on the page so that this information is easier to find in the future. Thank you all for your support!!!!!

so....about the conference

2009-07-23T07:48:00.007-04:00

Sorry it took me a while to get around to posting about the conference. I have been super busy working this week trying to make up for lost work last week.

I don't even know where to start. I have to admit I was a little nervous going to the conference. As most of you know, I'm not a huge social butterfly like my husband is. I'm not great at meeting new people and was worried about having the right things to say to the other parents. Would it be hard to ask about their children, how they are affected, how and when the were diagnosed? But as soon as we walked in for dinner that night I immediately felt at home and all those worries went away.....every parent there had the same questions we had, no need for awkwardness!!! What a relief!!! No weird stares, no blank looks when talked about JS, no feeble attempts to console you and tell you she would be ok.

I won't go into details, but we quickly saw that Haley is very lucky, she could have much more severe effects from JS. But every single child there, whether severe or mild is so precious and so special and it is amazing to see the love pouring from their parents and willingness to do EVERYTHING possible for their child. We met a lot of wonderful families, and a few that are fairly close to us in TN.

The doctors and specialist there were amazing. Although the were all compensated to be there, it was still so nice of them to take time out of their busy schedules and be available to all of the parents. We had several private consultations which were very informative....for the most part. We met with the neurologist, who are considered the best in the business for JS. Drs Paretti and Bolthouser from Switzerland. They were very knowledgeable and very nice, but VERY scientific and not really into looking the hope and miracles involved in the prognosis of JS. Which I can't hold that against them, they are scientific minded after all, and there may have been a language barrier involved also. Dr Doherty was gracious enough to spend extra time with us and looked at Haley's MRI. He went through slice by slice and explained everything to us. No one had ever explained it so thoroughly to us. He said that her MRI is very classic for JS, which was not news to us, but was nice to hear a definitive diagnosis from someone who is an "expert".

Lots of research going on in JS. I won't bore you with the medical jargon involved but if you are interested in learning more visit http://depts.washington.edu/joubert/index.html and http://clinicalstudies.info.nih.gov/cgi/wais/bold032001.pl?A_03-HG-0264.html@joubert@syndrome . Haley had a skin biopsy done, which sounds way worse than it was. Holding her down for the procedure was way more traumatic for her than the actual collection itself. We were going to have blood drawn also, but didn't want to put her through two bad experiences in one day. We are also going to enroll her in a research project at the NIH (National Institute of Health) which is studying the kidneys and liver complications associated with JS. Only about 20% of kids with JS will develop kidney or liver problems, and so far Haley is not exhibiting any, but since there is a link, they want to study all kids with JS with or without problems. That will probably be done sometime this fall or winter. They will fly us up to MD for a few days and do a lot of different testing.

Of course I got some pictures, not as many as I would have liked to, I was so overwhelmed I forgot my camera until the last day or two.

Haley walking around in her Walking Wings, she loves to walk now.

This is a dress a friend of mine at "Little Chicken Designs" made and donated for the silent auction. Thank you Lani!!!! (Go check her out on Facebook, she is making some fabulous stuff for boys and girls!!!!)

This was the last night at the closing gala. We weren't able to stay, but I wanted you all to get an idea of how many kids were there.

And this is our little ham demonstrating an alternative type of therapy known as the Feldenkrais Method. No one in our immediate area offers this, we would have to go to Charlotte and insurance doesn't pay for it. But it is a very interesting therapy, we may consider it in the future.

As usual, more pictures are posted on Picasa. And I can't say it enough, thank you to everyone who helped us make this trip possible!!!! I also have to give a big thank you to the many volunteers and board members of the JSF who made the conference possible. They put so much hard work into making this a wonderful experience. I hope to be able to help out in some way at the next conference.

I will also me posting soon about a fundraiser coming up for the JSF. We had no idea the costs it takes to run a foundation until the conference. Without the generous donations from individuals the foundation would not be possible and without the foundation there would be no conference, less research, and no communication between families, etc. Be on the look out for fundraising updates, I'm beginning to feel like she is in school already with all the fundraising I'm doing.....bear with me, its all for a good cause!!!

Wow

2009-07-18T22:33:00.003-04:00

We just got in about 2 hours ago from the conference. We are exhausted, overwhelmed, empowered, hopeful, and most of all thankful for our precious baby girl just the way she is. Just wanted to let you all know we made it back, I will try to post pictures and more on the conference in the next couple days.....off to bed.

A Place to Belong

2009-07-16T16:31:00.003-04:00

The JSF&RCD Conference is finally happening!!! We arrived yesterday afternoon and it has been non-stop ever since. We are learning so much and meeting such wonderful people. It is so comforting to finally be surrounded by people who truly understand what you are experiencing and feeling. Not that the support we receive at home isn't much needed and appreciated, but this is a whole new experience.

There have been several workshops and meetings so far. Last night presenters talked about new breakthrough research in JS. Today we heard from genetic counselors about testing and prenatal diagnosis, and also from a geneticist involved in research with the kidney/liver complications that can occur. A financial advisor also spoke (I made Will listen to that one, I can keep up with the medical jargon but money talk confuses me hehe!) We have so much in that area to learn and consider also! Having a special needs child complicates much more than medical care, your financial world is also turned upside down!

We are scheduled for several individual and private consultations with different specialists. So far we have met with the researchers from the University of Washington, Drs Glass and Doherty. They are so wonderful and knowledgeable. It is so nice to talk with medical professionals that have a true understanding of what is going on with our child. Tomorrow we talk with some neurologists from Switzerland and a behavioral specialist, then Saturday the kidney/liver specialist.

There are so many wonderful families here. It is hard to describe what it feels like to look around and see the other children affected by JS and how they are affected. There are families here from all over the world, Mumbai, the Netherlands, Australia.....and we thought we traveled a long way! LOL! I'm sure we are in the midst of making some lifelong friends and will have invaluable contacts from now on.

I can't thank the people who helped make this trip possible enough. This is the most wonderful gift Will and I have ever given ourselves and Haley. I just want to say thank you again!!!

I hope to get some pictures tonight and tomorrow. I have been so overwhelmed by just being here, I haven't even gotten the camera out yet.

Greetings from DC

2009-07-11T14:19:00.007-04:00

We are in DC this weekend visiting some friends. They have a little boy that just turned one. We've just been hanging out and the kids have been playing. Haley is enjoying all of G's toys and and they went for a wagon ride last night with G and his cousin. We went and played at the park a couple times next to the Potomac River, and this afternoon after nap time we plan to go for a boat ride......that will be interesting, its Haley's first boat ride. Will thinks it will scare her, but we'll see.

2009-06-29T08:17:00.004-04:00

I was looking back through the blog today, and 2 years ago today I got the faint positive pregnancy test......now look where we are, time flies.

Here are some recent pics. Also, I know I've been forgetting to update the Picasa album....I updated it just for you Matthew!!!

"Nose"

"Chillin"

Hallelujah!!!!!!

2009-06-24T18:13:00.002-04:00

Haley has never been much of a drinker. She maybe drinks 16 ounces of anything all day long, which isn't very much. I finally found something that she will very happily drink.....for the time being anyway.

Its vanilla flavored and is pretty tasty!!!!

Gratitude

2009-06-22T15:38:00.002-04:00

Sorry it has been so long since I last posted, we have been busy as usual with a few added activities. The Pampered Chef fundraiser party was last Thursday and it was a total success. Along with that and some donations from some truly kind and generous people we raised almost enough money for the conference. I never thought we would come anywhere close to actually paying for the whole trip, all I had hoped for was to maybe cover the cost to get up there and the hotel. We are extremely blessed to have such wonderful people in our lives, I can't thank you all enough!!!

Haley has rolled over a couple more times in the past week and is rolling onto her side at night and sleeping for several hours that way. She took one or two steps with a walker today in therapy. She is starting to make more sounds. Last week she started saying "mmmmmaaa". I'm not sure if she means "ma-ma" or if its just a new sound she has discovered. We are still trying to get her to learn some signs. So far the only one we have tried is "milk". We can do the sign for milk and she will grab her milk cup and drink, but she is not signing it back yet.

We go see Dr. Nelson, her neurologist, tomorrow for a follow up. I'm sure not much will happen at that visit. Hopefully he has researched a little bit more on what JS is and how to help us. I'm not faulting him for not knowing about JS, so far no one we have worked with had ever heard of it, but I would just like to be able to have a real discussion with a medical professional about JS and it not be me explaining it to them. If that makes any sense :) That is partly why I am so excited about the conference. We will be surrounded by people who will know anything and everything about JS.

Sorry, but no pictures this time. I have been really slack with pictures again. But soon, I promise!!!

Recent Developments

2009-06-08T14:56:00.003-04:00

We have had some exciting news to report. Haley rolled over from her back to her belly twice this past weekend. Now most people with "typical" children will think that is "so 10 months ago" but for Haley this is a huge milestone. She has never purposefully rolled over before. There for a while when she was very young (around the age when this is normally happening) she rolled over a few time belly to back, but I think this was mostly due to gravity. Haley has a HUGE head (off the charts in measurement terms) and I think just the weight of it pulled it down and therefore flipped her body over. But the fact that she was able to coordinate her movement to roll her entire body over is great!!! And rolling in the direction she did (back to belly) is much harder than the other way around.

Also I finally heard from Dr. Maria today. I contacted him back in April when we first got the JS diagnosis and sent him a copy of her MRI. For those who do not know who Dr. Maria is, he is one of the nations only Joubert Syndrome experts, and is also credited with helping discover the brain abnormality seen on MRI. He was working in Charleston, but has now moved to Augusta, which was the major cause in the delay to contact us. He said he reviewed her MRI and, as expected, her's is very characteristic of JS. However, the rest of her brain looked very good. We briefly talked about Haley's history and what she was doing now. Of course, he cannont give me much of an idea over the phone on her severity or prognosis, but seemed to think she may be on the milder end. He wants to see us once he gets established in Augusta, which will be late summer or early fall. I wish we didn't have to wait that long, but for now we are getting the appropriate care.

He did want us to follow up with the geneticist and also suggested starting to think about alternative communication devices for Haley. We are already trying to learn baby sign language, but he also mentioned getting some sort of laptop or assistive communication device. I'm going to have to do some more research about that. The reason behind this is because language is always the last thing to develop and because she is delayed in every other area, it is only natural to be delayed in speech. This is apparently very common in JS.

We have had an unbelievable response to the fundraiser we are having. It is almost overwhelming how generous you all are. We cannont thank you all enough for your kindness.

Haley's New Tricks

2009-06-05T18:00:00.004-04:00

Its been FOREVER since I have posted a video. Haley has discovered a few body parts and knows them by name. When I ask her to do "Itsy Bitsy", that means "Itsy Bitsy Spider", her favorite song right now. Seems like she does something new everyday!!! Enjoy!!!

15 Month Well Check

2009-06-01T14:57:00.003-04:00

Haley had her 15 month pediatrician appointment. Can you believe it....15 months already!!!! She weighs little over 20 lbs and 31 3/4 inches tall putting her in the 10th percentile for weight at 75th for height. She is following a good and steady growth pattern. This is the first time we have seen the pediatrician since we got the Joubert Syndrome diagnosis. Of course, he had never heard of it, not that I had expected him to. I printed out some information on JS and the guidelines for yearly monitoring for complications for him. Other than the JS, she seems to be a happy and healthy little girl. She only got one shot today, and she did very well with that.

We all went to IKEA for the first time on Memorial Day weekend (I think there must be an IKEA in Heaven....I love this place!!!) We found the cutest little table and chairs for her. She and Will sit and color everynight before bed at the table. Her little legs aren't quite long enough to reach the gound yet, so she just sits indian style in her chair, it is so cute.

And here are some pool pictures from this weekend. This girl just loves water!! It may actually be therapeutic for her too. One of the suggested therapies on the JSF website is water therapy.

Behind the Scenes at Therapy

2009-05-21T11:26:00.005-04:00

I thought some of you may enjoy seeing what a typical day at physical therapy was like. This is Ms Beverly working with her, she sees her twice a week. She is the one I credit for getting Haley to the appropriate doctors and involved in all the other programs. Thank you so much Beverly!!!!

She usually starts off on her belly playing with toys and trying to get her to push up on her arms, and also rolling over in both directions.

Now she is having her to push a ball and also working on kneeling

Then she has Haley straddle a bolster and puts blocks on one side of her and a container on the other. She has her bend over and pick up the blocks with her opposite arm and put them in the basket on the other side. This helps with trunk rotation. Notice how Beverly has to hold the arm on the same side to keep her from using it instead. Haley really doesn't like using the opposite arm because its a little harder for her to twist

Next she has Haley sit on the foam steps and bend over in front of her to pick up blocks. This helps with trunk strength too. It also helps Haley become more confident in moving her body on her own. After she is done picking up the blocks, she has her scoot off the step onto the floor. This is helping her realize she can move from one spot to another on her own and how to coordinate movements.

Then we work with the big ball. This is where things usually start going south. She starts on her belly rocking back and forth. Then she sits her upright on the ball and rocks side to side. This helps with balance and more trunk strengthening. She really hates the side to side thing because she feels so off balance, this is part of the JS, she lacks the protective reflexes to try to catch herself and she feels very unstable. But she is getting better, she is starting to attempt to put her arms down and catch herself.

Now is Boppy time. I had long ago put up Haley's Boppy, but its back out in full force. This provides a little support for her while on her belly. She has actually crawled out of the Boppy on a few occasions.

Then we "walk" to the other room. She is getting better at taking some steps, but she needs lots of help.

And we wrap up each session by swinging. This is kinda hit or miss, some days she loves it (like today) and some days she hates it. This works on her balance by providing vestibular stimulation (the part of the brain that is responsible for balance and coordination).

And then we go home. She works soooo hard, this is usually what happens....

Hope you enjoyed the backstage pass to Haley's PT!!!! Have a great day!!!!

Whats Been Goin On???

2009-05-19T21:07:00.004-04:00

So, do you like the new blog???? I got bored with the old one and thought I would do some spring cleaning or sorts. A thousand apologies for not blogging recently though. We have been super busy in the Buchanan household. Just when I feel like we are getting into a routine, another appointment is added. Last week we increased Haley's PT to twice a week and she still has OT once a week. Add that to preschool once a week and she only has one day off right now. Probably mid-June we will add another day of preschool. She will get a taste of what the M-F grind is like at an early age huh??? PT wanted to step up the intensity to see if we could get her more mobile sooner. She has also started visual therapy through a state funded program called the Governor Morehead School. A teacher and therapist came out to the house last week and they will probably come once or twice a month to work on her tracking (side to side eye movements) and over all vision. Although they said her vision is great, she has problems moving her eyes in order to see things (oculomotor apraxia)

Haley is definitely getting stronger and stronger each week, she is doing so many new things. She is getting better about spending time on her tummy and is making more and more attempts to roll over on her own. She can pull herself up to stand when holding our hands. She is taking some steps while being held. Her tummy muscles are getting stronger and she is getting better at sitting up, and can sit up on her own from about a 45 degree angle. She has started putting some of the appropriate shapes into the appropriate holes in a shape sorter. If you ask where her belly is, she points to it. If she is holding her brush and you tell her to brush her hair she will do it. Same thing with her shoes, she will try to put her shoe on (well just lay it on her foot more or less, but she gets the basic idea). She is pointing like crazy at everything in sight. She is absolutely obsessed with putting her sippy cup into the cup holders on her high chair and in her car seat. It is so funny to watch. She seems to do something new everyday. One positive thing that has come out of Haley's developmental delay is that every new accomplishment is never taken for granted. We are just in awe of every little thing she does. It really makes you appreciate the small things.

We are planning to go to a Joubert Syndrome conference in Cincinnati in July. We are really excited to meet other families going through the same thing. I have already met some pretty amazing parents of children with JS online, I look forward to getting to meet them in person. There will be a lot of experts on JS at the conference, so I'm sure we will learn a lot and will hopefully better understand what Haley is going through and how to better help her.

Next month brings a lot of doctor appointments. We have the follow ups with the neurologist, Dr Nelson, and the opthamologist, Dr Saunders. She also has her 15 (can you believe it....15 months!!!) well visit at the beginning of the month.

I've gotten behind on picture taking and posting them lately, I promise to get some up soon. We are experimenting with new hair styles. I have still yet to cut this little girl's hair and it seems like it is always encrusted in a layer of snot or fruit of some sort. I have tried every hair clip or bow known to man kind, and every single one she manages to pull out and promptly stick in her mouth. I'm also trying pig-tails and pony tails. Needless to say she is getting very used to her hair being messed with. But she is really cute when her hair is up, so I will be sure to post some pictures of that.

Also, take a second to check out the new link on the right side of this page for the Children's Rare Disease Network. Although this is not specific to JS, I still wanted to post this site to help raise awareness to rare diseases in general. With such rare conditions as JS, it is often difficult for such a small group of people to get recognition, band together, and ultimately raise funds to help with research, education, and prevention. This group helps bring rare diseases, such as JS, together into one central place for one common goal. Thanks for looking!!!!

Comic relief!!!!

2009-05-07T15:09:00.001-04:00

Look at what I won.....I wish!!!!!!

1 is the new 2

2009-04-29T20:20:00.006-04:00

It must be all the rage, seems like all the little ones I know have caught on to a new trend. Moving on the "terrible twos" early must be the cool thing to do. Haley's little personality is becoming more and more defined here lately. She is sooooo sassy and temperamental lately!!!! Everything is a HUGE ordeal. She is very good at letting you know her likes and dislikes. I need to get a video of her showing us she doesn't want something. She waves her arms around furiously until the offending object is gone. She seems to get bored a little more easily and wants to have whatever I have (especially my food, keys, and cell phone) and if she doesn't get it, she is NOT a happy camper. So if you call my cell phone and she is screaming bloody murder....no, I'm not beating her, she just wants to hold the cell phone and I'm not letting her. And if you don't let her do what she wants to do, you better watch out, and you'll get a dirty look!!!!!

She is doing pretty well in "preschool". This week the play therapist (who knew you needed a therapist to play!) told me she did really well drawing with a bingo blottter and was holding and using a crayon appropriately for her age. She is also pleased with how well Haley is pointing at everything in sight. We are having a hard time getting her used to the schedule though. It is hard to work out a schedule that makes sense when we have so much going on with all of the other therapies.

Speaking of therapy, she is doing really well in OT and PT. She is taking steps while the therapist holds her arms. She steps better with her right leg than left leg. We are still a long way away from walking, but she is starting to get the concept. She is also getting better at transitioning from the sitting position to laying position, but still requires some help. This week a teacher from the Governor Morehead program will be coming to see us to see if Haley qualifies for visual therapy. This is a state funded program for visually impaired children. Although Haley sees just fine, she may need help compensating for the irregular eye movements (oculomotor apraxia). I think that is all the new stuff going on.

Thank you all for the thoughts and prayers. It has been a tough couple of weeks, but we are dealing with all of this pretty well.....most of the time. I found a neurologist in Charleston who is a Joubert expert of sorts. He discovered the "molar tooth" sign found on MRI with Joubert. I contacted him via email a few weeks ago and he asked for me to send a copy of Haley's MRI. I'm waiting to hear back from him now. I will keep you updated on any progress and news.

Here are some pictures of us having some fun in the sun this afternoon. She absolutely loved being in the pool even though it is still pretty chilly when you first get in. I hadn't planned on getting her in the pool, but she insisted......see what I mean, 1 is the new 2!!!!!

excuse the mess around the pool, its a constant work in progress!!!

Welcome to Holland

2009-04-21T12:38:00.004-04:00

This is a poem a new friend sent me. The writer, Emily Perl Kingsley, is a writer for Sesame Street and has a special needs child. Enjoy!

WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Joubert Syndrome

2009-04-17T22:31:00.007-04:00

I wanted to wait and post about Haley's MRI until after we talked with the neurologist today. Her MRI was Tuesday. She did really well considering that she had to be put completely asleep during the whole thing because she had to be perfectly still during the MRI which took over an hour. By the time we got home you wouldn't have even known that she had anything done. She is such a trooper.

We saw the neurologist today, and deep down I knew that there would be something wrong. We wouldn't get the unexplained cause for her ocoulomotor apraxia that I had hoped for. She has what is called Joubert Syndrome. Its complicated to explain, and I don't have the energy right now to write it all out. This is copied and pasted from the Joubert Syndrome Foundation website, there is a link to their website on the right side of this page:

Joubert syndrome refers to a disorder in which there is a specific abnormality in the part of the brain called the cerebellar vermis. There is a group of genetic conditions and syndromes that may share this cerebellar malformation, and they are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals. For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website at www.jsfrcd.org.

Individuals diagnosed with classic Joubert syndrome traditionally exhibit the following features:
-Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
•Developmental delays—variable severity.
•Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
•Decreased muscle tone (hypotonia).
•Oculomotor apraxia (OMA), which is a specific eye movement abnormality in which it is difficult for children to track objects smoothly. Eyes may appear to jump, with jerky eye movements.
•Difficulty processing and reacting to information received through their five senses.

Explanation of features:
Individuals diagnosed with Joubert syndrome have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination. The severity of the resulting ataxia (uncoordinated movements) varies from person to person.
Decreased muscle tone is common in children with Joubert syndrome. As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common. Some children have also been noted to have abnormal eye and tongue movements. Developmental delays are usually treated through physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Some individuals experience difficulties resulting from an inability to appropriately process information received through the five senses - hearing, seeing, tasting, touching, and smelling - as well as from their poor sense of balance and muscle movement. Some families have found that sensory integration therapy can help to minimize these sensory issues.
Overall health and growth are not known to be severely affected by this condition unless significant liver or kidney failure occurs.

Management and treatment:
Presently, there is no cure for Joubert syndrome. It is recommended that individuals with Joubert syndrome see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney doctor), ophthalmologist (eye doctor), geneticist, and neurologist, as well as any others recommended by your doctor.
Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, eye, or kidney involvement that may become progressive over time, is recommended on an annual basis.

In plain English there is a bridge between the two halves of her brain that are either missing or underdeveloped and the two halves cannot communicate with each other. This explains her poor balance, not being able to walk or crawl, and her eye issues. The good thing is that this is not something that will get worse over time. She can only get better with time, not worse. As far as what she will eventually be able to do, we won't know for a very long time. We don't know for sure if that part of her brain is missing or just smaller than normal. The more that is there, the less severe this will be. For some reason, they couldn't see how much of the "bridge" was missing. More than likely if she is able to walk or talk in the future, it will happen at a much later age than normal. But the fact that she is making progress is a good sign that she could be a fully functional child. In the most severe cases, these kids can't even sit own their own, and she has been doing that since she was 7 months old, so that is a very good sign. The doctor also said that in very mild cases, some people are so "normal" that they may not even know they have it.

Right now we are involved in so many therapies it makes my head spin. She is getting all the medical care and therapy that she could possibly be getting thanks to our physical therapist being very proactive and getting us involved in a wonderful developmental program. She is getting PT and OT. This week she started a "preschool" which focuses on child development and the teachers are specially trained to deal with children with developmental delays. We are looking into getting her started in a visual therapy program also. So needless to say we are very busy and she is getting the best care possible.

Will and I are very optimistic that Haley will grow to be a "normal" child, we may just have to take a different route to get there. But what can you really say "normal" is? We have always known that Haley is a special little girl with or without our current issues. No matter what happens with her she is still our daughter and love her more than life itself, and she is still your granddaughter, neice, cousin, friend, god-daughter, etc. No diagnosis a doctor could give her can change that. She is still the same Haley that she was yesterday. There is no need to worry yourself to death, there is nothing we can do to change what is going on with her. All we can do is take one day at a time, go through with therapy, pray for the best, try to treat her like any other child and enjoy every minute we have with her.

Thank you for your prayers and please continue to keep us in your thoughts. If you have any specific quesitons please feel free to email me. I will try my best to answer them. I know this is confusing especially for those who don't have a medical background. It is sometimes hard for me to translate into laymen terms.

Happy Easter!!!!

2009-04-12T22:10:00.005-04:00

Hope everyone had a good Easter, we sure did. Here are some pictures of our weekend.

Grams made me an Easter Bunny cake.

It sure was good!!!!

The Easter Bunny came to see me today

He brought me a cell phone and some puzzles.

We were going to go to church, but I decided to take a nap instead. But here I am in my pretty Easter dress anyway

I attempted to hide some Easter eggs

But I got side tracked, some of them had treats in them!!!!

And now I blow kisses to everybody. Happy Easter!!!!!

Zoo Day

2009-04-08T12:05:00.004-04:00

Haley and I went to Columbia to visit some friends last weekend. We had a great time!! We went to the zoo Saturday. Haley didn't pay much attention to the animals other than the ones in the little petting zoo. She must have thought the bunnies were kitties and the goats were dogs. She got really excited about them and started blowing them kisses, it was too cute.

Watch Out Easton

2009-03-29T22:06:00.004-04:00

Logan is makin a move on your girl!!!!

Look What I am Doing!!!

2009-03-21T18:25:00.004-04:00

Oh my goodness!!!!

Yep, she is standing. She has been standing for several weeks now, but has gotten a lot better at holding on to things (like a table or the couch) for several minutes at a time without help. I'm always near by because she will fall and doesn't try catch herself yet. Just thought you all would like to see a picture of her finally standing. Yeah!!!!!

Small steps......sorry this is a long one!!!

2009-03-12T15:36:00.004-04:00

Well, we had our opthamology and neurology appointments this week. We are all exhausted!!! It still amazes me how tolerant and patient Haley is with strangers. She was a perfect angel. Anyway, we went to the opthamologist (who came highly recommended because he is a neuro opthamologist) Tuesday. He did an eye exam, tested her vision (don't ask me how they test vison in a non-verbal baby!), dilated her eyes to look at the back of her eyes. He said her vision is fine, and her retina (the back of her eye), blood vessels, and nerves all looked good. He was able to give us the name of what the head shake, looking out of the corners of the eye thing is. It's called oculomotor apraxia (say that three times fast!). This is an easy to understand definition I found:

What is Ocular Motor Apraxia?

'Fast' eye movements are called saccades. We use saccade eye movements to quickly change the direction that our eyes are looking. This helps us look at something that has suddenly moved near to us. This is so the eyes can focus sharply on an object. The eyes can then give clear signals to the brain to make clear vision. It also helps us quickly move our eyes across a page of writing while reading. Saccades are important in many other visual tasks. Ocular Motor Apraxia is a condition where a child has a breakdown (failure) in starting (initiating) fast eye movements.

How is Ocular Motor Apraxia diagnosed and how does it affect the way a child sees?

Ocular Motor Apraxia is often diagnosed by doctors asking parents questions about their child. Children often 'thrust' their head from side to side to change the direction they are looking. 'Head Thrusts' are a typical movement that helps a child overcome their difficulty in moving their eyes quickly. Children may also blink to start a fast eye movement.

Now before you go and Google oculomotor apraxia, understand that this is not a diagnosis, just the name of a symptom. There is a lot of information out on the web, some of it is kinda scary. But do realize that you never know what information on the web is correct, and you cannot self diagnose yourself based on what you find on the web. So I don't want to be getting phone calls worried that she has this or that. We don't know until all of the testing is done. I'm not wasting my time researching this quite yet, because I don't have all the facts......I don't want you to waste your time either, its a dead end when you dont have all the pieces of the puzzle.

Wednesday we went to the neurologist, Dr Nelson at Presbyterian Hospital in Charlotte. I really liked this doctor, and so did Haley. He seemed to be pretty positive about Haley's future since she is making progress and she is so social and interactive. He didn't feel like there was anything urgent to worry about, and didn't think this was a degenerative nerve problem. He said that sometime they never find a cause to the oculomotor apraxia, that some kids are born with it and it usually goes away on its own. But this is also a symptom of other disorders, so we had a bunch of labs drawn, and are going to have an MRI done some time within the next week or two.

She, of course, did not like having her blood drawn. But she quickly forgot that it even happened within a few minutes. For the MRI we will have to go to the Children's Hospital at Presby and they will have to sedate her because you have to be completely still for 30 minutes or so. She won't be completely put to sleep, but an anestheiologist will be there with her.

So we really don't know much more than we did before we went to the doctors, except that her head and eye movements do have a name. I will keep you posted on any news that comes along, but I think for now it is just a wait and see game.

I also want to report on what progress she is making. She can come to a sitting and standing position while holding our hands. She can stand with her back on a wall for several minutes at a time, and will sometimes push her back and hips away from the wall (which means she is starting to balance while standing) She is also starting to catch her self a little bit when she looses her balance. These are pretty subtle and small changes, but she is making progress which makes us feel better.

What a Playa!!!!

2009-03-10T17:14:00.004-04:00

Some friends of mine came by with their little boy, Easton, today. He's just a few weeks younger than her. He was lovin him some Haley today.

and he goes in for the kiss.....

From snow to the 80s

2009-03-09T20:48:00.005-04:00

This time last week there was half a foot of snow on the ground. Today it is in the low 80s and we are in short sleeve shirts. Crazy!!!! Just some practicing with the camera with a not so happy model who would rather munch on leaves than have her picture taken.

Snow Day!!!!

2009-03-02T13:09:00.004-05:00

we got a pretty good little snow storm last night, which is haley's first "real" snow. we probably got 6-8 inches. i hope it doesn't melt too quickly. we spent a little time walking around the neighborhood this morning, Will carried haley in her backpack. she must not have been too impressed with the snow because she feel asleep about 10 minutes into the walk.

Our drive way....no way we are getting out today!!!

Will, Haley and Rhett

Haley fast asleep

Rhett trying to catch a snow ball....viscious dog!!!

A baby becomes a toddler

2009-03-01T21:58:00.001-05:00

Well, I guess after today, Haley is no longer a baby, she is officially a toddler. The party was so fun, and Haley seemed to love all the attention. She barely had a nap before the party. I was just anticipating her becoming a beast in the middle of the party, but she did really well. She got so many neat gifts. I can't tell you enough how generous our family and friends are, we are so blessed have you all in ours and Haley's lives. Thank you again for sharing this special day with us!!!!

The cake was WONDERFUL!!!! Haley didn't seem too impressed though. She wasn't quite sure what to make of it, and didn't tear it apart like most kids do at their 1st birthdays. She is such a girly girl, she didn't want to get too dirty I guess.

And here are just some random pics from the party. I will put the rest on Picasa. I can't believe her first year has come and gone....and that she actually survived US!!! I now really know what people mean when they say time passes in the blink of an eye, to enjoy every moment of it. They do grow up so fast. It seems like yesterday when we were bringing our newborn baby home for the first time. I can't wait to see what the next year holds for us!!!

A girl so special she gets TWO birthdays!!!

2009-02-28T15:52:00.002-05:00

As most of you know, and much to her Papa Smith's chagrin, Haley is a Leap Day baby. People ask me all the time, "don't you feel sorry for her, she only gets a birthday every 4 years" or "when are you going to celebrate it" Well my answer to that is Haley is just so special that it takes two days to celebrate her birthday this year, especially because its her First birthday!! I'm not sure how we will do it in the future. I have heard some Leap Day babies say they celebrate on March 1st because it is the day after the 28th, and they were born the day after February 28th. I've also thought of just celebrating it when its more convenient while she is too young to care then letting her pick her birthday on the off years. I don't know what we will end up with, but for this year it TWO BIRTHDAYS!!!!

I am, of course, getting nostalgic as the anniversary of her birth approaches. This time last year I was getting ready to be admitted to the hospital for induction. Will and I went to eat at Outback before going to the hospital. A "last meal" of sorts for me, I knew it would be a clear liquid diet for me until Haley was born, I was going to enjoy myself one more time!!!! And it would also be our last meal alone, just the two of us. The next time we ate together two would then be three. I remember being so nervous when we checked in at the hospital, it was weird being a patient for once. It was an unexpected emotion for me, I am used to being in a hospital, I've worked in one for what seems like an eternity!!! But I was all of a sudden freaked out by being in the hospital. Weird putting on that hideous gown, weird laying in that horribly uncomfortable bed, weird being the one the IV was going in (that hurts a lot more than I ever thought it would!!), weird being the one the nurse checks on. And then I thought I would be brave and stoic and do this without an epidural, I would be that crunchy granola mom who did it "au naturale"!!!! HA!!! Bring that epidural STAT next time!!!! Things didn't go at all like I had envisioned. I had dreamy thoughts of my water breaking at home in the middle of the night and Will driving franticly to the hospital. Images of us walking in the hallways, stopping to "breathe" through contractions, sitting and bouncing on the birthing ball, and most of all it being quick. Instead I was almost literally chained to the bed because the slightest movement sent my blood pressure through the roof, I could only get up to pee. Labor progressed very slowly. I was technically in labor for over 24 hours. Don't get me wrong, things could have been WAY worse, but it was not like I had imagined. And this wouldn't be the first time having a baby wouldn't be like I imagined. Nothing happens like the Hallmark card vision in your head when it comes to parenthood!!!

And then came Haley. Some of you may not know, or remember, that Haley's middle name was originally going to be Grayce. But the second she was born, Will and I looked at each other and said together...."Haley Gray". She was so much smaller than I had expected. The ultrasounds were all predicting a 9lb baby. She weighed in at exactly 7 pounds. I would have never thought I would have a baby that small, thanks for the petite genes Martha, a 9lb baby would not have been fun to birth!!!! She was so calm and quite that first night, she just laid in the bassinet and took in the new world around her quietly. It was just a preview of her personality to come. She is normally the most laid back baby you could imagine.

Everyone was right, there is nothing like the birth of your child. Your life changes in an instant, and all for the good. You fall instantly in love with this person that you just met. It is amazing!!!!

Well, the big party was today. It was an all out PINK extravaganza, pink giraffes to be exact. The theme of her nursery was jungle animals, I thought I would bring it full circle and do a giraffe theme for her first birthday. For those that came to the party, thank you so much for coming and sharing this special day with our little family. I will post pictures of the event hopefully by tomorrow.

More appointments

2009-02-18T07:55:00.005-05:00

sorry its been awhile since ive posted, ive been busy running haley to therapy while trying to work during the week. its a little overwhelming. so we had our occupational therapy evaluation yesterday. for those that dont know what OT is (the name has never made since to me....what is her occupation??) they work with fine motor skills, coordination, sensory skills, age appropriate activities etc. the therapist said that her fine motor skills are pretty much on target for her age, but her coordination skills and mimicking skills are a little delayed. she thinks it may have something to do with her vision. she may be having a hard time seeing what she is doing and putting it all together. so now we see OT once a week as well as PT once a week. she enjoys OT much more than PT. OT is more like playing, PT is more like working out. i guess shes like me, she doesnt like to work out!!!

we also have some appointments in march to see a pediatric neurologist and pediatric opthamologist. hopefully that will give us some answers as to what is going on with haley. but the waiting is killing me. but its normal to have to wait a while to see these specialists, they are always booked way in advance. so there is not much we can do except work with PT and OT in the meantime.

i would post some pics, but i honestly havent had time to play with the camera. but i promise once i get some pics i will post them.

Fun on the Farm

2009-02-09T08:05:00.004-05:00

WOOOO HOOOOO!!!!! My weekends are now FREE!!!!!!! We had a really good weekend too. Saturday we played golf with Grams (Wills Mom and her boyfriend Greg).....and, not to brag, but whooped their butts!!!!

Sunday we went to visit Will's dad up in Mocksville. They have a beautiful farm. Haley got to see all kinds of new things. Lots and lots of different "buhs" (thats what she calls dogs right now). She also saw some horses, she wasn't quite sure what to think of those, and some calves. They also have some donkeys, but we didn't go see those. Here are a few pictures of Haley in her backpack that Will carries her in.

I just had to add this picture, it is priceless!!!! She was playing in the floor and kept reaching over to pick up her toys and kept showing her little crack....too cute!!!!

Week 2 of Physical Therapy

2009-02-06T11:58:00.004-05:00

We had our second appointment with PT yesterday. It was not the greatest visit for Haley, she was a little out of sorts and I don't think she was really in the mood to work. We spent most of the visit trying to console her, she was not a happy camper. It is to be expected I guess, having her in a new environment, with a strange person and toys that aren't hers. She did meet one of her goals already, which is reassuring. She was able to consistently come to a sitting position while holding onto our fingers. It is strange that such simple things to us are such huge milestones in little ones. The PT wants to refer her to a pediatric neurologist because of some head "tics" that she has. She shakes her head back and forth for no apparent reason. Haley has done this "tic" for a long time and we have never thought much of it. It would come and go, but ever since the PT pointed it out to me last week, it really stands out to me now. Most people think that she is shaking her head "no" but now that I watch it closely, I really don't think that is what it is.

We also had a home visit from the child development service program this morning. We met with our service coordinator, who I believe is a child development specialist, and also a child psychologist. We just talked about what Haley does and how she handles certain situations. The psychologist did some developmental testing with her, seeing how she handled objects, how she looked at things, responded to certain situations, etc. It probably seemed a lot like playing to Haley. The psychologist said that Haley did have some overall developmental delays, that she is developmentally around 9 months. Its not a huge deficit, just at the low end of average. But she did explain to me that when dealing with someone so young, a few months behind can be pretty significant, and that is why early intervention is so important. They have so many services available. They want to refer her to occupational therapy to work on her coordination skills, and have a nurse come to evaluate her vision, and play therapy, possibly speech therapy. It is all very overwhelming right now, where will I find the time to fit it into my schedule?

I know some of you may think that this is all a little overboard, why does she need all this? I think they are trying to err on the side of caution since they are seeing some delay. They want to make sure and rule out some underlying condition. Hopefully, in the end, this was all overkill and not necessary, but I would rather go overboard that sit passively and watch her fall further behind. This is all pretty stressful for me. It is hard being a nurse and having some medical knowledge. Sometimes I wish I didn't know what I know, or have seen the things that I have seen. It would be nice to be "blissfully ignorant". When they start talking about neurologists and psychologist it sends me into a tailspin of "what if" scenarios. I analyze everything she does with a fine tooth comb....is that something, what did she just do? So, even if you don't agree with what we are doing, and all of the people we are having look at her, please don't judge or criticise us. We are doing what we feel is best, and if its overkill....so what???? what will it hurt in the long run? I'm not trying to be mean by saying that, I just don't need the extra stress of worrying about what other people think.

With that said, I will of course keep you posted on whats going on. I'm really going to try not to turn this blog into "Haley's Medical Progress Blog". I want to keep it a fun and happy place!!! Thanks you everyone for all of your support.

We love you guys!!!

bitter sweet

2009-02-04T21:31:00.000-05:00

today i am packing up all my breastfeeding supplies. i successfully breastfed for almost 11 months and had planned to go longer, but haley had other plans. the morning of january 22nd was the last time she nursed. i had no idea that would be our last time breastfeeding. had i known, i may have paid more attention to the moment. on the other hand, maybe im glad i didn't know, maybe it would have made it harder. i tried to feed her that evening and she wanted nothing to do with it, was biting, hitting, and screaming at me. i thought, fine, maybe just a nursing strike. she will be back to normal tomorrow. i kept offering and she kept refusing. i decided to pump for several days and keep offering. after a week of offering and pumping i said enough is enough, she has decided she is done.

haley is really starting to develop a sense of Independence especially with feeding. she rarely lets me spoon feed her anymore, doesnt like for you to hold her bottles. shes a big girl, she wants to do it herself!!!

its been 4 days since ive pumped, so i thought its time to pack up that damn contraption.....that ball and chain!!!!! i thought i would be excited about the end of breastfeeding. it was torture for me in the beginning. i hated it, couldnt wait for it to be over. the cracked nipples, the feeling bound to either the baby or a pump, the engorgement, the leaking, the worrying over what i ate or drank. as time went on, it got easier, less painful, and part of my everyday life. now there is a huge chunk of my life missing, it was part of my identity. now, dont get me wrong, i never planned to be one of "those moms" that breast fed a 3 year old, i just planned to do it for a few more months. i thought it would be my decision to stop, not haley's.

i will miss it, i do miss it. it was something only i could do for her. and having bigger boobs was also a nice perk to breastfeeding. :) it is nice not to have to worry about finding a spot to discretely breastfed (although i was becoming pretty good and nursing in public!) and not having to take my pump with me if i were away from her for more than 12 hours, and getting to wear normal and sexy bras again. there is a new sense of freedom.

i look back now and wish that i had at least one picture of haley while she was nursing. i always hated those pictures, thought they were creepy. but now i wish i had captured that moment in time, just for me to look at and remember what it was like. oh well, should-a could-a would-a!!!

i think if there is a next baby, i will enjoy it more. i wont have to go through that learning process, i will be a seasoned breast feeder. it may be a struggle for the next little one, but it wont be as much of a struggle for me. i know what to expect and how to do things.

anyway, i just wanted to write a little about this, to help me remember and help me move on. this is nothing like i expected to be feeling. i am happy that i was able to provide for haley as long as i was able to, i am sad to see it go, but im also excited to see her grow up!!!!

GO STEELERS!!!!!

2009-02-04T15:52:00.002-05:00

Physical Therapy

2009-01-28T12:17:00.005-05:00

I've been contemplating on whether to post about this or not. I finally decided that, yes, I need to talk about this. This is nothing to be ashamed of, and it does not mean that anything is "wrong" with Haley. Most of you probably know that Haley is a little on the "slow" end of development. We all kinda make light of it by saying "oh, she's just a little lazy" or "what a diva, she wants everything brought to her". In most cases, not crawling is fine, in fact some kids never do crawl, they go straight from sitting to walking. She doesn't crawl, scoot, roll, camando crawl, anything. She makes not attempts at mobility what so ever. The fact that she is totally immobile is the problem, it is not normal for a child to just sit and not attempt to move. She should be driving me absolutely insane moving around getting into things. I used to think of this as a blessing in disguise. She also doesn't stand. Whether it is on her own, or with support. Another problem.

I have been cautiously watching her for the past few months thinking she will develop at her own pace, that I can't force her to do anything. Both of which are true assumptions about child development. But my last straw came 2 weeks ago. She was sitting at this toy that her Uncle Matthew gave her for Christmas. Its one of those that is meant to grow with a child's developmental stages. You can sit and play with it, stand and play with the things on top, or cruise along the entire thing. Well, she was just sitting trying to reach the monkey that plays music and lights up (its her favorite part of the whole thing) and its about 3-4 inches out of her reach. She sat there sobbing, reaching, and rocking trying to figure out how to get to it, but she just couldn't. The frustration on her face was almost unbearable. It just broke my heart to see her struggling like that.

I talked with my friend Meredith who is a pediatric nurse practitioner and she was concerned about her, so I called and got an appointment with the pediatrician. He has always told me that she is a little on the slow end, but not to worry, it will all even out by the time she is 18 months old. I couldn't just sit and wait until she was 18 months old and see if it did in fact "even all out". I'm not blaming him at all for not showing concern earlier. He only sees her for 30 minutes at a time every three months. There is no way for him to get the whole picture of what she does on a day to day basis. He gave us a referral to a physical therapist and we went for the first time this morning.

She did really well today. She didn't mind at all letting a stranger hold her. She was just as sweet and friendly as she could be. The therapist kept commenting on how social she was. She did a full evaluation of her motor skills, and did find some problems that needed to be worked on. She will go over the results of her "report" next week, but said that she had some pretty significant delays in gross motor skills, her hip muscle tone, and some reflexes. She is also referring us to an occupational therapist to help with things like her hands grips and upper body strength. It sounds like this will be a slow process and will take some time. For this week we are to work on the very basics like rolling over and getting into a crawling stance. It just occured to me that part of the problem may be that I've been encouraging her to do more advanced things and she never mastered the basics. I have faith that she is and will be okay, she just needs a little extra help. And there is nothing wrong with asking for help when it is needed is there??!!

So, I will, as usual, keep you posted on Haley's progress.

Long Time No Blog......

2009-01-19T15:06:00.007-05:00

Haley wants to give a shout out to her Uncle Moo who's birthday was last Friday.

Sorry its been so long since I posted, but Haley and I were traveling nomads last week!!! Haley and I went to spend some time with my friends in Columbia. Logan (Meredith's little boy) and Haley got to play together.......some. I don't think Logan was too thrilled about Haley though. He's 14 months old and I think she is a little boring for him, and he certainly didn't like her playing with his toys. The rest of the time us mean mommies drug the kids around shopping all day. I wish I had gotten more pictures of Haley and Logan, but it was hard to get a good photo-op with those two. Logan is constantly on the go and hard to keep him still long enough for a picture

Then we spent the weekend at Sugar Mountain....Brrrrrrr!!!! We had gone with the intentions of skiing, but I guess Will and I are getting too old (and cheap!) to spend $170 on lift tickets to spend the day freezing out buns off. We have turned into fair weather skiers I guess. We had a good time though just bumming around.

The Joy of Teething

2009-01-05T17:15:00.005-05:00

Haley has been an absolute BEAST the last few days. I know, she is just too sweet to be grumpy, right??? But I think I found the culprit, she has another tooth coming in on the top left. That brings her grand total for teeth up to 5, wow....SO BIG!!!!

Haley's First Christmas

2008-12-29T22:00:00.005-05:00

Hope everyone had as good a Christmas as we did. Just wanted to share a few pics of our holiday. Haley got so many new toys, she doesn't even know where to begin. Santa also brought me a new camera, a Canon Rebel....a really nice one!!! Now I just have to learn to use it, so bear with me, the quality will hopefully get better as I figure this thing out!!!

Here is Haley in front of the tree Christmas morning after Santa came.

Learning to ride her new walker/riding toy

Playing with Grandma and the "Very Hungry Catapiller"

And playing with Grams and her new cash register

With Uncle Moo and one of her most favorite new toys

We thought we would go to the mountains and enjoy some snow and skiing.....uh, maybe not....the weather was far from "wintery". This was our view from the condo on top of Sugar Mountain. We had fun anyway though, its hard not to have fun with Haley!!!

But we did manage to get some practice in with the new camera....its really hard to take a bad picture of this little baby!!!!

As usual, the rest of the pictures will be posted on Picasa....follow the link and enjoy!!!

A Girl and Her Cat

2008-12-19T09:59:00.005-05:00

Haley just loves her kitties, but you wouldn't be able to tell by how she is treating Baxter in this video. He must really love his sister or he was just too lazy to protest.

Haley's New Hat

2008-12-16T16:59:00.002-05:00

These were too cute not to post.....enjoy!!!

Here Comes Santa Claus

2008-12-11T21:15:00.005-05:00

We took Haley to meet Santa Claus today at SouthPark. She wasn't too impressed, but then again, she doesn't yet realize that Santa will be bringing her gifts soon. I think once she figures that out, she will be more interested in him!! She did really well though, didn't cry at all when he held her. She did start to grab at his beard. The meet and greet abruptly ended once that started. Maybe next year she will be able to tell him what she wants for Christmas!

It's Beginning to Look Alot Like Christmas

2008-12-08T17:47:00.003-05:00

I did a Christmas "photoshoot" the other day. We had to cut it short because Haley was wanting to eat the ornaments, probably not a good idea. Haley and I went to Will's work for their Christmas lunch and there was another little girl there about her age. They were so cute together. Haley doesn't spend much time with other kids her age, so it's neat to see her interact with her peers. At first it was a Mexican stand-off between the two, they weren't sure what to make of each other. Then the other baby started trying to take Haley's shoes off, then Haley started grabbing for her hairbow. Then they started telling each other about their "Da-da's" I wish I had video, it was priceless!!! Anyway, here are a few pics from the other day, I will load the rest on Picasa later. I think I have run out of space on dropshots, so I may just start posting pics to Picasa from now on. Enjoy!!!!

9 months old!!!

2008-12-03T17:19:00.004-05:00

Where is the time going??? Haley is now 9 months old, what a big girl!!! She had her 9 month check up yesterday and now weighs 16 1/2 pounds and is 28 3/4 inches long, still long and lean. The doctor is still pretty pleased with her progress. She still isn't crawling or standing yet, but he said not to worry one bit about that. Some kids just aren't as motivated or are perfectly content to observe the world around them. Her fine motor skill are really good though. She can pick up things with her thumb and first finger (the pincher grasp), she can feed herself, and transfer objects from one hand to the other. In true Daddy's girl fashion, her first words were "da-da". She started saying that the day before Thanksgiving. She still calls me "bmmmmfffff", I guess that means Mama in her language. I think she is also trying to say "kitty", she squeaks something that sounds like "diddy" everytime she sees one of them. We are also finding that some of her favorite objects aren't toys at all. She has a strange fascination with keyboards, so we took an old one and ripped out the cord and gave it to her to play with. Do we have a future ITer?