100%, 80% of the time

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

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!

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

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

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

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!

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

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……

……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!