Living with JS, a year later…..

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!

2 Year Stats

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

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

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.

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(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 Ayden Whitaker 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!

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

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."

Movin On UP!!!!

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!!!

Starting to Get the Hang of This

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

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.

so....about the conference

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

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

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.

Recent Developments

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.

Whats Been Goin On???

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!!!!

Welcome to Holland

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

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.

Look What I am Doing!!!

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!!!

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.

More appointments

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.

Week 2 of Physical Therapy

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!!!