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!

Loving the Spring Weather!

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

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

2 Year Stats

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."