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.