Tuesday, January 31, 2012

Medical Update

playing and waiting for x-ray apt
As there is so very little known about Gabrielle's condition, I want to document all the information I've received from our doctors visits in the past while.  My hopes are that in documenting any information about I-cell disease, other families and doctors can learn via our experiences.  I hope one day treatments and hopefully a cure will be found.

As I write the medical information down in a very matter of fact way I caught myself many times today choking on my tears as I heard truths about Gabrielle's health that is still so very hard to hear.  I guess you just see your child as perfect and beautiful no matter what health challenges they face.

Today we had our very first appointment with an orthopedic doctor at BCCH.  Up until this point we've been followed very closely by the Oncology/Hemotology clinic and the Respirology team as her transplant and lungs have been our top concerns, but today I have been exposed to another very key team of doctors in helping Gabrielle live her best quality life: the orthopaedic team.

Up until today I had no idea what an orthopedic doctor was or even did.  I was even going to postpone the apt - thank god I didn't!  We had more x-rays done of her hips and spine and this is what we learned about our little girl.  The doctor always spews out so much information and I really need to tape record what she/he says so that I can digest it all.  I'm often lost on the first sentence as my eyes well up with tears and I try my hardest to not cry.   Thankfully, Regan was there and the doctor repeated everything to him so I got to hear the information several times.

* All of my information is in lay men's terms.  I am not a doctor, only a mother trying to advocate and learn as much as I can about Gabrielle's health!  I think I've got the gist and I'm only going to document the 'important' things that I hope will help other families and or medical professionals learn more.  

Gabrielle has scoliosis which is a curvature from side to side of the spine as well as kyphosis.  Kyphosis is a curvature of the back like a humpback caused mostly by the storage aspect of her diagnosis.  Her vertebrae were never properly formed and she has discs that are very tightly packed together.  A brace would be the only way to help her but that also has significant implications on her lungs making breathing more difficult. So no to that.

Gabrielle's bones are very porous, making them fragile and easy to break.  This is mainly because of the storage disorder, and it's made even worse due to the heavy doses of steroids during and after transplant.  Basically, her little bones are missing the 'hard cover' that covers our bones, with only the very porous 'inside' on the outside.

Her hips are doing ok right now but we need to watch that they don't dislocate as she grows.  They are already at a worrisome angle.

They are going to make some splints for her feet as they've turned out significantly. The splints will allow her feet to turn in and bear weight (precursors to walking).  She also has one leg that is longer then the other so her splints will be adjusted accordingly.

Things to work on with Gabrielle:

Head and trunk control and weight bearing activities but not too much as her bones are quite weak and she needs to gradually get stronger.  I wanted to ask the doctor, "How much should I freak out when I look over and see my 40 lb 2 year old lying on top of his little sister?" ... "No, like seriously ... should I be concerned?" ... but I didn't ask.

After our orthopaedic appointment we went over to the clinic and met with the transplant and respirology docs.  Gabrielle is engrafted only 51% and has dropped from 86% engraftment.  Why?  Our response: 51% of 'healthy' cells are better than none.

Exciting news from the respirologist - her lungs sound great, steroids were not needed to help with secretions on her last sickess-related visit to the hospital a few weeks back (YAY!) and he wants to start slowly weaning her off oxygen.  

In our last hospital admission an x-ray revealed a diaphragmatic hernia.  Gabrielle's bowel is up behind her breast bone and is causing her breast bone to push out.  The surgeon is not concerned at this point and the risks of putting her through a surgery outweigh the risks of this hernia.  It seems that this is very common with most children with this diagnosis.  

Now What? 

The most important part of this journey is always focusing on the time spent together.  As a mother of a beautiful boy from up North (with his own very special needs) said to me today,
"Enjoy all the good times that are ahead of you."  
I couldn't agree more.  While difficult, I try not to focus on the details of her diagnosis.

I focus on the amount of smiles and giggles I see on her face in a day.

I focus on the number of kisses and hugs we shower her with.

I focus on time she gets to spend cuddling with her brothers.

I focus on the miracle of her in our lives and what a blessing she's been to us, and what a beautiful world she's opened our eyes to.

When I see Gabrielle, I don't see any of the stuff I just talked about, I see the most beautiful little girl I've ever met.  

Love. Love. Love.


  1. Good for you for posting this info.....it will be helpful to newly diagnosed families. Since Ethan was never transplanted, we focussed on ortho from the start and his bones actually got a bit better from birth. So you know, Ethan had a dislocated hip his whole life...he was born with it and it never really bothered him....we never did anything about it but monitor it and he could put a bit of weight on that leg.

    Love to you guys and esp little Gabrielle!

    Tara, Scott and Emma

  2. Thinking of you guys and what wonderful parents you both are. I feel blessed to know you both.
    All my thought and prayers are with you and little Gabrielle
    xo char

  3. Your strength is amazing and you are a wonderful mother. Gabrielle is a lucky girl!!! Big Hugs!!!

  4. Thanks for sharing the medical news on Gabby from a mother's perspective. What a sweet little face on the night monitor! xoxo

  5. Brown is definitely one of her colours! So cute, I just want to squeeze her up. What a great idea to document everything you learn about Gabrielle, I know it will help others!