Thursday, September 4, 2008
We have a diagnosis !
Acrodysostosis
You can click on it to read more about it.
This is what they have discovered Andrea has. It is very rare. There are only 70 reported cases known. Well 71 now counting Andrea.
It is where there is achon facial, hands, and feet features . It is not hypo because of the shortening is in the lower part of the extremities.
The down side of this dysplasia is that 75% of the children with it have some form of a learning disability.
We will be taking her to another Dr. to be evalutated for that.
The sad thing is nothing like this is near where we live. We have to drive over 2 hours to see someone just for an evalutation. I am totally wiped out from traveling.
I am thrilled that they have figured out what it is that she has. It has been a long process for all of us. We will now know how to meet Andrea's needs educationaly. and medically.
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3 comments:
I'm so glad you guys have a diagnosis, but I also know how hard it is to hear that your child has something so rare. Kaela is one of 82, so not much more then you guys now. It is hard for so many reasons, and for us Kaela has a severe form of dwarfism with many medical problems. It can be hard because there is so little out there about it and as you said you have to travel to see docs. It's about 12 hours for us to go to Dupont, which is where they have seen more cases then anyone else and know the most. While it's hard we also realize how special our babies are! Think of the odds and how amazing it is that we were chosen for something like this. You have dwarfism which is so rare, then these kids who are almost 'one of a kind,' in the literal sense. I am so glad you have an answer and can move forward with that. She's such a cutie pie. We sure feel lucky to have 'met' you guys :)
OMG! At least you have a diagnosis-a building block in which to start learning more about Andrea. Don't try to focus on the negative-Andrea may surprise you as she has so far.
Andrea is such a special little girl.
Your blog keeps getting better and better! Your older articles are not as good as newer ones you have a lot more creativity and originality now keep it up!
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