Today we learned from the genetic counselor that Jack's test results indicate that he does, in fact have a mutated gene for OI, and that it is most likely type III. While there is still a huge range within that subcategory, we do know that most type III cases are more severe and less common than other types. This was not a surprise, given that Jack presented with fractures at such a tender age, but it is a bit daunting, as it could manifest in a number of ways. Type III OI patients can have between dozens and hundreds of fractures in a lifetime. They can be wheelchair bound or walk unassisted and everything in between. Jack might require rods in his bones to straighten them out. He will likely get regular IV treatments of pamidronate, a drug used to treat osteoporosis.
We don't really know what life will look like for Jack and will meet with the geneticist in two weeks to more deeply discuss what lies ahead and what steps to take.
Here's a link to a cute video we watched with the kids tonight to teach them more about their baby brother's condition.
1 comment:
i can think of no better family for your little jack. he is in the best hands. x
caitlin
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