Last week we took Isabelle to the geneticists at Phoenix Children's Hospital. The doctor was hoping we would find a link tying together all the different things that have been happening with Isabelle. After studying everything he felt 100% certain that she has Kabuki Syndrome. It is a rare genetic disorder that only 1 in 32,000 children have and has only been discovered in the last 20 years, so it is considered fairly new.
Heart defects, seizures, hypotonia, feeding difficulties, certain facial features that Isabelle has, gross motor delays - all these things that have been happening with Isabelle are a result of Kabuki. Our worries are other problems that children with Kabuki have and that could occur with Isabelle - children with Kabuki are prone to infections, kidney problems, hearing loss, bladder problems, growth problems, and other problems. What scares us the most is that 90% of children with Kabuki have mild to moderate learning and intellectual disabilities. The doctor said it's too early to know what Isabelle will be facing, other than the difficulties she has already had, but he said we should prepare ourselves for the possibility that she will have learning problems and may never be at a stage where she can live and function independently. We don't know yet, but he said we need to prepare ourselves for what could possibly happen.
We only found all of this out this week, but we've spent much of the week in tears. There are so many frightening possibilities and we weren't prepared for this at all. It isn't a genetic disorder that Isaac or I carry the genes for and if we have more children our chances are still the 1 in 32,000 that the child will have Kabuki. However, since Isabelle has it, if she has children, they have a 50% chance of carrying the disease.
Right now we're just asking for everyone's prayers. We will be continually be praying that Isabelle will have a mild form of Kabuki and that it will not affect her learning abilities and that she will be able to live a full life, without this disease holding her back. Please pray with us for her and for us, that we will be able to deal with this and accept whatever may come as a result.
2 comments:
This has had to have been such an incredibly hard and frightening roller coaster for all of you. While you will continue to have ups and downs as Isabelle grows and you get more answers, I hope you’ll all be able to find a sense of peace and comfort along the way. It’s so hard to watch a child’s future change right in front of you and it will take a lot of strength to simultaneously accept answers while still holding out hope. Ours prayers will be with all of you for Isabelle’s continued progress and peace and strength for you and Isaac.
You are always in my prayers. I love that pictures!!!
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