She has 16q22.3-16q24.3 duplication with attachment to a derivative chromosome 7. What does this mean? We have no idea. Vanderbilt has no exact match for this mutation for anyone else in their system. (So don't try to Google it because you won't find anything that is relevant). Our geneticist made sure to make that clear to us when he first evaluated Madison.
The only things we know for sure are that this mutation caused her to only have one kidney, and she has a 50% chance of passing on this mutation to her children. I also have some suspicions that her sleep apnea, respiratory issues, and slight development delays could be attributed to this. However, we have no way of really knowing that for sure. Jake & I both had our genes tested, and ours were normal. So any future children for us shouldn't really have a chance for this mutation.
Her prognosis from the geneticist we see is really good. He doesn't expect her to have major issues that he can foresee right now. However, the scary thing for me is we just have to wait and see what may or may not happen. She has done pretty well so far considering everything she's been through, so I'm just hoping that things continue to improve for her.
If anyone has questions, feel free to ask. I just felt like it was time to not be afraid to let people know the underlying issue that we haven't really talked about much. I'm comfortable with it now & know that she really is one of a kind :)
Everybody with a child believes their child is more special than anyone elses, but you guys have science telling you that your daughter is unlike any other they know! Madison is beautiful and lucky to have such wonderful people as parents. We need to get our girls together sometime.
ReplyDeleteThank you so much, Josh. I really appreciate that. Your little girl is so precious - we definitely need to get together & let them play soon!
ReplyDelete"I'm comfortable with it now & know that she really is one of a kind :)"
ReplyDeleteYou are a wonderful, brave and loving mother, and I would add to your post, Maddie has "one of a kind" parents. God's got this, and He's got His hands on her physicians and her parents, and is guiding them and all who love her and you. Now that you have a diagnosis, even if there isn't any information out there about it, you can breathe a tiny bit easier. She's a remarkable little girl, and she's going to be just fine!
Thank you Cheryl!!
ReplyDeleteKristen- I can't begin to understand the fear you've had through this time and courage it took for you to share this! I hope you have peace in knowing that Madison's diagnosis is in no way a surprise to God. That's what makes her even more special!! God knows exactly how He made her even if the specialists can't figure it out! And He knew what great parents He was giving her! You all will stay in my prayers!
ReplyDeleteThank you, Casey! :) I've been thinking about you and Will also & have been following your adoption journey!
ReplyDeleteHi Kristen, our 9 month old is not yet turning over and has been missing his milestones. He has a duplication in the 16q chromosome as well. Was Madison dlate in her milestones as well?
ReplyDeleteVivek
She has been delayed in a few of her milestones, especially gross motor & communication. She's caught up for the most part except for communication.
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