Madison's Diagnosis

I have been wanting to write this post for a while now, but just haven't been ready to share what Madison's diagnosis is. She has a genetic abnormality, and when we first found out about it when she was in the NICU, I was very upset about it. We didn't tell anyone except close family. I have told a few people about it since then if it has come up in conversation, and some of you may have assumed something based on all the issues she has had. I was just so afraid that she would be treated differently if everyone knew, but the truth is, she is treated differently just based on everything that has happened in the past 14 months.

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 :)

Lots of Appointments!

This week has been really busy so far. We had 4 doctor's appointments between yesterday & today. Between the 2 days, we also have added 3 new doctors / specialists we have to go see in the next month.

Madison's pediatrician referred us to an eye doctor at Vanderbilt to get her eyes checked out. One of her eyes always runs, so I'm afraid she has a clogged tear duct that she never grew out of. We also are going to have her vision checked.

Then today she had another swallow study done. She never has had a clear chest x-ray so they are thinking she may be aspirating some. The study showed that she did aspirate some, so we are going to have a feeding evaluation next week & probably will be going to a specialist for feeding therapy after the evaluation.

She's also going for a speech evaluation towards the end of September.

Lots & lots going on :)

On a side note, she took a few steps by herself yesterday! She's getting closer and closer to walking! It cracks me up because she knows she did something too & she gets so excited! Love my sweet little princess to pieces!!