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Today was the big day, the saw the genetics Dr for my 5 mo old and she said with 99% certainty she has Saethre-Chotzen Syndrome and a classic case at that. There running FISH and they mentioned something about TWIST and it will be a couple weeks before we hear anything but she showed me pictures and read the list of symptoms off and I agree it does sound like her.
 

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DS is going for his tests on Monday morning.

I see that it's craniofacial malformations/fusings-do you have anything that you can start with to help now that you have this info, or do you have to wait for the new tests? Keeping you & dd in our thoughts.
 

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Quote:

Originally Posted by AEZMama View Post
DS is going for his tests on Monday morning.

I see that it's craniofacial malformations/fusings-do you have anything that you can start with to help now that you have this info, or do you have to wait for the new tests? Keeping you & dd in our thoughts.

They didn't say anything beyond here's some basic info and sent us to the lab and to get some x-rays since it feels like the sides have already fused. They did say this came from the father in my case since 1 parent has to have the syndrome to pass it on (you can't just be a carrier) and I have no signs of it. The baby has sibs from other moms and I have been studying there pictures and at least 1 other kid is affected I think based on what I learned yesterday from the Dr. What I'm reading sounds scary though as far as multiple surgeries in the first year
 
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