LOGEN DOES NOT HAVE ANGELMANS!!!!!!!!!!!!!!! Or CP (confirmed by yet another Doctor)
The newest Dr on our 'list', the Geneticist. We really liked him. He was straight forward. We have never had a Dr say that all of Logen's 'weird/abnormal' th ings must be related. Thank you Lord. How do you have a child that is non-verbal, developmentally delayed, begins seizures at 4.5years, and has a lipoblastoma- and some how these things just happen to the same child? No... the lipoblastoma in itself is very rare. We've ruled out Angelmans. We've ruled out CP. The Microarray came back normal. The next round of testing is below. Let me tell you, I tried to research the groups of disorders. There wasn't much info out there. The results will be back in 6-7 weeks. Until then, we just pray.
Prayer warriors- Lets Get Our Prayer On!!!
Testing: Round: Momma's lost count...1) PTEN Hamartoma Tumor syndrome (PHTS) is a group of disorders caused by alterations in the PTEN gene. This group includes:
Cowden syndrome (CS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Proteus syndrome (PS)
Proteus-like syndrome
2) Aristaless related homeobox, also known as ARX. This can be broken down into sub categories, with rare syndromes, etc- theres not a whole lot of info out there on this (that I was able to find). Partington Syndrome is one name I found.
3) RETT
Jess - I am so glad to hear it is not Angelmans. You must have been so glad to get that news, even though it sets off a new set of questions.
ReplyDeleteI continue to think of you guys and pray for you.
Glad to hear it's not Angelmans. I know that had you real worried! And I'm thrilled to hear he's doing so well after surgery. Keep the good news coming!
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