We have an appointment for the geneticist..in May.
In speaking with the genetic counselor, being homozygous A1298C is nada, nothing, zilch.
They do want to check her homocysteine levels, but apart from that, they say just having this mutation means nothing.
We do need to push for more research, as there is scant research on these mutations.
Still not going ahead with another revision, I just cannot do it to her. We are getting her checked for EDS as there are some warning signs in the family history that could point to this being a reason as to why she is such a slow healer.
Sent off my 23andme test, now have to get the kidlets to spit in their tubes and send those off, that will be interesting!
Found a great study - Craniofacial expression of human and murineTBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
http://hmg.oxfordjournals.org/content/11/22/2793.full
This will be my homework tonight, as I have three kidlets running around and thinking is nigh to impossible right now.
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