Leahs visit with Dr. Havlik

Well we finally had a follow up appoinment for Leah to re-evaluate her cranio. We actually changed Neurosurgeons and had an appointment only with the craniofacial surgeon. The gist of the meeting- Leah is borderline mild. He wants to re-evaluate her again in 6 mos and have Dr. Smith give her opinion on her appointment in April. He seemed shocked to hear that Bob was also metopic. It was an improvement that HE actually listened. I explained (somewhat) our reasons for not pursuing surgery for Lily and that we are not open to CVR for Leah either. He was respectful however encouraged us to follow up with Dr. Smith if we were not pleased with Ackerman. I continue to feel confident that our decision not to have the CVR is the right one- but now that we are through that process I still want her to be followed by someone. We are considering Cincinnati- at least I am- I find comfort in the multitude of opinions - Bob is quietly annoyed I think. We are in agreement that we will continue to work to find the right path for our beautiful little boneheads.

This just arrived... the science hasn't...

We spoke with Dr. Griffith at Riley Genetics today. After extensive testing of all known cranio related FGFR genes the results remain inconclusive. They swept FGFR 2 completely, FGFR 1 and 3 in the "hot spots" and completed the Twist sequence whatever that means. Basically ever condition both syndromic and non syndromic that are known to be genetic were tested for and found to be normal. Clearly something genetic is amiss, however we do not have the technology to find all of it yet...
We have an appointment for Leah next week with Dr. Havlik at Riley (craniofacial surgeon). Update to follow.