Genetics Appt - Marfan's? Collagenopathies? Help me please...

October 20, 2010

Sorry we haven't been around much but I'm just overwhelmed and what little free

time I have, I use to try an de-frazzle my brain.

We had our genetics appt today. After a thorough

gestational/developmental/familial history and physical examination, the doctor

said " you are one complex little man. "

He said he has 2 possible theories.

(1) Marfan's Syndrome - but he kept saying that typically it doesn't present

this early on (Pierce just turned 10 months old) - it's like his brain was

really on the fence as to whether or not he could possibly have it or not. ---

anyone's thoughts on this (particularly if you're little one has Marfan's). He

said P's only indicators, thus far, of Marfan's are macrocephaly and scoliosis.

(2) Collagenopathies - he said there are multiple types and if we were to have

one then we'd be left with the question of " well now what " because there is no

cure/fix. Anyone's thoughts on this as well?

He wants to consult with our orthopedist.

He reviewed all the labs, reports, etc I sent him. I know I mentioned on here

before that Pierce's CT scan showed prominent cerebrospinal fluid spaces

overlying both frontal lobes - he pointed it out and said some would call is

benign external hydrocephalus - he said in and of itself, it's harmless but we

have to be careful with falls (ie hitting his head) because with the extra CSF

the brain has more fluidity to move which would make him more susceptible to a

potential bleed.

We had a microarray done today and we'll have the results in a few weeks. I

think pending those results will determine if we move forward with Marfan's

testing and tissue testing for any collagenopathies.

We see Dr. K in AL next week for P's first cast. I'm nervous. The idea of it is

starting to make me sad. I think I'm just really stressed though. I just want it

all to slow down and I feel like it's bump after bump in the road at times.

We see a neurologist on Nov 6th or 8th - I don't remember (his appt got bumped

due to a scheduling conflict).

I think that's it.

I know I may not post or respond but I read everyone's posts daily (in my spam

box and inbox lol) and I pray for all of your little one's. One day it will be

easier, one day.

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