Friday, February 12, 2010

Findings from the neurogeneticist

Over the "snow break" I did hear back from the neuro and the genetic counselor. I had e-mailed them to get the results of her genetic screen, EEG and blood work. This is what they have "discovered".

Her EEG was normal but they remind me it was only a 20 min awake EEG and the fear was more for night seizures. This is something we will adress when we go to the sleep clinic (yay, another appointment :roll:).

Her thryoid test was normal but the doc still has suspicions about something metabolic or endocrine, so we have to see an endocrinologist to boot.

The last thing was her genetic screen. Everything was normal but (again) they reminded me that they were looking for major deletions or mutations not smaller problems. Thankfully they are going to let that issue go so we don't need more testing.

So as seems to be par for us we have another list of questions and doctors but very few answers. They finally understand at the neuro clinic that I am only willing to pursue those issues that could cause harm to Abby. Simply looking for a why at this point seems very tertiary to her current health and her future health. We have to pursue sleep because it could detect seizures AND/OR apnea. The endo is obviously necessary for her lack of growth. We now know that there is no chance of any form of dwarfism (which was becoming a suspicion) so we are looking at restricted growth.

Guess I know what I will be doing with my free time this week...

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