Tuesday, May 25, 2010

Putting All The Pieces Of The Puzzle Together

I am a research junky. I could spend hours on the Internet doing research and trying to solve a "mystery". Unfortunately though I am not a medical professional so I must defer to them for official diagnosis. Sera has seen the Geneticist, Eye Specialist, and Neurologist, among other miscellaneous doctors. We have services in place for all her "symptoms" so now we are trying to pull all the pieces together to give her an official diagnosis. There are diagnosis within diagnosis but I will not bore you with all of those. Here is the breakdown so far. . . .

Her "possible" global diagnosis is Greig Cephalopolysyndactyly Syndrome. She meets all the criteria but we are waiting for actual genetic test to come back. It is a rare genetic disorder. I believe I read there is less than 300 cases known worldwide. The prevalence is 1 to 9 out of 1,000,000,000.

I believe I mentioned before that Sera's MRI showed abnormal brain formation. This goes along with the above mentioned syndrome but also deserves it's own diagnosis. Several of the brain malformations are grouped together under the diagnosis Septo-Optic Dysplasia or DeMorsiers Syndrome. These areas basically control vision and the pituitary system.

Now we are getting to the details of how these syndromes are going to affect Sera and what her future will look like. The good news is with these "possible" diagnosis, what you see is what you get. It does not get worse but it does not get better.

I will let you know when we get official diagnosis but it will probably be a few months.

1 comment:

  1. Didn't know we were kindred 'research junkies.' :) -- Wow, that possible diagnosis is, umm, impossible to pronounce!!!???

    I'm so glad Sera has such a dedicated mom.