I’m still trying to digest all of this information…unfortunately, my limited scientific background has me flatted under a mountain of ignorance…
It would be years for me to figure out what all of this means…
I think it means that they found something, but they don’t really know what they found. We might all be in the same unknown boat together 🙂
I just know that I’m hurting and I’m tired of being sick. I know that I look healthy, but I also know I have many diseases going on inside that are being masked by my healthy exterior.
I am a hypochondriac’s dream. I am actually really sick.
(Since the fax is very hard to read, I did my best below to transcribe it…I can’t read all of it well, so some of the spelling is off–)
The significance of a variant detected in the IKBKG sequence remains unclear. The test result therefore does not allow any conclusion as to whether Hypogydropic Ectodermal Dystplia immunodeficiency of a predisposition for Hypohidroic Ectodermal Dysplaxis with immunodefiency is present.
In this patients IKBKG sequence, the most significant variant detected was c. 1056-6T>C, which is predicted to lead to a intronic mutation and is of unknown significance for Hypohidrotic Ectodermal Dyspsia with Inmunodeficiency.