Alphabet Soup

It was another "deep" day with a new genetic team today. Back up on the hill at OHSU, we met with the director of the genetics program, a genetic counselor, a pediatrician, and a pathologist. Fun fun. We really are running out of tests for Jordan, but I have a few I still want to pursue, so we keep plugging along. . . .

But today something different happened. After the team had given Jordan a look, they left the room to do some surfing, and came back with an actual possible possibility. I have to agree that the description fits pretty well, so now we're going to test for it. I had even read a little bit about this "new" disease recently, but had not followed up on it because Jordan does not fit the criteria for the "original" disease. But, since I'm not a geneticist, I guess I didn't read the fine print well enough.

The disease is Rett's Syndrome, and the variation we're looking at is a deletion or addition to the CDKL5 gene, instead of the standard MECP2 gene. The characteristics are aquired microcephaly, infantile spasms within the first 6 months of life, and severe developmental delays in female patients. Fits little miss Jordan to a tee.

So, first we have to wait for approval for the test, then the results will take about a month. And in that time I'll have to fret about whether I "want" her to have it or not; whether I want to know if she has it, or not. It's definitely a double-edged sword.

The doctor did make a good point: Even if she has variant Rett Syndrome, we still will not know the prognosis for her future, and there still won't be a cure. So, we'll be right back to where we are now. We'll just know the why, finally.