Genetics

I finally got in to see Genetics on Wednesday. Dr. Shur got pre-authorization from my insurance company to submit blood tests to the company that tests for 5 of the 7 genes associated with Long QT Syndrome.

She also found a lab at John Hopkins that we could submit to that would test for Long QT 7 (aka Andersen-Tawil syndrome).

She asked me which I wanted to be submitted for first. Depending on the results of the first we could then submit for the second. After much discussion/debate we submitted to John Hopkins first because she feels I better fit LQT7 based on my 'physical features' than the other LQT genes. I don't necessarily agree but figure we might as well cover all our bases and test for everything available.

Andersen-Tawil syndrome affects the heart, symptoms are a disruption in the rhythm of the heart's lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen-Tawil syndrome, these typically affect the head, face, and limbs. These features often include an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.

I don't have well... any of that other than a ventricular arrhythmia. But she's the geneticist so who am I to argue?

I left her office and went down to the blood lab totally ready to get poked 95 times like I always am, but the phlebotomist was really good (and younger than me, I still have to get used to the fact that I'm not as young as I used to be) and got it on the first try!

Boy was I impressed!

Now we wait 4 to 6 weeks and if the results come back negative (which I'm fully expecting them to) then we draw again and its another 4 to 6 weeks (and $5000 my insurance company has to shell out) for the other test.

If they all come back negative we're left right where we are now - no answers. Just because they don't find a documented gene in me doesn't mean I don't have LQT Syndrome - it just means they haven't found it yet and we still have to guess if Arianna has it. Guessing with LQTS is bad... cause if you guess wrong you don't always get another chance to make it right, and as a parent, thats the scariest place to be.