We saw the geneticist at the hospital yesterday and it was actually a fun appointment - mostly because I find genetics totally fascinating.
As it turns out it was more an appointment for me rather than Arianna. The doctor and I both agreed that doing all the needle pricking on me would be best - they can find out what gene I have and then test Arianna only for that gene (as thats all that would be necessary).
Getting testing for LQTS will be difficult - and I knew it would be. Its very expensive, experimental and there are only two commercial labs that will run the test and they don't always work with insurance companies - they're all for private party pay though, to the tune of $5,000!
I have some very unique physical characteristics, according to the doctor. I have a big head, ok 'above average', according to her. I also have wide spaced eyes and a high palette in my mouth - apparently all identifying characteristics for 'something' (not related to Long Qt, of course). Boy oh boy did my dad have a field day with the 'big head' comments... I'll never live that one down! (I'll admit it is pretty funny)
We got onto an interesting tangent about prematurity though - I explained the prematurity in my family(3 generations). She asked if I had preexlampsia and I said no. I know pre-e can run in families and is an easily identifiable cause of prematurity - but ours were all pre-term labor. She mentioned how some genetic lines actually demand prematurity for various reasons and they actually fare well... maybe thats us? Who knows. Of course, I don't want to put that theory to the test if we have another baby...
She called me today, while I was at work, to let me know of her progress finding a lab to do the testing. She reiterated the big head/wide spaced eyes comment. They're going to test me for Andersen-Tawil Syndrome. I already know I don't have it but at least it leaves one gene off the hook. After that testing she doesn't think we'll be able to test for the other genes, unfortunately. That doesn't sit well with me, but its all I can do right now. I hope another trial opens up at a medical school SOMEWHERE soon. I missed the trials at the mayo clinic and university of rochester in 1999 and 2002 because at that time I had my defibrillator and didn't really feel like dealing with getting blood drawn as I'm SO bad for it... I regret that decision now. In hind sight I wish I would have known how rare these trials are.
Now you've all seen my picture, it's on the right hand side of my blog. Do I look like I have a big head or wide spaced eyes? Its really bugging me for some reason.
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3 comments:
We stopped seeing our geneticist because of her "noticing" of physical characteristics. Noah has big ears and apparently his nipples don't line up. I get the big ears, but crooked nipples? They look fine to me! She annoyed me because she kept insisting that "normal" kids don't just aren't deaf-blind with low tone and feeding issues (and therefore he must have some formerly undiscovered syndrome). She didn't seem to get that every issue he has can be explained by the fact that he was a very sick 24 weeker who spent 6 months in the NICU. Here's hoping your genetics experience is better than ours!
Man! So can you still get Arianna tested for Long QT, or is that out the window too?
There are 7 genes that cause Long QT - we'll get tested for one (#7, also known as Andersen-Tawil Syndrome) and if she can find a lab that will test for the other 6 then we will but she doesn't think she'll find one that will work with our insurance :(
Its a common problem for folks with LQTS and I had a feeling we would hit the same roadblock.
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