Got my Gene Test!

The big excitement here is that I finally found a MODY researcher who not only offered me and my daughter a free gene test, but also agreed to share the results of the gene test with us. This is big news indeed.

Not only that, but if I don't have the version of MODY he thinks we have, he said they'd look further into what is going on, genetically. Given that a single MODY gene test can cost $500, and we have gotten conflicting stories from experts about which gene we have, so we'd have to test a few and even then the results might mean nothing, this is like hitting the lottery.

The only other MODY study I found, one being done at Joslin, would have enrolled us in a study if I could have recruited half a dozen relatives, but they were not wiling to share the gene test results, and I don't have that many relatives who would have participated since several of my cousins are adopted.

The gene he is testing is for MODY-2, the form of MODY characterized by a Glucokinase defect. I had previously been told by another researcher that my history sounded suggestive for MODY-1, the HNF4-a MODY, but the second researcher thought that MODY-2 was more likely. Since that is what he is studying, I'm not going to talk him out of it.

The test involves spitting into a little vial, which sounds easy though you'd be surprised how long it takes to get enough spit to fill it. It's going into the mail today and my daughter is sending hers in too. She's the thin, fit, punk fashion model whose blood sugar stays in the 130s for many hours after eating carbohydrates.

I can't wait to find out the result. It would be SO nice to finally have a firm diagnosis, whatever it turns out to be.

BTW, my email box this week has been full of notes from people with family members diagnosed with MODY-2 who seem to have read my earlier blog posting about MODY-2. I have been sending them along to the researcher at his request.

UPDATE: Well, I didn't have the genes they were looking at--probably MODY-2, and the recruiter seemed to lose all interest in me after that. I couldn't find out anything at all about what they'd actually tested for. So that turned out to be disappointing.

For now, I'm not obsessing about it. I've got some kind of insulin sensitive diabetes I've had since I was a 108 pound twenty something (I did get THAT GTT test result). I'm very sensitive to prandin and sulfonylureas. I have a very high renal threshold for glucose which probably rules out MODY-3 So I probably have either the HNF4-a MODY or some other HNF4-a defect which causes the same kind of blood sugar dysfunction. And whatever the diagnosis, I know what I have to do: keep my blood sugar as normal as possible to avoid complications.