October 11, 2007

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.


Andrea said...


I recently found your blog and love it.

I am a type 2, diagnosed in 2001 after insisting on a GTT. I am of average weight and have FBGs under 100 but go way above 200 when eating a single slice of "healthy" whole grain bread. I am Jewish and both of my parents were type 2s.

How do I go about finding out if I have the MODY defect? Although I maintain good control using a very low carb diet (no starches) and metformin, I would like to know because of my grown children who are already showing symptoms of hypoglycemia. I also have the "curious" gene and love to find out how things work. I would be willing to pay but do not know where to start.

Thanks again for all of the great info that you share with us.


Jenny said...


Email me by following the link in my profile and we can discuss this further!

micksmixxx said...

Hi Jenny,

I've just found both your blog and your website. Although I'm Type 1, and have been for the past 27 years, I'm really interested in learning all that I can about diabetes in all it's forms.

I do hope you're going to let us all know the results of your MODY Gene Test ... not necessarily the full details, but which type you are found to have.

You can bet I've got you well and truly placed in my favourites [favorites] and will come back regularly.

I wish you, and your daughter, the very best of luck.

Lots of Love and Light.

x x x x
x x x

Jenny said...


I'll certainly keep everyone posted on the results of the gene test. The good thing is that I was told that if I don't test for MODY-2 they will investigate further to see what it might be. There are a few other possibilities.

Whatever it is, I have a good handle on how it works and how to treat it, which is the most important thing. With insulin I can live a pretty normal life, food wise and after 7+ years of eating extremely low carb and still not getting normal numbers, that is a nice change.

C said...

Very interesting! I am thin, have prediabetes and hypoglycemia and use Humalog. My four year old non-obese son had a GTT with horrible numbers at the pediatrician's office but the pediatrician wasn't concerned and the pediatric endocrinologist refused to give a GTT and refuses to acknowledge hypoglycemia or any condition! So frustrating! She said Mody might be possible but refuses to order a test. How can I get in contact with someone to find out more about how to get a Mody test for myself or my son? It would probably be type 1, 3, or 5. Thanks! Carolyn

Jenny said...


Please email me using the link in my profile and I'll tell you what I know.

Blog comments aren't the place to conduct substantive discussions.

Molly said...

Thank you for writing about MODY! I have been researching online for months to learn what type of diabetes my son may have. He was dx'd as a type 1 when he was 3, but has not taken insulin ever.
He has had a second opinion and told "No Type 1" but no other answers.
I found a Peds Endo at the U of Chicago who is involved in a study on Monogenic Diabetes. She thinks my son has MODY (did not specify type) and invited him as a participant. We were going to have him tested when financially able, but she offered free testing for all 4 memers of our family. We sent spit around Thanksgiving and were told to expect results in 5-6 months.
Since then, my daughter (2 yr old) has been having mild hyperglycema.
I am anxious to hear what type they find, if any.
I also feel like we won a lottery :)

She said that they can't technically give us results, but will tell us to have further testing for a specific type of MODY. That will be our unoficially official result. :)

I reaize you wrote this a couple years go, but Thank YOU! I rarely come aross anyhing that s realavent to me. I had to stop and comment bu will finsh reading your blog now :)

Jenny said...

Unfortunately, after I got into that study, which is the U. of Chicago one, they only determined I didn't have MODY 2, which I already knew. They managed to lose my daughter's sample, and I ended up no further than I'd been before as I knew I didn't have MODY 2.

A recent finding (2010) is that MODY-3 can be screened for using a hs-CRP test (cardiac specific C-Reactive Protein.) In MODY-3 it is very low for genetic reasons (which probably means it isn't a good index into cardiac inflammation in people with those genes.) Mine is very low, so that was another data point pointing to one of the HNF MODYs.