Monday, July 20, 2015

The Results are In - Does Brian Have MODY?

I had posted before about getting the MODY test, a test that would determine if I have an infrequent form of diabetes that is due to a single genetic defect.  The results of this would explain why I never responded to Type 2 medications and why I always have had a chronically high fasting number.  I had been asking for this test for more than five years and finally been granted the test.  I got the test in May of this year and had waited for nearly two months for the result.  My feelings on this matter have been mixed.  I have always wanted a better understanding of why I got diabetes and exactly what kind of diabetes I actually have can make a difference in assuring I get proper treatment.  But on the other hand I have spend the last decade with an Type 2 diabetes.  I know that we say that "We are Not Our Diabetes."  But type 2 diabetes has become part of my identity and my efforts to advocate for type 2 diabetes would just seem so shallow and hypocritical if I don't actually have Type 2 diabetes.  So if you, my attentive readers wish to learn the results of my test, you will just have to read on.

AthenaDiagnostics MODY Report
Well, now that you have gotten this far, I'll not keep you waiting.  I was tested for MODY-1,2,3,4,5 and 8.  I had thought that I fit the model of MODY-2 (GCK) but at the encouragement of my endo I selected all the tests.  You can see the result shown at the right.  I am negative for all six forms.  So what does this mean?  It means that I don't have any of those six forms of MODY.  This is like a scientific study that has a negative result.  It rules out a diagnostic possibility.  It doesn't mean that I don't have some other form of MODY and it doesn't tell me whether my diabetes is primarily genetic.  And it doesn't tell me whether I am T1 or T2.  All it has done is rule out one possible diagnostic explanation of my diabetes.  Chipping away at the monster boulder of my diabetes that inside will reveal the true nature of the sculpture that is my diabetes.

So how do I feel about this result?  I have to say, I'm still not sure.  When I had the antibody tests for Type 1 diabetes I went through the same sort of thing.  A positive antibody test would have given me a specific diagnosis with an identified course of treatment.  And it would have also changed the way I identify myself.  This will take me some time to process.  And I've felt diabetes diagnosis for a long-time has been really messed up.  Researchers have identified numerous defects associated with diabetes.  Everyone readily admits that Type 2 diabetes is highly heterogeneous (having many kinds).  And even Type 1 is heterogeneous.  And my endo still continues to call me an "Ideopathic Type 1."  Dr. Bill Quick has commented on ideopathic type 1 and the rather vague nature of the description.  There are just very poor clinical diagnostic tools for diagnosis.  And I am personally a bit torn about being put in this ideopathic Type 1 category.  Given the way that diabetes is diagnosed, Type 2 diabetes is a diagnosis of exclusion.  It seems like just another game to create a category of Type 1 diabetes which is yet another diagnosis of exclusion in a way that can't be differentiated from Type 2.  But my endo has a reason for this.  As a Type 2, I can be denied treatment simply because of the label.  I can be denied insulin, insulin pumps and CGMS.  So it is in my best interest to be labelled in this way.  So I've learned that I do not have autoimmune T1 and I don't have MODY.  And although my endo has given me a label of ideopathic Type 1 playing on the confused morass of diabetes diagnosis, I still consider myself a Type 2.  I have Type 2.

6 comments:

  1. Thanks for letting us know. I added you blog to my 2015 blog list today. I help up waiting for your answer on the test.

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  2. Thanks Bob. I probably would felt really lonely being the only member of the MODY-2 blog list anyway.

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  3. Hi Brian,

    Good to see you on the plane to New Orleans this morning. I'm glad you will be covering the AADE meeting on your blog. I'll keep checking back. I found this discussion of MODY interesting. Thanks for sharing....since I haven't been following your blog does that mean you've already discussed LADA with your endo? I've had quite a few pts ultimately were diagnosed with Type 1 1/2 (LADA).

    Lori

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  4. After years of asking I was finally granted the tests and they were negative. Given the consequences of misdiagnosis, I believe every newly diagnosed patient should be given a T1 panel

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  5. Just be glad your endo had the presence of mind to diagnose you with idiopathic type 1 rather than just the default diagnosis of type 2 in the absence of antibodies. We really should be using insulinopenic vs. insulinotrophic here anyway. So you're insulinopenic and that's a good start right there as far as knowing how to treat you, and we could do the same thing with insulinotrophic diabetes perhaps, and not treat them as if they are the same condition as we generally tend to do.

    Now as far as coming up with a cure well it's not that they have one for autoimmune insulinopenic diabetes anyway, as the issues behind non autoimmune may likely be easier to fix.

    Thanks for the link to that piece by Dr. Quick and continued success!

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  6. Brian - So glad to read of this progress. I, too, am of the mind that Idiopathic T-1 represents major progress vs any kind of T-2. Also, I seem to recall that you were turned down by Kovler for inclusion in their panel. They have Identified something like 16 genes. I am wondering whether they might be willing to take you at this point now that you have been categorized an "Idiopathic T-1" by your Endo. My Endocrinological Nightmare arms to have finally settled down - will post separately on that. And I am putting the pieces of my life back together. Best to you and all on the site, Anni Macht Gibson Dx 12/23/10

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