In my previous post about what I learned at the ADA Scientific Sessions about MODY, I alluded to my own suspicions that I myself might have MODY (MODY-2/GCK in particular). You can read more about MODY in my previous introductory post on the topic. I first became suspicious more than five years ago, but my requests to my doctors were all denied. I was basically told that I didn’t fit the basic screening criteria. I made several personal contacts to Kovler asking for their assistance or their referral to a doctor competent in MODY diagnosis and treatment in my area. I actually emailed the principle staff, but my emails went unanswered. I then tried to enroll in trials, but by this time I had started insulin so I was rejected. Apparently there is a belief that insulin is not effective (which we will debate later). And I’ve been seeing my current endo for 4 years and she is a real patient centered doctor, so she always listened attentively to my requests for MODY testing, but she always felt that my successful treatment with insulin contraindicated MODY-2.
But at my appointment in April of this year things had changed. New screening criteria had been released by Kovler that explicitly suggested that chronic high fastings were suggestive of MODY. And there are other things about me which are confusing, such as my seeming total invulnerability to hypoglycemia despite very tight control (my last HbA1c was 5.0%). Sure some of it may be attributed to my strict regime and very low carb diet, but still, no hypos over a whole three month period? And I can start feeling hypo at anything below 120 mg/dl. So on April 29th, I walked out of the door with a requisition form for MODY testing. AthenaDiagnostics appears to be the only commercial lab in the US doing MODY testing. This post is about my journey to get that test done.
Do you consider that a good thing or a bad thing? Many years ago when I was out of control, dropping from well above 250, quickly, caused me to have terrrible hypo symptoms often when I was still above 170-190. it was the pits! Now I never feel low if I’m above the mid 60’s.
It is true that if you become accustomed to high blood sugars then what would be a “normal” blood sugar can feel like a hypo. But that is not my case. It is only a concern for me because it is a functional hypo unawareness. I wouldn’t be able to tell the difference between a blood sugar of 50-60 mg/dl and 100-110 mg/dl. I can’t be just testing every time I feel hypo only to find myself not really hypo. So I have to walk around often feeling hypo even if I am not. If I had a real hypo I would probably ignore it.
That’s a bummer! I can relate, remembering how I felt years ago. Thankfully, now when I feel hypo, I’m always actually low. When I’m really really busy, I even ignore the mild hypo feeling because I’m so sick of dedicating so much of my time to treating diabetes, so as long as I don’t get lightheaded and uncoordinated, I tend to keep working until either symptoms worsen or I get to a stopping point in my activity. I can do that because my lows are usually much slower to progress. I still am amazed that sometimes when I test upon arriving back home from either a long walk, or just out shopping, that my bg’s are in the 60’s, because I felt fine while out and about. Years ago that would never have happened–I’d progress very quickly to severe lows that needed immediate treatment.
But really, underneath it all is a question about myself. Who am I? I’ve always felt that “Diabetes Doesn’t Define Me.” Some people argue that it doesn’t define us, but it helps explain us. But this has caused me to personally question that. Those of you that know me realize that I am an advocate for the Type 2 community. What happens to me if I find out I don’t have Type 2? Can I still be an advocate for Type 2 or will it change me? Maybe in some way my diabetes does define who I am.
I would be a different, though similar, person without my T1D diagnosis for just over half my life. Just as many believe that a person’s physiology is the result of the combination genetics and the environment, I think my character is the result my physical body and the environment I live in.
Diabetes represents a strong adversity that carved my personality over time in a specific and fundamental way. But I willfully chose to respond to that adversity in ways detrimental as well as healthy. I am the some total of that adversity and the choices I made/make as well as all the other ill and fair winds in my life.
Brian, no matter the ultimate diagnosis, you will still have some form of blood glucose metabolic anomaly. Your tactics and attitude in dealing with this adversary will still be germane to this community.
I don’t dispute the veracity of the “your diabetes may vary” sentiment, but I think it can inhibit recognition that many facets of my diabetes are the same or similar to others. While I can see the differences between individuals, the most potent lessons for me come from where I resonate with another’s experience, where my diabetes and their’s are the same.
Good luck with whatever you learn, Brian. Knowledge is power and you will know more, no matter what the results reveal.
Every time you post here I get excited thinking you’ve finally got your results back. I’m really grateful you’ve pursued these issues so vigorously and been so transparent about it, you’ve definitely helped me think through my own recent MODY-2 diagnosis, and I’m looking forward to continuing to engage once you get your results.
It actually took 2.5 months from blood draw to having my results in hand. But I think at least a week or two of that was my doctor’s office dropping the ball on the info they’d received.
Since I have a novel form of GCK-mutation, the results were specified as indeterminate, but the Kovler folks said about 1/3 of MODY-2 folks present with mutations not previously reported in the literature (I guess there are many ways to string together ATGC), and they felt quite confident categorizing me as MODY-2 based on both the location of the mutation and my presentation.
Brian. I do understand the issues. I have always felt my mom might have been MODY, but that is long past and frankly it really no longer matters. Knowing however, might help my grandchildren if they face diabetes or my sons (mid 30’s) if they face these issues. I suspect if I were being Dx’d today it might matter to me, who knows. I do think this is a very interesting discussion.
At any rate i hope you get the correct Dx and I hope it is sooner than later.
