I still have not really processed it. I’ve long wondered whether I actually have Monogenic Diabetes, in particular a form called MODY-2. I had my regular appointment with my endo yesterday. I had met with her in February and again we talked about MODY testing but she dismissed my request again with the claim that I couldn’t be MODY because I was on insulin. This is the same thing Kovler had told me. But @niccolo’s story gave me inspiration and additional knowledge, many thanks to him for the active discussion. I did more research and armed myself with a set of papers that all indicated that sufficient doses of insulin did in fact lower the fasting blood sugars of MODY-2 patients. But I didn’t even get that far, in a sudden turn of events she handed me a test authorization and I’m now getting tested. After literally years of asking, why all the sudden am I granted this test? I have no idea. I’m still just processing this. I’ll write more about this as the story unfolds.
I wish you the best of luck Brian. I know how you feel–the not knowing weighs heavily on your spirit. Maybe with this test you will have some answers. And a shout out to Niccolo for inspiring you to try again. I think that’s what makes TuD so special. The support and inspiration we give each other.
As I said previously in another context, doctors are the new inscrutables. 
Well, one of them at least …
Great. I assume you got a test requisition for the full Athena MODY panel, and not just MODY-2 (also called GCK-MODY)? If possible, I’d do the full panel because it’s possible you have another form of monogenetic diabetes (my best guess is you either have another form or you have MODY-2 and concurrent more conventional T2), and once insurance pays for one genetic test, they’re unlikely to step up and pay for others. Also, most insurances don’t cover this testing, I think, so just because the doctor authorized the test doesn’t mean you’re all set. My insurance sent me a very odd letter spelling out that they didn’t cover such testing, and then at the end, it basically said, but your doctor said it’s necessary, so we’re covering it. Also, if you do get the testing, keep in mind that many people present with novel mutations, so your results may be “inconclusive” but a knowledgeable genetic counselor, like the Kovler folks, can still draw robust inferences from the results. Will be curious to hear how this evolves!
Yes, she basically just signed the form and said whatever I wanted. So I’m getting all the forms that Athena tests for (they don’t test for all known forms). And I actually called my insurance company up and asked about coverage. I thought I would have to get a letter of medical necessity and get pre-authorization or be at risk of paying out of pocket. Instead they guided me to the Aetna policy bulletin which basically says that if it is coded (ICD-9) properly then it will be covered at 100%. It turns out MODY testing is approved for Type 2, but not Type 1. I frankly could not believe it. I still am not sure I believe it. I would not be surprised if I got push back as you suggest. At least in my case my endo continues to not understand my diabetes.
That’s great that she gave you the go ahead finally Brian, and that your insurance covers it. I would ask her what changed her mind? I hope you get some answers from this.
I didn’t grill her on how her thinking changed the reasoning she provided to me that I am atypical. My A1c was 5.3% and we had the hypo conversation again. And as usual I told her that in order to have a hypo problem you actually had to have a hypo and I pulled out and showed her that I had not had a single reading below 70 mg/dl in 90 days. I am a man of unusual resistance to hypos. And then there is all the other stuff, she is still alarmed at my LDL (I refuse cholesterol treatment) and my polycythemia and my failure to respond to oral medications. So when I brought up MODY again suddenly she said “that’s a good idea, a genetic factor could explain all of this.”
Their’s not to reason why, their’s but to do and die
Just be aware that there are more forms of MODY or oddball genetic diabetes in general than are identified by the Athena panel. I have heard from several normal weight people diagnosed as Type 2 who are insulin sensitive and don’t respond to orals and have strong family histories of both Type 1 and Type 2 (a common MODY family history) who took the tests and didn’t test positive for anything.
Some years ago someone at Joslin told me that they believe there are probably another 100 genes out there that produce these kinds of diabetes that haven’t yet been identified.
This is particularly true of people who are not of Northern European extraction. Most of the forms of MODY known now were identified in the UK.
Hoping you do get an answer!
Congratulations!?!
Maybe the new AACE guidelines, or maybe your previous visits get her mental wheels turning??
Seen above the sink in the kitchen @ my summer Boy Scout camp:
Ours is not to question why
Ours is not to do or die
Ours is just to wash and dry
@Jenny, you are correct, Athena appears to test for MODY-1, 2, 3, 4, 5 and 8. Depending on who you talk to there are many other forms and the list is sometimes conflated with neonatal genetic conditions. And then even within a particular form like MODY-2 (GCK) there are different ways that the a defect can be present in the gene. And then to just pile it on, this is a gene and the way the gene expresses itself may have great variability. I’ve read all the stuff from Exeter and I agree with you, they have been the worlds leading monogenic research center so we probably have the best information from the populations they have been working with.
So I’m trying to have reasonable expectations. Maybe I will get a specific MODY-2 identification. This is something that brings be a little dread as it means my children have a 50% chance of being MODY-2. And all my relatives with diabetes would have suspected MODY-2 as well as their kids being at risk. I may also get an answer that I have a defect of some kind (not MODY-2) but it might not inform me of much. And I may also get a finding that no defects were found. Which may only mean that I don’t have any of the “known” defects, not that I don’t have a genetic defect. In which case I will remain Type 2, which simple means Diabetes of Unknown Cause.
I think the AACE has done a poor job of covering Monogenic Diabetes (MD) in their guidelines. The only real change from their 2011 guidelines in their latest was to suggest that the MD diagnosis should be considered in “young adults” with atypical presentation. At least they recognized that it isn’t just babies and children. MD is a permanent life-long condition. As I’m sure @Jenny will attest, there are good reasons to consider an MD diagnosis for atypical patients at any age.
I also consider the screening criteria previously propagated by Exeter and Kovler to be fundamentally flawed and ineffective. It seemed designed to minimize false positives, thereby minimizing how many tests are performed. Most screening methods should try to achieve high true positive rates with management false positive rates therefore assuring that most patients who have the condition are actually tested. It seems to me that the current screens may actually leave 90% of patient with MD untested. Fortunately both organizations seem to be moving more towards screening that is more appropriate but none of this is making it out into clinical practice guidelines. The only reason my endo seems to know much about it is because she on the faculty at a well recognized university and is active in AACE.
The other interesting question is what you are hoping to do with the information. Obviously you can just wait to see the results, but even if you have a GCK gene mutation, it sounds like you have some more conventional T2 characteristics and your BGs respond meaningfully to treatment. So there may be a stronger case for treatment in your case than there is for many GCK-MODYers. It’ll be interesting to engage the Kovler folks after your results come back, too.
So if you have this variant of Diabetes, how is your treatment different. My Dad had diabetes, his Dad was a type one, 4 of his siblings had diabetes and me and one sibling has diabetes, and two of my kids have it, so I’m just wondering , , , yeah i inherited the yucky stuff, can add heart attack and CAD to my list.
Hooray! It’s wonderful that your doctor was willing to listen and try to get you the information you need. Extra information is rarely a bad thing. And it may open up different treatment options for you, either now in in the future. Will be interested to hear the results.
The biggest problem I see with the MODY-2 diagnosis is that too many doctors buy into the idea that they can ignore MODY-2 because it doesn’t cause the classic diabetic complications. And they tell patients that they can’t lower blood sugar, so why bother.
But what I have heard from the people with MODY-2 diagnoses who have replied to my data collection request (on my web site) is that cutting carbs DOES lower their fasting blood sugar, even though they were told it won’t.
And I am also hearing that their families get those early onset fatal heart attacks, like the ones that run in my family. (I don’t have MODY-2 but probably MODY-3 or -1 since my insulin sensitive diabetes responds dramatically to tiny doses of Sulf.) Since we know that heart disease starts ramping up with exposure to blood sugars over 155 mg/dl, its quite understandable that MODY-2 would lead to heart disease untreated.
But I urge people with that diagnosis NOT to accept the argument “There’s nothing you can do about it” because there is. Find a doctor who will work with you to lower your post-meal sugars and do keep those carbs down. It will help!
My observations, which are anecdotal but might be worth considering suggest that children exposed to higher than normal blood sugars in mid-100s develop very strong intellects. All the bright people in our family seem to have the gene. So perhaps that’s the trade off.
And if you commit to tight control you can live a very long life. My dad made it to age 100 with my gene (and heart disease) through controlling his diet extremely tightly.
@Jenny, as you know I follow a low carb diet and tightly control my blood sugar and am not going to abandon it. But if I have MODY-2 I don’t need to try every new T2 medication that comes down the pipeline in the hopes that it will help. And I don’t have to put up with the constant comments from so called health care professionals that if I just lost weight my diabetes would be “cured.” I don’t expect to just forget about my condition but if treatments which cost me money and expose me to adverse side effects and are in fact useless do not help me. I should have a proper diagnosis to protect me from inappropriate treatment.
And in the end, the most important thing that drives this is that I owe it to my children and relatives. All the stuff I have had to put up with, I owe it to all of them to seek the truth and help them avoid not only harm but all the difficulties I have experienced.
Brian, The sad thing is that people who don’t have MODY are just as unlikely to be cured if they lost weight! When I’ve run polls maybe 5% of people with Type 2 who lost significant amounts of weight report any change in their blood sugar control. The stupidity of the people paid a lot of money to supposedly look after us is ferociously depressing.
The inappropriate treatment is just as inappropriate for most people with Type 2, also.
But I do understand where you are coming from. The concern, though, is that if doctors think you have a form of diabetes that requires no treatment, they may well use that as an excuse to take away the support you’ve been getting. After all, why have the insurer pay for those expensive test strips if you have a form of diabetes that requires no treatment?
I do hear from people who get their prescriptions taken away, hence my concern.
I think we are very much on the same page. I continue to argue that the Diabetes Prevention Program which teaches people that they get diabetes because they they are overweight and that you can prevent diabetes by simply eating a low fat calorie restricted diet is probably more harmful than helpful. And there is a risk that a diagnosis could lead to less access to treatment in the future. But as a T2 I am already denied access to treatments, I can be restricted in strips and denied a pump or CGM simply because of the diagnosis of T2. This is apparently why my endo now codes me as an ideopathic T1.
At least right now treatment guidelines and insurance are seemingly blind to MODY. Right now in the currently used ICD-9 there isn’t a coding for MODY and as far as I can tell ICD-10 doesn’t even have one either. Given that the ICD-10 was completed in 1992 and still isn’t used I probably have a few decades before I worry about being coded in a way that messes up my life.
Yeah I lost 150 lbs 20 years ago and it didn’t cure my diabetes. I recently got aproved for my pump, and the application was sent through quickly. I had a heart attack through the process and had to put it on hold for 7 days while I recouperated from that. Those fatal heart attacks also run in the family. My Dad was 42 when he had his (he survived but had great heart damage) my grandfather dropped dead at the age of 50, and so did my uncle. I thought I had escaped the curse because I never smoked and am a woman. I’m the first woman to have a heart attack, and I’m 62 and the doctor said I probbly bought me 20 years by not smoking and I do exercise. Anyway, pump is sitting here waiting for my pump training schedule in a few weeks.
Folk wisdom, anecdote, and individual experience have their place, but I’m sometimes shocked at how dismissive many diabetics are of their doctors and the scientific literature on our condition(s) more broadly. Do people think this sort of ineptness and corruption is limited to endocrinologists, or are you guys similarly jaded about other experts/professionals in other domains?
I’m definitely guilty of this at times too, and I have a sort of fantasy version of the kind of endocrinologist I’d be had I taken a taken a different path earlier in life. But I also recognize that in the real world the kinds of generalizations/rules of thumb many of us loathe might actually be the best one can do in the face of various constraints. A little more empathy for our doctors–including in having to deal with us–might go a long way. But I recognize that’s both preachy and not likely to fall on receptive ears.