For My Birthday, I Got A New Diagnosis

This is from my blog, here: http://lanabrindley.blogspot.com/2010/11/for-my-birthday-i-got-new-diagnosis.html


I've been a type 2 diabetic for about ten years. Or so I thought.

I've been lucky so far. For the past ten years my diabetes has been well controlled using diet and exercise. No pills, no injections, no six-times-a-day blood testing (just every so often). Even when I was pregnant with T, I only had to have injections once or twice daily, and I have never suffered a hypo (short for hypoglycaemia, or low blood sugars).

Normally, people who get type 2 diabetes fit a certain type: they are over 45, often overweight, and sometimes have other conditions such as heart disease or high blood pressure. I was 21, in a healthy weight range, and had no other medical conditions. What I did have, though, was a pretty scary diabetic family history.

My Mum was diagnosed as a type 1 diabetic at the age of thirteen. I grew up in a house where the distinct smell of insulin preceded every meal, and when Mum didn't look well the first thing you offered her was not a cup of tea, but a jellybean.

About a year ago, my blood pressure skyrocketed, and I started taking medication to bring it back to normal non-heart-popping levels. I hadn't been checking my blood glucose levels much during this time, preferring instead to concentrate on getting my blood pressure back down. And so it was during a routine visit with my GP a few months ago that they checked my blood glucose for the first time in over a year. Blood sugars should normally be within about 5-7 mmol/l (that's 90-126mg/dl for the Americans amongst us). On this occasion they were 20.0 mmol/l. That stupefied my doctor, anyway, "Are you feeling OK?" she asked. I was, so I just closed my eyes and tried to make the number go away.

I started afresh on the diabetes mill-wheel. It was like being diagnosed all over again. You get sent to the diabetes educator to be re-edumacated, the endocrinologist, the podiatrist, the nutritionist, the opthamologist. I began taking oral medication: small doses of Metformin to begin with, then adding Januvia a little while later. My day now consists of 14 tablets in five doses during the day, between blood pressure meds, diabetes meds, and the oral contraceptive pill. Suddenly, I'm becoming quite well-known at the chemist, and the pharmacist now addresses me personally by name whenever I'm in. It's nice to be loved.

It was during an endocrinologist (diabetes specialist) appointment that I had an extremely interesting conversation. My doctor had commented that I had only put on about 5kg since I'd first seen him, and there had been nearly 10 years and a baby in the middle of all that. He congratulated me, I said thanks. I'd worked hard to get and keep the extra weight off, dieting when diabetic is not all it's cracked up to be. Then we started to discuss my mother's diabetes. Mum sees the same endocrinologist as me, and he pointed out how few complications Mum has experienced, despite being diabetic for nearly forty years. And then we got back to my weight, my diagnosis, my lack of risk factors for contracting diabetes at such a young age ... my frightening family history...

It was like a light-bulb went on in his head. He asked if I'd heard of LADA diabetes (sometimes referred to as type 1.5). Thanks to the TuDiabetes community, I had, and had even been told by people in that community that perhaps I had it. I disagreed with them on the forum, and began to disagree with my doctor too. I did not have LADA, and I could back it up with facts. Even the 'type 1.5' name was silly, and had led to much joking around in this house.

My specialist interrupted me. He had studied LADA for his PhD, apparently, and agreed that I did not have it. Well, that was a start. "But I want to test you for it anyway".
"Oh man, why?" I whined.
"To rule it out."
I put my confused face on.

Turns out he thinks I have another "other" form of diabetes, but it's practically impossible (and very expensive) to test for it. By testing for LADA, he's hoping to get one step closer to confirming a diagnosis of Maturity Onset Diabetes of Youth (MODY), a very poorly named and fairly rare variety of genetic diabetes. He thinks my Mum has been MODY all this time too, as it is often mis-diagnosed as type 1. It probably also means T will have it when she gets older. Probably before the age of 25.

So, Lana. You know how all that time you thought you were going great guns and that diabetes was a bit of a doddle? Turns out it ain't, Sunshine. Not for you, not for your Mum, and not for your daughter either.

Happy birthday!

Sorry, Lana, not the birthday gift anyone wants. Fortunately, you have a skilled endo to have recognized your rare type. Nothing like being unusual:( You may know this, but in case you don’t Jenny www.bloodsugar101.com is also MODY. She’s done extensive research.

Thanks for the link Gerri!

I wish that more endos tested for GAD65 and c-peptides at initial diagnosis. It took me nearly 2 years to be properly diagnosed as a Type 1 (LADA 1.5). I got mighty sick during that lag time.

I bet you did. I’ll be going in to have my LADA test done soon, it might be interesting to see the results.

While it seems a sucky birthday present, for me, knowing would be the best gift of all, because that means you can take steps to preserve what little you have left. That is the best gift of all, instead of ending up sicker than before.
I know that is a lame attempt to make you feel better, but there it is.:wink:

Welcome to my life. I now suspect I have MODY, MODY-2 to be precise. There is some evidence that perhaps 2-5% of all diabetics actually have MODY. MODY, which is a genetic condition is something you have from birth, but as you get older your blood sugar control naturally degrades and you can appear to be a t2.



Your doctor wants to test you for LADA/T1 because he needs to rule out that diagnosis before testing for MODY. MODY is a genetic form of diabetes, there are at least 9 forms of MODY, they each have particular genetic variant(s) and symptoms. The form that I think I have is MODY-2, which has the symptoms of a elevated fasting blood sugar and a normal (relatively) glucose tolerance. There is no treatment for MODY-2 except a low carb diet. The other forms of MODY present with impaired glucose tolerance.



The best place to get tested is at Exeter (http://diabetesgenes.org/), Prof. Andrew Hattersley is the worlds expert on MODY and diagnosis of MODY depends critically on a database of identified variants. There are places in the US (AthenaDiagnostics), but they are very expensive. I believe you can get tested for MODY-2 at Exeter for £350.00 (+25%). Much cheaper than the $4000 I’ve see for Athena.



In fact, I’ve been terribly dissappointed in the US resources for MODY. JDRF has stepped out to spearhead US efforts and runs a website (http://monogenicdiabetes.org/) and a Monogenic Diabetes Hotline. I called the hotline, but was told that MODY was just a neonatal condition and that I could not possibly have it and that “NO” they did not have any information on MODY. I think their hotline is really there to raise money. The Kovler Diabetes Center (http://www.kovlerdiabetescenter.org/) is apparently the biggest center for monogenic research, however my attempts to contact them went unanswered. Apparently in the US, MODY is considered (like T1) to be just neonatal and childhood problem. Exeter on the other hand is apparently quite responsive.



MODY is an autosomal dominant, therefore if you have it (and the father doesn’t), your children have a 50% chance of having it. The test for relatives is only £100.00 (+25%) once Exeter has identified any genetic variant and for that price, you could avoid years of misdiagnosis and wasted treatment.



Unfortunately at this time, my requests to have MODY considered as a diagnosis have met with blank stares and comments on my mental problems. I do wish you luck with your diagnosis, your endo sounds like a winner.



You may think this is a bad birthday present. But in fact, finding out exactly what is wrong with you and getting the right treatment can make a world of difference in your life.

Actually, I’m not really as upset as that post made me sound. I agree with you, for what it’s worth, that I’m better placed to look after myself now, and to have a better idea of what’s going on.

Thanks for the words of encouragement.

Thanks for all that info. I’m not sure I’m going to bother with a proper diagnosis. As long as we suspect that MODY (I suspect I have MODY3) is the issue, we can treat accordingly. As I said to another friend today, “the 'betes is the 'betes” no matter what brand you have. As long as you have an understanding of how your individual body is working (and likely to progress over time), then having a label to put on it isn’t going to make a lot of difference.

Good luck with the testing and everything. I understand that even if you get the tests done, they can still be quite inaccurate though.

I agree with you about the lack of resources. I guess MODY is rare enough that people haven’t written much. I’m actually considering writing up a MODY ‘handbook’ of sorts, and publishing it up somewhere. I’ll let you all know how that goes!

There seems to be plenty of evidence that MODY is considered an official diagnosis. I would be kicking out any doctor that doesn’t acknowledge it, I think. And maybe slapping them with a few peer-reviewed articles (which you can find with a quick Google, like I did).

Best of luck!

I was diagnosed as a type 2 two yrs ago. And gestational 20 yrs ago, But because my body reacted very strangely to the standard methods of treatment I was pretty much left to my own devices to figure out what would work for me.
The more research I did, the more I realized that I may have had some type of "D" my whole life. My whole childhood reeks of it, but was never tested. I asked my Dr about it, as well as my nurse and they all said that if I had had it that long without treatment I wouldnt be alive right now.
At first, I thought ya, probably right, the fainting spells, the eating like a horse and never gaining an ounce, thirsty all the time, depression, lack of energy etc, couldn't possibly be "D"
After figuring out how my body works, I am pretty sure I had some form of it, and being sick all the time while I was in the hospital, the IV was glucose water with my meds in it. I always felt better when I was in the hospital, dreaded going home. And yet I survived. without diagnosis or proper treatment.
To this day, I have no idea what type I really am, all I know is, I have a handle on it now, and as weird as my "D" is, I have pretty much figured out how to treat myself.

Sounds like one of the in-between ones to me, Karebear! bsc has started a MODY group that you might want to check out ... http://www.tudiabetes.org/group/monogenic-diabetes-aka-mody

Looking back over this old thread makes me realise that I never mentioned that I ended up writing that MODY book. It's not really aimed at the tudiabetes audience, though, it's more for people who have just been diagnosed and need education about diabetes in general, but specifically MODY.