Dear Lizzy,
Always happy to connect and exchange notes with a fellow MODY 3 patient! Thank you for posting. I would love to hear about your own journey with MODY3 and what you have observed, and if anything here seems relevant to you.
I'm writing from Canada. I've recently been confirmed through a genetic screening to be an HNF1A mutant
(at age 40). My father has been treated as a type II up until I began to do research into diabetes in our family and concluded that my father was likely MODY. His recent genetic test confirmed it. My research and support in my family has resulted in changes in medications for my cousin as well, as well as diagnostic tests for other family members at risk of having inherited the mutation.
I haven't found a lot discussion groups or resources that would be specific to HNF1A diabetics.
However, through regular monitoring over the past year or so I've observed some things that are relevant to me and may or may not apply to others HNF1A mutants. So please take anything written here with a huge grain of salt. I'm not a medical specialist. I've also done a fair bit of observation and monitoring over the past year or so.
Once I learned of our family history I had an OGGT that was high-normal fasting, but 12mmol at 2hrs. My HbA1C was 6.2 or prediabetic. I've always been active, vegetarian for most of my life, and have had a very lean body type.
Our condition is such that we are born with everything working normally, and then as we age our pancreas/beta cells produce less and less insulin (estimated to be 1 or a few percentage points a year). Thus, regardless of lifestyle, our condition worsens.
Unlike other forms of diabetes, we are particularly responsive to a class of medication: Sulfonylureas. Many of us HNF1A mutants, if we need to be medicated, can be medicated with a drug of this kind for decades. There are also cases of previously mis-diagnosed Type I diabetics switching off of insulin and onto Sulfonylureas once a MODY3 diagnosis has been confirmed. So for you, if you are not yet on any medication, you can expect to fair very well on oral medication when the time comes to be medicated (most likely for decades if things remain well managed).
Activity and diet (as you have experienced) can have a dramatic effect on our glycemic control and thus avoids long periods of hyperglycemia that can speed up pancreatic/beta cell decline. Seems to me that lifestlye factors for HNF1A mutants in particular is under-emphasized through my experience with endocrinologists. And if there is specific advice for MODY3 patients, I haven't heard any from diabetic specialists (doctors, diabetic nurses/dieticians etc.) that I've spoken to.
I suspect that it is especially relevant to HNF1A mutants to consider the insulinogenic properties of food (that is how much insulin the food elicits). I could be wrong about this, but that is my suspicion. My experience is that it is important to eat enough carbs in order to elicit insulin production. Thus, I don't follow a no-carb diet. Of course too many carbs will lead me to be too high...so it's a challenge.
Other observations:
I've noticed that if I go too long without eating, my sugar will slowly rise. I think this is due to producing glycogen ('in house' sugar produced by the liver) which does not elicit an insulin response (relatively speaking) for me. Similarly, after competitive exercise (e.g. playing football/soccer for an hour), my sugar levels will often be higher. I believe this is also due to 'in house' sugar (glycogen) not eliciting an insulin response.
However, food elicits insulin for me, albeit an impaired response at this stage of my condition.
Eating the right foods appears to elicit a better insulin response. At my particular stage of this disease, I am now 'medicating' myself through activity and diet. I've noticed that in particular animal meat and some other foods tend to help me to avoid any peeks after meals (which is the main concern at this stage of my MODY3 progression). Indeed, since it is the post-prandial peeks that are my main concern, I suspect that HbA1C is proxy but not a gold standard of indicating unhealthy levels of blood sugar in our case. I believe this since my fasting blood sugar is always within normal (albeit high normal), thus my previous 'pre-diabetic' HbA1C must have been caused by diabetic levels after meals. Thus the HbA1C measure--since it is an average of glucose in the blood over a 2-3month period--in effect hides the degree of blood sugar
variability that HNF1A mutants can experience after meals. It is not clear to me in what ways, or how much I should be concerned, about the variability (i.e. I may peek around 10mmols a couple of times a month, but have an HbA1C of 5, does this matter much? I don't know. At what point should I be medicated? If I was less vigilant, surely I would already be medicated... Still lots of questions to be answered for me).
I've also observed that very brief and high intensity exercise when my sugar levels are higher than I would like, can effectively bring my sugar levels back down to normal after 3-5 min of exercise (e.g. pushups, running on the spot). Depending this will bring my sugar levels down by 1-3mmols right away. Thus, when I have a reading that is on the high side, I can bring it down (usually, but not always depending upon the amount of sleep I've had or if I have a cold) quite quickly.
I have not yet needed any meds and my more recent HbA1C was 5.0. So I'm no longer 'pre-diabetic' although what is important for us are avoiding our peeks after meals. These occur often 1hr after eating in my experience.
Longer sessions of exercise that are not too high intensity (e.g jogging for 45 min) will help keep my blood sugar levels lower for the next 24-36 hours.
Based in Chicago is one of the centres for research into monogenetic forms of diabetes like ours. If you wish you can volunteer to join one of their research projects. The link to their monogenetic registry is here:
http://monogenicdiabetes.uchicago.edu/our-research/registration/mody-registry/
and here
https://cri-app02.bsd.uchicago.edu/monogenics/Registration_2013.aspx?u=1
I suspect, because our diabetes can be traced to a specific genetic mutation, that we ought to be the subject of research into diabetes in general, as we represent a more 'controlled' version of diabetes in the sense of it being caused by fewer factors that are more easily isolated than for the average Type I or Type II diabetic.
Again, I'm a lay person and have not medical expertise. Please take anything I share here with an enormous grain of salt.
I would love to hear of any observations that you've made as we learn our way into the best possible lifestyle for our form of diabetes. I feel that we are on the cusp of learning more about how HNF1A diabetics may be treated specifically and more effectively. We are very lucky to have the disease at this point in our medical knowledge compared to even 10 years ago.
Wishing you all the best,
Warmly,
Rodney
ps I've attached a couple of key research articles on our form of diabetes in case they are of interest.
Is there anyone else out there who has been diagnosed with the genetically inherited form of Diabetes known as MODY 3 (Mature onset Diabetes of the Young) or otherwise known as HNF1a?
As it is quite rare there seems to be limited advice available as to best management of the condition.
I am currently managing on diet alone using the HFLC diet and want to remain that way.
How are others coping and what can I expect over time?
