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My Journey to Understanding MODY Diabetes

Episode Overview

In this insightful episode, I share my personal and unique journey of health discovery as I uncover my diagnosis with a rare form of diabetes known as MODY (Maturity Onset Diabetes of the Young). Despite its rarity, this story underscores the importance of individualized care and self-advocacy in navigating the healthcare system.

Key Takeaways

  • Personal Health Journey: I detail my experience from pregnancy complications to discovering my rare diabetes diagnosis.
  • Healthcare System Challenges: Discussing the limitations of standardized healthcare protocols and the importance of personalized care.
  • Persistence in Self-Advocacy: Encouraging listeners to persist in seeking answers and appropriate care when faced with health concerns.
  • Understanding MODY Diabetes: Providing an overview of MODY diabetes, its genetic basis, and the challenges in diagnosis and treatment.

Episode Highlights

  1. Early Signs and Pregnancy Complications
    • Three pregnancies with significant complications due to large babies.
    • Initial misinterpretations of symptoms and health indicators.
  2. The Journey to Diagnosis
    • Multiple tests and misdiagnoses including PCOS and iron status checks.
    • Persistent high hemoglobin A1C levels despite a healthy lifestyle.
    • Exploration of insulin resistance and the discovery of low fasting insulin levels.
  3. Discovering MODY Diabetes
    • Genetic testing leading to the diagnosis of MODY 12, a very rare form of diabetes.
    • Challenges in finding appropriate treatment due to the rarity of the condition.
    • The struggle with healthcare providers reluctant to prescribe the suggested medication (glipizide).
  4. Navigating the Healthcare System
    • The importance of advocating for myself in the healthcare system.
    • The need for personalized care and the limitations of generic treatment protocols.
    • Encouragement to seek second opinions and not settle for inadequate care.

Reflective Insights

  • Healthcare Privilege: Acknowledging the advantages I had in navigating the healthcare system due to my background and resources.
  • Encouragement for Listeners: Inspiring listeners to remain steadfast in their health journey and to advocate for themselves, recognizing their own knowledge and experience with their bodies.

 

Ready to dive in? Listen here.

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SUBTITLES:

Hey everyone. Welcome back to the Empower Nutrition Podcast. This episode I’ve been thinking about making and I’ve just been kind of worried that might be kind of boring. I try to make my episodes really applicable to people so that they can use the information and apply it to their everyday life. But this topic might not directly apply because as I’m sure you already saw, we’re gonna talk about a rare DI disease that I’ve been diagnosed with. So you probably don’t have this rare DI disease, so it won’t directly apply in that way. But the reason why I decided to make this episode is that most of the clients that I work with, well everyone really is unique in their own way. And when we go to get our healthcare, unfortunately, we’re often kind of in this system that wants to apply protocols to us, which there are, there are advantages to that.
But there’s, there’s, there’s of course also downsides in the sense that generic protocols and, and, and algorithms don’t acknowledge our unique individuality. And so I think what I’m really hoping that you take from this episode is just an encouragement to pursue your, your own best health. Even if it takes, as I know you all have been going through it and I see it every day in my, in my patients, it takes so much effort on your part to keep pushing for, to advocate for yourself and to not accept care that under serves you. Because healthcare providers are in a difficult situation. They only have a limited amount of time. They only have a limited amount of resources. And so they’re usually just trying to get through their day. They wanna help people, but they also have to get through their day and get home to their families.
And so if, if they’re able to kind of get through your appointment, get onto the next person, they’re, they’re usually gonna take that opportunity even if that doesn’t result in you getting full answers on your health. So hopefully that makes sense of what I’m getting out of like I’ll tell you the story and what I’m hoping you take from it is that you should never stop pursuing answers when you think there’s something going on with your health that’s not being addressed. So hopefully that makes sense. So I’ll tell you a little bit about this story and again, hopefully it’s not just really boring ’cause it’s very unequals one practically. But I’ll just go into it and if you don’t like it, skip to the next episode. For me, this story really starts when I was 27. I got pregnant with my first baby and carried that
Baby all my babies, went to like 41, 42 weeks, went into labor and had like a pretty traumatic birth. It was like tried for like 12 hours to deliver vaginally and ended up having a C-section, which is very common and like should not have been traumatic for me, but it, it really was experienced by me as traumatic. Like it was, I had to agree that I was not expecting it. I was not thinking I would get a C-section. I did not want a c-section. It was just very upsetting to me. So, but what we’ve learned from that was, oh, okay, well, well we didn’t really learn anything but what was weird is that like the baby had been stuck and not turned in the birth canal not turned and the, and therefore got stuck in large part because he was over 10 pounds. So that was very strange, but it’s kind of like, okay, well I was a big baby and my husband is a large person and he was, you know, 42 weeks.
So it’s probably just that. So I didn’t think too much of that. Fast forward two and a half years baby number two, again, doesn’t turn, gets stuck this time thankfully like was a vbac but like they were prepping the, or it was almost on a vbac, almost had another c-section but thankfully had a VBAC with that baby with the help of like, basically this is gonna be so weird if you don’t know about this, but they can like put a, like a suction cup on your baby’s head, kinda like a vacuum and like turn their head a little bit to help them out. So definitely required intervention and guess what, that baby was 10 pounds, which was weird.
And also that was why that baby was stuck. Fast forward almost four years later, baby number three, you’re gonna get bored at this point. Didn’t turn got stuck. We were living in England and having to be delivering in a British hospital at that time. So they have different rules about what the standard of care is with OB and they really, thanks to socialized healthcare in my opinion, are like the opposite of America. And America. We’re incentivized. They’re incentivized to give you a c-section that’s more profitable and safer for the healthcare for the hospital really. But in England they, the government’s paying for all the care. So definitely they prefer a vaginal birth ’cause it’s less expensive. So they’re, they do things in England that are not, that wouldn’t be done in America. And specifically in this case it was like broken collarbone forceps, like really violent vaginal birth.
But what was wild is that like the, that he was, that third baby that I had was he was 10 and a half pounds and I’m a short person. I’m like five feet, two inches tall. So no wonder these babies keep getting stuck and because they have nowhere to, no way to turn, like babies are, have to kind of like do a turn to fit kind of like a key through a lock when they’re born and they just weren’t turning for me. So because of their size. So, so that was like really weird. And at that point the OB I think rightfully so just told me like, considering your history you should stop having babies. I’m like, I agree. I feel like it’s a miracle that my babies are all safe and healthy at this point and so I’m done. So, so that was like strange, right?
So then for the first time in my life after I had that baby, my primary care ordered a hemoglobin A1C on me and it came back high like 5.8%, which is pre-diabetic range. I had with all three babies take in the oral glucose tolerance test and passed it with flying colors. Like I crushed it. I was like great on those every time. But they were so suspicious of gestational diabetes because of these large babies that I was having that in my third pregnancy. They had me do the test twice. I did an early one and then I did the regular one and both times drank the sugar drink, took the blood test, perfect. Look, my blood sugar is great. However, after the third baby I got my first A1C in my life, which is more of a three month like running average of your blood sugar and it was pre-diabetic.
So that’s kind of weird considering the fact they had these large babies. ’cause if you don’t know this, large babies are associated with diabetes and high blood sugar. So, so that was weird but the provider just said, oh you know, you’re postpartum. I wouldn’t overthink it and like just kind of like why don’t you just ignore this and not stress over it? So I’m like, okay fine and you know, I’ve got a newborn and fine, I don’t have time to think about this. Anyway. So then fast forward two years later we’ve moved at this point to California and I’m working for a corporation in California at a clinic and they had for their health plan routine annual health screenings where they just do like a basic finger stick like labs on you. So, so like I went ahead and got the health screening and then was surprised to see my hemoglobin A1C once again come back really high. I think it was 5.9%, which is definitely pre-diabetic. So, and at this point I’m working at this functional medicine clinic, I’m eating a super, I always have like get in a really good quality diet exercise every day,
Sleep, self-care, like not, you know, healthy weight, all the things like there’s no, like I’m not meeting the normal like reasons why someone would start to be pre-diabetic. So then had an appointment with a provider around this high A1C and got this whole workup. So first we looked at iron status because sometimes when hemoglobin A1C is high, it actually has nothing to do with high blood sugar. It it’s, it’s a three month average of your blood sugar assuming that you have normal cell turnover because as these red blood cells float around in your blood in this soup that has blood glucose in it, it’s glycosylated meaning it’s, it’s attaching to the, the blood glucose or the blood sugar is attaching to these red, red blood cells that a given rate over time. And so at, at like when they measure it, it’s assuming that these cells have been around in the blood for the normal amount of time.
And so the, the reference ranges are kind of standardized for that. But if you have low iron status, your body has to be more careful about how frequently it destroys old cells and makes new ones. It doesn’t really have the resources to have the same rate of turnover. So it’ll hold on to old cells for longer and make new ones more slowly. And so your hemoglobin A1C will go high because you are having these cells sit around longer getting sugar added to them for more time. But your blood sugar can actually be normal. Just that the cells are aging too much basically they’re not dying fast enough. So we did the whole iron study and it was normal so that wasn’t the problem. It wasn’t having this like slow cell turnover problem.
Another common feature like situation where you could have high blood sugar but not otherwise when you’re in the context of like okay healthy weight, healthy diet, healthy exercise would be PCOS. So we did a full PCOS workup, totally negative, do not have PCS did a course, a fasted blood glucose, my fasted blood glucoses, I’ve always had a lot of them, they’re always less than 100 so they’re normal looked at. However, in that draw we also looked at fasted insulin, which I always recommend for everybody if you can get a fasted insulin it’s extremely helpful as an aside. But in my case, so like typically when you have like insulin resistance brewing you a lot of like a high fa a fasted glucose, well that goes over a hundred is a very like lagging indicator of insulin resistance. By the time you go over a hundred, you’re well along your way towards diabetes practically, but high insulin will happen sooner.
You can have certainly high insulin with a normal blood glucose. So that’s your sign that you’re headed down metabolic dysregulation. So really get to see, so if I was headed towards type two diabetes, if I was insulin resistant the way you would normally expect with a high A1C, you’d expect to see a high insulin, well my insulin came back low, like not just kind of low like flagged low like looks like a type one diabetic kind of low. Which is if you don’t know a type of diabetes where you’re not insulin resistant, your panc, your pancreas is damaged by autoimmune antibodies and doesn’t the, because of the damage it can’t produce enough insulin.
Now if I were type one that’s life threatening and my blood sugar would’ve been very high. So it, it’s not that I have type one but it is that my facet insulin came back practically zero. And with that there’s something called eptide that is goes along with your insulin and that was low as well. So that led us to then go down the road of looking at, sure we looked at type one but of course I’m negative ’cause again it would be like life-threatening, more traumatic clinical presentation if I was type one. But we did look at something called lada which stands for late autoimmune diabetes of adulthood antibodies. So you can basically kind of get this like slow roll more gradual and like, I hate to say gentle but like less severe diabetes as an adult but is like type one in the sense that it’s autoimmune in the sense that your pancreas is damaged and you make less insulin.
So that was like, okay well that would fit. So I definitely had a season there where I thought I had lata like autoimmune diabetes but we got all the antibodies for that. I even got it twice and they were all negative so I, it was not late as diabetes. So just really a confusing thing of like trying to figure this out. And then so then fast forward covid started and last like most of you, I kind of went a couple years without much healthcare and then we moved to North Carolina. And when I got here to North Carolina in 2021, I got a new primary care and talked about this whole blood sugar thing. She referred me to an endocrinologist, endocrinologist, did a workup on me, started with a hemoglobin A1C, guess what? High pre-diabetic. So we started with A-P-C-O-S workup. I think it’s like the third or fourth one I’ve had in my life. Negative I don’t have PCOS
Did a new iron study, still negative, kind of threw his hands up and said okay well let’s, let’s do some metformin anyway. So I’m like okay fine, let’s do some metformin. That’s weird for me but fine. So I took metformin religiously for six months, went back, got a new hemoglobin, A1C. Now if you are kind of classic diabetes insulin resistant, the metformin is a standard of care, it should certainly lower your A1C and in PCOS it should help as well. Well I came back and my A1C was higher after taking metformin for six months. Not significantly higher. It was pretty close to the same. I think it went from like 5.8% to 5.9% after six months of metformin. So met, so like metformin, what the main thing that it does, it’s fascinating drug ’cause we don’t fully understand it actually, but one of the main things it does is it sensitize your cells further to insulin. So it makes you less insulin resistant at the tissue level. So clearly insulin resistance is not the issue ’cause it, I made myself more insulin sensitive, it did nothing.
So across these like years I wore like continuous glucose monitors. I did like, I bought a glucometer. I did pretty frequent like blood glucose checks on myself just trying to figure out like is my blood sugar high or not? Because the fasted blood sugar is normal. The A1C is high very consistently. So what the heck? So when I did these CGMs, the glucometers, what I learned was that actually if I was, if I, when I wake up, so like basically all night and then when I wake up, so all night my blood sugar sits high, it sits over a hundred. So like when you’re fasted your blood sugar should be less than 100. My blood sugar sits between like a hundred and 110. Like all night when I wake up it spikes up to like, well I’m fasted, it spikes up to like one 30 to one 40 like fasted, which is like really weird.
But then if I continue to fast for a few hours, it’ll usually dip down below 100. And that’s usually around the time I would go in for a blood draw. So I was kind of going in for these draws after I had a night and like an earlier morning of high blood sugar and then I was kind seeing this less than 100 value. And then what was really wild is that the way I would, there was a way of bringing my blood sugar down that I saw very clearly and it was to eat carbs. You’re like, did I hear that right? You did. So when I eat a meal, especially a carbohydrate containing meal, I’ll have a little spike in my blood sugar. So like if you’re insulin resistant, you’ll usually have a spike that goes too high, like maybe between 150 to 200. I’ll never spike over one 50.
I usually spike up to like maybe one 30 or like one 40 if I have like a lot of carbs. So like not a lot of spike. And then it will, after the spike on the back end of the spike, my blood sugar will finally go under a hundred for like an hour or so, maybe two hours and then go back up above a hundred. So really the only thing that would get my blood sugar below a hundred for a few hours would be to eat some carbs, get this little spike and then have this sort of almost overcorrection thing where it’s, it’s almost like, oh the carbs, it’s like a sluggish pancreas. Like the pancreas isn’t putting out enough basal like insulin typically. And then when you eat carbs it finally wakes up the pancreas. So like stimulate it to make insulin and then oh okay, finally you get some insulin.
And I’m very sensitive to insulin. And so when I release it finally after a meal, I’m very responsive and my blood sugar comes down and that matched with the like flagged low insulin when I’m fasted. And I have like virtually none because it’s the sluggish pancreas thing, but not type one, not lata, not autoimmune like at all. So the mystery continued until I finally went back for another visit with the endocrinologist and finally he said, you know, I wonder if you have this thing called Modi, MODY diabetes. And it’s a genetic disease, it’s diabetes that is a genetic mutation where you, you don’t have, you’re not insulin resistant like a type two, but you’re not and you’re not autoimmune like a type one or a lata. It’s almost more simple. You have a genetic problem where like the complicated feedback system that you have in your body that controls your blood sugar has some kind of genetic error in it to where the signaling is not right.
And so you don’t maintain the right like homeostasis of your blood sugar in that way. So it’s not a damaged pancreas and it’s not damaged insulin resistant tissue. It’s a, it’s a genetic error in the communication around your blood sugar that your body has. So he said, okay, well you could get this, there’s a genetic test for it, but like insurance won’t cover it. You have to pay for it. I’m like, yeah, just here’s my credit card at this point. Gimme the stupid test. So I took the genetic test and sure enough it came back that I’m positive for Modi diabetes, which actually is, it’s a collection of things. It’s, there’s over 12 different types of Modi and then the different types are referring to different genes. So like Modi one is a mutation in one gene involved in insulin and blood sugar. Modi two is a, is a mutation of a separate gene involved in this system, et cetera, et cetera.
In general, all of Modi diabetes is only like one to 5% of diabetes cases. So among people with diabetes, only one to 5% of them have Modi. And then the type that I have is on a gene called a the A BCC eight gene, which is Modi 12. And that is only less than 1% of Modi cases. So I have like a disease that’s less than 1% of a disease that’s less than 5% of diabetes, that’s less than a hundred percent of the population. So it’s like this super rare genetic diabetes thing. So think you would hope that this, that then solved the problem. But it’s actually like more confusing than ever from here because then what happened was they said, oh gosh, like this is so rare that like we’re not really sure like what to do, so you should talk to a genetic counselor.
So I meet with a genetic counselor and they said, well we don’t have enough research on this to know what the right thing is and so you should just monitor your health. I’m like, I am monitoring my health and I’m worried about my blood sugar. It’s high and I have a family history on both sides. Both of my grandmas had dementia so I’m, I really don’t wanna have high blood sugar for my whole life ’cause I’m worried about my dementia risk. They didn’t have really any answers for me. So I went back to the endocrinologist. Well I looked in pub med and I looked at all the case studies of these like Modi 12 cases. I looked at all the papers on Modi that discussed Modi 12 and this specific gene that I have. And there’s not a lot, but basically what is there really suggests that the right medication for this is a glipizide medication or a sul sulfonylurea is the class of drug that that refers to.
And it’s a little bit like insulin. It’s not insulin directly, but it stimulates the pancreas to secrete insulin. Which makes sense, right? Because what I have is this genetic error in my signaling around insulin to where my pancreas is just kinda lazy, like not really, but it’s like that where it like doesn’t get into gear until there’s like a real spike in my blood sugar. So from food, so I talked to the endocrinologist about this and he is like, well these medications can like insulin, they can’t, they do come with a risk of hypoglycemia. Like it is possible to take too much, push your blood sugar down too much with too much insulin and like die. So I’m not comfortable giving you this because you exercise, you don’t eat a lot, an excessive amount of carbs and like you’re lean. So like I’m not comfortable giving you this ’cause I don’t want you to like get hypoglycemia basically.
So then I talked to my primary care, she said the same thing, I’m not comfortable giving you the, the schore drug, the glipizide because of high hypoglycemia risk and you’re pre-diabetic, so who cares? This is where it’s kind of frustrating. She’s like, well you’re not actually diabetic, you’re pre-diabetic. I’m like, but area under the curve from my brain of being an extra blood sugar is really high for like my whole life of being like this. So it’s a pro i I I’m concerned. But she’s like, well you know, you’re still only pre-diabetic. So literally offered me metformin again, which is wild. Like we, we’ve gone through this, but basically no answers, no other referrals, no where to go. So next steps, I did find a Facebook group of people for people that have Modi diabetes and looked in there and searched it and talked to people and sure enough, it sounds like people who have Modi 12 often will take these glipizide drugs.
So the answer is probably I have to do some processing on this, this, I’m still kind of processing what to do. So feel free to feel free to tell me your thoughts, but to me it’s to the point where it’s like, okay, I’m going to either find a different provider and get a different opinion and see if there’s somebody that’s willing to like give me a microdosing maybe and see how that goes. And sure, I’ll carry around some apple juice with me or whatever, or I’m looking into peptides. There are some peptides that do stimulate the pancreas to release insulin. So I’m looking into that, considering that as well. So I haven’t decided yet what I’m gonna do because it’s not the case that I can control it with diet, exercise, or like body comp because it’s like no matter what I eat, it’s just, it’s a set point problem.
The set point is too high. And so you can’t, you can’t fast more than fasting and you can’t get more insulin sensitive than very insulin sensitive. And you can’t get more lean than a healthy lane or you shouldn’t. So there’s no diet lifestyle thing in this. It’s, it’s a, it’s a genetic problem. So to me it is a medical need that is gonna require medication because like I said, I’m not comfortable staying pre-diabetic my whole life. I feel like even at my age, I it’s, I I should have not even gone on this long, honestly. So I’m gonna decide what to do. So sorry to not have resolution for you on like the final decision, but what I’m trying to kind of to just to bring it back to like what I started with, it’s taken, I i through this whole thing, I’ve been acutely aware of like my privilege in this, in the sense that like, I work with these providers either like in the California clinic, it was my coworkers doing the workup with me and like here in North Carolina, the, the endocrinologist, we like share patients with each other and like collaborate clinically with each other.
I can speak their language, I understand the labs. I’m in a position where I can have a healthy diet and like exercise and those are all like very advantaged things. And like the fact that I feel comfortable having these discussions with these providers and like advocating for myself, I still had times where I felt very intimidated and like I’m kind of in a, in a weird point right now where I’m like, ah, I don’t know, I don’t wanna like press them to like, give me a different endocrinologist. I don’t wanna be annoying. So even for me, I get some of that sort of like healthcare fear or like feeling inadequate. And so I think for most people that’s like 10 x, right? So, and I’m sure you’ve probably been in a medical appointment where you felt disadvantaged and where the power balance is off, that’s just kind of how healthcare is.
And so I’m just trying to encourage you that like, you know your body better than any healthcare provider. So if, if you feel like something’s off, you’re right, you sh you have the right to get to the bottom of your health to be supported and to get answers about what’s going on with you. And I wish the healthcare system was better at providing that for everyone. Unfortunately it’s a minority of people that really can realize that, right? And so even though I can’t magically fix healthcare, of course, I guess the one thing I could take from this is to encourage you to like, don’t give up, don’t be shy about advocating for yourself. Don’t be afraid to ask for a second opinion. Don’t stop pushing for the right person and the right support because like I said, healthcare providers come into healthcare with good intent, but in the end of the day, they have to get through their clinic, they have to get home to their families, they have to self-care for themselves.
So they, they, they’re, they’re, they’re sometimes really not in a position where they can take a lot of time and dig really deep on things for everybody on their schedule. And, and sometimes honestly they don’t have the skills. They don’t know and understand the root causes. Like a lot of times in health, I mean just in general in conventional care, that’s not the way that doctors are trained in the, in, in upstream thinking and functional medicine. They’re thinking more downstream typically. So I don’t mean to be meandering on it, but I hope this story inspired you to think about your own bioindividuality. And again, just advocate for yourself if you don’t feel like you’re getting full answers on your care. Like keep pushing. There’s so many times in this when the, the team basically just told me like, this is the end of the road. We don’t know what it is, it’s kind of over. And then like the only way, the only thing that kept it going was me like reinitiating it with a new person and like almost starting fresh again and again and again. So I encourage you with that and I hope this helped you and I’m wishing you all the luck in your health as well. Take care.

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