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This week.. what is monogenetic diabetes and why should we – on a mainly type 1 diabetes podcast – care about it? The majority of people with monogenic are misdiagnosed as type 1. People like Kristin Skiados who thought she’d lived with type 1 for 38 years and her daughter Ava, was also misdiagnosed.

MODY Quiz – Probability Calculator 

We’ll talk about how this could happen, what it means for the rest of us and what monogentic or MODY is all about.

Check out Stacey’s new book: The World’s Worst Diabetes Mom!

In Tell Me Something Good, how a little sister’s diagnosis changed a sibling’s outlook and career..

And what the heck is a diabetes merit badge? We’ve got em! (Find out more here)

This podcast is not intended as medical advice. If you have those kinds of questions, please contact your health care provider.

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Episode transcript (rough transcript, please forgive grammar, spelling, punctuation) 

Stacey Simms  0:00

Diabetes Connections is brought to you by One Drop created for people with diabetes by people who have diabetes by Real Good Foods, real food you feel good about eating, and by Dexcom take control of your diabetes and live life to the fullest with Dexcom.

 

Announcer  0:21

This is diabetes connections with Stacey Simms.

 

Stacey Simms  0:27

This week, what is monogenetic diabetes? And why should we on a mainly type 1 diabetes podcast care about it? Because the majority of people with monogenetics are misdiagnosed. people like Kristin Skiados who thought she was living with type one for 38 years.

 

Kristin Skiados  0:44

It really was a phone call that was the answer to a new life. And it was probably the first time that I was speechless on the phone and the fact that That this meant there was a possibility to not be on insulin was just amazing

 

Stacey Simms  1:06

Kristin’s daughter was also misdiagnosed. We’ll talk about how this could happen, what it means for the rest of us and what might have genetic or MODY is all about in Tell me something good. How a little sister’s diagnosis changed a sibling’s outlook and career plans. And what the heck is a diabetes merit badge? I got them.

This podcast is not intended as medical advice. If you have those kinds of questions, please contact your health care provider.

 

Welcome to another week of the show. I am so glad to have you along here on Diabetes Connections. We aim to educate and inspire about type 1 diabetes by sharing stories of connection. I’m your host Stacey Simms. My son was diagnosed 13 years ago right before he turned two I don’t have diabetes. I do have a background in broadcasting and that is how you get the podcast. Hello to any new people joining us from the Raleigh Durham, North Carolina area. As this podcast is airing, I am just back from the JDRF type one nation summit in that area and thrilled to meet many new people and see some familiar faces. Not too long a trip for me. Of course, I’m in the Charlotte, North Carolina area, but always fun to go to those conferences, see people in person, talk about the show, talk about the book, the world’s worst diabetes mom, and make those connections that I care so much about.

And this is the second time that I have taken the diabetes merit badges on the road. I am so excited about this idea. This came to be I guess it’s one of those ideas that came kind of suddenly but then was also years in the making. I have always thought that we deserve like a gold sticker or a huzzah! Or hurray when something goes right in diabetes land. You know,There used to be a joke in the community that when your meter read 100 that confetti should come out of You know, stuff like that. But when I was writing the world’s worst diabetes mom I even mentioned in one of the chapters when I talk about the first injection I gave Benny at home that I really felt like I had done something monumental and I wanted to you know, shout it to the world. And that’s how the nighttime ninja sticker was born. So they are kind of silly. Yes, there is one that is a nighttime ninja. These are actual stickers. When I say merit badge, I mean, these are stickers that you can buy things like date night diva, which means you had a conversation without checking your CGM data 1000 times hold music marathoner finally spoke to a supply company representative dia-diplomat, calmly explained that sugar doesn’t cause diabetes, insurance hoop jumper, and on and on. A lot is are geared to diabetes parents, which is obviously my perspective, but I teamed up with Rachel at diabetees who’s a previous guest to the show and very popular in the community for her amazing shirts at her great Etsy store. So I’m going to link up in the episode homepage and on social media, more about these stickers, you can buy them in batches. I also have a sticker that’s not in the Etsy store yet. And it is wanted for not waiting. It’s the DIY cowboy sticker. Because that is for my friends at night scout and all of you who are not waiting, we’re gonna do something fun with that, maybe a fundraiser for them. We’re still working out the details.

As I said, this came on kind of quickly. I decided in December that this might be a really fun idea. And I called Rachel and she was like, Yes, I’m in and I gave her a bunch of the ideas. And she came up with a couple of them herself. And then she’s a genius when it comes to the pictures and the drawings and it really came together beautifully. So right now, there will be a link in the episode homepage. Diabetes Etsy store is the only place you can buy the stickers right now. And I have them on my book tour and Rachel as she goes out and about the conferences, she will have them as well. I’m really excited about them. They’re very funny and silly and just a little bit of a pick me up. And if you have ideas for these as you see them and you can see all of them and her Etsy store, let us know we will definitely add as we go if they’re popular and people really want them. Love to hear what you have to say

A quick note, this interview is longer than usual. But it is a very complex, frankly, and a very interesting subject and I didn’t want to stop talking about it. So I’m doing something a little different. For this episode, we’re going to do about half the interview. Then we’ll go into our Tell me something good segment. And then I’m going to pick the interview back up. You can always listen to episodes on your own schedule, of course, but I just felt this was a really nice way to lay this episode out with an interview. That by itself is more than 45 minutes. Regardless, the whole thing will be transcribed on the episode homepage. I am thrilled people are loving the transcripts. So if you are one of them, please reach out and let me know. I’m so excited to finally be able to offer this I know a lot of people wanted it Thinking about trying to go back and do more episodes in the past, we shall see.

All right diabetes Connections is brought to you by Real Good Foods –  high protein, low carb, real ingredients. easy to find in a store near you, you can just go to the website, click on that store locator. Type in your zip code in our area. I can find them at Publix, Harris Teeter and at Walmart. And if you’d like to order, their website is fantastic. Lots of great options. I mean, all of the options are on the website. Great breakfast sandwiches, grain free, high in protein, low in carbs, because they use ingredients like cauliflower instead of processed flours or processed starches so you don’t get those weird sounding ingredients or weird preservatives. And you can find the list of ingredients right online very easy for the all of the ingredients are on the website, find out more, go to diabetes, connections dot com and click on the real good foods logo.

My guests this week are here to talk about monogenetic, diabetes The type of diabetes caused by a genetic mutation. There are about 10 different types of diabetes that are genetic like this. And we are talking about a specific one today. These are all very rare. Together, they account for about one to 2% of all types of diabetes, but they are very often misdiagnosed, and usually misdiagnosed as type one. If you have monogenetic diabetes, you almost always don’t need insulin, you take oral medication, so it is a big deal. Now I have to admit, I struggled a little bit with this interview. I remember vividly researching, when Benny when my son was diagnosed, I was so hoping that it would be monogenetic, MODY or something else. And I struggle now, because there’s not an easy test for this. You can’t just call your doctor and get a quick result. As you will hear it is more complicated. So as you will hear me ask, what are we supposed to do with this information right?

My guests are Kristin Skiados who lived with type one for 38 years before genetic testing showed she didn’t actually have it. And we’ll hear briefly from her daughter, Ava, also misdiagnosed for years. And Dr. Tony Pollin, a Board Certified genetic counselor, a human geneticist, and she works with the mano genetic diabetes research and advocacy project that is aiming to get universal access to diagnosis and individualized treatment. So here is my interview all about monogenetic diabetes. Dr. Pollin and Kristin, thank you for talking to me. I am fascinated with this and I’m so excited to learn more. Thanks for spending some time with me.

 

Dr. Toni Pollin  8:43

Thank you for having us.

 

Stacey Simms  8:46

Let me start with with you Dr. Pollin, let me just ask you, what are we talking about here? You know, I know people we know there are different types of diabetes. But what is mono genetic

 

Dr. Toni Pollin  9:00

So if you just kind of, you know, break down, monogenic, you have mono, which is one, and then genic, which is gene, what it means is that there’s one gene that’s really important in certain cases of diabetes. And we actually know that almost all diabetes is highly genetic. It has a lot of hereditary influence, you know, so their genes, their variations in our DNA that we inherit for from our parents that act in concert with other factors to determine whether or not we get diabetes and whether or not we get type 1 diabetes, or type two diabetes, which even itself is a lot of different diseases. But for some cases of diabetes, the genetics is actually a lot simpler. There’s some very specific change, like a misspelling and a gene that causes a person to have diabetes makes them very, very likely to have diabetes really explains most of it. So when we say monogenic, we mean that the cause of the diabetes can largely be explained by a change or difference or mutation in one single gene and that person,

 

Stacey Simms  10:07

and how is it treated?

 

Dr. Toni Pollin  10:08

how its treated is it depends on the type. So it’s going to sound a little bit contradictory because I just said monogenic. But there’s actually several different forms because depending on the individual, they might have their several different possible genes that can be involved. But when an individual has monogenic diabetes, it’s one gene. Again, that’s explaining most of their diabetes. And so depending on the type of diabetes, the treatment will vary, so some types of monogenic diabetes, the diagnosis doesn’t make that much of a difference, but the one that’s ones that were most interested in and actually the most common types, that does make a difference. So there’s one type of monogenic or one kind of group of types of monogenic diabetes called maturity onset diabetes of the young, and that sounds like a strange name, but that was an observation made in the 70s 60s 70s even earlier, when it was realized that some children had diabetes that looked more like the type that older people got. They didn’t need to be treated with insulin and they actually some of them responded really well to oral medications. And so getting back to your question, which is how is it treated? Some people with certain kinds of monogenic diabetes called sometimes these types are called Modi, three and moody one, and they’re caused by genes and changes in genes.. And those are treated with low doses, a very old class of drugs called sulfonylureas, and these are drugs that help the pancreatic beta cells to make and release insulin,

 

Stacey Simms  11:44

those medications is that like Metformin or these oral medications?

 

Dr. Toni Pollin  11:48

There are medications but what’s interesting is back when these types of diabetes were first discovered, when it was discovered that you know you had these children who didn’t quite fit either way, they were kids They were part of the way they why and maybe part of why they call it maturity onset diabetes of the youngest because they responded to the medication that was used in adult diabetes, Metformin did not exist. Back in the 60s, there was only one kind of oral medication, there’s only really one medication besides insulin that could treat diabetes. And that was a class of drugs called sulfonylureas. So that’s things like glyburide, and other drugs like that. And what those drugs do is they help the body to make insulin. They help to stimulate the body’s capacity to make insulin and to secrete the insulin and really they said stimulate the body’s capacity to secrete the insulin. And so the drug Metformin is is among many drugs. And sulfonylureas still use, but Metformin is actually safer. And so and it’s, it’s often the first drug that’s tried and type two diabetes. The problem is if you think somebody has type two diabetes, and they really have one of these modes, These are these transcription factor types of diabetes, then they won’t respond because their problem is in secreting insulin. Metformin helps you to respond to insulin. Metformin is what’s known as an insulin sensitizer. So,

 

Stacey Simms  13:12

but I took you down that road because I mentioned Metformin.

 

Dr. Toni Pollin  13:15

So that’s fine, though, because that’s important. And that’s actually ironically, one of the reasons why a misdiagnosis is even more of a problem today than it was a long time ago, because it used to be that people were treated with the type of drugs that actually work with monogenic diabetes. Yeah, so yeah, so but that’s just one of the treatments. Now, there’s another whole kind of class of monogenic diabetes that doesn’t actually require any treatment. And so this is due to a partial deficiency of an enzyme called glucokinase. That kind of tells the pancreatic beta cells that there’s glucose around and catalyzes a chemical reaction to people who have that form. They actually have a lifelong Mild hyperglycemia that if it doesn’t have any other causes, then it’s it’s largely benign. And it actually doesn’t respond very well to treatment. So knowing that you have that form, which is called glucokinase diabetes means that you could discontinue treatment.

 

Stacey Simms  14:16

All right, Kristin, let me bring you on because you lived with what you thought was Type 1 diabetes for a very long time. Can you tell us your story?

 

Kristin Skiados  14:26

Yes, I was diagnosed at the age of five, back in 1980. And I had all the classic symptoms of type 1 diabetes. As a matter of fact, when my parents didn’t know what was going on with me, one of my friends moms was a nurse. And she said, geez, yeah, I think she might have diabetes, and I ended up in the hospital and the very high glucose. they diagnosed me immediately with type one, and I was put on Matter of fact, I was put on purified pork insulin, and then move to bovine and, and I stayed on insulin for a better part. Love for 38 years. I didn’t move on to a pump when I turned 25. And life was just normal for me. I don’t ever remember not being diabetic. And I think that was a good thing. I was so young when I was diagnosed, and I don’t know what life is like, not having it. And I know it was an adjustment for my family for my siblings, because, you know, my mom made them do all the same things I did minus the blood sugars and the insulin. But they had to eat it and they had to have snacks and they had to get up early to and it just became a norm in our house. Yeah, I went to college, I did all these great things, traveled, played sports, got married my husband and had two kids.

 

Stacey Simms  15:57

Alright, so fast forward then. So Your daughter Ava, who is now 11. She was diagnosed with type one as an infant. And I imagine that that was, you know, devastating not only because you you’ve already been through it yourself, but she was so young she was 15 months.

 

Right back to Kristin in just a moment, but first diabetes Connections is brought to you by one drop, one drop his diabetes management for the 21st century. One drop was designed by people with diabetes for people with diabetes. One drops glucose meter looks nothing like a medical device. It’s sleek, compact, and seamlessly integrates with the award winning one drop mobile app, sync all your other health apps to one drop to keep track of the big picture and easily see health trends. And with a one drop subscription you get unlimited test strips and lancets delivered right to your door. Every one drop plan also includes access to your own certified diabetes coach have questions but don’t feel like waiting for your doctor visit, your personal coach is always there to help, go to diabetes, connections calm and click on the one drop logo. Now back to Kristin, talking about her daughter’s diagnosis.

 

Kristin Skiados  17:17

You can have a little bit of the same classic symptoms that I had. A few things were different. And when I kind of looked back on it in hindsight, there were signals kind of all along, I think, you know, she had thrush in her mouth as an infant a few times. She always had yeast infections, diaper rashes. When I look back on it, we’re like, oh, maybe this was the manifestation of this but when she was 15 months old, she was still 17 pounds. She was eating a ton of food. I mean, she was the top of the zucchini, whole sweet potato, half a chicken bread. You know drink milk yogurt. Then two hours later, we’re drinking more milk or having more yogur getting up in the middle of night. He wasn’t excessively peeing all the time. You shouldn’t have frequent urination. But she was just underweight. You know, she was the amount of food she was eating didn’t match what her weight should be. So I kind of had it in the back of my mind. Well, maybe she has diabetes. She had bronchitis before she turned a year old that we went and we got the blood work done. And her fasting glucose was not actually overly high. It was in I think, the 200 but she was diagnosed as type one. And we had compounded insulin, they had a you know, dilute her insulin because of her at her knees and, and it was devastating in the fact that this was something I never wanted her to have, you know, so there was this mother’s guilt of my gosh, you know, she got this from me. And that was Very difficult to deal with and, you know, not so much myself having diabetes, but now my daughter was going to have to do the same things I have to do. And her life wasn’t going to be normal. And we had to say goodbye to that normalcy was almost like a death. You know, it was the life that we knew was now gone. And we had to readjust and, you know, her insulin had to be on ice. I had to be cold all the time. So we were always walking around with our refrigerated bags, we have tons of ice packs,

 

Stacey Simms  19:33

is it because it was diluted it had to be cold,

 

Kristin Skiados  19:35

okay, and in where we live, we don’t have compound pharmacy, so it had to be shipped from Baltimore. Well, and it’s the same thing my parents went through this this everything’s turned upside down and falling in her blood sugar’s every night 7pm constantly changing insulin to carb ratios and, you know, she was on shots and half unit so you know, trying to draw half Unit insulin doses and it was overwhelming. And this is coming from me who’s lived with diabetes. It kind of knows more than the average person, you know, but even still, it was a huge adjustment. It was really, really hard. It was a hard pill to swallow life. Now with two diabetics in the house. A lot of care went into Ava, you know, I kind of put myself on the back burner for a little bit trying to manage her and manage me and it was a challenge and being that younger son couldn’t communicate with me,

 

Stacey Simms  20:33

right? That’s so difficult. So when in this journey then because here we are talking to you on a podcast about mono genetic diabetes. When did you find out what she really had

 

Kristin Skiados  20:46

said we were at one of her just regular checkup appointments at University Maryland and Medical Center, and Ava’s nurse. She had presented us with this study. Asked if we wanted to participate. And I spoke on behalf of Ava and said yes. And being a biologist myself. I thought monogenic diabetes. And when Ava was diagnosed, I kept saying, How does she get type one like there is that genetic component to it, but for type one day, I think to be passed on Dr. Paul, and you can certainly correct me if I’m misspoken here, there’s a lower percentage of inheritance rate for type one computer, obviously, money. So I can see, you know, all the research at the time when she was diagnosed with stem cells, stem cells, stem cell, I wanted genetics, genetics, genetics, and nobody was doing genetics. And so when this opportunity came about, I was like, Yeah, I want to find out more about this. I’d never heard of monogenic diabetes. And I started reading up on it and I thought, This is what I’ve been looking for. This is what I wanted now. So we entered Ava into the study, and got our blood work done and just waited for our results.

 

Stacey Simms  22:06

And how old was she at the time?

 

Kristin Skiados  22:08

She just turned nine.

 

Stacey Simms  22:09

Oh, so this has been going on for a very long time. This is her whole childhood. And Toni, let me ask you, I understand, how do you live with what you think is type one and it’s really something else. I mean, is it dangerous to be on an insulin pump? Is it dangerous to be treated like a type one when you when you actually have something else?

 

Dr. Toni Pollin  22:31

Well, in some cases, it’s not necessarily acutely dangerous, you know, because the problem in all diabetes is the problem with blood sugar. And in certain types of monogenic diabetes, it’s because you’re not producing enough insulin. You can treat it with insulin and that’ll be okay. But there’s a couple of reasons why it would be preferable not to do that. And one would be of course, as I think Kristin and Ava will be able to tell you about Better than I can that most people seem to prefer taking a pill to wearing a pump or doing injections. But the other thing is that when you think about, you know, just think about anything that you have wrong with you. It’s almost like you know, you can put a bandaid you can kind of treat it superficially, or you can treat it in a more in a kind of deeper way you can treat the underlying problem sometimes not everybody, but for some people, they might be fine on insulin as Ava and Kristin were, but you might be able to be even better if you’re treating the underlying problem.

 

Stacey Simms  23:31

Alright, so let’s go back Kristin. Ava’s nine, you get the results. Were you both in the study or did Ava get the results in that? They said, Hey, Mom, we better check you too.

 

Kristin Skiados  23:41

Well, you know, when the study was first presented, I said, Hey, can I get in and they said only if Ava’s positive and  she presents a mutation. So she had her blood work done in May and we got the official diagnosis on December 5, and I get it. Like I always get choked up talking about that phone call because it really was a phone call that was the answers to a new life. And it was probably the first time that I was speechless on the phone with that with Dr. Three, and he had called me with the results. And the fact that this meant there was a possibility to not be on insulin was just amazing. When we were going through this study, we never really presented much to Ava, because we didn’t want to give false hope. You know, we didn’t want to build something up that might that may or may not be when we were going through this. You know, we just said what we’re going to see if your diabetes can be treated differently. When we got the news that she had kcp diabetes, often known as MODY 13 this is one of the forms Where you can take sulfonylureas instead of insulin. But that’s it, you know, it’s a 90% success rate of 10% failure rate. So that was something that we didn’t want to, once again get our hopes up with her. So we were very cautious with how we proceeded through this whole thing. You know, the news of her having this mutation was amazing. It was probably one of the greatest days of my life. And then that meant Hey, I get in the study to I was I was really happy about that as well. Ava came off of insulin within two weeks of taking the globe, your eyes is still on your reality. But it wasn’t an easy process. It wasn’t like just start taking a pill and come off insulin. You have to wean yourself off of it. She she had a difficult time she was low. Miss the time like in the 30s. It would take hours to come up I’ve had to like leave work and pick her up in school and Then you know, at night she’d be, you know, 400 and, and it was kind of like being in that first diagnosis stage all over again with CGM going off and we got her regulated and she’s great. Her A1C was just recently like 6.2 I’m sorry. 6.9 she corrected me. I’m sorry. 5.9 Her A1C was 5.9. Yeah. She responded immediately to it like a one See, Why’s she was down. Within two weeks of coming off of insulin. Her agency was down into the under seven,

 

Stacey Simms  26:38

right and this 5.9 is now what two years later?

 

Kristin Skiados  26:41

Yeah.

 

Stacey Simms  26:43

And what happened was you did what did you get that phone call? What was that? Like?

 

Kristin Skiados  26:48

I got a call from Dr. Street in February I think was right around Valentine’s Day. And you know, she called and told me that I had the same mutation and It was, you know, once again that see it was like hitting the lottery. It was just something I couldn’t believe I was hearing, you know, and of course, you know, the emotions come into play with it. And I thought when she was diagnosed with diabetes, I felt incredibly guilty that I had passed this disease on to her. And now when I look at it, I am so happy that if I pass anything on to her disease wise, thank goodness it was this because if she could still be on insulin, I could still be on insulin. And we’re off and it’s, it took me about a month to come off of insulin. I had a couple things working against me in this process. First off was my age. I was in my 40s to I think that oldest documented patient in literature was about 36. Oh, so there’s a quite a bit of an age difference there. And plus I had died. I was on insulin for 38 years. Compared to another documented case, I think where it was significantly less, you know, so that 90% success 10% failure was pretty heavy for me because I wasn’t necessarily responding to the medication as quickly as Ava did. I was kind of not having any lows. And I think Finally, like when I had my first low, I think I was in my classroom teaching, and my students were like, you know, what’s wrong? I said, My blood sugar’s low. And they’re like, Oh, yeah, what do we do? I go, nothing. This is great I with them, because my students had kind of followed me and Ava kind of through this process. And I was like, No, this is I need this to be low. And then it took me about a month I came off of insulin essentially, it was April 28, is when I came off of insulin and I just had my A1C done, and I’m 6.5 Right now, and I take my glyburide twice a day Ava takes it three times. I know that my endocrinologist at Hopkins was shocked that I had a form of monogenic, and he’s pretty keen on picking up things like that. But he said with my particular mutation, to KCNJ11. Geez, it mimics type one. And it’s harder to identify a KCNJ 11 compared to that of a of a type one because they do mimic each other.

 

Stacey Simms  29:34

Let me stop you just for a second. Toni. I have so many questions. I think you know, my first reaction as a mom of a kid with type one, it goes back to this first days where we’re all thinking, couldn’t this be something else? Isn’t there another possibility? And I remember find it I found MODY and I found other types of diabetes and I asked my endocrinologist and he said, Stacey, I really wish That he could just take a pill, but this is type 1 diabetes. So am I now supposed to go back or all the parents and individuals with type one listening to the podcast? What are we supposed to do? Should we go back and demand these tests?

 

Dr. Toni Pollin  30:15

So this is the really hard thing. So a couple things. One of the things that I do worry about and kind of want to temper is that, you know, of course, most people with a diagnosis of Type 1 diabetes actually have type 1 diabetes. And the the study that Ava and then Kristin were in the purpose of that study was really to find a realistic way to make sure not that necessarily every person with diabetes gets tested, but that every person with diabetes gets considered as a possible candidate based on certain red flags that clue you in so there is more overlap, I think that people realize and how people with different types of diabetes present and the resist study done. I sort of always knew this anecdotally, I come at this from kind of a unique perspective. I trained as a genetic counselor, and then went to Winton, and became did research and did a PhD studying the genetics of type two diabetes. And I realized that we had a lot of things we were promising about what would happen when we understood the genetics of type two diabetes and realizing that actually, with some of these monogenic forms, if we could just find the patients, we could already make a difference in their lives. And so I began to realize that it just often wasn’t considered, or it was considered so rare, as long as not to exist.

And then in 2012, there was actually a study published that was a study called the search study where they were trying to find all the diabetes, what caused diabetes and in a whole bunch of children at different centers in the country, and they found that you know, at least 80% of the time or more monogenic diabetes or specifically MODY is misdiagnosed, as either type 1 diabetes or type two diabetes, it can be mistaken. There are clues that you can look for. So how did Ava and Kristin end up in our study, when you know their own doctor didn’t suspect them? So one of my team members I happen to have on my team, a mate, I’m not sure she may be the only physician who’s double board certified in both endocrinology and medical genetics. And as one of our strategies, we had several strategies for identifying patients and trying to find ways of identifying patients and medical systems. One was using questionnaires to have simple questions for the red flags I’m about to tell you and also getting referrals. But also she just started she started to actually look up in the charts of patients who were coming for treatment for their next appointment to look for these red flags. So the one of the red flags we were looking for was children who are diagnosed before the age of 12 months, because we actually know that if they’re if you’re diagnosed before the age of six months, which is very, very Rare, the overwhelming majority of those cases are monogenic and not type one. It gets more and more likely to be type one as they get older, but the sort of gray zone, one of the things we were looking for was any children diagnosed before 12 months. Well, Dr. Street and saw Ava was coming in, she was diagnosed at 15 months, it was kind of Gee, isn’t that you know, that’s, that’s pretty young. That’s kind of borderline, you know, you sort of the line kind of creeps up, because you want to make sure you don’t miss anybody. Then when we realize too, that, as Kristin pointed out that her mother also had type 1 diabetes, even though it’s diagnosed with a little over age, that raised the suspicion. So that’s actually one of the things they look for is when you see type one being transmitted from generation to generation, it happens and there’s definitely an increased risk of children. But if it’s monogenic, then the risk is more like 50%.

So those are one of the things what’s really important is that if it’s type 1 diabetes, usually not always, but usually there are antibodies that indicate the autoimmune process. That says that the beta cells are going away, they’re being destroyed by the immune system. But you have, especially the right antibody tests, and you don’t have those antibodies, that’s a red flag, it could still be type 1 diabetes, but when you get anybody’s tested and you don’t have them, then it raises the chance. The other thing is that the longer the C peptide persists, that also raises the suspicion because you know, C peptide, is a measure of whether the pancreas is actually producing insulin which you can measure even if a person is taking insulin injections, because it’s it’s the kind of byproduct of insulin that’s produced by the body. Those are the kinds of things they look for sometimes somebody is we also look for people this has a really good likelihood of picking people up people who are diagnosed with diabetes, but it’s not type 1 diabetes, like it’s somehow it’s known not to be type 1 diabetes, says Lena we might see some diagnosed with Type Two Diabetes at 25. Especially especially person is not overweight, not obese. So there’s just see these sort of a typical situations that raise the suspicion. So you know, there’s these characteristics. And we turned out that was our best characteristic for picking people up diagnosed with non type two diabetes and then we can non type one, then we confirmed it by looking at the antibodies and C peptide, then got hits is just, if you think about a physician who sees thousands of patients with diabetes, they’re going to start to kind of notice like this one really looks a typical. So people start, you know, just noticing something a typical and sometimes it didn’t always fit with the exact characteristics that we were looking for. But it almost fit and it sounded like it could be it sounded like you know, basically this is, you know, a child who maybe doesn’t really need insulin.

I mean, there are cases published there’s an actual case report published of adolescent rebellion leads to diagnosis of monogenic diabetes because a teenager decided to stop using his insulin and was fine. And so they suspected. So I think earlier when you asked about, you know, what’s the consequence of being on insulin when you don’t need to be, I thought you might also ask, you know, why is this? Why are so many people you know, not correctly diagnosed. And that’s it that there’s some people not knowing about it. But then even if people know about it, then there’s a lot of overlap. But there are these things you can do. There’s a way you can put out links, but we’ve started to develop resources to help those patients and providers to start to think about it. And there’s a website at the University of Exeter, where they have a calculator, where you just put in really basic information like hva watse. And whether you have a parent with diabetes, and it actually gives you based on their own database, the percent chance that someone you know, might have a mutation in one of these genes. But you know, as you can hear, no matter what you do, it’s just not always straightforward. And that’s what we’d like it to be.

 

Stacey Simms  37:00

I just and this may sound very ignorant, so pardon me, I can’t wrap my brain around the fact that we’re all supposed to be so careful with insulin, right? And people are terrified to, you know, to give too much. And yet you got 4% of people with diabetes who don’t need insulin necessarily, who are taking it every day and not having these terrible adverse effects. I guess my question is, I’m almost more confused. I might. So not everybody is supposed to get into the testing, but you could be taking 40 units of insulin a day, and have monogenic diabetes, not need the insulin and not know it.

 

Dr. Toni Pollin  37:38

Right. So when I say not everybody should get genetic testing. I should probably rephrase that if there were a way and I believe there will be in the future for everybody to have genetic testing, then it would make sense got it, people if you know, I’ll probably a lot of your listeners are, you know, podcast listeners are probably listening to some of these genomics podcasts. And you know, we’re we’re now at the point where more and more people have their whole genome sequenced in many of our kind of visions of, you know, what is genomic medicine look like, people often talk about, oh, I want to, I want to have genetic testing to see what I’m at risk for, I want to have my genome sequenced to see what I might risk for. But what I see is in the future, when everybody has access to their genomic data, then it could just become a very routine thing, where, you know, you get diagnosed with diabetes, and they run a bunch of tests, because forgetting about MODY, there’s still tests to run to figure out what kind of diabetes you have, if you’re, you know, if you’re kind of on the border, if you’re 29 years old, you’re a candidate for type two, your candidate for type one, especially if you’re, you know, if you’re overweight, you know, some of these other risk factors. So in my dream, everybody has very ready access to their genomic data. And so so if somebody is diagnosed with diabetes, then you’ll be able to run an algorithm that will pull up whether there are variants in any of these genes. It’s just that we’re not there yet, and it’s still, there’s still costs associated with doing genetic testing. So what we are needing to do right now kind of till we wait till the genome era is that we really need to pay attention. I think a lot of what we need to do is, is we need to, I think stories are the key. So that’s why I was so excited to come on here with Kristin and Ava. Because I think that every story is different. And I got interested in this, for the reasons I said that I realized that there was a way that genetics could be used to help. And I A lot of what I knew was just from reading journal articles, but as I got started, you know, got funding for research and started doing the research and started talking to patients, I kept learning more and more nuances. And so I think one of the keys is just finding out I think there’s a whole lot to this that we don’t know because we don’t know the full extent of the patient lived experience, but when we do that will help us to help other people.

 

Kristin Skiados  39:51

I would have never known I was a monogenic diabetic, had it not been for Ava because my people Parents don’t have diabetes, there is zero history of diabetes in my family. So if it weren’t for Ava, having diabetes, I would still be on an insulin pump and I would still be taking insulin and probably spend the rest of my life on insulin. So I’m very grateful, of course to my daughter for having diabetes is a weird thing for a parent to say. But when you when you look at, you know, the scope of kind of what’s happened in our life and what and how we went from, functionally a pancreas that’s because that’s what our life had changed to, we kind of stopped being human, and we started being in Oregon. And there’s not too many chronic diseases out there where you actually have to do the job of the organ that isn’t working. And that’s and that’s what diabetes is and you become your band, forget, you know, but manipulating the pump and the shots and everything. To go from being a pancreas now to being a person, again, it’s a pretty amazing thing. But once again, my position that I was type one the whole time. So if it weren’t for Ava, being in the study, this would not be in my life today, being insulin free and on medication. hopefully at some point, people will have access to their genome to identify things like this so that you know, another person doesn’t spend 38 years of their life taking insulin when they don’t need to.

 

Unknown Speaker  41:40

You’re listening to diabetes connections with Stacey Simms.

 

Stacey Simms  41:45

Much more to come. We will continue with our talk. The second half of the interview is coming up, including my chat with Ava, Kristin’s daughter, and I want to let you know that if you’re thinking what are my chances, what are my child’s chances of actually having managed genetic diabetes, there’s a short quiz you can take to see if it is worth talking to your doctor about this. And I am going to link that up on the episode homepage. It’s just a couple of questions. I took it and really doesn’t seem like it is worth it to talk to our doctor, but you can take it for yourself and find out more diabetes Connections is also brought to you by Dexcom. And you know, we started with Dexcom back in the olden days before share. So trust me when I say using the share and follow ups makes a big difference. And I’ll tell you how long ago we started. We were cleaning out some things and Benny came running into my room and he’s like, remember this and it was the share cradle. That’s what for you new people. That’s the only way we could share for a little while was plugging the Dexcom receiver into the share cradle. But you know, it makes such a big difference when you can see those numbers right. And you have to set parameters, at least we do about what I’m going to call him how long to wait. You know not to overreact to everything. It really helps us talk and work about diabetes less if you had a sleep over or away on a trip, it gives me so much peace of mind. And I really like that I can troubleshoot with him, because we can see what’s been happening over the last 24 hours. And not just at one moment. Internet connectivity is required to access the separate Dexcom follow app. To learn more, go to diabetes, connections calm and click on the Dexcom logo.

 

Time for Tell me something good. And I got a great message via Facebook from Christina and she writes, “I have a good news story for you. My older daughter Natasha, who is 24 has been a great help to her younger sister rose, six rows was diagnosed three years ago. And Natasha has been there for everything. The hospital stay the classes and everything in between. She is busy with her own life, but always had time for us and her little sister because of her sister who has type one And her brother who has Crohn’s, she is getting her master’s degree to become a dietitian.” Christina, thank you so much for sharing that. Thank you for the great picture that we will share on social media. You know, we know that any chronic condition is tough on the family, and it’s tough on the siblings who don’t have it, right, because everybody’s life is affected. It is hard stuff to go through and make the siblings feel included. They get so much empathy and understanding, but there’s can be a lot of resentment and normal bad feelings, too. I think it’s important to acknowledge that. So I really appreciate you sharing this and all the best to Natasha, she goes forward in her studies Keep us posted.

And Christina also added and I’ll put the city but that’s very self promotional. But Christina added that “I want to tell you how much I appreciate you and your podcast. So many times. I feel like I’m living in my own world with this crazy diabetes. I listen, and I instantly feel better. Thanks. Keep up the great work.” Well, Christina, you just made my day. Thank you so much. For that, you know, I gotta tell you, it’s so selfish to do this podcast because I do it and I instantly feel better. It’s really just a nice way for me to be connected to the community. It’s really it’s not a one way street here. So thank you for that very, very nice note.

All right, let’s get back to our talk on moto genetic diabetes. This is the second half the interview, and we’re going to pick up here with a few words from Ava, who was initially diagnosed as a baby. But a study found that at the age of nine, she didn’t have type one at all. And I want to let you know here, she talks about her insulin pump and her elementary school experience. And while everyone is different, you’ll understand in a moment why I’m saying this, but this did not match our experience at all. And I think it’s really important especially if you are newer to an insulin pump or considering one for you or your child, that if your child is being excluded, or cannot do certain activities with an insulin pump, or is being told they cannot. The staff at that school needs better education and It’s a great idea to talk to your educator or your endocrinologist or even your pump Rep. To say, my child can’t do this with this pump. How do we work around it? Because as you know, if you listen, having a pumps and stage two with tubes, pumps, and he never stopped my kid from doing anything. All right, so let’s pick it back up. And here I am. I am talking to Ava, when your parents told you that you actually didn’t have type one. But you had something else. Do you remember what you thought about that?

 

Ava Skiados  46:29

I thought that it was worse, because my mom just told me that I didn’t have type one, but I thought that it was a lot worse.

 

Stacey Simms  46:38

And then they explained that it was good, just going to be different. And did you feel better about it pretty quickly.

 

Ava Skiados  46:44

I yeah. It took like an hour before they told me that I just fell off of insulin.

 

Stacey Simms  46:51

Do you remember? So it’s been about two years. I’m curious if you remember what it was like to take insulin and where an insulin pump

 

Ava Skiados  47:00

actually change my site every three days. And when I had to wear the pump, I had a cord. And it got stuck on things. And I couldn’t do much physical activity or I could, but like I couldn’t do certain things in gym, because it was off the little hack that connected to my catheter, or my pump was all about and a disconnect that way. So I couldn’t do many things that other kids got to do. So just kind of like left out and sitting on the lawn, Jim.

 

Stacey Simms  47:36

Oh, well, that stinks. Tell me what you do. Now, you don’t wear an insulin pump. You take a pill a couple of times a day.

 

Ava Skiados  47:43

I take the post three times a day. And every except for the fact that I can do more things that I couldn’t do. I can go without I can just do Without leaving, as my mom can get a card calculated is this and I need to put it into my

 

Stacey Simms  48:09

your mom talk about what it was like before cuz you know she thought you had type one also?

 

Ava Skiados  48:16

Yeah, I don’t talk about it. No one really brings it up. But if someone brings it up and asked me like how it was before I came off as one. I don’t really like to talk about it but I can stuck with how I was before. Grab your eyes.

 

Stacey Simms  48:34

Do you mind me asking why you don’t like to talk about it? It’s okay if you don’t even want to answer that.

 

Ava Skiados  48:39

Because I couldn’t do a lot of stuff in school. When I was in like third or fourth grade, that’s when I finally come off. But when I was in kindergarten through about third or fourth grade, I couldn’t really do the last one. I couldn’t do many, like I it was hard to do a play that I was it. They had a microphone and my side too, but it always got to hold on to the microphones. We had to readjust it regularly.

 

Stacey Simms  49:17

Have you sat down and talk to each other about how extraordinary this all is? Because it’s hard I think when you’re the people in it to see.

 

Kristin Skiados  49:26

Well, you know, when we were presented with the study option, you know, they thought like, Oh, we have to go we have to get blood drive. She was like, No, I don’t want to do that they go you know, but you have to understand not only can this help us but you know, it can help other people and really, when we started getting involved with Dr. Poland through med rapid going to the French for life conference that you know, I totally event that, you know, what we’re doing is helping other people. We’re giving other people People the potential opportunity to experience life without insulin. And that’s the beauty of medical research. And I’ve done a lot of different and participated a lot of different research studies, where, you know, we kind of get to see the outcome of that. And I and there’s an intrinsic value to doing things like this and to talking about it tends not to talk about as much as I do. But yeah, like we’ve, you know, we’ve talked about, you know, why we’re doing this, and you know, why we’re doing the podcast and why we went to Florida. And that was one of the most fantastic diabetes conferences I’ve ever been to, and why we’re sharing our stories because there’s other people out there like us, and you know, she’s 11 and, and she’s in her little 11 year old world, and I’m not sure she really kind of sees, you know, the outcomes of what we’re doing. I don’t think she’s going to really realize that until she’s a little bit older. See, wow, you know, there’s people in my high school that have monogenic it, you know, when she I think she begins to meet other people that have a form of monogenic?

You know, when I was type one was diagnosed with type one, I was the only person in my town. And I was one of only like nine kids in northeastern Pennsylvania with Type 1 diabetes. So talk about being kind of your own being in a community. Everyone knew I was diabetic at the age that I’m at now and I’m a teacher. Every year I have the diabetic kids, they put them in my class, I think the conventional other diabetics, put them with sciatica, pain, you know, and even got a couple kids in her class that are type one, you know, and so you kind of feel that you’re not alone, that you’re not just this person with this one illness that, you know, doctors, you know, can treat but it’s hard to manage. And I think that as we’re moving forward with the research that Dr. Poland is done, that There’s going to be a shift where Ava is not going to be the only monogenic, diabetic patient or kid in her school, or in our county, you know, or in Southern Maryland as a whole. Hopefully we’ll see. There’s more kids out there that had been re diagnosed with a form of monogenic. So we talked about it in terms of the value of it, but I think for an 11 year old, it’s a little bit harder to grasp the big picture. When you’re still the only kid in your school that monogenic, she’s not the only diabetic, but she’s the only monogenic kid. You know, when she started Middle School, we had to have a meeting with the administrative team and the nursing supervisor because they didn’t know any of this stuff.

 

Stacey Simms  52:49

Well, wait, let me jump in. Because I know we’re getting really long on this interview guys, but I may have misunderstood so she takes a pill three times a day, but does she have to do anything else? Are you still checking blood sugar and worried about highs and lows

 

Kristin Skiados  53:00

So you we are we have any we still do worry about her highs and lows. So I mean, if she’s high, it will come back down when she’s low. Yeah, we still have to treat it, you know, 15 grams of carbs. We still have that protocol. She wears a CGM most of the time. So she really just kind of checks in with her nurse and she has to take her glide right at lunchtime. So she visits the nurse there. But you know, when you’re dealing with something that’s not the norm, people get a little bit nervous with it.

 

Stacey Simms  53:31

All right, before I let you go and Toni, let me ask you to weigh in on this one more time. I just keep coming back to what do we do? I know that in the future, hopefully we can get more testing. But is it a question now of Okay, my son was dead. Let’s use me. My son was diagnosed at 23 months. He looks like classic type 1 diabetes. No one in our family had diabetes before him. I don’t recall. You know, not needing Insulin at any way, shape or form. In fact, he’s had that classic journey of teeny tiny doses. I remember growing up those quarter units in a syringe, we couldn’t see it at all when he was 23 months, and then the basal rates doubling and then doubling again as he hit puberty. So I think we’re probably not a good candidate to be tested for this. Right? It certainly

 

Dr. Toni Pollin  54:21

sounds like classic type one, I should do my kind of disclaimer now that I’m not a physician. But, you know, I think part of the problem is that we still don’t know what we don’t know, which is why what we were telling people you know, when we’ve now we’ve been to Kristin and Ava and I were mentioned at Florida Kristin and I went to the friends for life conference recently, more recently in Falls Church and just the importance of getting those antibodies and the C peptide, because you know, to be No, I think it’s becoming more routine to get them. But just because it’s possible to even the C peptide, it’s possible to not show When you see peptide in the blood because this particular type, so the type that Kristin and Ava are have is actually different than the main types they talked about, where you know, the insulin gets made, but there’s this channel that doesn’t function properly, and so the insulin can’t get out. So I say, look for the typical cases. But if you have any doubts, if you’re curious, at least make sure you’ve kind of had these these kind of baseline measures that make it clear that this really is type 1 diabetes, because we don’t know every possible scenario that this can present as I also did want to say, because I wanted to kind of correct something a little bit you were asking earlier, you know, is there harm to being on insulin when you don’t need it? I can tell you that this KTP diabetes is potassium channel diabetes. It’s most common in you know, really little infants, like we’re talking like zero to six months. And I’ve heard some of those parents, for example, there’s a little girl in Chicago, who’s actually in a movie called journey to a miracle if you know Educational Resource and her I’ve seen her parents speak and talk about how she would have hypoglycemic seizures because it was very difficult to control her in her glucose with insulin, especially when she couldn’t verbalize what was going on inside what really struck me I went to actually the the premiere of the of the movie they made when they showed it in Chicago. And actually, I think this movie is available on Amazon. So if people want to see it, it tells some of the story but what really struck me was these parents many of these parents saw this as a cure, which kind of surprised me because I thought oh, we don’t have a cure but it’s better but it to them it felt like going from a kid with a with really difficult to control Type 1 diabetes to you know, manageable, mild type two diabetes like the other thing I should this is kind of really bringing up a whole nother subject but some of the kids who have these mutations it actually affects it has it has neurological function and actually affects some of their brain function and some of that can improve with the treatment as well. So that’s just kind of extra, but kind of getting, you know, back to your question of what do we do? This is what’s keeping me keeps me up at night sometimes, but it’s keeping me in research. This is this is what my research is really trying to do. How do we address all these barriers? I mean, we’ve talked about some of the barriers, genetic testing can still be expensive. We need to communicate to insurance companies what the genetic testing does and how it’s useful. We need to communicate to providers worldwide, when we do the genetic testing, we need to improve the dinette testing. So there are better at telling the difference between which variations in the gene actually cause diabetes. And so one of the other issues that I have is I have a worldwide panel of experts in monogenic diabetes that can pull together not only their knowledge, but they can pull together their cases. So to give an example, the mutation that Ava has, was only reported one time in the literature and because it was recorded in the literature. We were able to say that it was an important mutation in this disease, otherwise we wouldn’t have been able to. And so the solution really is communication. That’s why we’re here on this podcast. And people telling their stories, working together, being open and finding more people so that other people can help come up with other creative, creative ways. So

 

Stacey Simms  58:22

well, Toni, and Kristin and Ava, thank you all so much for sharing this story for giving us all of this information and for continuing the research. I mean, it’s incredible to think about how many people might be walking around with a misdiagnosis. So thanks for coming on. I appreciate your time so much and you know, keep us posted. How about that? Isn’t it difficult to think about being misdiagnosed and not having type 1 diabetes? I mean, as Kristin said, it really is a dream. It would be so nice to be able to tell my son Oh, sorry. You don’t need to take insulin anymore. There were times during this interview where I kind of felt myself getting I got jealous. I got a little angry. I got resentful. I was very happy for them. I’m happy for any family that that, you know, turns the situation around. Although it doesn’t sound like monogenic diabetes is a walk in the park either. I mean, let’s be honest, but I had to let myself feel those feelings as we were talking. And if you felt them too, you’re definitely not alone. Okay, next stuff on the world verse diabetes mom book tour. I’m heading to South Portland, Maine this weekend. Oh, it is gonna be so much colder. I’m so nervous being the southern transplant that I am. It’s gonna be great. I’m talking to a group called the main pea pods, parents and providers of diabetic children. And I am thrilled to be going up there so excited to talk to this group and meet everybody. We’re gonna have a great weekend. If you’d like me to come speak to you definitely reach out there’s a page at diabetes connections. com called Community It’s got our schedule where we’re going, where we’ve been and what you need to do to request an appearance from me. I can come out and do the podcast, I can come out and do what I’m doing this weekend, which is the world’s worst diabetes mom presentation, which is all about why you all should be more worst. Making mistakes is a really, really great idea. We have a lot of fun. Thank you, as always to my editor john q. kennis. From audio editing solutions. Thank you so much for listening. Our mini episode is going to come along and just a couple of days. Those are airing every Thursday. So I hope you can join us for that. I’m Stacey Simms, and I’ll see you back here on Thursday.

 

Unknown Speaker  1:00:43

Diabetes Connections is a production of Stacey Simms media. All rights reserved. All wrongs avenged

 

Transcribed by https://otter.ai

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