EPISODE 31: Genetics and Autoimmunity

BECKY: Welcome back to Autoimmune Adventures. I'm Becky, and as always, I'm here with my amazing sisters and co-hosts, Stacy and Alysia. And today we're diving into an intriguing topic, genetics and how it plays a role in autoimmune diseases.

ALYSIA: That's right. Autoimmune diseases are incredibly complex and genetics is just one piece of the puzzle. But understanding this piece can really empower us to better manage our health and recognize potential risks.

STACY: So grab your favorite beverage and settle in as we explore the fascinating world of genetics and autoimmunity. By the end of this episode, we hope that you'll have a clearer picture of how family history and genetics can shape your health journey.

But first, our good bit minute. Exciting news from Penn State researchers that is relevant to today's topic. They've developed a groundbreaking tool called the Genetic Progression Score, or the GPS, which is powered by artificial intelligence. This model predicts the progression of autoimmune diseases, tracking the journey with pre-clinical symptoms all the way to full disease.

By combining the genetic data from the electronic health records, this model provides personalized risk scores, dramatically improving prediction accuracy up to a thousand percent compared to existing models. What's even more exciting, this breakthrough allows for earlier identification of high risk individuals, meaning proactive interventions and better management of these diseases.

The GPS has already outperformed 20 other prediction methods, offering a more precise way to intervene before the disease fully develops. And it's not just limited to autoimmune diseases, it could be adapted to study other underrepresented diseases. Driving advancements in personalized medicine and promoting health equity for all.

I find that absolutely fascinating. All right, let's dive into genetics 101. Let's start with the basics, if you will. Genetics is the study of how certain biological traits like eye color, height, and hair color, as well as conditions like autoimmune diseases, are passed from one generation to the next. At the center of it all are our genes. Tiny pieces of DNA that carry instructions for how our bodies work.

ALYSIA: Exactly. So think of genes as a recipe book for your body. While most recipes turn out fine, sometimes there are errors or mutations in the instructions. And these mutations can sometimes affect how our immune system functions. That is where autoimmune diseases come into play.

So the mutations in certain genes can make it more likely for the immune system to mistakenly attack your healthy cells. causing conditions like lupus or rheumatoid arthritis or type 1 diabetes.

BECKY: But it's not all doom and gloom. Even if you have the genetic predisposition, it doesn't mean that you're destined to develop an autoimmune disease.

We're all kind of chuckling. Our family is a little bit of the exception to that. Obviously, we're all here. Got a lot of fun stuff from our family, but there are a lot of people that might have the genetic predisposition. The perfect example is all three of us have celiac. Our father had celiac, but our brothers don't have it.

Our mom had Hashimoto's. Stacy and Alysia and our younger brother have it, but I don't have it. Fibromyalgia, mom had it, Alicia and I have it, but Stacey and the boys don't have it. So it's a different mix for everybody. And again, it shouldn't be all doom and gloom. We have the genetic predisposition to everything that both of our parents had, but none of us have everything that both of our parents had.

And obviously most of you listening probably have an autoimmune disease, or if you don't, and you're here as a support person for somebody who does, it's good, good ideas and good tips on how to avoid getting autoimmune diseases. if you have the genetic predisposition.

ALYSIA: I don't think we're trying to scare anybody here if you have genetic predisposition, but knowledge is power. We feel that part of advocating for yourself is doing the work to stop disease before it happens.

STACY: So in order for us to kind of give you an idea scientifically about what's going on, we're going to give you some examples of specific gene associations. that lead to different problems or diseases.

With autoimmune disease, one example is HLA, and these genes help regulate the immune system. So when you have a variation in these genes or a change in them, that's when autoimmune conditions like celiac disease and multiple sclerosis can occur. Another example is the PTPN22 gene, and it's what is connected to type 1 diabetes and rheumatoid arthritis. And then lastly, there is the STAT4 gene, which has been linked to lupus.

BECKY: It's important to note, again, that having these genes doesn't guarantee you're going to get an autoimmune disease. Instead, it just means that you're more susceptible. And that's the difference between genetic susceptibility and determinism.

ALYSIA: Right. There are even rare cases where single gene mutations have led to specific immune system disorders. However, most autoimmune diseases result from the combined effects of multiple genes. This is why ongoing research is crucial. Scientists are still figuring out how genes work together and interact with environmental factors. 

STACY: And if we look at the fact that HLA can cause celiac and STAT4 can cause lupus, I have both of those. I haven't gone and had my entire gene situation mapped. So I'm not sure if I have those genes, because here's the thing. Those make you predisposed to something, but they're not necessarily the only reason why you could have a disease. Maybe we don't have HLA genes. Maybe we just have a lot of people with a tendency towards celiac disease, because of being from Scandinavia. There's really no way for us to know that unless we were to go and get genetically mapped. But it's still fascinating because it does explain why certain things happen to people randomly. So you have to understand your family history. That's a very powerful tool. And I know that not everyone has access to that.

I was a foster mom, and I've worked with different people who have been adopted, and one of my best friends is adopted. And so, sometimes you don't have access to that family history. I think that's kind of what makes the fact that we've got things like 23andMe fascinating and useful to people now.

Because now you can go and get, at least in theory, most of your genome mapped out enough, so that even if you don't know your family history, you can get a pretty good feeling for what it is. So if you ever sat down with your relatives to map out who's had what health issues, if you haven't guys, you need to.

Now's the time, especially if you have autoimmune disease, creating a family health history can help reveal patterns of autoimmune diseases throughout your family. And that's really helpful for you and your health care providers. I think that if you consider you're looking at your parents, you're looking at your aunts and uncles paying attention to what went on with your grandparents.

If you start to build a genetic family tree and you get a feel for the problems that various people have had, then when you go into the doctor and you say my Grandmother had lupus. Her sister was BRCA1 positive. Then when you go in with that information, you can share that with the doctor, and that helps them know what to test you for and what to look for.

With that said, we're aware that not everyone has access to that. So by all means, go 23andMe yourself. You'll find out all kinds of interesting things that are very helpful.

ALYSIA: It's important to bring that documentation to your doctor's appointments. When you go, don't forget that family history is not just about your immediate relatives, your parents and your siblings. Like Stacy said, you want to take in all the information you can. Cousins, aunts, uncles, grandparents, whatever you can. Every everybody's health history is a little piece of the puzzle. And this is not just for you. This is for up and coming generations, guys. This is for your own family. And it's advocating for yourself now and advocating for those that are going to be coming after you.

When you're researching, recognize that the past generations often didn't know about some of these diseases, or they might have seen them as something to be ashamed of so that they weren't talked about. I know for a fact that older generations. You just didn't talk about it. You pulled yourself up by the bootstraps. you went about your business.

So we aren't living that way anymore in our society, and I'm so glad we're not. And as Stacy was talking about, 23andMe and all these other genetic testings that you can pay out of pocket for... If your doctor can get your insurance to pay for genetic testing, absolutely do that. If not, you can do your own genetic testing to a degree. And I know there are now companies that will take your 23andMe profile and they can use it to figure out what medications might be more effective for you. They can figure out what foods you might be more susceptible to having intolerances to.

There are so, so many things that can be done with a genetic workup. So don't discount the value of something like that.

BECKY: And also as you're doing this genetic family tree and working on your own genetics, if you're finding that you have multiple relatives with autoimmune conditions, you really might want to consider genetic counseling.

I actually had genetic counseling when I had breast cancer because They knew that my family had a large predisposition to breast cancer, and I was BRCA1 positive. But what was interesting about that is even though it was genetic counseling specifically for my cancer, when my genetic counselor built out my family tree with me, she didn't want just cancers.

She wanted the autoimmune diseases, all the diseases. She wanted the causes of death for everybody that had died up to at least my grandparents. and ... and how young they were when it happened and it's very fascinating. It was funny. I I had Stacy and one of my good friends in there with me when I was having it and my friend turned to me and she kind of laughed and she says you look like you're actually enjoying this because you know I was there for cancer before, they were trying to figure out what kind of chemo would be most effective for me, and she was laughing because you like you actually seem like you're enjoying this.

I was like well it's It's fascinating because it was, I was absolutely fascinated with all the things that they could do with it almost 20 years ago, guys. That was like 16, 17 years ago. And it was still amazing what they could do with it then. Yes. If you're seeing that your family has a predisposition to these kinds of things, definitely consider genetic counseling.

And again, like my sisters mentioned, there are a lot of different companies now that do genetic testings. If you're in that situation where you're adopted or maybe you only have one parent and you don't know anything about the other parent's background, whatever it is, if you wanna have a clearer idea of what your own personal genetics are and your predisposition to these things, get them checked out.

ALYSIA: You know what, I just have to say, this is also a plug for science. Stacey and I went and got tested after Becky was diagnosed and she had her genetic testing done and found she had the breast cancer BRCA gene. Then all of this. testing was offered to her family for the progression of science. I was honored to be a part of that testing.

It gave me peace of mind knowing that I did not have the gene, but I have kept in touch with the Huntsman Cancer Institute for all these years and they reach out and they talk to me still. Every few years they'll reach out. I think it's cool that we are not just advocating for ourselves. We are advocating for science here.

When you do genetic testing, you are advocating for science.

BECKY: Yeah, and future generations.

STACY: And yourself, all at the same time. It's amazing.

BECKY: It's pretty cool.

STACY: You know, as we mentioned earlier, genetics is really only one piece of the puzzle. When we're trying to figure out our autoimmune disease. There's a lot more involved.

There's things like environment, and it is a big factor. While your genes might set the stage, environmental factors can influence whether those genes are activated. This is where epigenetics comes in. Epigenetics is the study of how your lifestyle and environment can affect how your genes work without changing the DNA sequence.

So things like diet, stress, infections, and even exposure to toxins can impact gene expression. By making healthier. lifestyle choices, you might be able to lower your risk of triggering an autoimmune response.

ALYSIA: For instance, chronic stress can alter immune system functioning, potentially triggering a disease in someone with a genetic predisposition.

So there are several different things that can trigger autoimmune disease. And I think that, like we said, when you have predisposition, it doesn't mean that you're going to get the disease. It means you're more likely to get the disease if certain things happen that may or may not trigger it. A few of those things, infections, if you have a terrible diet, that's going to have an impact on your gut health, which is one of the things that is going to have an impact on autoimmunity.

Exposure to toxins, heavy metals, molds. For me, I personally believe that physical and emotional stress are what triggered my autoimmune issues. I was previously extremely healthy and had a lot of energy and I had three kids. Just a lot of things happened. It wasn't a bad time in my life. It was just a lot happening in my life.

And I had a surgery. We moved across the country. I had a pregnancy, new job, lifestyle change, all of these things. I think were like the perfect storm. And that's what it triggered for me. For our dad, he had celiac disease. It was likely dormant in his body for decades, but he had an open heart surgery. And after that surgery, which was extremely taxing and traumatic on his body, then those symptoms manifested itself in full force in his life. There are a lot of things that can trigger and being aware of those things is going to be helpful in trying to avoid getting these autoimmune diseases.

STACY: What triggered me was that I was pregnant. My sister Becky was living with me at the time because she was going through cancer. And in the middle of all of this, I had a miscarriage. And then we found out that there was black mold in part of the house we were living in. I had the concern of trying to make sure my sister was okay and being worried.

Because I had no control over whether she was or not. And then I dealt with my miscarriage. My husband was having asthma problems. And then finally we were able to figure out that, Oh, this black mold is probably part of the problem. But what it did is it put me into a cycle of then discovering I had Hashimoto.

Then finding out I had celiac disease. And then years later, finding out I had lupus, it was a trigger. I remember sitting at the Grand Canyon about seven years before I was diagnosed with lupus, feeling like I had heat stroke while everyone else was gallivanting around having a blast, and I felt like I was dying.

The signs had been there, but things triggered it. So we have to think about how do we avoid making things worse. Some of these are things you can't avoid. You can't avoid that a pregnancy tasks your body. You can't avoid some of these things. They are things that are part and parcel of life, and some of them are things you want to have in your life, but it doesn't change the fact there is stress involved with them.

That is why we have to think about things like practicing mindfulness. Having regular exercise. Anything that helps to influence our immune health and make it better can reduce the chances of us triggering an autoimmune disease. Because here's something that we haven't mentioned, but it should be mentioned.

When an autoimmune disease is triggered by excessive stress, it is worse than it would be if it just came on its own. Does that make sense?

ALYSIA: To me, it makes sense because if it were just going to come on its own because of age or hormones or whatever, it would happen if it comes on from being induced by stress. It doesn't just enter into your life. It enters into your life in a flare and you're gonna know about it. It's miserable when you have one autoimmune disease. You are twice as likely to develop another or more than another. It's really worth your time to do the things that you need to do. If you're listening to this, you probably already got it out of a few disease, it's going to be really hard to avoid getting it, but you can avoid getting another one and you can avoid the one that you currently have or the multiple you currently have being worse, the things that you can do are going to be our Big Six.

We talk about them. We're talking about a positive attitude. Like Stacy mentioned, mindfulness, healthy diet. Minimally processed foods, keeping your gut health in check, avoiding toxins so you can support your kidney and your liver, joyful movement, regular exercise that's going to have a positive impact on your immune health, healthy sleep habits and stress management. Those Big Six are going to make a difference.

BECKY: If you are not familiar with that, you can go back to our earlier podcasts. We do individual episodes on each of those. I know as my sisters were talking, I was thinking very much about the one we did on avoiding toxins. We have so many environmental toxins in our food, in our household chemicals, so many things they've proven time and time again that those can cause autoimmune diseases, whether or not you have a genetic predisposition to them. There are certain things in our lives that we can't control that would impact whether or not we got an autoimmune disease.

STACY: Chronic illness doesn't go away. Autoimmune disease does not, "poof," disappear. We can put it in remission, but it's still there. So we have to think in terms of balancing our lives and healing where we can.

ALYSIA: So one of the key takeaways here is that knowledge is power. Understanding your genetic predisposition doesn't have to be scary. Early detection, regular checkups. and a strong support system can make the world of difference. As we're talking about early detection, I think it's worth mentioning that when you do have a genetic workup, oftentimes they can check for genetic mutations that would cause it to be difficult for your body to break down or to absorb certain vitamins and minerals that are helpful in your immune system and just overall your bodily functions. That is important information to know going forward so that you can properly use supplements to help you feel better. And we'll have a whole episode on that coming up, talking about supplements. And if you are pre-disposed to auto immune conditions, that is super helpful information going forward.

BECKY: It's also worth mentioning that advancements in medicine like biologics and gene therapies are offering new hope for managing and even preventing some autoimmune diseases. So stay informed. Like we said, knowledge is power. Being proactive is key. And with that in mind, if you visit our website, autoimmuneadventures.com, we've included a lot of helpful links, books, websites, some of the genetic sites that we talked about, all kinds of great resources in our show notes, if you visit our webpage.

ALYSIA: So before we wrap up. We would encourage you to start exploring your own family history. It's a small step that can lead to very big insights. Thank you for tuning in to autoimmune adventures. Don't forget to subscribe, share, and leave us a review.

And remember you are worthy of joy. Your disease does not define your life. You do.

Additional Resources for Genetics and Autoimmunity

Websites:

• Autoimmune Registry – Provides information on autoimmune diseases, genetic research, and patient support.

• NIH Genetic and Rare Diseases Information Center (GARD) – Comprehensive resources on genetic influences in autoimmune diseases.

• American Autoimmune Related Diseases Association (AARDA) – Offers educational resources, research updates, and advocacy opportunities.

Scientific Articles and Journals:

• Nature Reviews Genetics – Articles exploring the role of genetics in autoimmune disorders.

• Autoimmunity Reviews – Research on the genetic and environmental interplay in autoimmune conditions.

Support Groups and Networks:

• Genetic Alliance – A resource for genetic information and patient advocacy.

• Online communities like "Autoimmune Genetic Support" on Facebook.

Books:

• The Autoimmune Epidemic by Donna Jackson Nakazawa – Insights into genetic predisposition and environmental factors.

• Your Genes, Your Choices – Discusses the ethical and practical implications of genetic testing.

Testing and Consultation Services:

• 23andMe – Genetic testing kits that include insights into autoimmune risks.

• Invitae – Specialized genetic testing for hereditary autoimmune conditions.

Podcasts and Media:

• Genetics Unzipped – Explores stories and breakthroughs in genetics.

• Patient Stories by Rare New England – Features episodes on genetic research and autoimmune implications.

Healthcare and Professional Resources:

• Directory of genetic counselors from the National Society of Genetic Counselors.

• Functional medicine practitioners with expertise in genetics and autoimmune conditions.

Mental Health Support for Genetic Concerns:

• Platforms like Psychology Today to find counselors experienced in chronic illness.

• Patient advocacy organizations offering emotional support for those with inherited autoimmune risks.