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#102 Seth Rotberg on Huntington Disease

by Kira Dineen
May 3rd 2019

Seth Rotberg, a rare disease patient advocate and motivational speaker, joins the show to share his perspective on Huntington Disease (HD).

From 2011 – 2015, Seth served on the boa... More

how is it that we find ourselves surrounded by such complexity. Such elements, jeans and me made of DNA were all made of the same. Hello, you're listening to DNA today a genetics podcast and radio show. I'm your host here, Deneen DNA today. Informed on what's happening in the genetic world. During my broadcast here, I educate you the public on genetic and health topics through news and interviews, guests include people like genetic counselors, researchers, doctors, patient advocates like today and professors. My guest today is Seth rapper, a rare disease patient advocate and motivational speaker. He's a mentor for young people who face adversity by sharing how to take how he takes control of his HD journey, which has given him opportunity, fulfillment and hope. Thank you so much for coming on the show. So yeah, thank you very much for having me here.

So I want to start out by asking you about Huntington's disease so we can educate those that may not know how does Huntington's disease affect the body and mind. So Huntington's disease, which is also known as HD, impacts a person both physically and cognitively. As you mentioned with the physical aspect, it actually used to be called Huntington's chorea because of the involuntary jerking or poor balance these muscle problems. But over time they realized that it's not just the physical movements but the cognitive decline such as memory loss, Trouble with decision making, Comparison 1's Mental Capabilities. So that that kind of is how it impacts the body and mind. But the worst part about the diseases that there is no cure and some people even call it the most curable, incurable disease because they know where the gene is, but they just don't know how to fix it.

So it's important that we do know the gene, I'm sure when that happened, it was kind of a landmark event for the Huntington's disease community. But we need more research to be able to actually target the gene, possibly gene therapies to cure this disease. Yeah, absolutely. And what better way to do that than to try to get patients that we're trying to get this cure for more involved. My hope is to try to get more young people involved with research, whether it's an observational trial or even some clinical trials, depending on what stage they are with Huntington's disease. I know that it's important to get because they're the ones that are going to be taken the soon to be treatment or you know, the medicine. And we need to figure out if they want to take it once a day if it's a pill. Is it a spinal injection? You know, or is it something totally different. But I definitely think it's important to work closely with that target population again, whether it's Huntington's disease or another rare disease that doesn't have a cure.

And where does your journey with Huntington's disease begin? You've been very active in the community for years now. Um where did you start? I was gonna say a drake joke, you know, started from the bottom now. It was about when I was 12 when I started noticing the symptoms of my mom but not knowing what it was because my mom just like many cases was with rare disease patients, was misdiagnosed with being bipolar, having these mood swings, major depression. But it truly began when she was officially diagnosed a few years later when I was 15 years old. But it was just something I truly didn't understand and I didn't want to understand being in denial, not wanting to talk to friends about it, embarrassed out and just wanting to life, which unfortunately was taken away from me once my mom was officially diagnosed and when she was diagnosed, what was that process?

Like was it seeing a lot of different doctors? Was there certain neurologist that was following her and helping her with that diagnosis? It was a crazy thing because again, we didn't know what it was. There's often times where my mom and I would be getting into these arguments or my dad and her would get into arguments. One one day, we finally just had this intervention with her. I remember my, my aunt and uncle and my other aunt came, came to our house and we sat my mom down saying, listen, we need to, you know, check you in and evaluate you to suit otherwise. You know, Seth and my dad, we're gonna leave and figure out what those next steps were and I'll tell you she was not happy because we were pretty much saying, hey, we're gonna check you into a mental facility to figure out what the heck is going on with you. And looking back, Yes, it was very tough to admit that we did this with my own mother, but it was a blessing in disguise because if we didn't do this, they wouldn't have ran all those tests.

You would have saw these doctors and got evaluated to finally figure out okay. Huntington's disease is in our family and my mom was the first one to be officially diagnosed with it. And so since Huntington's disease does run in families, like you said, have you also had other family members that are older than your mother of other generations that were affected by Huntington's disease. Unfortunately, we tried tracing it back. We know it was on a mom's dad's side, but he died for due to other complications. I think it was some type of heart disease or heart attack. I'm not quite sure. But my mom is one of four. She was the only one who tested positive, figure out much past my mom's dad because we found out my mom's cousin also had HD. So we figured that part out. But unfortunately that's the furthest we could go back and that's the reality for a lot of families that if there are deaths that occur earlier in life, there's not necessarily enough information to say, okay, we can really trace this gene back to say this is the inheritance pattern that, you know in textbooks, that's easy to do.

But in real life, that's not necessarily always the case. Absolutely. And it was frustrating because we didn't know anything else besides that. There's no other information. And with a gene like Huntington's disease, I was always hoping to find out more, but we just kept running into dead ends and just kind of had to leave it as it was. When was it that you first realized that you could inherit what your mother has of having Huntington's disease? Because it sounds like your family was really figuring all this out and not knowing that this ran in your family when I was a freshman in college. That's when it truly hit me. So I first learned about it when I was 15, 3 years later, I'm 18, started doing more research. And what most people do is they go to google because google knows everything these days, Right, definitely. So I went to Google checked it out.

And what shocked me was seeing that 5050 chance because what I thought was I was in the clear since I was in this biology class, my junior in high school. And remember I'm sure you remember the punnett squares? Yeah, Yeah. Yeah. So I was doing those punnett squares and I was taught that because my dad's a dominant gene and my mom's excessive, I'm in the clear, but that's not how it works with Huntington's disease, No opposite, complete opposite. But I didn't know this and I wasn't aware of this and my biology teacher obviously didn't know too much about Huntington's disease because he was the one that I talked to about this. So I think that's kind of why I push it aside. And then when I just started looking looking it up in college, that's when I was like, wow, I was wrong and now I'm at risk, what should I do? And so when you were asking yourself and kind of taking all this information in what was your thought process like of should I get genetic testing to find out?

Did you even know that you could do that? I knew that there was a way to do it. I wasn't share what the options are, resources were at time. I spoke with my sister and my aunt actually about this to try to get their opinion because of course I knew that my sister was also at risk and I trusted my aunt to kind of give me her her view on it. Both of them. Just thought, you know, Seth you're still young, your freshman in college, you're probably just overthinking this. So I just kind of brush it aside because I would trip over something or drop something or simply just forget what my friend just told me and it just reminded me of my mom with the similar traits, I didn't know if this was the HD or if I was just overthinking it. But after talking to my sister and my aunt, I decided to continue just not worrying about it. But that following year when I was 20 years old, it just kept coming back in my mind and I'm a big planner.

I like to plan for the future. I wanted to know if I test positive, how is this going to impact my future, family, planning my finances, anything else relevant? But even if I test negative, what about my older sister? You know, she's still at risk. Will I have what people call that survivor's guilt? So, these were questions I kept asking myself which kind of brought me to the idea of All right, Seth, let's get tested. Let's figure out what those next steps in your life are going to be and what was the process like for you of going through the genetic testing? Was there a genetic counselor involved neurologists? What did that look like for you? That's something that I always love to address. I'm glad you brought this up because my testing experience was definitely very different from most people. I thought that again, being 20 years old, not knowing much, not knowing what Hippo was.

I thought that uh if I went to my mom's neurologist, he might say something or you know, just tell me I can't do it. But I just I didn't want to take no for an answer. So I thought another option. I'll just ask my primary care doctor house semi referral, which he did. I got referred to a neurologist in boston and I went in, I spoke with him, he asked me about the history of Huntington's disease, asked me a few other questions, making sure I was okay and ready to do this. I said, yeah, let's let's do this while this is happening. I'm by myself. Ah my two friends who were supposed to come, we weren't able to make it. I drove an hour and a half to the appointment from college. None of my college friends knew, No one in my family knew and the reason I didn't tell my family wasn't because of me being selfish but me trying to protect them because my mom was still alive.

I didn't want her to feel guilty. She was already suffering. My dad was a caregiver and I just didn't want to be another burden to him. I didn't want to stress him out. Like I mentioned before, my sister also being at risk. I didn't want her to feel pressured. So I went to that first appointment by myself two weeks later I go back, I have a friend this time I go into the exam room. The neurologist introduced me to the genetic counselor who wasn't there at the first appointment because he said she was on vacation that's interesting. Yeah, yeah on vacation. I and of course my mindset is just thinking is a positive negative, but now looking back, I wish I said, how was your vacation? Because I think you should have been here for that first appointment or should have had another genetic counselor be covering that person. Absolutely. That seems like a normal practice. I Milat.

So of course, as soon as I see this genetic counselor, I knew it's going to be bad news and they're all just told me I tested positive. Him and the genetic counselor asked about any questions were explaining it, but I didn't really listen to them because I just immediately went to, okay, what are my next steps? How am I going to live my life? Who am I gonna? Who else am I going to tell? And it's so hard to take information that that's significant in but also be hearing the other information they're sharing at that point, your brain must be like, okay, I need to just absorb this. I can't take anything else in. Absolutely. And I know and correct me if I'm wrong. They usually highly recommend to follow up afterwards. Is that right? If you can? That's always a great thing. Yes. I was looking at my, my paper that showed the results and it actually says highly recommended follow up, I think six months after, but they never called me never checked in.

So they dropped the ball on you. Usually genetic counselors are a little bit more proactive about following up or have a situation in place. But there are different cases of course. And I don't tell my story to say, all right, everyone should do what what Seth does and test them, you know, test anonymously or don't go through the protocol. I tell people because I say don't do what I did do the opposite work with the genetic counselor. Because what I found out is after, You know, I just at 20 I'm 27 now and after about six years I realized I was ready to talk to genetic counselor. I wanted to learn about family planning what my options were. I think that's perfectly fine. And I think that you raise a great point with that the genetic counseling doesn't mean just genetic testing. That there are so many other things to explore and learn about that are related to genetics but aren't necessarily just this testing and the results themselves, that genetic counselors are really navigators to help patients in their journeys of whatever they're going through and also their support system that you said it would have been great if you were able to bring someone at that first appointment.

Yeah. They didn't even mention that. They just told me to show up. I made an appointment for both appointments which just kind of reminded me saying, okay, if I can go back in time, what would I do differently? And those things would be simply going through an expert or specialist in that obviously with Huntington's disease. But for anyone who wants to go through genetic testing, making sure that they Go through someone who understands the disease and the importance of going through the process no matter if you're 18 or you're 70 but also being comfortable talking to my family about it because again, it took me 23 years to actually tell my dad my sister and then tell my extended family. And how was that process for you? Like how it took you those years to really at first you were thinking like you were trying to protect them as you said, of not giving them more bad news of already dealing with your mother who was affected by the illness and everything that what switched what made you want to tell them.

And and how was that actually sitting down and doing it. one of the toughest decisions anyone ever has to make is telling obviously bad news, but also news about an illness or disease, especially one without a cure or in some cases say a low survivor rate. But what kind of changed my mind was over the years I became, became more comfortable sharing my story with friends and hearing their perspective. And the biggest turning point actually happened. I guess there's 22 big turning points losing to two friends of mine at a young age, one was a good friend from college who past who unfortunately died in a off campus fire uh in his apartment. And that was my senior year, the day before classes are supposed to start back up being with him 3 4 hours before this and trying to be like is this real life?

How did this happen? Why did this happen? Because he lived life to the fullest. He understood what it was like live life a day at a time and just live with no regrets. But then a short time after that I lost another friend to the juvenile version of Huntington's disease, which to the juvenile J. H. D. Is what it's called juvenile Huntington's disease. It just means that that C. A. G. Chromosome repeated a lot higher, which means it's more progressive especially for these Young kids. So my other friend passed away I believe at the age of 26 and she was always sharing her story and and raising awareness and always had a smile on her face which made me just think if my two friends can have a positive outlook on life despite these tragedies, how come I can't do the same. And now is when I realized you know, Seth it's time to open up, share my story, tell my dad my sister and let's do some more to raise awareness about this devastating disease not only for my mom and for my sake but for people I've met along my journey who have been impacted by Huntington's disease or now impacted by a rare disease so that we can try to make a difference.

And it's so inspirational to hear all the hardships you've gone through losing two friends in your twenties. Like I can't imagine losing, I'm 23 losing two really close friends is just um really hard to go through along with all of your family struggles. Um very inspirational to be able to turn that around and bring that motivation into the HD community. You're involved with a lot of organizations. Can you share a couple of those and uh maybe give listeners a little preview of your new podcast. Absolutely. And you know, for me it's just trying to continue to motivate others, stay inspired myself. But one of the biggest organizations I'm involved with is called the Huntington's Disease Youth Organization or as the young people call it, which Even though I say, you know, I'm 27, I was gonna say you're still a young person, young person old soul though. So what the young people call it is H.

D. O. It's an international nonprofit who support young people worldwide impacted by Huntington's disease, providing social, emotional educational support by professionals. So I sit on their board and I just love it because again, growing up seeing that experience, I want to make sure I can share my story or do whatever I can to make sure these young people are getting the proper resources and services to be able to cope better with the disease, not feel isolated and hopefully improve their overall quality of life. Besides this organization, I'm still fairly active and involved with just Huntington's disease in general. I've been trying to do some talks and engagements. I did a ted x talk actually on my, on my journey, which was amazing. I highly recommend it. It's really inspirational. I appreciate it. It was an amazing opportunity. But it made me actually realize it's not just about Huntington's disease but about rare diseases in general and the impact it doesn't only have on all people, but young people too.

And the types of services that we can provide. Young young adults. Young young people such as an online support group or in person made up or even just a simple peer to peer mentoring program. So I'm trying to start in a few different initiatives, mm supporting these young adults, trying to make sure that they have the proper services, especially year round services. A lot of times. We'll go to these camps or conferences or events, you get all excited. You connect with people. But then what happens after that? You go back to your regular life. So how do we keep that momentum going to keep these young adults engaged feeling empowered to continue making a difference in their own community and that's so, so powerful? Like you said to be able to do that year round because I've been to camps for rare diseases and you know, you leave feeling like I want to still stay connected with everyone um that that's so powerful and There are so many people affected by rare diseases.

We're talking about 30 million Americans, which ends up being one in 10 people. So it's rare diseases, but together it's really not rare. I agree or what I call it is it's more than just rare, not being defined by the disease, but being defined by who you are as a person and just working together as a, as a big team rather than as individuals, definitely very well put well, thank you so much for sharing your journey with Huntington's disease and all your patient advocacy efforts. Um, thank you so much for being out there and doing this and inspiring people. Uh really appreciate it. I appreciate you having me on the car and I know I forgot to mention the podcast, the podcast so real quick, my, my good friend and and I are both rare disease advocates. We decided to put put together a podcast called Rare Unplugged. You can listen to it for free on the, it's called anchor app. Like think of like the movie anchorman anchor. Um, and it's just a way to really dive deeper into these topics that may not always be discussed in the rare disease space, bringing in gas, but also sharing our own experiences and expertise in different topics and subjects, but definitely excited to check it out.

And again, I appreciate you giving me the opportunity to come on this podcast, definitely. And your podcast is called Rare unplug. So you guys can definitely check that out. The link to the podcast as well as his ted talk and lots of other things like HD video will be on DNA podcast dot com. So you don't have to remember everything just DNA podcast dot com. And that will bring you everywhere else. You can also check out his website is just his name, Seth Rotberg.com on Twitter. He's at S Rotberg 15. And if you want to follow me on twitter, I'm at DNA podcasts instagram at DNA radio in any questions for the two of us. If you don't want to be publicly posting on social media, um, you can send into info at DNA podcast dot com and I can afford them onto Seth if there for him. So, thanks again for coming on the show. I think you've really enlightened a lot of people about Huntington's disease as well as the rare disease community. Well, thank you again for having me and let's go out and make a difference, definitely. Thanks for listening guys and join me next time to learn discover new advances in the world of genetics

#102 Seth Rotberg on Huntington Disease
#102 Seth Rotberg on Huntington Disease
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