Advocacy

Q&A on testing for Huntington’s disease

Seth Rotberg grew up in Massachusetts and recently completed a master’s in nonprofit management at DePaul University in Chicago. He gave a TEDx talk about testing positive for Huntington’s disease. He answered our questions about his genetic testing experience.

Watch Seth’s TEDx talk:

What did you consider before testing for Huntington’s disease (HD)?

Deciding whether or not to go through genetic testing is one of the toughest decisions a person has to face. And as a young person you have to decide: Do I want to live with the unknown or do I want to find out and think through the impact on my future?

I kept thinking more and more about testing because of traits I saw in myself that my mom had. (Learn about HD and its symptoms here). So, dropping something, tripping over something or forgetting something, I would think: Oh, that must be the HD. In reality, I’m sure it was just typical mistakes.

As a 20-year-old, my mindset was: I don’t want to live with the unknown. I want to be able to prepare for my future and the only way I can do that is by knowing my fate. Do I test positive and figure out a different way of coping and living with life? Or, if I test negative, how will that impact me personally, both mentally and in my relationship with my older sister, who is at risk of having HD?

Are there things you didn’t consider that you wish you had?

I wish I had gone to a neurologist who specialized in HD and spoken with a genetic counselor. I wish I’d had guidance for resources that would help me no matter what the results were.

I went through my primary care provider and got a referral to a neurologist. Although the neurologist was knowledgeable about HD, I didn’t go through the protocol that is typical in genetic testing. Normally, you would talk with a genetic counselor for a while before testing to make sure you’re prepared for your results and have the right support in place. If you test through a Huntington’s Disease Society of America (HDSA) Center of Excellence, they should follow the typical protocol.*

The neurologist just asked if I had knowledge and background of HD, which I did. When I went back two weeks later for my results, he brought in a genetic counselor. I kind of immediately knew it wasn’t going to be the good news because she wasn’t at the first appointment. She was nice enough to ask if I had questions, but I was too busy processing to think of any at that point.

testing for Huntington's disease
Seth Rotberg stands with his mother and sister.

I also did not tell anyone in my family for a few years. My biggest concern was my mom, who had HD. I didn’t want her to suffer more. I didn’t want her to worry or feel guilty. Family is very important to me and I was trying to protect them. I didn’t want my older sister to feel added pressure to test. My dad was a caregiver for my mom, so I didn’t want him to feel stressed or overwhelmed because he already had a lot on his plate.

After I finally told them, I realized my 20-year-old mindset might have been overthinking it. I should have told them from the beginning. Once I told them I felt more comfortable telling others and just didn’t have that deep, dark secret in the back of my head all the time.

Anything else you’d share about the process for those considering it?

You can get tested on your own when you turn 18. But learning your results at such a young age makes you gain this extra responsibility, and mature at a lot faster than your friends.

There’s probably not going to be an ideal time to test. You’re not going to wake up one day and know. It is a very personal decision and one that should be based on what you think is best for you and maybe your family. You can hear other people’s stories, and talk to friends and family, but ultimately it’s your decision. Once you go through it—there’s no turning back.

In my opinion, you should not test the way I did and instead follow the genetic testing protocol. I know people that tested and then waited up to a year to learn the results. They did genetic counseling for a year or longer. Or they did the blood draw but then realized they didn’t want to know the results. That’s OK.

Overall I would say: Make sure you’re surrounded by the right resources and support, and walk through the process with a genetic counselor. Talk to friends and family about what it will mean if you test positive or negative. Go through scenarios in your head or with others and mentally prepare for any result.

Do you have advice for others who have positive test results?

You could feel any mix of emotions—overwhelmed, upset, angry, frustrated. And that’s OK. Remember that it’s OK to be vulnerable. As a young male trying to be strong for others it has taken time for me to learn to let my guard down and open up about how I’m feeling. The longer you hold in something, the tougher it gets. Eventually, it all comes out when you’re not anticipating it and that can be challenging.

Vulnerability won’t happen overnight, but I do think talking to friends about your experience helps. What I’ve learned to do is diversify who I talk to for support to get different perspectives. Because maybe someone from outside the HD community or from a different rare disease organization has a view I never thought of. Or maybe a family member or someone from the HD community has gone through it.

It’s valuable to have a person or a group of people to connect with whether they personally understand or not. That can definitely include a professional—social worker, therapist, psychiatrist, anyone that you think will help you cope.

Did the test results change the path you had envisioned for your life?

It definitely did, and I think in a good way, as weird as that might sound from the outside looking in. I was able to use my results as motivation to get more involved within my own community, and then to try to inspire others who are impacted by a rare disease or another challenging circumstance to show them that it’s OK to live life one day at a time, that each day is a new day.

Seth spreads HD awareness while enjoying Costa Rica in June.

Getting tested and learning how HD will impact my future gave me more opportunity to take a risk. I never thought I would move outside of Massachusetts, but especially once my mom passed away, I thought it was time to try something new. I moved to Chicago and decided to get a master’s degree. In June I went to Costa Rica with a friend. We went bungee jumping. These are little things, but my motive is: Why not? Let’s just do it. Let’s take life a day at a time and live in the moment. Life is just too short to live in fear.

Ultimately though, I found out I just want to be happy and I want to find my purpose in life. At the end of the day it’s about finding what’s going to be meaningful for me and not feel like a job. My perspective has changed on life. It’s more valuable than we sometimes think, and I don’t want to take anything for granted.

Were there other positive aspects of testing?

There’s not many. But for me, the main positive was knowing what my future held. Whether it was about family planning, my career path—I didn’t have to live with the unknown and I knew what I was destined for.

And negative aspects?

The negatives obviously are that once you test, you test. Even if you test negative, you can experience survivor’s guilt—which means you might feel like you have a disconnect now from the disease or your loved ones that have it.

Also, something like sharing my story means my results are out there and accessible to the public. Testing positive can impact your ability to get life insurance, your disability care, your health coverage. Simply Googling “Seth Rotberg Huntington’s disease,” several different things pop up on Google regarding my journey. I’m OK with that, but I think everyone should think about that before sharing publicly.

What does family support look like and mean to you?

After finding out my results, I told a few friends. But I didn’t know how my dad, my sister and my extended family would react, and I didn’t want my mom to find out.

Three years later, some turning points in my life made me realize it would be important to tell my dad and my sister. It was very tough because I wasn’t just telling them the news, but also saying: Hey, by the way, I hid this from you for a few years. Both were very supportive and understood where I was coming from and weren’t mad. They just said: OK, tell me more. I want to learn more.

A weight lifted off my shoulder. I felt comfortable just being myself again and not feeling like there was this hidden dark secret I had to hide. My mom never found out that I tested. And that was the biggest thing I was concerned about. Before I told my aunts, uncles and cousins, 20-year-old Seth thought they might say something accidentally or feel obligated to tell my mother. But in reality, they never questioned it. I told them I didn’t want her to know and they understood.

They’re all very supportive from the beginning to the end. It’s great to see that they have my back, and it brought us closer as a family. If I am doing a fundraiser or speaking they will be there, or they ask how they can help. My uncle joined a local HDSA chapter board and is now the president. It’s great to see they’re willing to fundraise and raise awareness not just for me or my mom, but because of the impact it has on the whole family. That is significant.

Genetic testing, and especially testing positive, can carry a big stigma. People don’t want to be treated differently. You don’t want to be judged. I still think about it when telling people. I don’t want pity. I don’t want you to feel bad. I’m telling you because I want you to know what the disease is and how it’s impacted my life.

Do you have other suggestions for finding support?

Don’t be afraid to reach out and ask. You can search online for different organizations that support your specific rare disease and see if they can connect you with others. When you first learn about an illness you can feel isolated. But when you start looking you’ll find people who understand or offer an outlet, and that can help you accept your experience and feel more comfortable talking about it.

Any other advice you want to share for someone considering testing for Huntington’s disease?

I’ll highlight again the benefits of going through someone who’s knowledgeable about the rare disease you’re testing for. They make the process more manageable. They can help you decide whether to test, and make sure you have the education and support you need if you do it.

To contact or find out more about Seth, visit his website.

*The criteria for HDSA’s Centers of Excellence program can be found here. They include following HDSA’s genetic testing protocol as described here.

 

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