The patient perspective on advocacy

Growing up with the shadow of Huntington’s disease (HD) means Seth Rotberg understands the importance of peer support and credible information. Seth, now partnerships manager at healthcare social network Inspire and member of the Huntington’s Disease Youth Organization’s (HDYO) board of trustees, speaks to Deep Dive about learning to live with a rare disease and his passion to help others do the same.

How did you first find out that you had HD in your family?

My mother was diagnosed when I was 15, but she had been misdiagnosed for five to seven years before that.

It is a rare neurological degenerative disease that slowly deteriorates a person’s physical and cognitive abilities. I’d describe it as like having motor neuron disease (ALS), Parkinson’s, and Alzheimer’s all at once.

It was five years later, at the age of 20, that I decided to go through the genetic testing and I found out I carried the gene. So I’ve known for eight years now about my gene status.

Was it a difficult decision to have the genetic test?

I didn’t know enough about genetic testing for it to be a difficult decision, and I was tired of living with the unknown. But looking back I wish I had gone through it with a genetic counsellor and neurologist who specialises in HD. In the UK, you have to go through gene counselling before you can have the test. But in the US, where I live, you can simply go and get a referral from a primary care physician.

Genetic counselling is very valuable, because they’ll walk you through the process and make sure that you have the right resources.

Even if you test negative, you might have survivor’s guilt, or you may be worried about a sibling who is at risk. A genetic counsellor will talk to you about what you will do if you test positive, and what you will do if you test negative.

Where did you turn for help?

When I first learned about HD on the internet, it was very intimidating. I felt I had no one else around to talk to about it. Everything I saw online was a symptom my mother experienced, and I had no idea what I was supposed to do next.

But over time, I realised that there’s more support out there, that there are people like myself who are experiencing similar challenges. That’s when I started doing more research on non-profits, healthy things to do, how I could get involved and support others.

It started with a Google search to learn about a local fundraising event, and then I learned about meeting people in person. I started going to conferences and meeting people there and finding online resources through professional bodies and patient advocacy organisations.

The biggest thing for people living with a rare disease is finding proper resources. Just like myself, everyone seems to turn to Google for answers. Now, I would always recommend reaching out to a non-profit organisation working in your condition and seeing if they can help you find support.

How did the diagnosis impact your outlook on life?

When I was told I was an HD gene carrier, I realised I wanted to use that result as a motivation to get more involved in the “fight back” through fundraising and advocacy efforts. That’s when I started doing more in the community through charity events, joining local and national chapter boards, and getting involved professionally.

I really wanted to focus on young people impacted by HD so I joined the board of trustees for HDYO, which supports young people impacted by the disease worldwide.

How did you get involved in Inspire?

That happened last January when I did a TEDx Talk of my story. It was an amazing opportunity. It opened my eyes to the fact that it’s not just the HD community that is impacted by these issues, it’s everyone who has one of these 7,000 rare diseases.

I then learned about a partnerships manager role at Inspire. The job was to build stronger partnerships with rare disease advocacy groups that partner with Inspire.

I really value that kind of work, where it’s about understanding people’s needs and finding out how they can best be supported.

What role do peer support communities like Inspire play?

It’s a place where people can connect with each other anonymously, but it’s also an opportunity for people to opt into research to help accelerate medical progress.

Often, insights from patients and the caregivers are not considered by industry from the first stage of clinical research. It might be halfway through the study or even at the end before they are asked. But by listening from the start, we can really speed up the research process by understanding their needs.

Each rare disease has different challenges, whether it’s finding the right doctor, finding the right treatment, getting involved in local research or making sure there’s research going on in your condition. It’s about trying to connect patients and caregivers to one another so they know they are not alone in their journey.

Ultimately, we’re just trying to help make sure people are getting the right resources and the right support. We want to make sure they are getting credible educational content, that they can connect with other patients and caregivers, and share their experiences with one another.

How do you ensure the information shared on Inspire is credible?

The online community is moderated around the clock by a team of my colleagues to make sure people are aligning with our community guidelines.

We also partner with our patient advisory organisations to ensure there is credible information in our community. We can look to involve the partners and their trusted resources wherever possible.

What do you enjoy about working in rare disease patient advocacy?

I love learning about these 7,000 different conditions. As partnerships manager, you’ve really got to build relationships with non-profits. It’s about understanding the needs of their community and how we can best support them.

How have your own experiences helped you to do that?

I definitely feel I can speak up as an advocate, and make sure people get the right online support. I feel like my role is valuable because I’m really trying make to help make a difference, not just in HD, but in all these different rare and chronic conditions.

The one thing that really helped me out was understanding that I was not the only one dealing with a rare disease, that there were other young people out there with similar challenges.

In my job, hearing other people’s experiences is what motivates me, and I am always asking what more I can do to help them. Hearing different stories, whether it’s through my HD advocacy work or through my professional life, that’s what drives me.

About the Author

George Underwood

George is part of the senior editorial team at pharmaphorum, previously working at PharmaTimes and prior to this at Pharmafocus. He is a trained journalist, with a degree from Bournemouth University, with specialisms including R&D, digital and M&A.

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