My Journey to Advocacy – the Story of Terri Ellsworth

Being here on Capitol Hill in Washington, D.C. for Rare Disease Week 2023 and attending a flurry of meetings and events, I am reflecting on how advocacy has played such a profound role in my life — a life I never expected or envisioned for myself.

None of us raised our hand during our adolescent years professing that we wanted to become an advocate when we grew up, but yet, here I am.

When your child receives a complex rare disease diagnosis, your world is turned upside down and everything changes in an instant. The more I read and the more I learned, the more devastated and more crushed I became. The experience is life-changing in every way imaginable.

Looking back, I wish someone had told me what I am about to share with you. The best path to find your way forward in this new journey is to seek support, educate yourself as much as possible, and be as proactive as you can. Finding and connecting with the rare disease community and fellow patients and parents can be a critical lifeline in navigating this new way of life. You can connect with the rare disease community both virtually and in person.

After our son Billy was diagnosed with Duchenne muscular dystrophy in the spring of 2005, my husband and I were like sponges, soaking up everything we could from the Duchenne muscular dystrophy community and learning from parents who already had years of experience living with Duchenne.

Finding your way forward after a rare disease diagnosis

In those early days, there were no Facebook support groups or other online support groups. My husband began reading and learning from other Duchenne parents in chat rooms offered via a Duchenne muscular dystrophy organization called Parent Project Muscular Dystrophy (PPMD). He would go to his computer each night after work to connect with this online Duchenne muscular dystrophy community ask questions and learn from the veteran parents. This was our introduction to the importance of finding Duchenne muscular dystrophy support and information. The Duchenne muscular dystrophy community, especially Duchenne muscular dystrophy support groups, would become an important part of our journey.

Parent Project Muscular Dystrophy (PPMD), which is the world’s largest Duchenne muscular dystrophy organization, became our go-to resource for guidance and information on everything about Duchenne. I began attending the annual PPMD conferences and eventually, Billy would join me as he looked forward to connecting with the other families.

Eventually, I was asked to become the PPMD connect coordinator for Southwestern Pennsylvania to mentor newly diagnosed families and provide ongoing support for veteran families via this Duchenne muscular dystrophy support group.

I have documented our ongoing progress and experiences on a Facebook page called Billy’s Journey to Hope for those who would like to follow along on our journey. This helped me stay connected with the Duchenne muscular dystrophy community and families around the United States — and even abroad.

As a lifelong resident of Pennsylvania, I never imagined that I would connect with so many families around the globe and find friendship through our shared experience. I have made friends with Duchenne parents around the world from countries including Ireland, England, Iceland, Israel, Egypt, Australia, India, and others.

Getting involved globally or locally

Not all Duchenne families can travel to national conferences due to their child’s physical limitations, family dynamics and logistics, and financial constraints. In addition to the national and regional conferences that are available through Duchenne muscular dystrophy organizations, there are online Duchenne muscular dystrophy support groups, as well as various ways for parents and families to connect locally.

For many years, we were involved with our local chapter of the Muscular Dystrophy Association (MDA) and took part in many events. I helped organize educational summits for Duchenne families — featuring physicians, academia, and pharmaceutical companies

Our local MDA office closed during the first year of COVID-19, as did many others throughout the country. Before COVID, they would have a small group session for families in person, as well as large, annual fundraising events and galas covered by local television stations. One of the highlights for the kids was that their personal artwork would be professionally framed and then auctioned off at the galas to raise money for the MDA. Billy was thrilled when one of his pieces of artwork was auctioned off for $5,000.

Several years after diagnosis, I attended my first advocacy event on Capitol Hill with PPMD. Advocacy on Capitol Hill had always intrigued me and for some reason, this was something that I could, and I wanted to do. I remember being so nervous and apprehensive, but I was told by veteran parents that I did not sound like a novice at all.

More than a decade after his diagnosis and five and half years in a major clinical trial that the world was following, Billy and I were on the frontline in Washington, D.C. in 2016 advocating for FDA approval for the first drug ever for Duchenne muscular dystrophy. He and I testified before the FDA along with 50 other Duchenne parents and patients, clinicians, and researchers.

His treatment was approved in September 2016, and he is still in therapy 12 years later.

This approval propelled the field of Duchenne drug development, and there are now four FDA-approved treatments for Duchenne muscular dystrophy in the United States.

We were very tenacious and used our voices to share our experiences in hopes of making a difference in drug development for rare diseases. This was an early example of how patients and patient organizations provided input to the FDA through a fairly new program known as Patient-Focused Drug Development (PFDD) that the FDA launched to include the perspectives of patients and families.

Sharing your rare disease story

After lobbying in Washington, D.C. for several years, I discovered that it can be very empowering. When living with a rare disease, there are so many things that are completely out of our control, but something as basic as using your voice in a pragmatic manner to help inform the decision-making stakeholders can be very effective and satisfying.

As I now mentor other parents and have volunteered as a team lead for my state, I tell them that they will be telling their personal stories and they will know more about Duchenne than the people they are speaking to, so there is no reason to feel nervous as they are educating the Hill staffers.

I am currently in Washington, D.C. participating in Rare Disease Week on Capitol Hill as part of Rare Disease Legislative Advocates (RDLA). In early March, I will attend the PPMD advocacy conference in Washington, D.C. in-person for the first time since 2020 when COVID struck.

Finding these Duchenne community connections, whether in person or via online Duchenne muscular dystrophy support groups, can be very helpful for your emotional health and well-being. They are also useful for laying the foundation of what to expect on your Duchenne journey and helping keep you up to date on Duchenne’s knowledge.

In fact, it was one of these friends, whom I met through the local MDA office, who told me about the clinical trial that Billy ultimately enrolled in. We formed lifelong bonds with some of the families who participated in the clinical trial, and we still stay in touch with these families.

Rare disease community support