April 11, 2023

From Caregiver to Patient Advocate: A Q&A with Terri Ellsworth

As a parent, you would do anything for your child, especially when it comes to their health. You do your best to stay positive, discover an inner strength and energy that you didn’t know you possessed, and become their strongest advocate. By doing so, you could also end up advocating for the rare disease community and calling for change in the complicated realm of clinical trials.

For Terri Ellsworth, this became her reality in 2005 when her son Billy was diagnosed with Duchenne Muscular Dystrophy (DMD), a rare disease that affects approximately 1 in 5,000 male births worldwide, of which there is no cure. At the time of Billy’s diagnosis, no treatment was available. Almost overnight, Terri — a designer by trade — immersed herself in research, and built long-term relationships with advocacy groups and other impacted families.

In this interview, Terri discusses her experience as a caregiver for her son, Billy, as he entered the first U.S. exon skipping trial — a trial that led to the first FDA-approved treatment for DMD – her journey as a patient advocate, and her hopes for more research into rare diseases. 

Amy Ripston (AR): As a parent myself, I can only imagine the determination you must have felt to uncover all the options for Billy’s care after diagnosis. Can you share how you found out about the clinical trial?

Terri Ellsworth (TE): We actually learned about the trial from my good friend, whose child also has DMD, and not our doctors. I remember the excitement and urgency in her voice as she mentioned the trial focused on Billy’s mutation, and that we needed to call right away to get screened. We were very lucky. Unfortunately, my friend’s son had a less common mutation and wasn't eligible for the study. It was a bittersweet moment for me, knowing that we were fortunate enough to have the opportunity to participate in the trial, but also feeling the weight of the reality that not everyone will have the same chance.

AR: This was the first U.S exon skipping clinical trial for DMD. Can you describe what it was like when you found out when Billy was accepted?  

TE: I remember receiving a voicemail from Dr. Mendel inviting Billy to screen for the trial. Although I couldn't speak to him until the next morning, I experienced a range of emotions from excitement to anxiety and happiness. It's important to note that at the time, Billy was only 10 years old. Ultimately, there were 12 boys in the trial, ranging in age from 7 to 11. They were all so brave. 

AR: How did you navigate conversations with Billy around his disease and participation in a clinical trial, given that he was so young?

TE: The best way for me to describe it is that the right words came at the right time. Billy understood that his muscles didn't function properly due to his diagnosis of DMD, and that this clinical trial presented an excellent opportunity, but with no guarantees.

We were open and honest with him, but we carefully avoided using the word 'fatal'. It wasn't until he was about 11 years old, during the MDA telethon, that he first heard that word used in connection with his condition. It was difficult to hear him ask if it was true, but in spite of that, he had maintained a positive outlook.

AR: What were your biggest concerns during the trial itself?

TE: Billy participated in the clinical trial for over 5 years, during which time my biggest concern was his safety. The treatment involved infusions, and after each session, I would examine his entire body for any signs of reaction. For months, I did this every week. Eventually, we became confident that he wouldn't experience any reactions. However, one day, his arms became red and rashy. We were relieved to find out that it was just cold dermatitis, caused by working on a cold stainless steel table. Nonetheless, even today, rash is listed as a side effect of this therapy. This experience demonstrates the care and integrity that clinical researchers abide by — they had to report it as an adverse event.

AR: How is Billy doing today?

TE: The aim of the therapy was to slow down the progression of Billy's DMD and turn it into Beckers, which is precisely what happened. We have been incredibly fortunate. However, at some point in the future, Billy will require another line of treatment. The greatest concern for him and all boys with DMD is the impact on their cardiac muscles.

The drug that Billy has been taking for the past 12 years is a first-generation therapy. Thanks to the bravery of the first 12 boys who participated in the clinical trial, more funding has been directed towards DMD research. A second wave of treatments is currently undergoing clinical trials, and there is an exciting possibility that a gene therapy will be available by the summer.

AR: What do you hope to accomplish with your advocacy work?

TE: When I reflect on that initial trial and the tremendous amount of hope we had for its success, I am incredibly grateful for where we are today. However, there is still so much work to be done, and as a parent, I will never stop advocating for better science, awareness, and access to treatments.

If I had to convey one critical message to the pharmaceutical industry, it would be: do not overlook the ultra-rare mutations. I think back to my friend's son, who has no treatment options available to him. The science is available to help him and so many others, and we cannot lose sight of that.

Learn more about DMD or other rare diseases from the following resources:

Muscular Dystrophy Association (MDA) - mda.org

Parent Project Muscular Dystrophy - parentprojectmd.org

Cure Duchenne - https://cureduchenne.org

National Organization for Rare Disorders (NORD) - rarediseases.org

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