Metro Detroit Mother Sparks Medical Breakthrough for Rare Disease

Photo courtesy of Ruth Acton.

Ruth Acton (Howell, MI) faced a daunting journey when her son Jack was diagnosed with Friedreich’s Ataxia (FA) at age 10. With no existing treatments, Ruth embodied Detroit’s spirit of resilience, diving into FA research and collaborating with a biotech company, leading to the first FDA-approved therapy for FA.

Now, 15 years later, Jack, at 25, stands as a testament to perseverance and the profound impact of a mother’s dedication in transforming the landscape for FA patients. Ruth continues to make a difference in the FA community through her full-time role at the Friedreich’s Ataxia Research Alliance (FARA), guiding other caregivers through similar challenges.

I was recently honored to have a Q&A with Ruth and Jack regarding their journey with Friedreich’s Ataxia (FA).

Q&A

When Jack was first diagnosed, what motivated you to start your own research?

Ruth:  I had a basic understanding of the pharma/biotech industry from my work for a pharmaceutical company and knew that there are always new and emerging companies in the space. When Jack was first diagnosed and we learned that there was no approved treatment or cure for FA, I was frankly desperate. From FARA’s work to explain and fund FA research, I was better able to understand what different approaches there might be to take on such a complex disease. Seeing what they had already accomplished, I was inspired to try to help in any way I could, for Jack and for others in the FA community. 

What do you remember about living with FA as a kid, and how did you stay motivated before there was an available treatment?

Jack:  I don’t really remember a time when I wasn’t dealing with FA, although we didn’t know what it was at the time. My coordination and balance problems began when I was really young, before I was 5, so I just remember going to a lot of  different types of therapy to try to manage and adapt to what I was dealing with. ○ Really, before and even after the diagnosis, I didn’t let FA get in my way of doing whatever I wanted to as a kid. It was just something I had to deal with. I never knew anything different, so being motivated was about just living. Quitting what I was trying to accomplish was never really an option. I just needed to find another way of doing things sometimes. 

When Jack was diagnosed and you realized what it meant for him, how did you go from searching for answers to sparking a breakthrough?

Ruth: Searching for answers was a way for me to process the diagnosis and the realization that we were now in a completely different healthcare landscape. At the time, it felt like all I had were questions. Fortunately, FARA did a great job at laying out the different research pathways and priorities to understand the disease and how treatments could be developed. It was their discussion of how antioxidant therapies might help the cellular dysfunction in FA that led me to question whether the Reata compounds might work in FA.

You’ve now been on the only approved treatment for over a year. How has it impacted your outlook for the future?

Jack: I still take things day by day, but knowing that a treatment got through the approval process gives me hope for even more to make it.

What do you hope other families facing rare diseases take away from your journey of persistence and advocacy?

Ruth: That there are amazing communities working so hard to make hope real and that everyone can play a part.

What does resilience look like for you today?

Jack: I think resilience always takes work, grit and being part of a community that supports each other. 

 How does it feel to know that a journey that began in Howell, MI, is now changing the lives of people with FA?

Ruth:  I feel very connected to the FA community and am incredibly grateful for the researchers and clinicians around the world who are doing such brilliant work. I believe that if we all keep asking questions and working together to find answers, more treatments will happen. 

Looking ahead, what message do you want to share with the rare disease community—patients, families, and researchers?

Jack: Don’t give up. Now is the time to build on success and work even harder.

Ruth: I am grateful for the work and sacrifice that have led to this point. What is happening now and what will happen in the future is because of the great work, determination, and sacrifice of those before us. While it never happens quickly enough, like FARA, I believe that transformative change occurs at the intersection of people and science. That is where we can all work on finding the answers to the questions that remain.