Reflecting on my years with the FSHD Society

By June Kinoshita

As I step into a new chapter of my life, I find myself reflecting on the extraordinary 13-year journey I’ve had with the FSHD Society. What began as a leap into the unknown evolved into an experience that changed me personally and professionally—and, I hope, made a difference in the lives of many within our community.

My path to the FSHD Society was anything but linear. With a background in science journalism and nonprofit and for-profit leadership in the Alzheimer’s and molecular oncology spaces, I was no stranger to advocacy or research. Still, when a headhunter reached out about a small organization serving a rare disease community, I had to do my homework. I Googled “facioscapulohumeral” and read the landmark 2010 Science article about the genetic mechanism of FSHD. I remember my excitement, thinking this DUX4 is a fantastic drug target, and I wanted to help bring a treatment to people who had none.

When I arrived at the office—literally a repurposed broom closet—in August of 2012, it was just three of us: co-founder Dan Perez, Doris Walsh the office manager, and me. I was deeply impressed with what Dan and the board had done to establish the Society and the scientific groundwork that would take us into the era of drug discovery. But the enormity and urgency of our task soon became evident. Knocking down DUX4 would be the easy part. Proving that a drug worked in such a variable and unpredictable condition—that would be our Mt. Everest. I knew what it would take to reach that summit and could anticipate all the ways we could fail along the way.

The most daunting challenge was to stir the people and families living with FSHD to act. There were thousands of them out in the world, not knowing their disease, or passively waiting for a cure, or dismissive of the idea there ever could be one. They held the key. FSHD is a uniquely human condition. Mice and monkeys don’t get FSHD. Hundreds of people would need to volunteer for natural history studies, donate blood and muscle samples, and give time and energy, fueled only by hope.

Learning by listening

I knew nothing about FSHD. Dan Perez was an incredible teacher, but his was just one perspective. I set out to learn everything I could from as many people—patients, family members, scientists and clinicians—as I could reach. I answered every call and email. I planned countless trips and called or emailed everyone on the Society’s contact list. I left untold numbers of voicemails.

Each story left its imprint on me. I vividly remember those conversations—a mother grieving the loss of her child, a newly diagnosed person desperate for assurance. These stories became the foundation of every decision: always serve, always listen, and never let anyone feel alone. This principle guides me to this day. The so-called experts know only what they can measure in the clinic. Those who live with FSHD are the real experts, whose experiences are rife with the oddities and challenges of their condition.

This is the driving idea behind our Connect conferences, 360s, FSHD University and Zoom groups. These are spaces to hear not just lectures from MDs and PhDs, but for people to learn from one another, to share not just data but wisdom. There is as much art to living with FSHD as there is science.

Growing Together: Milestones and Turning Points

Over the years, the Society transformed from those modest beginnings into a force for real and measurable change. We moved beyond simply awarding research grants. We assessed the landscape and asked, what tools and resources can catalyze and speed up therapy development? What are the gaps where the Society can step in and make a difference?

More importantly, we shifted our vision. Instead of focusing on just “treatments and a cure,” we realized our true goal is to improve the quality of life for everyone living with FSHD. Better pharmaceutical treatments have a role, but so does access to better healthcare, guidance on nutrition, exercise, physical therapy and respiratory issues, and connection to an informed, empowered and supportive community.

Some milestones stand out:

• Día Mundial de la FSHD. Working in 2015 with FSHD Global Foundation, FSHD Stichting, Friends of FSH Research, the Chris Carrino Foundation and FSHD Canada, we established World FSHD Day. We created a worldwide logo and message–a beacon calling the global community to “unite for a cure.”
• Beyond grants. The Society stepped up to take the lead in research and medical projects such as the socioeconomic burden of FSHD, the international care guideline, and BetterLife FSHD health data platform.
• Readying the field for clinical trials. We helped seed the FSHD Clinical Trial Research Network working closely with Jeffrey Statland and Rabi Tawil. We funded numerous studies to develop trial outcomes, biomarkers and imaging markers.
• Building community. We cultivated local support groups that helped jump-start the national chapter program in 2018.
• Connecting Patients and Scientists. We broke open the silos that once separated patients from researchers. The International Research Congress and FSHD Connect conference are now held back-to-back, designed to bring researchers, patients, advocates and industry leaders together to share, learn, and connect.
• Engaging with regulators. Starting with our first Industry Collaborative meeting in 2018 and landmark Voice of the Patient meeting in 2020, we have been engaging regularly with representatives from the FDA equipping regulators with information to help them evaluate applications for new FSHD therapies.
• International expansion. The Society had always funded research and welcomed members from around the world, but the global mission was explicitly mandated by the Board of Directors in 2019. We had our first European IRC that year and since then have held the congress in the EU in alternating years. We also launched the World FSHD Alliance and Project Mercury, putting into practice our mission to serve patients and families everywhere in the world.

With growth came challenges. I wore many hats—executive director, strategist, educator, and advisor. Writer, filmmaker, marketer, fundraiser, event planner and advocate. I learned the intricacies of nonprofit management, fundraising regulations, and the importance of choosing roles that fit my strengths. It has been a dream to have so many opportunities to grow and grapple with whatever was needed to get the job done.

The power of storytelling

One constant in all these years has been the knowledge that data alone will not move hearts or speed science. It’s the stories that matter—the personal narratives that resonate, inspire, and mobilize action. Whether through organizing patient testimonies for the Voice of the Patient meeting or writing and producing the short documentary “Into the Light” that weaves one young patient’s journey into the history of the Society, it’s these moments of storytelling that truly define our work.

As I plan out my next adventure, I remain committed to our mission—now through my nonprofit ventures in music education and local journalism. I’ll continue to serve, to tell stories, and to build community wherever I can.

To current and future leaders—and to every patient, volunteer, and supporter—my advice is simple:

• Keep telling your story. It gets easier each time, and those stories are more powerful than you can imagine.
• Be persistent. Change often feels slow, but progress happens through collective, dogged effort.
• Work together. Our greatest achievements came when we acted with unity and mutual respect.
• Lean into the thing that scares you. If a new challenge terrifies you, it’s probably worth doing.

Thank you for allowing me to be part of this remarkable community. I feel profound gratitude to everyone here at the Society and to the innumerable individuals in the community who have been my guides, teachers and helpers over these years. I am immensely proud of all we have accomplished together, and even more excited for what lies ahead.

If there is one legacy I hope to leave, it is that spirit of service and unity. We are most powerful when we remember who we serve—and when we lift each other up.