A Mother’s Perspective: World FSHD Day Stories

By Erin Folk

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In the spring of 2024, we began searching for answers about my daughter, Kinsley. At just 13 years old, she began losing muscle on the right side of her face. We first noticed her dimple had disappeared, and over time she grew increasingly self-conscious about her smile.

By August 2024, doctors diagnosed her with Parry Romberg Syndrome, a rare condition. She immediately began treatment—steroid infusions and weekly methotrexate injections. Her progress was monitored through regular bloodwork, especially muscle enzyme levels.

At first, there were signs of improvement. Her enzymes dropped, and we felt hopeful the treatment was working. But just two months later, in October, her enzymes spiked to an all-time high, and Kinsley began experiencing new weakness in her core. It became clear on the basketball court—her safe place and passion—that she couldn’t keep up with her teammates.

As her symptoms grew, so did her team of doctors. Test after test followed, each one inconclusive. Her symptoms soon began to affect daily life. Walking long distances became difficult. She needed extra sleep and didn’t have the strength to participate equally with her peers during strength and conditioning activities. She has always loved volleyball and continues to participate, but it is heartbreaking to watch her struggle to keep up. This is a child who once performed extremely difficult gymnastics maneuvers—now unable to do exercises that require core muscle strength. Kinsley also developed scapular winging, uneven shoulders, and further weakness in her core. For a teenage girl already navigating the challenges of adolescence, this has been especially difficult.

What makes it even harder is sitting through doctor’s appointments, where her physical differences are pointed out repeatedly to medical students. Each time, Kinsley is forced to listen as people catalog all the things that are “wrong” with her body. It is absolutely heartbreaking to watch. As a parent, I have struggled deeply watching this decline. We continued to search for answers, holding on to hope for a diagnosis that would be treatable and temporary. Unfortunately, that was not the case.

In May 2025, a genetic test confirmed a second diagnosis: Facioscapulohumeral Muscular Dystrophy (FSHD1). This diagnosis was in addition to Parry Romberg Syndrome. The news was crushing. With Parry Romberg, there was at least a plan—two years of treatment, followed by reconstructive surgery to restore muscle loss in her face. With FSHD, there is no such plan. There is no cure. There is no treatment to stop the progression—only care and management. As a family, we are not only devastated by the diagnosis itself, but also by the lack of resources and services available for patients with FSHD. The disappointment is overwhelming, and the uncertainty about what the future might hold for Kinsley is frightening.

Through all of this, Kinsley has handled herself with grace and courage. She continues to push forward with a brave face, even while navigating challenges most teenagers never have to think about. As her parent, I am deeply proud of her strength and character. But Kinsley shouldn’t have to face this fight alone. That’s why I am committed to advocating not only for her but for every family living with this devastating and unnecessary disease. Families like ours need funding for research, inclusive clinical trials, and awareness at the highest levels of government. Our children deserve better than a future defined by uncertainty.

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No one should face FSHD alone, and that includes the dedicated parents who know, all too well, the struggles of raising a child with a rare disease.

The Parents’ Roundtable Chapter is led by parents who know all too well the challenges of parenting a child with FSH Muscular Dystrophy. This group was formed by parents, for parents and families, to offer support, compassion, and guidance. Our aim is to connect families, deepen community, and support FSHD families wherever they may be.

To contact us directly, please email: Parents@FSHDSociety.org

To ensure you never miss important information about early-onset FSHD or the work of the Parents’ Roundtable, click the button below to join.

Join the Parents’ Roundtable

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World FSHD Day is celebrated every year on June 20th to raise awareness for facioscapulohumeral muscular dystrophy and unite our community. This year we are honoring the day by sharing the stories of those living with FSHD.

To hear more stories and perspectives, log into social media and search these hashtags and, if you feel inspired, share your story too.

#WorldFSHDDay #VoicesofFSHD #FacesofFSHD #FSHD #FSHDAwareness