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Amy’s Story

Facioscapulohumeral muscular dystrophy (FSHD), a rare genetic disorder that leads to the progressive and variable weakening of skeletal muscles, has been in Amy’s family for at least three generations on her father’s side. Growing up, it was frightening for Amy to watch her father’s body change as his symptoms progressively worsened, causing him to be wheelchair bound and unable to care for himself by age 40.

My dad had very severe FSHD, so I was aware of the condition fairly early in my life and was always on the lookout for symptoms. It was extremely difficult watching my father suffer from FSHD and I knew that I could one day experience the same challenges from this disease.

In her late twenties, Amy went to see a neurologist, who diagnosed her with FSHD by electromyogram (EMG). This was a devastating diagnosis for Amy, who believed she would follow her father’s health trajectory, and she had to quickly learn how to advocate for herself and manage her condition day to day.

When I’m meeting with any new doctor or specialist, I look at it like I’m interviewing them. I don’t expect them to be 100% aware of a rare disease, but I do expect that they are willing to listen and learn, and if they are open to that then I am willing to stick with them and help educate them.

Today, in her late 60s, Amy struggles to maintain her independence. Amy relies on the assistance of a home care aid to help with daily activities and has installed a stair lift, ramps and rails in her home to make it more accessible. As a once avid golfer and talented artist, Amy’s disease progression has caused her to give up these activities that had brought her so much joy.

You’ve got to be a warrior because FSHD is unrelenting. It’s a constant loss of ability. There are many times when I feel like Alice in Wonderland falling down the rabbit hole, and I don’t quite know where the bottom is—I haven’t landed.

Amy never knows where she will stand from one day to the next, which can be a constant struggle, both physically and emotionally. However, Amy works hard to remain positive and approach life with humor and gratitude. She gives back to the FSHD community, a group she now calls her family, as the director of the San Diego chapter of the FSHD Society and director of their national board.