Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive loss of skeletal muscle, which causes profound weakness. The symptoms of FSHD often emerge first with a loss of facial muscle strength, making it difficult to smile. The atrophy typically progresses to the arms and torso and then the legs. The severity of symptoms varies widely.

Although the genetic cause of FSHD is well-understood, there are no approved treatments.

Several members of the FSHD community joined a video chat with our team to talk about daily life with a rare muscle disease. Please click below to watch the video of our conversation from the summer of 2020. For a more in-depth look at Howard Chabner’s experience with FSHD, scroll down.

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Living with loss, making adjustments: One man’s journey with FSHD

“I’ve had a lot of losses and I’ve made a lot of adjustments.”

Howard Chabner says this matter-of-factly. He has been living with the progressive muscle deterioration of facioscapulohumeral muscular dystrophy (FSHD) for more than 45 years, since he first began to find it hard to raise his arms above his head to take off a T-shirt in high school.

FSHD is a relentless disease. The rate of progression varies widely; it can come in bursts or in a slow, steady decline. But it is inevitable. Howard understood that when he was diagnosed in college and he has lived it ever since.

His muscle weakness started in his arms, but he soon had increasing difficulty walking, which gradually progressed to full-time use of a wheelchair. Over the decades, he has lost the strength to swim, to stand, to drive, to transfer himself out of his wheelchair, to open a letter, to remove his cherished vinyl records from their album covers to play them on his turntable.

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These losses have constrained his life, but they have not defined his life.

A Harvard-educated lawyer, Howard worked for years as a corporate and finance attorney, finding both success and satisfaction in his career. An aficionado of art and architecture, he has traveled widely with his wife, Michele, immersing himself in foreign cultures from Europe to Asia to the Middle East – and writing a series of articles about wheelchair accessible travel.

“I’m not embarrassed that I’ve lost the ability to do many things and have become dependent on others.  I know it isn’t my fault. I know that I’ve tried as hard as possible to keep doing each of these things for as long as I can. My family, friends and acquaintances know it,” Howard says.

“What’s difficult is the uncertainty about how rapidly my FSHD will progress, what I will lose in the future, and how I will adjust. It’s difficult to plan for. A particular workaround can do the job for a while, but at some point, it no longer does.”

As far as he knows, Howard is the only member of his family to have FSHD; it appears to have originated with a spontaneous genetic mutation. It’s thought that 10% to 30% of FSHD cases come from spontaneous mutations. There is no disease-modifying therapy available for FSHD at this time, and despite exercise, meditation, Alexander technique and other practices, nothing has been able to halt the progression of his disease.

These losses have constrained his life, but they have not defined his life.

Howard is candid about the toll FSHD has taken on him. As walking became more and more difficult, he says, he was in denial about his weakening leg muscles, afraid to use a wheelchair even for short stretches because it felt like a concession that he might never walk again.

“Up to a point, some denial is healthy,” he says. “Denial can enable us to push ourselves, persevere, keep fighting, refuse to give up, remain optimistic. We find strength we didn’t know we had.” But at some point, he says, his denial became counterproductive – even dangerous, as it exposed him to a very real risk of injury.

On a spring day some 30 years ago, Michele suggested that Howard use a wheelchair, which had been loaned to him and remained unused in the basement for many months, for a visit to San Francisco Museum of Modern Art. “Both of us immediately felt a sense of relief,” he said. He could focus on the art in a way he hadn’t for years; she could wander the galleries at her own pace without worrying that he might stumble. He still walked when he could, for as long as he could, but from that point on, he never hesitated to use a wheelchair when he needed it.

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Now in his early 60s, Howard has grown accustomed to relying on a long list of medical devices, starting with his wheelchair and custom seat cushions. He has forged close friendships with some of his caregivers – that’s one of the unexpected silver linings of his disability, he says – and counts on them, Michele, and an outstanding team of medical professionals to help him adapt to each stage of FSHD. His support network includes the FSHD Society, through which he has met not only fellow patients, but also scientists working on investigational treatments that aim to preserve muscle and prevent progression of the disease.

Howard is a disability rights and disability access advocate, having chaired a San Francisco city government access committee that advises the city on ensuring that government buildings, transportation, parks and infrastructure are accessible to all, and having served on several other city committees. He’s participated in access projects by San Francisco International Airport, Context Travel, and Airbnb, advised hotels and restaurants on improving access, and has been involved in many advocacy campaigns. He’s also a docent at San Francisco’s beautiful Beaux-Arts City Hall.

Asked what he would most like from a therapy, Howard says first and foremost, he would want to stop his muscles from weakening any further. If a therapy could regenerate lost muscle, he says, that would be a dream.

“If I could simply transfer from my wheelchair again without assistance, that would be phenomenal,” he says. “Being able to walk again would be like landing on Mars.”

About Facioscapulohumeral Muscular Dystrophy (FSHD)