Living with FSHD

FSHD – short for facioscapulohumeral dystrophy – is a progressive muscle wasting disease with a devastating effect on physical, emotional, and social wellbeing. Based on the most recent estimated prevalence of 12:100,000, FSHD is the second most common muscular dystrophy in the world affecting over 700,000 people across the globe. There is no effective therapy available.

FSHD derives its name from the most typical features of the disease, i.e. wasting of muscles in the face (facio), progressing to the shoulders (scapula) and the upper arms (humeral). However, the total impact of this disease stretches far beyond what the name suggests. Asymmetry of muscle weakening is a very common feature in FSHD. In general, early symptoms include difficulty whistling, smiling and closing the eyelids while sleeping. The weakening of the facial muscles is generally followed by scapular winging. This abnormal positioning of the shoulder bone impairs the movement of the shoulders and arms. Further weakening of the muscles is commonly observed in the upper arms, and may progress to the hip girdle and lower legs in severe cases. Less visible and therefore underestimated symptoms of FSHD are chronic pain and fatigue.

Disease progression and the age of onset of FSHD are highly variable.  However, in general, FSHD affects people in their teens. A small group of FSHD patients exhibit muscle weakness already at birth. FSHD progresses usually slowly, often stuttering with periods of rapid deterioration. Notably, one in five FSHD patients eventually becomes wheelchair dependent. Clearly, the physical consequences of FSHD limit the patient’s ability to live a normal life.

Besides the physical features of this disease, the diagnosis of FSHD comes with an emotional and social burden. After diagnosis, uncertainty controls the patient’s life, due to the high variability in disease progression. Frustration, guilt, shame and grief are emotional burdens frequently reported by FSHD patients. Being physically dependent on the help of others without being able to thank them with a smile, is just one illustration of the complex emotional aspect of the disease. Not being able to engage in activities and sports that once were a joyful part of life impacts the quality of life dramatically. At the social level, patients are at risk of becoming isolated. One does not suffer from FSHD alone. Family and friends, as well as the work environment, have to adapt.

Currently, no therapy is available that stops FSHD disease progression. At the moment, patients have to rely on treatment of pain and fatigue, involving the use of pain medication, cognitive therapy and physical exercise. Medical devices are sometimes used to maintain the patient’s mobility. Surgical treatment of the scapula may increase scapular function. These interventions remain at best symptomatic in nature and do not stop muscle wasting. Clearly, therefore, FSHD patients experience a large unmet medical need.

As a woman with FSHD once said: “It’s a rotten disease.”