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A Patient's Perspective of Their Rare Disease Is Important

Many doctors don't understand how or why their patients suffer.

Key points

  • Many doctors do not understand rare diseases, causing patients to feel invalidated and receive incorrect treatments.
  • Patients can come together to make sure their voices are heard, which is especially important in rare diseases.

According to leaders of the patient community, the 135-year-old definition of facioscapulohumeral muscular dystrophy (FSHD) is outdated and inadequately reflects the devastating nature of symptoms. The common “look” of an FSHD patient was characterized by protruding winged shoulder blades and a mouth that was partially or fully immobilized due to muscle loss (resembling that of a person who has had a stroke). The disease has been further characterized as moving down toward the lower half of the body, affecting muscles in the core and legs. Particularly notable is the impact that FSHD has on the feet, causing foot drop, and making it difficult for people to walk.

However, among current FSHD researchers (Johnson et al., 2012; Tawil, 2018) this disease can strike a myriad of skeletal muscles in the body, rendering an unpredictable presentation as well as an unpredictable disease trajectory. While the disease biology is generally understood, the rate of progression is heterogeneous and can vary throughout the course of the disease. In addition, most research on FSHD has related to the underlying genetic mechanisms and has left out the catastrophic nature of the disease.

Perspectives from the FSHD patient community

The current definition of FSHD does not adequately describe the extent of the disease progression and the devastating toll it takes on the body.

FSHD is typically associated with weakening and atrophy of muscles of the neck and shoulder blades and muscles at the front and back of the upper arms (biceps and triceps brachii muscles), slowly progressing down to the core, legs, ankles, and feet.

In patients’ real-world experience, FSHD is a much more aggressive and disabling disease than has been characterized on many trusted medical websites and in academic literature. While the primary focus in clinical definitions of FSHD focuses on the upper body, muscles can be affected globally—not just in the face, shoulder blades, and upper arms. Patients also experience progressive decline and loss of abdominals, gluteal muscles, hip abductors, quadriceps, hamstrings, soleus (calf), the tibialis anterior and ankle dorsiflexors. We must focus more on the impact in these areas to support optimal care.

Moreover, the core muscles of the abdomen and the muscles of the back, the paraspinal muscles, are often severely affected. This makes getting out of bed difficult and interferes with one’s posture, making it difficult to walk, increasing the risk of falls, and often causing significant upper and lower back pain.

Many patients also experience moderate to severe negative impact on breathing due to loss of diaphragm function. One of the most devastating and often underacknowledged results of FSHD is the need for breathing assistance, such as BiPAP and ventilators. Diaphragm weakness also places patients at increased risk for breathing difficulties during surgeries that require anesthesia.

The rate of progression is heterogeneous and can vary. This variability is important to consider in planning for treatment. Patients report both physical and emotional deterioration associated with progressive and unpredictable decline. As one patient, a nurse living with FSHD, said, “FSHD creates a consistent grieving process; when you finally adjust to current progressive changes, in a short time you progress further and create a new grieving cycle. Any hope is dashed.”

Patients also note that it is imperative to take steps to slow or halt any progression before patients experience a decline in skills and abilities. According to one patient, “Three years ago, I was flying to Iceland. Now I can barely get out for a walk.”

The complications of the disease are financially and emotionally devastating and lead to serious issues in daily living and poor quality of life.

While clinical definitions of FSHD do focus on the impact on mobility, these assessments often do not tell the whole story. Noting that 20 percent of patients need a wheelchair by age 50 does not make clear that many must be lifted by other people or by using expensive equipment including personal lift systems. These systems can be unreliable and difficult to operate and are often not covered by insurance.

In addition, statistics on the use of wheelchairs can make it sound like all other patients are doing fine. In fact, many are also severely disabled despite being ambulatory. Patients report being unable to stand or walk without assistance. Many who can walk still cannot stand from a chair, climb stairs, or walk without falling or without support from a walker or rollator. Many become housebound, with one patient reporting, “I was an outdoors person all my life. Now I never leave the house.”

The burden on caregivers can also be extremely challenging. Because of muscle decline, many patients cannot feed themselves or bathe on their own. Some cannot roll over in bed, which can lead to extraordinary pain and infection from pressure wounds. Problems with daily living can extend to basic hygiene when patients can be unable to lift their arms to wash, brush their teeth or comb their hair. For patients who do not have one or a team of caregivers, there is a risk of more rapid decline and a range of health and safety risks. One patient reported, “I’m a grown woman wearing a diaper; this is beyond what I ever thought my life would be.”

Because of the physical burden, patients often feel at risk or simply do not have the strength or will to leave their homes. “I can walk but I cannot step up into any car or van that is high. You would be surprised how many cars are hard to get into, and I can’t take the bus.” Another individual commented, “I want to visit my son, but I am terrified to take a train because of the space between the platform and the train; I’m scared I won’t make it, or I’ll fall.”

Clinical depression remains underreported as a comorbidity. Patients report that they live in fear, chronic pain, and social isolation while they battle a progressive and debilitating disease with no approved treatment options.

“The definition of mental health is the ability to adapt to life’s circumstances. There is no way to adapt to an unpredictably progressive disease like FSHD,” stated a sufferer. Feelings of poor self-worth and lack of hope are common. “I’m damaged goods. Who will want me?” said a 25-year-old.

Patients report living with anxiety about the future and feelings of being a burden to caregivers. “I thought my husband and I would be spending our latter years enjoying life. Now my husband must do so much for me. I am so grateful but sometimes I wonder what he is thinking.”

The inability to smile and move normally often leaves patients vulnerable to social misunderstanding by others. This further decreases self-esteem and contributes to social isolation.

Time is mobility: patients, family, and caregivers are desperate for access to any forms of treatment that could potentially stop disease progression in a race against time. For those living with FSHD and those who care for them, there is a constant focus on time. As it passes, patients decline. As an underserved and underrecognized community, many patients feel a loss of hope and debilitating despair. Patients need a treatment to halt or even slow progression.

A call to action

The full physical, emotional, and financial burdens of FSHD are vastly underreported and underappreciated. FSHD should be characterized as life-limiting, with periods of rapid progression and loss of muscle, strength, and independence. It is a disease that results in chronic pain, anxiety, and clinical depression. Current standards of care that work to address individual symptoms are not enough. It is imperative for healthcare providers, health insurance organizations, researchers, and regulatory authorities to act with more urgency to seek and support potential treatments.

Thank you to Michele Langer for her contribution, and to Dr. Peter Jones for reviewing for medical accuracy.