What People with Myotonic Dystrophy (and Their Families) Wish You Knew

Published by Angie Wiggans Posted on Apr 28, 2020

My husband, Paul suffers from a very serious form of muscular dystrophy called myotonic dystrophy type 1 (MD1). He started showing symptoms approximately five months after we were married.

Myotonic Dystrophy, Angie Wiggans, MD1, muscular dystrophy

Since then, his disease has progressed significantly and severely impacts our daily lives. Although MD1 is the most common form of adult-onset muscular dystrophy, it is still very rare, affecting only around 30, 000 people in the U.S. Here’s what people with myotonic dystrophy (and their families) wish you knew:

MD1 is a genetic neuromuscular disease. An affected person experiences muscle-wasting.
MD1 doesn’t just affect the muscles. It is multi-systemic. That means the heart, lungs, bowels-every single part of the body is affected to some degree.
Myotonia means the muscles when contracted, won’t relax. Sometimes when Paul shakes someone’s hand or grips a door handle, he can’t let go.
The disease is considered slow-progressing, but “slow-progressing” is a relative term. For example, Paul has extreme muscle weakness in his hands, arms, ankles, legs, face, and neck. A few months ago, he was washing his hair. Now, he cannot. He can’t shave his face, either. Every few months, we will experience a new loss.
The little tasks add up quickly. Paul can’t put on his socks, button his shirt, comb his hair, or pour himself a glass of orange juice. These seem like small things that wouldn’t matter much, but imagine having to ask (or being asked) constantly for help with every little thing you need or want.
Muscle wasting causes chronic, and sometimes severe, pain. Because his muscles cannot support his bones well, Paul suffers from severe and chronic pain, especially in his neck and back.

Although MD1 is the most common form of adult-onset muscular dystrophy, it is still very rare, affecting only around 30, 000 people in the U.S.

Breathing is difficult. Paul’s respiratory muscles are weak, so it’s hard for him to take a deep breath, rid his body of carbon dioxide, or cough to clear his airway.
Sleeping is a problem, too. Paul has sleep apnea, and sometimes he quits breathing at night. He has trouble tolerating the respirator though, so he doesn’t use it.
Gastrointestinal problems are nearly constant and severely impact the quality of life. Sometimes Paul is unable to leave the house. He can be miserable and unable to eat.
MD1 causes severe apathy and daytime sleepiness. Paul is always tired and needs frequent rests or naps. This severe fatigue, along with the marked weakness, means that working is impossible and basic household chores are extremely difficult.
MD1 causes cognitive impairment. This can look like confusion, problems with reasoning, ruminating, etc.
Therapy can help some, but not much. Paul sees physical, occupational and speech therapists. Therapy provides minimal support.
Patients see many doctors and specialists. Paul has regular appointments with two neurologists a cardiologist, a pulmonologist, a dermatologist, a urologist, a gastroenterologist, an ophthalmologist, and a primary care doctor.
Patients and families often know more about the disease than the doctors. The disease is not well-known and not well-researched. Many doctors are unfamiliar with it.
A correct diagnosis can take years. Paul’s first clear symptom was at age 26 when he suffered cardiac arrest (twice) . He now has a pacemaker/defibrillator. However, he wasn’t diagnosed for another five years.
Maintaining a social life can be difficult. Patients often feel ill, tired, or apathetic and cannot physically participate in many social activities. Additionally, the everyday burdens of living with severe chronic illness are stressful and exhausting, both physically and emotionally.
Patients and families have to think about and plan everywhere we go to determine accessibility. We sometimes feel frustrated and disappointed when we realize we won’t be able to attend ballgames, activities, or shows or eat at certain restaurants because of accessibility issues.
Patients often have severely limited mobility, even if they aren’t in a wheelchair (yet). Walking far and/or uphill is difficult or impossible. Paul wears orthotics in his shoes that strap around his calf muscles to help him with foot drop. Otherwise, he often falls. He can walk, but the process is slow and laborious.
Patients and families miss the activities they enjoyed in the past. Paul can’t go to a gym and lift weights, go for a walk or jog, throw a football or shoot a basketball, swing a golf club, or lift a bowling ball.

Myotonic Dystrophy, Angie Wiggans, MD1, muscular dystrophy

Caregivers often feel alone. Caregivers are responsible for juggling and managing an enormous workload. In addition to caring for their loved one, they often work a full-time job, manage household tasks, plan social activities, et cetera. Because they know nothing is going to change, this is a serious burden.
Sometimes it’s hard to open up and talk about how serious the illness really is. People are unfamiliar with the disease and don’t understand the severity or impact. They can make comments that, although well-intended, leave patients and families feeling invalidated.
The disease is progressive and incurable. Some treatments can help manage symptoms, although the treatments are not an option for everyone. There are no medications to slow the progression or cure the disease.
People with MD1 usually have a reduced lifespan. We know the statistics, but we are praying our story will be different.

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