It appeared to be a bad case of stage fright: Nancy Law was speaking at a conference about 20 years ago when suddenly the words wouldn’t come out. “I would begin to say a sentence, and before I would get to the end of the sentence, my voice was gone,” recalls Law, who lives in Parker, Colorado.
But Law knew it wasn’t nerves. What it was, though, wasn’t so clear. Her primary care doctor called it a sinus infection, but soon she was having trouble smiling and swallowing, too. A neurologist tested her for myasthenia gravis, which was indeed what ailed her.
“I may be one of the few who said, ‘Oh really? That sounds great because I was thinking I might have ALS,” or Lou Gehrig’s disease, says Law, now 66, who knew about myasthenia gravis through her background as a social worker and work with the National Multiple Sclerosis Society since MG and MS share some features.
Most people who are diagnosed with myasthenia gravis, however, have never heard of it, says Dr. Gil Wolfe, chair of the department of neurology at the University at Buffalo School of Medicine and Biomedical Sciences. In fact, Law says, “You go to the ER and say you have myasthenia gravis and they say, ‘Can you spell that?'”
[See: 5 Rare Diseases You’ve Never Heard of (Until Now).]
But it’s worth getting to know: Though the condition is technically rare — estimated to affect one in 5,000 people — it’s common among the ranks of rare diseases and may affect more, since it’s probably underdiagnosed, according to the Myasthenia Gravis Foundation of America. Among neurologists, it’s also relatively well-understood, recognized and treated, Wolfe says. “In general, people with MG do very well,” he says. “They can hold jobs, they can exercise, they can be active in their family lives.”
What is MG?
Myasthenia gravis is a chronic autoimmune neuromuscular disease meaning “grave muscular weakness,” since people with it often have trouble operating muscles they should be able to control, like those that help them smile, keep their eyes open, chew and even walk. Many patients experience double vision, too, since their eye muscles can be weak. “Some days, it’s hard for me to dry my hair,” says Law, now the chief executive of MGFA. “It can make it hard for people to walk a distance.”
Most seriously, it can make it hard or even impossible to breathe or swallow, making it fatal in a few percent of patients, though it used to be as many as 30 percent, Law says. “If you can’t swallow your own saliva and you can’t get your diaphragm to work, you simply stop breathing,” she says. “And that’s where people have what we call a crisis.”
While the condition’s exact cause is unknown (it doesn’t appear to be genetic or brought on by a particular environmental trigger, for example), science knows why it affects the muscles the way it does: The brain’s message “move” sometimes doesn’t get effectively delivered to the muscle since the immune systems of people with MG errantly attack the connections where nerves meet muscles. “It’s not unlike a phone connection that is messed up with static,” says Sally O’Meara, a special lecturer of nursing at Oakland University in Rochester, Michigan, who has myasthenia gravis.
O’Meara’s path to diagnosis was far more drawn out than Law’s, as it is for too many patients, she says. About eight years ago at age 42, she began feeling unsteady on her feet. Soon, she was using a cane and then a walker when necessary. Doctors thought she might have neuropathy, multiple sclerosis, muscular dystrophy or ALS. Some even dismissed it as anxiety, stress or lack of fitness. “You know what you need? You need to go to the gym,” O’Meara recalls one clinician saying.
[See: 10 Lessons From Empowered Patients.]
Instead, O’Meara went to the medical resources she had access to as a nurse and diagnosed herself with MG. In total, it took four years before one of many doctors confirmed it. “It is easy for doctors to dismiss patients as anxious, stressed or hormonal rather than to really figure out the true underlying disease process,” says O’Meara, who’s become an advocate for people with the condition through MGFA.
Living with MG
If and when patients are properly diagnosed, they can be treated, but not cured. “The main goal of treatment is to prevent muscle weakness” in order to prevent a respiratory failure — aka a crisis, Wolfe says.
Most people with MG take steroids, other somewhat similar drugs that suppress the immune system or both. While many medications used in MG treatment are prescribed off-label, one sold as Soliris was recently approved and other trials are underway. Such advances are encouraging since the risks of complications from immunosuppressants’ side effects match those from the disease itself these days, Wolfe says. Fortunately, after a few years on the more powerful drugs, patients can typically dial back their dosages to reap the most benefit with the fewest side effects. “We’ve learned a lot about how to minimize the side effects of these medications,” Wolfe says.
Some patients undergo infusions of antibodies or plasmapheresis treatments, while others including Law undergo surgery to remove the thymus gland, which may be responsible for the antibodies that attack the nerve and muscle connections.
Other treatments are focused around symptoms — patients with eye muscle weakness may use certain devices to help prevent double vision, while those whose respiratory systems are affected may use a BiPAP machine, or a device that helps people with sleep apnea breathe at night without putting more pressure on their respiratory muscles.
“MG weakness gets worse when the muscles are used, similar to how electronics quickly run out of power when cheap-o batteries are used,” O’Meara says. “This means that people may feel OK in the morning but not be able to get out of bed in the afternoon.”
Lifestyle modifications can help, too. Most practically, people who have trouble chewing and swallowing may need a diet of mostly softer foods. While sustained exercise can be exhausting, if not impossible, for people with MG, short bouts of low-intensity exercise can help them reap the benefits of physical activity. Many patients learn to dial back their social, work and family obligations, too, lest their fatigue become debilitating. “I have to do a little at a time,” Law says, “but the things you enjoy doing that keep you active are probably the most helpful.”
Ultimately, when it comes to living with MG, the best defense is good offense, finds O’Meara, who’s crafted documents for patients to keep on hand to share with their health care teams. Without that type of armor or a loved one to advocate for them, patients risk winding up in the emergency room unable to speak or breathe — and being cared for by a team that doesn’t realize, for instance, that a standard respiratory test won’t detect MG since their muscles work fine but their messaging systems don’t.
[See: How to Be a Good Patient Wingman.]
But by learning how to speak the MG language, educating family and friends about your condition and staying prepared to handle a crisis, life with MG can go on. “You do what you need to do to have as much quality of life as you can,” Law says.
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What Is Myasthenia Gravis? originally appeared on usnews.com
