Help for Myasthenia Gravis Sufferers

Rosanne Dunn, 26, had her first child two years ago, and she found herself so weak that she “couldn’t even hold my head up. It just rolled from side to side. My arms were so weak, I couldn’t lift up my baby. It was so hard. I wanted desperately to hold him and I couldn’t.”

Dunn at first hoped that the problems were related to her difficult, 15-hour labor. She didn’t mention her muscle weakness to her doctors because she was afraid they wouldn’t allow her to keep her baby in her room.

But after Dunn was discharged from the hospital, it became clear that something was very wrong. Her strength had diminished even further, and she was extremely morose.

“My husband thought it was just post-partum depression, but my sister made me go to the doctor,” Dunn said.

Dunn’s doctor referred her to a neurologist who, after an examination and tests, made a diagnosis of myasthenia gravis, a rare chronic muscle disease in which nerve impulses are not properly transmitted to the muscles.

“At first it was really a relief knowing what was wrong. . . . Then I read about the disease and I was scared silly,” she said.

Dunn’s fears were not unfounded. While myasthenia gravis is seldom fatal, the autoimmune disease causes severe muscle weakness and fatigue.

At best, patients with myasthenia gravis must change their life styles, often drastically, to allow for greater periods of rest. For some people the disease is completely debilitating, and, if the muscles that control swallowing or breathing become involved, it can be life threatening.

In healthy people, nerves transmit impulses to muscles through the chemical acetylcholine at sites on the muscle called acetylcholine receptors. Myasthenia gravis patients have fewer of these sites at which the chemical can be transmitted, and therefore don’t receive the nerves’ communication well.

Researchers suspect that myasthenia patients’ immune systems for some reason attack and destroy the acetylcholine receptors.

For Dunn, the first symtom appeared when she was 14 and started seeing double. In the years that followed, she consulted a lot of doctors about the problem. Some gave her glasses; some said the problem was in her mind.

Dunn had some other medical troubles during those years, but like her vision, the problems were all things no doctor ever quite diagnosed prior to the birth of her baby. She was often tired, and needed much more sleep than her friends. She missed a lot of school because she was unable to muster the strength to attend.

‘So Embarrassing’

And there was the falling down. “I used to fall flat on my face,” she said recently. “It would be so embarrassing. I’d be running, say, for physical education class, and all of a sudden, plop. I’d be flat on the ground.”

None of her symptoms except the vision was easy to pinpoint. Some days she’d feel fine; on others she would have problems. “I used to diet a lot,” she said. “I’d just attribute my occasional weakness to that.”

As in Dunn’s case, the first symptom of the disease is often weakness of the eye muscles. Sometimes vision becomes blurred; other times the eye droops. As other muscles become involved, patients sometimes have trouble walking or speaking. The symptoms often disappear completely for periods of time and then return.

“Myasthenia gravis is often misdiagnosed,” said Dr. John Keesey, a Long Beach neurologist who chairs the medical advisory committee for the California chapter of the Myasthenia Gravis Foundation. “The symptoms are often intermittent, and many of the symptoms are more often associated with depression or other emotional problems.”

Many myasthenia gravis patients complain they were treated for psychological ailments for long periods before anyone correctly diagnosed the disease as being physical instead of mental.

Burning Candle at Both Ends

Lois Grond was working nights as a nursing attendant at Rancho Los Amigos Hospital in Downey when she first started feeling strange. “It started with my leg. I would feel like my leg was so weak I couldn’t lift it. I just had to drag it along,” she said. Other times her entire body would become weak. “I felt just like a balloon deflating,” she said.

For two years she continued working. She also saw numerous doctors, none of whom came up with a correct diagnosis. The consensus was that she was having a stress reaction from working too hard, she said.

“I was sort of burning the candle at both ends. I would work all night and then take care of my husband, who was very ill, all day. But I knew there was more to my problem. I knew I was sick.”

Others didn’t agree. “Although my family was very supportive, a lot of people I knew said I was just using my weakness as an excuse for getting out of things I didn’t want to do.”

By 1979, things had gotten so bad that Grond had to quit work and go on disability. Still there was no diagnosis.

“Finally a doctor told me it was all in my mind and that I should see a shrink. The doctor said, ‘I think your problem is that your husband has been getting so much attention for being sick that you decided you wanted to get a little too,’ ” Grond said.

Got Answers in 1981

It wasn’t until 1981 that Grond got answers. That year, a new doctor decided to send her to the Jerry Lewis Neuromuscular Research Center at UCLA, which is funded by the Muscular Dystrophy Assn.

The clinic, and several others in Southern California, was set up to diagnose, treat, and do research into a variety of neuromuscular diseases including myasthenia gravis. Patients with any of the diseases treated there can qualify for free care by doctors familiar with their illnesses.

At the clinic, Grond was seen by Keesey, who after a number of tests diagnosed her as having myasthenia gravis. “It was such a relief. Finally I knew what was wrong. Finally I could do something,” she said.

There are no exact figures on how often myasthenia gravis occurs. The Myasthenia Gravis Foundation estimates that there are about 100,000 cases in the United States. In Los Angeles County, the Muscular Dystrophy Assn. currently has 103 myasthenia gravis patients on its rolls.

A perfect treatment for the disease has not yet been developed, although some breakthroughs have been made in the last decade. Myasthenia gravis is often treated with anticholinesterase drugs, which improve muscle function.

“The problem with the medication is that it usually works well only for a time,” Keesey said. “And it never completely clears up symptoms.”

For some patients, surgical removal of the thymus gland has proven effective. Researchers are not sure exactly why thymectomies are effective, but they suspect that the thymus may produce, or cause to be produced elsewhere, substances that interfere with neuromuscular transmission.

Significant Improvement

“We now tend to say cautiously that 50% of myasthenia gravis patients are significantly improved by thymectomies. Some go into remission, usually within a year of surgery,” Keesey said.

Except in cases of complete remission, however, treatment rarely provides everything a patient hopes for.

Juan Vigil, 68, of Woodland Hills, was 59 years old when he was diagnosed as having myasthenia gravis. For almost 15 years he had been having symptoms--eye problems, muscle weakness and fatigue--but he refused to let it get him down. He continued working 16-hour days as a construction engineer.

He also saw doctors--lots of doctors--but he, too, was misdiagnosed. He was told he had psychological problems, so he saw a psychologist. He also saw ophthalmologists and a variety of other doctors.

In 1976, he came down with severe stomach problems and was hospitalized for a week. In the hospital, he was unable to eat because swallowing had become so difficult, he recalled, and he could hardly talk because his mouth muscles were functioning so poorly.

Finally a doctor who recognized the symptoms gave Vigil a Tensilon test in which an anticholinesterase is injected directly into a vein. The results were immediate. Vigil’s half-shut eyes opened wide. He regained muscle strength. Although the drug’s effects wore off in 10 minutes, the doctor was certain. Vigil had myasthenia gravis.

Eventually, Vigil had a thymectomy. While removing Vigil’s thymus, doctors found a cancerous tumor of the thymus.

Remission Retrogresses

“The thymectomy did me a great amount of good at first. Then my remission started to retrogress, and I wound up quite weak,” Vigil said.

After his regression, Vigil learned what all myasthenia gravis patients eventually have to face: having the disease requires major life-style changes.

“Different people bring different personalities into the disease. Some people keep trying to do everything; others just sort of give up. But they have to be sensible. They can’t burn the candle at both ends,” Keesey said.