Did she have double vision now, the young doctor asked? She glanced around the room. Not just then, but it would come back, she was sure of it. Other than the macular degeneration, the woman had only high blood pressure, for which she faithfully took a pill each day. She lived alone, and until all this happened, drove herself to all her appointments and volunteered at a local school for the disabled.
The young doctor held up a finger, instructing the woman to follow it with her eyes as he traced a large box in front of her face. Her eyes moved normally. He asked her to stick her arms out “like chicken wings,” and he pushed down on them repeatedly, testing her strength. She seemed a little weaker on the second or third time. She felt weak all over, she told him. Not as strong as she used to be.
Sanmartin thought that the patient probably had a stroke. Less likely, but possible, she could have a small mass or tumor. Myasthenia gravis (MG), an autoimmune disease that causes intermittent muscle weakness, was also possible but less likely at her age. She definitely needed an M.R.I. and also a scan called an M.R.A. to look at how the blood flowed through her brain. And she needed a swallowing study because she said she was choking on her food at home. Whatever made it hard to talk could make it hard to swallow too.
The M.R.A. was normal; so was the M.R.I. There was no stroke, no brain tumor. All the blood tests were completely normal. By Day 4 in the hospital, the plan was to send her home. She would need a follow-up appointment with her eye doctor because the lid was still droopy, and with an ear, nose and throat doctor because she complained of difficulty swallowing, even though she had passed a swallowing test just that morning. He wasn’t sure what she had but figured that they had ruled out the possibilities that might kill her.
That night at the hospital, though, she proved them wrong; she choked while eating dinner. She wasn’t going anywhere.
When Sanmartin presented the patient to Dr. Richard Nowak, the neurologist who took over the team as the attending physician, it still wasn’t clear what was wrong with her. But even before seeing the elderly woman, Nowak told the resident, he already had a diagnosis in mind — he did think she had myasthenia gravis. In this rare autoimmune disorder, the body’s defense system mistakenly attacks the connections between the nerve fibers and the muscles they command, causing the muscles to tire out quickly.
Sanmartin was surprised. He’d discussed this at length with the last attending neurologist, who was just as certain it wasn’t MG. That doctor argued that although myasthenia often causes weakness in the muscles of the eyes and mouth — not unlike what this woman had — that weakness usually comes and goes. But this woman’s symptoms were consistently present. Besides, the resident added, at 94, wasn’t she too old for that?
Age was not a factor, Nowak said. As the director of Yale’s myasthenia clinic, he recently diagnosed the disease in a 98-year-old man. And although men tend to get the disorder later than women — men were more likely to get it in their 60s and women in their 20s and 30s — age alone can’t be used to rule it out. In the meantime, the team should send off the blood tests for MG because it usually took a week or more for the results to come back.
A Tired Voice
Sanmartin watched the more experienced doctor examine the woman. Nowak couldn’t find any evidence of double vision. And the patient passed all the tests he did to try to tire out the muscles of the eyes and shoulders. Then Nowak asked the patient to count to 50 out loud. At 29, her voice changed. It got quieter and a little raspy. By the time she got to 50, it was barely a whisper, as the muscles she used to speak gave out. She probably did have MG, Nowak told his resident. Still, it wasn’t proof enough for him to treat her.
Each morning, when Nowak came to see her, her exam was the same — suggestive but not definitive. One day he wasn’t able to see the woman until late afternoon. She was alert and engaged as always, but her words were slurred and nearly inaudible. Muscle weakening late in the day is a classic symptom of MG. The test results hadn’t come back yet and probably wouldn’t for several more days, so Nowak decided to try a different test. He would start her on a low dose of Mestinon, the drug used to reduce the muscle weakening of MG. If she responded, the diagnosis would be confirmed.
Sanmartin had the day off when the patient started on the medicine. When he returned the next morning, he hurried to see her. She was awake and smiled as he walked in. She greeted him, and he immediately noticed the change in her voice. The nasal quality he heard before was gone. She spoke as if with a different voice. She could even drink water. Thin liquids like that are the most challenging to swallow.
When the test results finally came back positive for MG, no one was surprised. They started her on a second medication. The hope was that the dual approach of Mestinon for relief of the symptoms and the second drug to help protect her from her wayward immune system would prevent future attacks.
And it did — at least for a while. But a couple of months later, the woman had a life-threatening flare-up of her disease, an episode of weakness that left her incapable of breathing on her own. She was on a ventilator for nearly a week. And strangely, like her first episode of weakness, this terrible crisis came right after she got the injection to treat her macular degeneration. Was this some unusual reaction to a medicine she’d been taking for years? According to Nowak, no link between the medicine she took and MG has been reported. But she’s unwilling to take that risk — or the eye medication — again. And if her vision worsens, she told me with the cheerful determination of a survivor, she still has her other eye.