All Signs Pointed to a Stroke o' Luck. Then the Tests Come Back Negative.
“Mon?” the middle-aged woman asked. He recognized the voice, but the words were muffled and strange. I’ll be right over, she said into the phone. The 15-minute drive from his small Rhode Island town to her father’s seemed to last forever. Had he had a stroke? He was not yet 94, and though he’d always been healthy, at his age, anything could happen.
She burst into her tidy brick home to find him sitting in the living room, waiting. His eyes were bright but scared, and his voice was just a whisper. She helped him to his car, then raced to the community hospital a couple of towns over.
The doctors in the emergency room were also worried about a stroke. His left eyelid hung lower across his eye than his right. He was seeing double, he told them. And the left side of his mouth and tongue felt strangely heavy, making it hard to speak. Initial blood tests came back normal; so did the CT scan of his brain. It wasn’t clear what was wrong with the patient, so he was transferred to nearby Yale New Haven Hospital.
Not Looking Your Age
Dr. Paul Sanmartin, a resident in the second year of his neurology training, met the patient early the next morning. He’d already heard about him from the overnight resident: a spry not yet 94-year-old man with the sudden onset of a droopy eyelid, double vision and difficulty speaking, probably due to a stroke. As he entered the room, he realized he wasn’t sure what 94 was supposed to look like, but this man looked much younger. He did have a droopy left lid, but his eyes moved in what looked to him to be perfect alignment, and his speech, though quiet, was clear. The patient’s story was also different from what he expected. He had macular degeneration and had been getting shots in his left eye for more than a decade. His last injection was nearly two weeks earlier, and he’d had double vision and the droopy eyelid on and off ever since.
I too have monthly shots in my left eye it would be interesting to know the name of the medication since I know of at least three.....
Did he have double vision now, the young doctor asked? He glanced around the room. Not just then, but it would come back, he was sure of it. Other than the macular degeneration, the man had only high blood pressure, for which he faithfully took a pill each day. He lived alone, and until all this happened, drove himself to all his appointments and volunteered at a local school for the disabled.
Unrevealing Tests
The young doctor held up a finger, instructing the man to follow it with her eyes as he traced a large box in front of his face. His eyes moved normally. He asked her to stick his arms out “like chicken wings,” and he pushed down on them repeatedly, testing his strength. He seemed a little weaker on the second or third time. He felt weak all over, he told him. Not as strong as he used to be.
Sanmartin thought that the patient probably had a stroke. Less likely, but possible, he 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 his age. He definitely needed an M.R.I. and also a scan called an M.R.A. to look at how the blood flowed through his brain. And he needed a swallowing study because he said he was choking on his 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 him home. He would need a follow-up appointment with his eye doctor because the lid was still droopy, and with an ear, nose and throat doctor because he complained of difficulty swallowing, even though he had passed a swallowing test just that morning. He wasn’t sure what he had but figured that they had ruled out the possibilities that might kill him.
That night at the hospital, though, he proved them wrong; he choked while eating dinner. He wasn’t going anywhere.
Circling Back
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 him. But even before seeing the elderly man, Nowak told the resident, he already had a diagnosis in mind — he did think he 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 man had — that weakness usually comes and goes. But this man’s symptoms were consistently present. Besides, the resident added, at not quite 94, wasn’t he 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 woman. 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 man. 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, his voice changed. It got quieter and a little raspy. By the time he got to 50, it was barely a whisper, as the muscles he used to speak gave out. He probably did have MG, Nowak told his resident. Still, it wasn’t proof enough for him to treat the man.
Each morning, when Nowak came to see him, the exam was the same — suggestive but not definitive. One day he wasn’t able to see the man until late afternoon. He was alert and engaged as always, but his 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 him on a low dose of Mestinon, the drug used to reduce the muscle weakening of MG. If he responded, the diagnosis would be confirmed.
Successful Treatment
Sanmartin had the day off when the patient started on the medicine. When he returned the next morning, he hurried to see him. He was awake and smiled as he walked in. He greeted him, and he immediately noticed the change in his voice. The nasal quality he heard before was gone. He spoke as if with a different voice. He 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 him 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 him from his wayward immune system would prevent future attacks.
And it did — at least for a while. But a couple of months later, the man had a life-threatening flare-up of his disease, an episode of weakness that left him incapable of breathing on his own. He was on a ventilator for nearly a week. And strangely, like his first episode of weakness, this terrible crisis came right after he got the injection to treat his macular degeneration. Was this some unusual reaction to a medicine he’d been taking for years? According to Nowak, no link between the medicine he took and MG has been reported. But he’s unwilling to take that risk — or the eye medication — again. And if his vision worsens, he told me with the cheerful determination of a survivor, he still has her other eye.
Lisa Sanders, M.D., is a contributing writer for the NY Times magazine and the author of “Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis.” If you have a solved case to share with Dr. Sanders, write her at L.SandersMD@gmail.com.
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