Liisa Ecola lay on the sofa in the living room of her Capitol Hill home counting the hours until she could see a specialist who, she fervently hoped, would tell her why she could no longer keep her eyes open.
For several months, the 42-year-old transportation policy researcher for Rand had been squinting, even in the dark. Her puzzled optometrist had suggested she consult a neuro-ophthalmologist, a doctor who specializes in diseases of the eye originating in the central nervous system. Ecola had waited weeks to get an appointment, which was scheduled for Dec. 15, 2010. But the day before, Ecola recalled, “I opened my laptop and my eyes snapped shut.” To her horror, she discovered that her eyes would stay open only for a few minutes at a time.
Panicked, she called the specialist to confirm the appointment, only to discover that she wouldn’t be seeing him at all. The office had no record of her.
“I was really scared,” said Ecola, who called it the lowest moment in her quest for a diagnosis. “I was convinced I had a brain tumor.” Her problem turned out to be far less serious and far more easily treated. The following day she lucked into an appointment with another specialist, who explained the odd constellation of symptoms that had left her unable to leave her house.
For several years, Ecola had suffered an unexplained, intermittent facial tic, in which she scrunched up her face as if she were tasting something awful. Because it seemed linked to stress, Ecola consulted a behavioral therapist in an effort to banish it through habit reversal training — using relaxation exercises and making a conscious effort to stop the tic. Until early 2010, the treatment usually worked, and Ecola seemed able to control it.
That summer, as the tic worsened, she also noticed a frequent unusual tightness in her face, as though “a string was tied in a circle through my eyebrows, cheeks and jaw, and someone was gently pulling it.” By the end of the day, her face ached.
A few months later, she got a huge new computer monitor at work and noticed she was squinting when she looked at it. Her eyes seemed more light-sensitive than usual. “I figured it was just so shiny, but then I noticed I was squinting at night,” Ecola recalled.
But it was her nearly nonstop yawning that attracted the most attention. Although she wasn’t tired, Ecola yawned as often as 200 times per day. She yawned through meetings at work and at dinner with her husband. Friends and co-workers, and sometimes perfect strangers, asked her whether she was getting enough sleep; she assured them she was. Ecola was particularly mortified when a candidate for a high-level job apologized for boring her.
She decided to see whether acupuncture might reduce the squinting or yawning while she waited to see the neuro-opthalmologist recommended by her optometrist.
After six failed treatments, the acupuncturist suggested she keep a log and notice if something seemed to trigger the yawning or squinting. A few weeks later, after having trouble keeping her eyes open during a meeting, Ecola dropped by a friend’s office at work and discovered that the squinting diminished dramatically once she began talking. Worried that she would look crazy if she talked to herself, she began walking to the Metro with her cellphone clapped to her ear, chattering away even if no one was on the other end. When she got tired of the phone, she sang Christmas carols, since it was November.
But after several weeks, Ecola noticed, her coping strategies were becoming less successful. She was leaving work early — a full day in the office was too exhausting.
Ecola said she felt certain that the neuro-ophthalmologist would diagnose the problem but terrified that he would tell her that something was seriously wrong with her brain. She said she never thought about going to an emergency room, and didn’t call her primary-care doctor because it generally took a long time to get an appointment.
Crushed and upset when told told there was no record of her appointment, Ecola explained her plight to the receptionist and begged for help. After conferring with the doctor, Ecola was told she should call a neurologist specializing in movement disorders.
She hung up and called the neurology department at George Washington University School of Medicine, where she caught a break: A patient had canceled, and there was an opening the next day.
That’s when she met Ted Rothstein, an associate professor of neurology at GW who heads the movement disorders program.
Within minutes he told her what was wrong: Ecola had benign essential blepharospasm, a neurological disorder characterized by abnormal involuntary eyelid spasms and uncontrolled blinking. When accompanied by yawning or facial movements, the condition is called Meige’s syndrome, also known as craniofacial dystonia. Regardless of the diagnosis, treatment remains the same.
“It’s pretty obvious if a patient comes in blinking and grimacing and yawning,” Rothstein said, although other causes must be ruled out first.
The disorder affects about one in 20,000 people — women twice as often as men. It results from the abnormal functioning of the basal ganglion, the part of the brain responsible for control of muscles, although the cause of the malfunction is not known.
Most people who develop blepharospasm do so suddenly, according to the National Eye Institute, but in others, Ecola included, it occurs more gradually. And, as Ecola discovered, talking — or, for others, concentrating on a specific task — can temporarily reduce the severity of symptoms.
The first depiction of the condition dates back to the 16th century, when the Flemish artist Pieter Bruegel painted “De Gaper,” a portrait that captures the telltale facial tic. For centuries, sufferers were regarded as insane and often institutionalized. That view prevailed until the early 20th century, when doctors recognized the problem as being neurological, not psychological. (Scottish novelist Candia McWilliam, describes her ordeal with blepharospasm in a new book, “What to Look For in Winter: A Memoir in Blindness.”)
Rothstein said that blepharospasm can sometimes be misdiagnosed as blepharitis, an inflammation of the eyelid that can cause swelling, or as spasms caused by irritation of the facial nerve. In other cases it is mistaken for tardive dyskinesia, a disabling and sometimes permanent condition characterized by facial tics, which can develop after taking antipsychotic drugs. Because Ecola had never taken such medicines, the diagnosis was not complicated.
“She was really very stressed out about this,” Rothstein recalled, saying he assured her that “this is a condition we can very effectively treat.”
Rothstein prescribed Artane, a drug used to treat Parkinson’s disease, and referred her to another specialist for Botox injections around her eyes to temporarily paralyze the muscles, reducing blinking.
During the month it took for the Botox treatments to begin, Ecola said, she stayed home, wondering if she would ever see normally again. Although the oral drug helped, it did not alleviate all her symptoms: She could not keep her eyes open when she ate, and the yawning continued unabated.
The injections made a huge difference, she said, although she says the 14 painful shots she receives around her eyes every three months “feel like 14 flu shots.”
Controlling the yawning proved to be most problematic. After consulting five neurologists, who had no explanation for why she was still yawning incessantly, Ecola returned to the behavioral therapist for habit reversal sessions and deep-breathing exercises. At the suggestion of her chiropractor, she began taking a magnesium supplement, which is supposed to aid muscle function. Although it’s not clear whether any of these treatments worked, within weeks the daily yawns dropped from hundreds to a dozen or so, Ecola said.
Living with her condition has meant making adjustments: Ecola can no longer regularly wear contact lenses, is self-conscious that her face looks slightly crooked and contends with dry mouth from the medication. She knows there is a chance that her condition could worsen as she gets older, but she is hoping for the best. If not, surgery to remove some of the nerves and muscles of the eyelids might be an option.
“I feel fortunate that I was able to get a diagnosis so quickly,” she said, adding that in the support group she joined, she has heard stories of patients who spent years seeking a correct diagnosis and underwent operations for conditions they did not have. “I’m probably as normal as I’ll ever be, which is not quite where I was before. But there’s really very little I can’t do now.”
Have a medical mystery that’s been solved? E-mail firstname.lastname@example.org