A novelist’s labored speech signaled an unimaginable diagnosis
Sandra G. Boodman
July 10, 2021
At first, novelist Cai Emmons thought something might be wrong with her bite.
In December 2019, while reading from her latest work at a gathering in Sausalito, Calif., Emmons was keenly aware that her voice and speech pattern seemed different than usual. “There was a slight lack of flow and my rhythm was off,” she recalled. No one else seemed to notice anything amiss.
But to Emmons, who lives in Eugene, Ore., the problem was glaring. A self-described “big talker” who had taught creative writing at the University of Oregon, Emmons often gave readings, was deeply involved in the local theater community and had been a college actress. She was determined to find out what was wrong with her voice and do her best to fix it.
And so began a roller-coaster process, complicated by the pandemic, that consumed the next 14 months of her life, concluding with a finding that was both familiar and unimaginable.
“I don’t think anyone wants to make the diagnosis,” Emmons said recently, adding that she regrets not knowing the truth sooner.
“Had I known earlier, I wouldn’t have had to go through all that testing and all those doctor visits,” she said. Equally important, a speedier diagnosis would have enabled her to “bank” her voice to create a synthetic one for future use.
Shifting teeth
In the weeks after the reading, Emmons, then 69, said she became “obsessed with her teeth.” They appeared to have shifted — typical in adulthood — and Emmons worried she had developed a bit of a lisp. She also noticed that the episodic hoarseness she had experienced for a few years seemed to be worsening. She visited her dentist, who found nothing wrong with her bite.
On the advice of a friend, Emmons decided to order invisible aligners, an alternative to traditional metal braces.
“It was pretty expensive but I really wanted to fix this problem,” she said.
She soon discovered that they made her speech sound garbled. After wearing them for several weeks, Emmons stuck them in a drawer.
In May 2020, she had a telehealth appointment with her primary care doctor. He referred her to an ear, nose and throat specialist whom she couldn’t see until July.
In the interim, a friend suggested she call one of his relatives in Ohio who is a physician. The doctor listened to Emmons’s description of her symptoms and told her he suspected she had myasthenia gravis, a rare neuromuscular condition that causes muscle weakness. Speech problems can be a symptom of the disease.
“I kind of bought into his diagnosis,” she said.
The Ohio doctor recommended that she start taking pyridostigmine, a drug used to reduce myasthenia-related muscle weakness.
But it wasn’t clear she actually had the disease: A blood test commonly used to diagnose it was normal.
In July an otolaryngologist examined Emmons’s vocal cords. After he found nothing unusual, he sent her to a Eugene-area neurologist.
A month later, Emmons saw the neurologist, who prescribed a trial of pyridostigmine and ordered additional tests. Among them was electromyography, which involves the insertion of small needles into muscles, including those in Emmons’s tongue, to measure electrical activity and the response to nerve stimulation. The doctor wrote that she wanted to distinguish between myasthenia and “another process causing . . . symptoms, like for example motor neuron disorders.” The best-known of these is amyotrophic lateral sclerosis (ALS), a rare, progressive neurological disease that affects nerve cells in the brain and spinal cord that control movement.
“She definitely said I did not have ALS,” Emmons recalled.
She felt a surge of relief tempered with skepticism. Her former mother-in-law had died of ALS in 1988, and Emmons knew there is no definitive test for the fatal disease.
“When my mother-in-law died, I thought, ‘Well, I don’t have to worry about ALS because, like lightning, it won’t strike twice,’ ” Emmons remembered.
Disordered speech
After essentially ruling out ALS and myasthenia gravis the neurologist, who noted that Emmons was having trouble swallowing, ordered a CT scan of her neck, as well as an MRI of her brain and cervical spine to check for a stroke, tumor or a lesion suggestive of multiple sclerosis. When all were normal, she sent Emmons to a specialized otolaryngologist in Portland, 90 miles north of Eugene.
By then, Emmons said, her focus had shifted to a new possibility: laryngeal or spasmodic dysphonia, a voice disorder caused by involuntary spasms in the larynx that produce a strained or strangled-sounding voice. Emmons’s college roommate, a gynecologist, told her she “sounded just like several of her patients and kept sending me links to it,” the novelist recalled.
But after listening to broadcaster Diane Rehm, who has talked about her nearly career- ending battle with the disorder, Emmons said she became convinced this wasn’t her problem. She was having increasing difficulty forming words, which is not characteristic of spasmodic dysphonia.
Her deteriorating voice made Emmons feel uncharacteristically self-conscious. She shied away from readings, public speaking or interviews, fearing that her labored, stilted-sounding speech might make listeners question her intelligence.
In January 2021, Emmons, accompanied by her partner of 20 years, playwright Paul Calandrino, saw a laryngeal specialist at Oregon Health & Science University, the state’s only academic medical center.
He immediately ruled out spasmodic dysphonia and asked Emmons whether she had experienced inappropriate laughing or crying jags.
“I hadn’t ID’d this as something strange until he asked me,” Emmons recalled. “I asked him, ‘Why do you ask?’ and he replied that he thought I might have a pseudobulbar palsy.”
Pseudobulbar disorders affect the ability to control facial muscles and have a variety of causes, including stroke. The ENT did not elaborate and told Emmons he was sending her to a colleague who is a neurologist.
“I think he knew what was wrong, but didn’t feel that he was in a position to diagnose it,” she said. “And he knew I didn’t know. He was very attentive and made sure I had good follow-up appointments.”
‘It broke my heart’
About 10 days before the meeting with the Portland neurologist, Emmons kept an appointment she had made earlier with a second neurologist in Eugene. The doctor ordered testing so extensive it required 15 vials of blood. Several days later, Emmons learned that nothing had been found; the doctor could not explain her worsening symptoms.
That changed when Emmons saw Nizar Chahin and the young doctor working with him.
The junior doctor examined Emmons first. Chahin then joined them, repeating parts of the physical exam. He asked Emmons if he could inspect the tops of her legs, then stared intently at her thighs for what seemed like five minutes. What, she asked, was he looking for?
Fasciculations, he responded, referring to the myriad brief involuntary muscle twitches he had observed. Then Chahin gently asked Emmons whether she had heard of bulbar-onset ALS. She burst into tears. “It broke my heart,” Chahin recalled.
Most cases of ALS are classified as “limb onset” because they initially affect the extremities, often the legs. But about 30 percent are “bulbar-onset” because they first manifest in the head, specifically in muscles that control speech and swallowing. Fasciculations, or persistent muscle twitches when accompanied by muscle weakness, are a common sign of all forms of ALS, but occur later in bulbar-onset disease. (They should not be confused with benign fasciculations like an eye twitch, a nearly universal, harmless phenomenon.)
Bulbar onset is regarded as a more aggressive form of ALS, which strikes about 5,000 Americans annually. In most cases, the disease seems to occur randomly; a genetic form is believed to account for about 15 percent of cases.
Although bulbar-onset ALS is more difficult to diagnose than limb-onset disease, Chahin said he is puzzled that neurologists missed it. Difficulty forming words and swallowing are classic symptoms.
Emmons was also experiencing widespread fasciculations along with muscle atrophy, foot drop and abnormal reflexes, in addition to inappropriate involuntary displays of emotion known as “pseudobulbar affect.” All can be signs of ALS.
A second EMG performed at OHSU a few weeks later was abnormal and confirmed the diagnosis. Chahin, who directs the university’s ALS clinic and has seen more than 700 people with the disease, speculated that the first EMG and swallowing study may have been misread.
“These studies are very subjective,” he said.
Emmons said that even though Chahin and his fellow delivered shockingly bad news to her and Calandrino, both doctors were “really wonderful . . . they made us feel very cared for.”
The couple travel to Portland every three months to attend OHSU’s multidisciplinary ALS clinic. Chahin said that one of his patients with bulbar-onset ALS has lived for six years. Emmons’s breathing, he said, is “very, very good — so that’s a good sign.” Emmons has begun taking medications to treat the disease.
Ten days after the diagnosis, on Valentine’s Day 2021, the couple married.
They are trying to derive pleasure and comfort from time spent with friends and family and their shared experiences. Both laugh at the memory of their shellshocked drive home after receiving the diagnosis.
They stopped at a high-end mall along the route and tried to distract themselves by buying a candle and a sweater. As the clerk was wrapping the items, she innocently inquired, “So how’s your day going?”
Emmons recently bought an assistive communication device that can translate eye movements into speech. Her voice has continued to falter and she says “it takes me forever to eat now” because of deterioration in the muscles that control swallowing.
Her next novel is scheduled for publication in September. Several friends have agreed to appear in her stead at readings. And her sister’s voice will be her synthetic voice when speech becomes too difficult.
One of the hardest things, Emmons maintained, is “dealing with other peoples’ assumptions” — namely that her impaired voice equals an impaired brain.
During a recent coronavirus test before a medical procedure Emmons said the nurse “spoke at top volume like I was in kindergarten.”
She said she hopes her experience will alert others to the lesser-known form of ALS, enabling them to seek effective treatment earlier that might slow progression of the disease.
“There were many steps along the way where something was proclaimed to be normal, but turned out not to be, ” she said.
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