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.
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 she worried she had developed a bit of a lisp. She visited her dentist, who found nothing wrong with her bite.
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’ 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.
But a blood test commonly used to diagnose it was normal.
In July an otolaryngologist examined Emmons’ 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, a drug used to reduce myasthenia-related muscle weakness, 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, also known as Lou Gehrig’s disease), 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..
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.
Her deteriorating voice made Emmons shy away from readings, public speaking or interviews.
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 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.
About 10 days later, Emmons saw Nizar Chahin and a young doctor working with him.
The junior doctor examined Emmons first. Chahin then joined them, repeating parts of the physical exam. He asked Emmons whether 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% 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% 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.
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, 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.
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.
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.