A Novelist Was Determined to Find the Answer to Her Own Mysterious Disease

An article by Sandra Boodman of the Washington Post recently appeared in the Philadelphia Inquirer describing the long journey to an accurate diagnosis for sixty-nine-year-old novelist Cai Emmons.

Cai had taught creative writing at Oregon University. Her first noticeable symptom that was problematic was a change in her voice. This was followed by a sensation that her teeth were shifting, which resulted in a visit to her dentist; yet there was nothing unusual in her bite.

After a May 2020 telehealth appointment conducted by a primary-care physician, Cai began her medical diagnosis journey. From there she was referred to a doctor specializing in ear, nose, and throat disorders, but the earliest appointment would be in July 2020.

In the meantime, a friend of Cai referred her to a physician who practiced medicine in Ohio. After listening to Cai’s symptoms, the doctor suggested that her problem may be myasthenia gravis, a neuromuscular disorder causing muscle weakness.

The blood test proved to be normal.

Cai saw an otolaryngologist in July who examined her vocal cords. Finding nothing unusual, the doctor referred to a neurologist in Eugene, Oregon.

The neurologist prescribed pyridostigmine, which is a drug that is used to control weakness in muscles associated with myasthenia gravis. Additional tests were ordered. One of the tests, electromyography, involves inserting small needles not only into the muscles but also into the tongue to measure nerve stimulation and electrical activity.

The neurologist explained that the tests would differentiate between myasthenia gravis and motor neuron diseases.

One such disease is amyotrophic lateral sclerosis (ALS) which affects the spinal cord and brain. These nerve cells are responsible for controlling movement. The neurologist was confident that Cai’s diagnosis was not ALS.

Cai was having difficulty swallowing, and a CT scan was ordered to scan her neck. The doctors ordered an MRI of her cervical spine and brain checking for a stroke, tumors, or lesions looking for signs of multiple sclerosis.

All tests came back normal. By this time, Cai was no longer able to arrange speaking engagements or interviews.

Cai and her twenty-year partner, playwright Paul Calandrino, went to see a laryngeal specialist at Oregon University’s medical center.  The doctor asked Cai if she had episodes of crying or inappropriate laughing. Cai had not considered having either of these events. The specialist said that he suspected pseudobulbar palsy affecting the control of facial muscles. Another neurologist referral ensued.

Bulbar-onset ALS

Cai’s next appointment was with Dr. Nizar Chahin, and a young doctor who examined her. They were joined by Dr. Chahin who after examining her legs and noted brief muscle twitches. When he mentioned bulbar-onset ALS, Chai said that she was heartbroken at the diagnosis.

Her symptoms, muscle twitches of an involuntary nature, mimic thirty percent of cases and are bulbar-onset as they first appear in the head and muscles controlling swallowing and speech. This form of ALS, affecting approximately five thousand people in the U.S. every year, is very aggressive. The disorder appears to occur randomly, although about fifteen percent of cases can be associated with genetic forms of the disease.

Most cases of ALS, however, are limb onset as they first occur in the extremities. Muscle twitches (fasciculations) together with muscle weakness are typical of all types of ALS. They occur at a later date in bulbar-onset disease.

Dr. Chahin said that bulbar-onset disease is not easy to diagnose. However, he questioned how it had not been discovered by the previous neurologists because Cai had classic symptoms. He suggested that the test result had been misread.

Meanwhile, Cai was trying to cope with her diagnosis. She said that the doctors were wonderful and showed compassion.

Following the Diagnosis

Cai and her partner journey to Portland, Oregon to attend OHSU’s ALS clinic on a regular basis. Dr. Chahin pointed out that her breathing is good. As Cai’s voice continues to weaken, the couple is preparing for assistive communication through a recently purchased device that converts eye movement to speech. She has begun to take medications that treat the disorder.

Cai and her partner were married on Valentine’s Day in 2021.

The Next Novel

Cai’s next novel will be published in September 2021. Her friends offered to take her place at the readings. When speech becomes too much of a problem, the voice of Cai’s sister will become Cai’s synthetic voice.

Cai would like her experience to alert people to the types of ALS that are mostly unknown so that more people will receive treatment earlier and slow the progression of the disorder.

She often thinks back to the many opportunities that were missed where a symptom was called “normal” when it was actually not normal.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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