From Symptoms to Diagnosis: My Journey with ALS in My 40s — Unseen Signs to Recognize and the Harsh Truth of Living with a Terminal Illness

Stephanie Thompson’s Journey with ALS

May is ALS Awareness Month, a cause that resonates deeply with Stephanie Thompson. The Ottawa-based mother, now 44 years old, first experienced the strange symptoms of amyotrophic lateral sclerosis (ALS) in her early 40s. Initially, she noticed unusual muscle cramps that appeared without warning and seemed harmless.

“It’s common to get cramps in your feet, and I had those as well, so I didn’t think much of it,” Thompson recounted in an interview. “But then, while brushing my hair, my hand would seize up, clenching so tightly around the brush that I needed to pry my fingers free.”

As time passed, the cramping intensified, reaching a point where she struggled to lift her head off the pillow. Despite the escalating severity of her symptoms, Thompson waited two years before seeking medical advice.

The Delay in Diagnosis

Thompson described the demands of being a mother to her three boys, aged 15, 13, and 6, as contributing to her neglect of her own health. “There was always something happening, and I kept pushing my health concerns aside. But eventually, I realized it couldn’t be normal since it lasted for such a long time,” she admitted.

In September 2023, after two years of progressive symptoms, Thompson found herself having to brace herself just to stand. Following a consultation with her doctor, she was referred to a specialist for an Electromyography (EMG) to assess her muscle and nerve function.

“During the first EMG and physical exam, the doctors noted weakness, but I didn’t receive any definitive results at that time,” Thompson reflected. By December, a neurologist performed further tests and a second EMG, followed by an MRI in January. In February, after an agonizing five months of testing, Thompson received the heartbreaking diagnosis: she had ALS.

The Impact of the Diagnosis

“I fell into a dark place where I felt completely unable to function,” Thompson recounted. “The weight of the situation hit me hard; I was grieving the future I once envisioned for myself, realizing that it was no longer possible.”

Despite the emotional toll, Thompson acknowledged that her diagnosis came relatively quickly compared to many others battling ALS. Dr. Lorne Zinman, the head of Sunnybrook Hospital’s ALS Clinic in Toronto, confirmed this, stating, “In Canada, patients generally take one and a half to two years from their first symptom to receiving a formal diagnosis.”

A significant factor in the delay is the absence of specific diagnostic biomarkers for ALS, resulting in a process of elimination to arrive at a diagnosis. Moreover, the rarity of ALS adds to the challenges, as it affects only two to three individuals per 100,000 people annually, leading to a lack of awareness among general practitioners.

Understanding ALS

Also known as Lou Gehrig’s disease, ALS is a progressive neurodegenerative disorder that attacks the nerve cells responsible for muscle control, leading to severe impairments in speech, swallowing, movement, and eventually, breathing. As it stands, there is no cure for this devastating disease. Each year, approximately 3,000 Canadians receive an ALS diagnosis, and around 1,000 die from the illness annually.

The life expectancy for those diagnosed with ALS varies significantly; however, Health Canada estimates that 80 percent of patients succumb within two to five years of diagnosis. Dr. Zinman elaborated, “For reasons not fully understood, the nerves controlling muscles begin to degenerate. Most cases begin in a particular body region; this is known as bulbar-onset or spinal-onset ALS, depending on whether it starts with speech/swallowing or in the limbs.”

The Financial Burden of ALS

For Thompson and her fiancé, Devin Duquette, the financial implications of living with ALS were immediate and profound. They had purchased a home just months before Thompson’s diagnosis, which added additional stress to their financial situation.

“We didn’t have insurance on the mortgage, which was a substantial financial hit for us. We have to maintain the mortgage while navigating this challenging process. Additionally, our new home required upgrades, like a chair lift, to help keep me mobile,” Thompson explained.

Before her diagnosis, Thompson had been working remotely for a corporate bank. While her work was not physically demanding, the physical toll of simply sitting for long periods became unbearable, leading her to leave her job.

“The physical demands of even sitting at a desk became challenging. Continuous typing would cramp my hands, and then there was the added stress of work, compounded by the realization that I was facing a life-threatening illness,” she said.

Seeking Support and Raising Awareness

Despite the availability of public health care and home care programs, there remains a significant inconsistency in coverage throughout Canada. Families face extensive costs related to treatments, medicines, and specialized equipment necessary for care. According to the ALS Society of Canada, the average financial burden on a household dealing with ALS ranges from $150,000 to $250,000 over the course of the disease, earning it the moniker “the bankruptcy disease.”

The financial demands associated with ALS care exceed those experiences by individuals with HIV/AIDS, stroke survivors in their first year, and those with Alzheimer’s. Thompson explained, “Even with the help of the ALS Society of Canada, we had to resort to a GoFundMe campaign to secure funding for necessary bedroom equipment.”

“Maintaining expenses with a reduced income is incredibly challenging. While the ALS Society provides some devices, we have no say in what we receive. I found myself paying out of pocket for specific bathroom equipment because the necessary items weren’t available through any assistance,” she added.

The ALS Society estimates that the direct yearly costs associated with ALS, encompassing medical expenses, mobility aids, and home modifications, average around $32,337. Families end up contributing approximately 61 percent of that amount out of their own pockets, and indirect costs due to lost income or unpaid caregiving responsibilities can add another estimated $56,821 to the financial burden each year.

Community Connection and Future Plans

Thompson has turned to social media for community support, sharing her journey on platforms such as Instagram, notably through her account “ALS Gets On My Nerves.” This connection has provided not just encouragement but also an avenue to promote awareness about the disease.

“Every little bit of awareness helps. I think this happened for a reason, and I want to make the most of it,” she expressed. She and Duquette recently got engaged during New Year’s Eve in 2021, and despite the challenges they face, they are committed to one another.

“Although the future we envisioned isn’t the one we have now, and my diagnosis has changed our lives entirely, Devin’s adaptation as my caregiver has been incredibly inspiring,” she said. “We have had to detour in so many ways, yet we are planning to marry this year. Making memories and embracing our joy amidst this journey is our main focus.”