When Grace Smith* woke up one morning in 2011 with tingling in her fingertips and later her hand, she thought it was a temporary reaction to the cleaning products she’d used the day before. By the next morning, the right side of her body was completely numb from her shoulder to her waist, so she went to the emergency room. Initially Grace was told that it wasn’t a big deal. She likely had a pinched nerve. But after speaking with her mom, a retired nurse, she went back to get a second opinion. A few weeks later - after multiple doctor visits and tests - Grace was introduced to the world of multiple sclerosis (MS).
MS is a chronic condition where the body’s immune system behaves abnormally and attacks the brain, spinal cord and optic nerves of the central nervous system (CNS). Canada has one of the highest rates of multiple sclerosis in the world, with an estimated one in every 340 Canadians living with the disease.
The disease attacks myelin, the protective covering of the nerves, causing inflammation and slowing or interrupting the signals being transmitted to the body. This damage leads to unpredictable and often debilitating symptoms like issues with coordination, weakness, vision problems, numbness and tingling, mood changes, and extreme fatigue. MS affects every person differently and its symptoms — either periodic relapses where symptoms worsen, or chronic problems that worsen as the disease progresses — can happen at any time.
Grace was devastated by her diagnosis. At age 33, she was just starting to build her career as a commercial litigator. She worked long hours at a high stress job that required her to be “on” all the time. She couldn’t imagine what the future held for her after being diagnosed with MS. As Grace explains, “When the initial shock wore off, I spent two to three weeks in an absolute funk. I thought I would be in a wheelchair in two years. I was in a really bad place.”
To add insult to injury, because of the nuances of her diagnosis, Grace wasn’t able to receive funding for a treatment that her neurologist felt could help slow her progression. Although the MRI showed that she had seven lesions in her brain and upper cervical spine, hallmark symptoms of multiple sclerosis, she had only experienced symptoms once. She was diagnosed with clinically isolated syndrome (CIS), a condition characterized by a single episode of neurological symptoms. Although it is considered the earliest form of MS, people who experience CIS may not have a second relapse or progress to an MS diagnosis.
“I kept getting pushed back because I wasn’t sick enough. And that made no sense to me,” she says. “I was at the back of the bus because I was healthy.” Grace was told that given the location of the lesions in her brain, there was a 90% chance that she would progress. Once again, she advocated for her health and successfully pushed to receive treatment. As expected, Grace’s condition evolved into a relapsing form of the disease, known as relapsing remitting multiple sclerosis (or RRMS), in 2017.
Today, the damage caused to her brain and spine by MS has resulted in Grace experiencing ongoing symptoms, such as migraines, fatigue, persistent tingling in her right hand and forearm, and a loss of feeling in her legs when she walks for more than five minutes. She also experiences a kind of heat sensitivity, known as Uhthoff's Phenomenon, where her symptoms worsen when her body is too warm. During relapses, she becomes extremely sensitive to heat, is unable to write because of a lack of coordination and numbness in her right side, and takes more time to formulate her thoughts, which can make it difficult for her to do her job.
“All things considered, I’m a lucky girl,” she says. “And I know that it could go the other way any day, which makes me that much more grateful.”
Although she sees herself as fortunate not to have significant cognitive impairment or mobility issues, Grace has had to make difficult decisions to accommodate her illness. She’s made compromises in her career, choosing to work for a firm where she can keep more consistent hours and be with colleagues that can support her if she’s fatigued or having a bad MS day. She and her husband David have also decided not to have children, which they consider a “massive sacrifice.”
Multiple sclerosis is an incredibly unpredictable disease, which has a marked impact on daily life. It can be difficult to predict how a person with MS may feel at any moment. For Grace, activities most people take for granted — like making plans to see a baseball game with friends, or going to an amusement park, or even having hot sauce on her chicken wings — make her anxious, so she often doesn’t do them anymore.
For Marie Lalonde, another patient living with RRMS, the disease has taken a completely different path. She suffers from fatigue, as well as numbness and balance issues when she gets tired. She also has long-term and short-term memory issues. At work, Marie would sometimes go into her manager’s office to ask a question and by the time she got back to her desk, she couldn’t remember his response.
As she explains, “Sometimes when my family are together, someone will say ‘oh, remember when we did this’ or ‘remember in high school,’ and well, no — I can’t. There are a lot of specific things I can’t remember. I have to write everything down. I keep a book with my symptoms, questions, and answers so that when I go to see my doctor so I don’t forget what I wanted to ask him or what he said.”
These symptoms have had a profound impact on Marie’s life. Because of her illness and ongoing symptoms, which are worsened by stress, she had to give up her career as an insurance underwriter. “For the first six months after being diagnosed, I wasn’t working. I went back part-time for a while, but after a few relapses, I had to stop working completely. Even now, whenever I do have stress or any worries, my left leg starts getting a little numb and tingling. I need a day or two of doing nothing, and then it goes away. It’s my body’s way of telling me I’m overdoing it,” she explains.
Before her diagnosis Marie was very independent. She owned her own house in the country about an hour away from work and enjoyed tending to her beautiful flower beds. Today she lives in a smaller home that is attached to her parents’ house. She helps around the property as much as she can, doing things like mowing the lawn. Tasks like grocery shopping are exhausting. Although she’s still able to drive, if she’s tired or when she has a lot of errands to run, her father drives and drops her off at the door of each store so she doesn’t have to park and walk.
It’s been 17 years since she was diagnosed and Marie is still living her life. When she received her diagnosis, she thought her life was over and that she would be in a wheelchair, but today Marie says the word “wheelchair” is no longer in her vocabulary.
Last year, Marie started doing karate with her brother, who just got his black belt. Even though sometimes her health or schedule don’t allow her to attend class, she tries to go once a week when she can. “It helps emotionally and physically. When I leave there, I feel really good,” she says. “You have to keep looking after yourself and your health, and continuing to exercise. You have to keep doing that and not just give up.”
While both Grace and Marie have RRMS — the most common form of the disease, in which people have clearly defined attacks of new or worsening neurologic symptoms known as flare-ups or relapses, there are many different types of MS.
People with RRMS have complete or nearly complete recovery in between relapses, whereas with secondary-progressive MS (SPMS), distinct relapses and remission become less apparent over time and the disease begins to progress steadily, sometimes with plateaus (a period where there is little to no change in their health). Around half of the people living with RRMS start to worsen within 10-20 years of diagnosis, often with increasing levels of disability.
In contrast, patients diagnosed with primary progressive multiple sclerosis (or PPMS) — the most debilitating form of the disease — experience continuous deterioration with their neurological function steadily worsening over time. About one in 10 of the approximately 100,000 Canadians living with MS today is battling PPMS. The steady and ongoing worsening of their disease results in severe symptoms, like difficulty walking (a sign of spinal cord disease), as well as brain and spinal cord atrophy (or shrinkage).
While traditionally these MS diagnoses were considered distinct subtypes, disease progression between these stages isn’t well understood. In most cases, people with MS visit their neurologist once or twice a year. As a result, they may not clearly remember their last relapse or how well they perform tasks now versus their last appointment.
At Roche, we believe more is needed to help transform the way MS is measured, managed and understood. We think of MS as a continuum of disease where underlying disease activity and disability may progress independent of relapses. With more accurate, real-time monitoring, we can learn more about the disease and how people progress from one stage to the next. Through a global research project that we hope to roll out in Canada later this year, we’re looking to make precision monitoring a reality for people with MS and their doctors with MS-specific, active neurological tests and passive monitoring using an app on a smartphone.
Using technology to objectively and quantitatively measure daily disease status without requiring people to remember symptoms may help us go beyond the visible signs that a patient may experience or a neurologist may see. Disease progression that could have otherwise gone unnoticed may be identified and managed to increase the likelihood of preventing future disability.
We’ve made great progress in understanding and managing multiple sclerosis, helping patients like Grace and Marie live healthier, more active lives. Using new approaches to more precisely monitor MS could help us better understand the disease, respond to changes sooner, and ultimately could help protect the brain health of people living with the disease.
May 26, 2018*To protect the privacy of the individuals featured in this story, the names and identifying details have been changed.