SFU lab helps patient manage rare disease through programmed exercise

Dave Clarke, left, and Jack Zhao from the Clarke Laboratory for Quantitative Exercise Biology.

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May 20, 2020

A rare mitochondrial disease left SFU alumnus Elizabeth Nadeau (pictured left) exhausted, housebound and on long-term disability. But help from SFU’s Laboratory for Quantitative Exercise Biology has changed her circumstances, leading to recovery through self-management, and a scientific paper about the process.

The human body contains thousands of mitochondria that convert the food we consume into energy.  When these tiny structures fail to function properly, a number of debilitating diseases, for which no cures or therapies exist, can occur.

For Nadeau, the disease presented as Multiple Symmetric Lipomatosis (MSL).

“I developed multiple large fatty masses around my upper back.  After menopause they grew quickly and at that point,” she says, “they began to interfere with my sleep and my breathing.”

Nadeau's only treatment option was to undergo debulking surgery that would temporarily remove the growth. The surgery removed three kilograms of fatty tissue but precipitated a severe metabolic crisis for Nadeau.

She says, “I was housebound. I couldn’t walk without extreme fatigue—I could not make my bed in the morning. Ordering groceries online was exhausting, but at least I could do it in my pajamas. I had no energy to wash my hair or to even make a cup of tea.”

She was placed on long-term disability.

Dissatisfied with her quality of life and the prospect of future surgeries, Nadeau began researching alternatives outside the current standard of care.

She eventually embarked on a strict low-carbohydrate diet, timed the intake of nutrients and improved her sleep, stress and exercise levels—all of which she meticulously documented and reported to her care team.

To ensure the integrity of the exercise portion, Nadeau was referred to Dave Clarke who oversees the Laboratory for Quantitative Exercise Biology at SFU. Clarke collaborated with Nadeau to examine the science of exercise programming that has been shown to be safe and effective for patients with mitochondrial disease. He enlisted the help of his student at the time, Jack Zhao, to oversee a personalized program for her.

Nadeau says that input from Clarke and Zhao was critical to her recovery.

“Dave taught me the science and oversaw the process of writing and submitting a scientific paper, while Jack designed a progressive exercise program for me that we continue to use today,” she says. “Jack tells me I am now an intermediate power lifter!”

The paper, written by Nadeau and her care team, was published in Mitochondrion this month. The paper documents Nadeau's progress and reports that, after two years, she has reduced the size of her residual post-surgical lipomas, has markedly enhanced exercise tolerance, and has shown sustained improvement in all subjective and objective health biomarkers. She has also returned to fulltime work.

It is still unclear how Nadeau’s unexpected success may apply to other patients with mitochondrial disease. Now that her case has been presented at medical conferences and reported in a scientific journal, it’s possible her case could motivate the medical community to re-examine treatment protocols for those dealing with mitochondrial conditions.

“Elizabeth’s remarkable story demonstrates the tremendous potential of exercise, nutrition and lifestyle choices for managing and treating chronic diseases, even genetic diseases for which there are no cures,” says Clarke.

“Elizabeth’s initiative, determination and meticulousness inspires us all.”