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‘It would give you a future’: ALS patients hopeful as Halifax researchers work on early diagnosis test

HALIFAX – A Halifax researcher is working on a test that may allow for the early diagnosis of ALS.

ALS is a neurodegenerative disease where motor neurons die, which prevents messages from getting from the brain to the muscles. There is no cure and life expectancy after a diagnosis is often only a few years.

Dr. Victor Rafuse, director of the Brain Repair Centre and a neuroscience professor at Dalhousie University, is working on a way to screen for compounds that would keep motor neurons living and functioning longer.

Rafuse focuses on ALS research. Julia Wong/Global News

He is also trying to pinpoint a method for early diagnosis of ALS.

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“What we’re trying to do is identify proteins that are mis-expressed by ALS-diseased motor neurons and see if we can identify those proteins. Then [we] can use that as a screen to say ‘Ok if the  individual, if the motor neurons are expressing these proteins in an abnormal fashion then we can actually use that as a definitive screening for the disease’.”

Rafuse describes the test, which is still in development, as a blood test and estimates it is still many years off.

He admits that the disease is still a mystery, even for researchers like himself who have been studying ALS for years.

“We don’t really know why the motor neurons die. We don’t know why they lose contact with the muscles prior to death in the first place,” he said.

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“There is no real treatment for ALS other than to provide better care of the individual.”

 

Bedford couple makes dramatic changes after ALS diagnosis

Providing better care is something Deana Davis, 51, of Bedford knows all too well.

Approximately five years ago, her husband Darrell Cottam, 50, was diagnosed with ALS.

“He started slurring his words at night and the more tired he was, or perhaps the more relaxed he was, the more it was noticeable,” she said.

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After a couple doctors visits, the couple got the devastating news.

“Life changing. Surreal. It’s the last thing you expect,” Davis said with a small smile.

Day-to-day activities have changed drastically for the pair as the ALS progresses in Cottam.

The couple installed an accessible shower, bought a wheelchair after Cottam wasn’t able to walk and inserted a feeding tube after he wasn’t able to swallow.

Cottam also communicates using a keyboard but is able to say “Yes” and “No” by using a thumbs up or thumbs down, respectively.

For Cottam and Davis, more research into the neurodegenerative disease means more hope.

“[It means] Life,” Davis said while holding back years. “Because the diagnosis doesn’t give you that. It gives you some life to live but it takes away a lot. It would give you a future.”

“The idea that there are scientists that are working towards trying to come up with anything and everything to help … it gives you a tremendous amount of hope.”

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Davis also said a test for early diagnosis of ALS would mean the world for future patients.

“At least you can start making decisions, making plans, doing things and learning about the disease. I think for a lot of people who have spent a long time trying to get a diagnosis, it would be a lot of relief.”

 

Appeal for donations to further research

The Molly Appeal raises money for research at the Dalhousie Medical School. Every year, it has a different focus and this year’s focus is neuroscience research, specifically the Maritime Brain Tissue Bank. The bank is used by many scientists for neurological research.

Rafuse uses the bank often for his ALS research and is hopeful people will consider donating to the cause.

“Much of the work we do in the pre-clinical era that I live in is really working with animal models with ALS and tissue culture models of ALS,” he said.

“Ultimately we want to see whether our theories hold true in individuals with ALS. The advantage of having the brain tissue bank is that we can actually look in the spinal cord of individuals who have succumbed to the disease and actually see if the protein changes that we document in our animal models or tissue culture models actually hold true in the patient.”

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Dr. Sultan Darvesh, the director of the Maritime Brain Tissue Bank, said expanding the brain bank means more opportunities for research into diseases such as ALS, Parkinson’s disease and Alzheimer’s disease.

The Maritime Brain Tissue Bank was established approximately 20 years ago. Julia Wong/Global News

“The most important thing to us is somebody discovers the cause and hopefully the cure for neurological conditions such as Alzheimer’s disease, ALS and MS,” he said.

“This is a huge problem. I think it’s important we as Nova Scotians and as Canadians step up to the plate and say we are going to help combat these diseases.”

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