Better diagnostic training needed, says survivor of very rare illness
Timmins man calls on governments to consider covering new treatments
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The rare calendar day of Feb. 29 in a leap year is—fittingly— Rare Diseases Day.
There are about 3,000 people in Canada living with a rare disease, about one in 12 Canadians, according to the Canadian Organization for Rare Disorders.
One of those is Pierre Joly, an IT manager and technical operations manager for the Timmins Rock. He was diagnosed with Gaucher disease, a lysosomal storage disorder, after his surgeon noticed excessive bleeding following a childhood operation.
In 2020 he wrote a book about his lifelong journey with a disease so rare, he is one of only 200 with it in Canada or one in 190,000. In this country a rare disorder is categorized as one in fewer than 2,000 patients.
Joly’s book is called “My Gaucher Expedition,” and has sold 200 copies since it was published in 2020, to people in North America, the U.K., Italy and India.
It was written to help him heal psychologically from the ordeal of catching a bad infection following a surgery in 2018. He also wrote the book to help others by sharing his story, and to convey how the disease does not define him.
The book is available from the author and on Amazon, in paperback or on Kindle.
This reporter caught up with Joly at the Timmins City Hall Council Chambers on Wednesday, before Mayor Michelle Boileau’s proclamation of Feb. 29 as Rare Diseases Day in Timmins.
(This interview has been edited for clarity and length.)
Q: What is your rare disorder and how does it manifest?
A: I have a rare disorder called Gaucher Disease. It’s categorized as a lysosomal storage disorder. It’s the most common of the lysosomal storage disorders but the one the fewest people know about because it is also what is considered an invisible disorder. There are no external symptoms.
There’s an enzyme my body doesn’t produce that gets rid of a by-product in cellular digestion. That by-product builds up in my spleen, liver, bone marrow and causes all kinds of issues. I have an enlarged spleen and liver. I have issues with my bones due to the bone marrow needing more space, which causes issues with my blood counts. My platelets are low, which means if I get a small cut, I bleed more than a normal person, because platelets help with clotting.
Q: What would your call to the Ministry of Health or Health Canada be in this case?
A: I have attempted to get on three different clinical trials for gene therapy which would insert into my DNA the gene for the enzyme that I don’t produce, which could cure me since the cause for my disorder is not being able to make that one enzyme.
One company ran out of funding, and I’m still trying to qualify for the other two. The clinical trial might be my only chance to get gene therapy, because once approved, it would cost $3 million, and the government’s not going to want to cover that.
Governments need to look at the long term. It’s a lot but you only do it once and the cost is less than ten years of my current enzyme replacement therapy—where I get the enzyme my body doesn’t produce— which costs $350,000 a year and is covered by OHIP, but not all treatments for my disorder are covered.
In my case I’m very lucky, my disorder has multiple treatments available, but (my call to action is) more in regards to proper diagnosing.
A lot of people with rare disorders don’t know the questions to ask, and their doctors don’t know where to look to get the answers. Having access to proper diagnosing across the entire country and the world is something that is definitely needed.
Some rare disorders don’t have treatment options. I’m lucky I do have a treatment and I’m able to live an active life, such as the work I do with the Timmins Rock and the Gaucher Foundation. Without my treatment, I may not have the energy because of the fatigue that comes with my disorder.
Q: What would that look like?
A: Education for doctors and general practitioners, so they’re made aware these disorders are out there. Don’t discount each symptom, but look at what fits all of the symptoms. That was why I got diagnosed much later. We were asking the right questions when I was a child, but I didn’t get my diagnosis until after I had gallbladder surgery.
Q: Do you have other symptoms?
A: I have constant bone pain. For me, it’s normal, I deal with it. I have fatigue that comes and goes with the cycle of my treatment. As I get closer to my treatment, I start having more and more fatigue.
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Wednesday’s proclamation was a chance for Mayor Boileau to learn about rare diseases from Joly and his friend and fellow rare diseases awareness ambassador Celeste Montigny, who suffers from neurofibromatosis, a genetic illness.
Her illness causes non-cancerous tumours to grow all over her body, depression, a learning disability. She would like to see more awareness of her illness so people don’t judge her too harshly, “So people don’t look at you funny,” she said. There is no cure for her condition.
Boileau agreed people tend to judge things they don’t understand, so that Wednesday’s proclamation is an important way to raise awareness about rare diseases.
A proclamation is an official declaration issued by the Mayor of the City of Timmins or members of City Council to announce important causes, events, or observances that are significant to the City of Timmins and its citizens.
To request a proclamation or flag-raising, visit the City of Timmins website Proclamations and Flag-Raisings page.
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