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Rare Disease Day: One man’s story

February 29th every leap year – the 28th every other year – is Rare Disease Day around the world.

Pierre Joly of Timmins has one of those rare diseases.  He is one of just less than two-hundred Canadians with Gaucher Disease.  The metabolic disorder results in the accumulation of certain fats throughout the body, especially the bone marrow, spleen and liver.

“Primary symptoms that I have is I have an enlarged spleen and liver;” says Joly, “I also have issues with my platelet count, so my platelets are low, so if I get a cut, I bleed quite a lot longer than a regular person>

He also has constant bone aches.

Forty-three-year-old Joly says Rare Disease Day is important, especially for people who might not know they have a rare disorder, because they think that what they feel is normal.

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“Having this conversation on Rare Disease Day in regards to raising awareness for all rare disorders makes people stop and think and get the diagnosis and then they’ll get treatment to fix things that might be going wrong.”

You can hear a lot more about Rare Disease Day; how IT operations manager Joly deals with his; and a book he’s written about it in the audio link below.

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