1 in 12 Canadians are living with a rare disease



Pompe disease is a neuromuscular disorder that causes progressive muscle weakness and the loss of muscle tissue. Symptoms can include difficulty performing physical activities, trouble chewing and swallowing, and an inability to rise from a seated position. Left untreated, Pompe disease can result in irreversible muscle damage and permanent confinement to a wheelchair.



Fabry disease is a rare genetic disease that can be passed on from parents to their children. Symptoms can include severe pain in the hands and feet, red spots (angiokeratoma) on the midsection, and ringing in the ears. Left untreated, Fabry disease can lead to renal failure, resulting in the need for dialysis or a kidney transplant.



Gaucher disease is a rare, progressive, inherited condition that causes a fatty substance, called glucosylceramide (also called GL-1), to build up in certain areas of the body, including the spleen, liver, and bone. Symptoms can mimic other diseases. If you suspect Gaucher disease, get tested.



MPS I disease is a rare inherited genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase. MPS I occurs in about 1 in every 100,000 births globally. Patients with MPS I disease can experience a wide range of symptoms with variable degrees of severity. If you suspect MPS I disease, get tested.


​ We all play a part in early diagnosis. Many thanks to our partners:

Canadian Association of Pompe
Muscular Dystrophy Canada
Canadian Fabry Association
National Gaucher Foundation of Canada
Canadian MPS Society

Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

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