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National Non-Profit Organization |
The Canadian Fabry Association (CFA) was incorporated as a non-profit
organization to raise awareness and educate the public about Fabry
disease, a very rare life threatening genetic, lysosomal storage
disorder. Patients are missing a key enzyme, which causes extreme pain,
inability to sweat, gastrointestinal problems and eventually kidney
failure, heart attacks and strokes. The average life span of a male
patient without treatment is 40-50 years of age.
The
CFA also encourages and support research into the causes, treatment and
management of Fabry disease, but most importantly to arrange for,
co-ordinate and increase the facilities available for diagnosis,
consultation and treatment of those suffering from Fabry disease. The
diagnosis of Fabry disease like any other rare disorder is the first
and most critical and frustrating challenge for any one with a rare
disorder. You cannot treat what you do not know.
The good news is that about 6 years ago, enzyme replacement therapy (ERT) was developed approved to treat those with Fabry but at a cost of approximately
$250,000 per patient per year. Enzyme replacement treatment has finally not yet been approved in Canada, however, Canadians with Fabry disease continue to struggle with access to ERT and the CFA has advocated for several years that the publicly funded health care system in Canada should fund and provide ERT to those that require it.
Health Canada
approved ERT for use in Canada back in January 2004, but the provinces
refused to cover it until August 2006 when a three year funding
agreement between all provinces, the federal government and companies
gained approval. The challenge now is that the Canadian Research Protocol (a Canadian made registry) has not yet been approved by all of the various ethics review boards across the country. Everyone
who was on treatment via a clinical trial or compassionate use is now
back on it which includes those in Ontario and Nova Scotia many who
were cut off for over a year. The bad news is that those who are “new
patients” and meet the strict Canadian guidelines have not yet started
ERT.
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