In 2000 the Ataxia gene was discovered
In 2006 the foundation was formed
350 people diagnosed with ARSACS in Québec
$3 million raised by the foundation to date
Ataxia Charlevoix-Saguenay Foundation
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare disease that can be traced back to the first settlers to this region of Québec in the 17th century. But it has only been since 2006, with the creation of the Ataxia Charlevoix-Saguenay Foundation, that research has been undertaken on the disease.
The foundation was created by the husband and wife team of Jean Groleau and Sonia Gobeil, Montréal lawyers whose two sons have the disease. ARSACS is caused by a genetic mutation which can be passed down through generations without any symptoms appearing. It’s when the mutated gene is passed on by both parents that the disease occurs.
ARSACS appears in early childhood affecting motor skills and progresses through adulthood causing impaired mobility, lack of co-ordination, speech difficulties and, ultimately, the use of a wheelchair.
By raising funds privately, the foundation has been able to fund research into the disease in concert with a number of organizations including the McGill University, the Montreal Neurological Institution, the Centre hospitalier de l’Université de Montréal, the Children’s Hospital of Eastern Ontario, and the University of Ottawa. The foundation is also working with a major pharmaceutical firm on development of a drug to treat ARSACS. Since its inception, the foundation has raised a remarkable $3 million to fund research.
“While there are only 350 people in Québec with the disease, ARSACS is similar to a number of other equally debilitating diseases found globally,” says Sonia Gobeil. “We are working with researchers in a number of different fields with the goal of jointly developing a treatment that will benefit all patients with these similar diseases.”
“The support we have received from Power Corporation and others has been critical to the success of the foundation” says Jean Groleau. “Having such support gives us great credibility within the medical and research industry and with the community as a whole.”
Through the diligence of the two founders, it took less than nine months from the time they decided to launch the foundation to the beginning of research.