To answer Ms. Leslie's question, I would say that we should expand on the second point in the letter to the minister; this is establishing a national plan for promoting the prevention, diagnosis and care of rare diseases.
I would like to give some examples from our patient associations and from our information and support portal. Many people call us or write e-mails to us to find out who the specialists in their diseases are in Quebec and in Canada. The situation is worse for people who live outside urban areas. Those people see a family doctor or perhaps a specialist once a year, but the doctor and the specialist do not seem to have in-depth knowledge of the rare disease in question. So the patients want to know if there is a specialist in Canada for that disease.
Patients will often find specialists outside the country through the Internet. I will give you another concrete example. A mother called us because her child has a chromosomal abnormality. She lives outside an urban area. She received the diagnosis for her child. She was told that nothing could be done for this chromosomal abnormality, the symptoms would be treated and she will be sent back to her region. On her own, she found a specialist in cytogenetics in France to help her. But there are cytogeneticists in Canada and in Quebec and she communicates through e-mail with a specialist from France. She even hopes to go there. It is absurd. All because we have not put our specialists in a directory for Quebec and all the provinces in Canada. We have expertise, specialized clinics and multidisciplinary teams for some diseases. We do not have enough, but the ones we have are not even in a directory.
Doctors have a hard time finding the resources, such as the resource centre for Fragile X Syndrome in Ontario, the clinic for tuberous sclerosis in Sainte-Justine or the clinics for Marfan syndrome in several provinces. They do not even know where to look for them. In Europe, and even in the United States, directories were created by patient organizations. In Europe, there is a tool called Orphanet where all that information is recorded for each European country.
So, a national plan that includes the creation of a directory would be very beneficial for care and early diagnosis. Shared practical guides, exchange and collaboration between health professionals would provide Canadians with better care. There are few patients in each province. There can never be a specialized clinic in every province for each of the 6,000 diseases, but there could be specialized clinics at the national level.
There could be what they call in Europe cross-border care, or if not, there are technologies like telemedicine or other ways to share knowledge. That is what patients are missing in our health care system, which is largely designed for common diseases.
If we had such a plan, all Canadians could benefit from it because the delay in receiving a diagnosis would be reduced, there would not be inappropriate treatments and we would not reach a critical point in care for those patients. There could also be support and social services that could help them, which would also lighten the burden on our health care system.
Almost 3 million Canadians have rare diseases, and many have serious, debilitating and fatal illnesses. We could take some of the weight off our health care system if we had a more standardized approach. It would already be a step forward to have them recognized nationally, with a definition of rare diseases that the provinces could follow. Working effectively together, we should adopt a plan that each province could implement individually without it being considered interference in their health care system.
Thank you.