Sickle cell anemia and rare diseases: Ottawa-funded research

The Canadian Minister of Health, Jean-Yves Duclos, during the announcement, in Montreal, of research funding < p>After several years of struggle, the Montreal organization Association d'anémie falciforme du Québec (AAFQ) will be able to count on federal government funding for research and drugs to relieve children with this rare disease. The Canadian Minister of Health, Jean-Yves Duclos, has just set up the National Strategy for Drugs for the Treatment of Rare Diseases, a $1.4 billion fund over three years.

“ It is a step in the right direction. We've been waiting for this commitment for a long time,” said the president of the AAFQ, Wilson Sanon, in an interview with Métro.

Sickle cell anemia, or sickle cell disease, is a common, inherited blood condition that causes chronic anemia. It also causes periodic attacks of pain and other complications and particularly affects new Quebecers. For every 100,000 births in Quebec, there are 50 cases, especially in the greater Montreal area, according to the Ministry of Health. According to the Sickle Cell Association of Canada, about 6,000 Canadians – mostly those from countries where malaria was common, such as the African continent and the Caribbean – suffer from it.

Thousands of years ago, hemoglobin S prevented the malaria parasite in tropical countries from entering red blood cells. But since 1910, what represented protection for an entire population has become the nightmare of many parents and children.

A disease that migrates

According to the World Health Organization (WHO), sickle cell disease is considered one of the four major public health challenges in the world, along with malaria, AIDS and tuberculosis. And it is to be expected that the rate of affected children will increase with recent immigration and the formation of mixed couples. A black carrier of hemoglobin S who has a child with a white one risks transmitting the protein to the child. And so on.

For several years, the Association of Parents of Children with Anemia says it has identified cases in Sherbrooke, Beauport, Chicoutimi, Sept-Îles, Îles-de-la-Madeleine and Quebec City, among others.

According to the Minister of Health, the new funding will help provinces and territories improve access to new and emerging medicines, as well as existing medicines. Early diagnosis and screening for rare diseases for which the AAFQ was fighting must also be carried out.

This will help patients with rare diseases, especially children, to have access to treatments as soon as possible, thus ensuring a better quality of life for them.

Jean-Yves Duclos, Canadian Minister of Health  

But presumably, Minister Duclos was not well aware of the ravages of the disease in immigrant communities. A few months ago, it was the deputy for Bourassa, Emmanuel Dubourg, who had favored a meeting between Mr. Duclos and the president of the AAFQ, Wilson Sanon. The latter was able to convince the federal deputy of the need for research and early detection of the disease.

Screened in Quebec since 2016

“While I was a provincial deputy, I worked with Minister Bolduc to screen for this disease in Quebec. At the federal level, research is being undertaken to find drugs to relieve people with sickle cell anemia, ”wrote Mr. Dubourg on his Facebook page.

In 2013, a pilot project was launched in Quebec, but it only concerned Montreal and Laval. Faced with the worrying result, the government decided not only to make screening compulsory but also to extend it to the whole province since 2016 for all Afro-descendant children.

But the president of the AAFQ, Wilson Sanon, says he deplores failures in the screening program. In its data, Quebec does not take into account healthy carriers who could, towards adulthood, transmit the disease to their children if they form a couple with another carrier.

Carriers are not automatically notified. This is why we, at the association, are making people aware of requesting information from the Ministry of Health using a form available online.

Wilson Sanon, President of the AAFQ

The ministry says it does not want to “irritate the parents” with such information, “but it remains important data for the child when he becomes an adult”, pleads Mr. Sanon.

Since May 2006, Ontario became the first province in Canada to universally screen infants for blood disorders such as sickle cell anemia.