In rare disease, rare day

For the medical geneticist Bruno Maranda, rare diseases are rife. But for patients who learn the new or their relatives, he said, the experience was overwhelming. That is why it is extremely important to put them in touch with each other, wherever possible. The doctor participated yesterday in a briefing in Quebec City on the occasion of the first International Day of rare diseases. In rare disease, rare day, it will be on February 29, have decided to organizations behind this initiative. The meeting was also an opportunity to present the Portal Quebec orphan genetic diseases (PQMGO), a Web site whose mission is to disseminate information on rare diseases, but also create, through testimony and awareness face the symptoms or conditions affecting some people. Car rare disease often tantamount to ignorance, stressed Denis Fiset, director of the World Foundation of Charlotte, the body behind the portal. Because of their rarity, they are often ignored doctors themselves, so it can be long before a diagnosis. And no diagnosis is often equivalent to inadequate care. "There are 24 geneticists in Quebec would be needed in 45. Do you think that its often wander in the Gaspe? "Launched the director. Cemeteries talk He himself will sometimes wander in cemeteries in small villages. He said they had discovered at Saint-Juste-du-Lac, in the Bas-Saint-Laurent, the graves of six children from the same family died in the space of 10 years ago between forty years . 'Do you think the families knew what these children died? That cousins, cousins, know what that hangs over their head? Nobody is aware. It is our role to break it, "he says about the foundation he heads. He invited those affected or their relatives to come forward. "You can not get people to their homes by the hand." However, as long as they remain isolated in their corner, rare diseases continue to be ignored in the world of medical and pharmaceutical research, "he says. In the fog Mr. Fiset has set up the foundation after living the painful loss of her little Charlotte at the age of four and a half years, driven by the Tay-Sachs disease. "We swam in a total fog," he says about the experience. Armand Perreault, he really did not know what affect that last fall, at a conference given by a Japanese doctor. In the fifties and suffering from Morquio syndrome, which affects bone growth, it had never really received any information about his illness, he said. A heavy burden for patients and relatives A child with a rare disease are never alone in his misery. It's his entire family, and most importantly his parents, who bears the burden. According to Denis Fiset, of the World Foundation of Charlotte, 75% of diagnoses of rare diseases are placed on children, and a third of them will not survive. For parents, the impact is violent. From eight to nine couples separate following the death of a child due to a serious illness, "because they can no longer cope," says Fiset. And in the majority of cases, one of two left her job to care for the child. The economic difficulties are correspondingly high. But learning that her child has a rare disease often means that we learn is self-bearer. A large proportion of these diseases are indeed genetic in origin, "says Dr. Bruno Maranda. A person carries is not sick. But when two carriers have a child together, the risk that the child develops the disease is one in four. That is not without cause dramas within couples who, after a painful experience, wondering if they can procreate again. Chantal Michaud, it has the "opportunity" to be carrying a disease that can be detected by prenatal testing, the Tay-Sachs disease. Mother of a small Antonin in perfect health, she then lost a child to this disease. Today it is five months pregnant and knows that her baby is healthy, through amniocentesis. Julie Corbin, it has not. She also had a healthy baby boy early when Emily was born. The pouponne lived four months before dying of Leigh syndrome. Unfortunately, there is no prenatal test that would enable it to know whether a child will be reached next. For others, finally, ignorance and unknown weigh any weight. This applies to parents of the little Juliet. The bambine five years, which has already been the subject of a report in The Sun, does not talk, does not work, is incompetent and regularly contusions. "There is no diagnosis," said the mother Chantal Levesque. It is not known whether his condition will continue to deteriorate if it is going to die or anything. "