Linda Roussel of Châteauguay leads a busy life as a mother, elementary school teacher, flamenco teacher and jewelry designer. But, one day, her life was turned completely upside down when a routine ultrasound revealed a lump on her pancreas.
“I was scared that this would be the end of me,” Linda recalls. When the new footage also revealed a tumor in his kidneys, Linda turned her attention to her 16-year-old son, Loik, and described how he must feel upon hearing the news.
diagnosis is just the beginning
“The doctors thought it strange that I had tumors in both my kidneys and my pancreas at the same time. So they recommended genetic testing. I had three surgeries in a short period of time, so I had time to think about my situation,” explains Linda. There wasn’t much time for that. I was too scared to get the test results. »
It was discovered that Linda had a genetic condition called von Hippel-Lindau disease (VHL), one of the rarest conditions that affects only one in 36,000 people. Desperate for answers and knowing that her son had a 50% chance of inheriting it, Linda turned to the Internet. However, because VHL disease is so rare, reliable information was difficult to find — until she discovered the Regroupement Québécois des Maladies Orphanes (RQMO), an organization whose mission is to support patients and rare disease researchers.
RQMO established in 2010 dre Gail Ouellet, geneticist, who has seen many patients struggle to get diagnosed with a rare disease or find support and resources after receiving a diagnosis. “Patients were walking out of the office with a strange name for a disease they’d never heard of, with no resources or ideas what to do,” Dr.re Ouellette. When you have cancer, diabetes or heart disease, everyone knows and understands about the disease. But when you have Shwachman-Diamond syndrome, Usher syndrome or VHL disease, people don’t know how to react. The patient feels completely isolated. ,
Millions of Canadians at risk of being left behind
Rare, so-called orphan diseases, often receive inadequate support in the health care system: no experts, no support networks, no effective treatments, no well-funded research and not enough training of health workers. Yet, while each disease is indeed rare, collectively these thousands of known rare diseases affect approximately one in 12 Canadians, leaving millions in need of assistance. Moreover, in many cases these are children.
RQMO provides this support in large part through its iRARE Center, which is designed to help patients find more information and support about the rare disease they suffer from. “If someone approaches us without receiving a diagnosis, we can help refer them to a geneticist or specialist,” Dr.re Ouellette. Once the diagnosis is known, we provide them all possible help. We are creating an information sheet that lists all the resources, patient organizations, clinical recommendations, protocols, and advice they need. If there is a specialized clinic, we can refer them there. If there’s a special doctor who specializes in their disease, we’ll find it. We connect patients with treatments, clinical trials, and ongoing research. And we don’t limit our research to Quebec: we look in the rest of Canada, in the United States, in Europe, and everywhere in the world. We have given this mission to ourselves. ,
together against uncertainty
For Linda and Loic, who were also diagnosed with VHL disease, this support was vital. Mother and son were trying to navigate their new reality with the disease causing tumors in organs throughout their bodies. Basically, “I had to learn to live with cancer for the rest of my life,” Linda says.
“Thanks to RQMO, I met other people in Quebec who have the same disease,” she says. It is very gratifying to know that we are not alone in going through difficult times and to help others understand the importance of research. ,
This journey that begins with fear and uncertainty and ends with faith and hope is one that DR John Mitchell, a pediatric endocrinologist, has already seen in his work with patients with a rare disease: “The reality is that it can take years for patients to get an explanation for their symptoms. Access has its limits, and despite genetic testing, sometimes we can’t find the cause or the results aren’t clear. However, once found, the diagnosis can give some patients new motivation. Finally We have an explanation and we can start making a plan. »
“With a rare disease, it can be difficult to navigate the health care system,” Dr.R Michelle. And a well-informed patient is a patient who is empowered. These diseases are often misunderstood even by experts. Sometimes there is no cure. Other times there are treatments and remedies available, but they can be extremely difficult to access. “One thing I often do in this situation is to refer families to groups like RQMO. The support of community and patient groups can be very helpful in navigating these difficult diagnoses. »
Building a better world for patients with rare diseases
It is also possible to create positive change in a system that better supports rare disease patients. Once again this year, more than ten years after the RQMO defended the rights of patients, the Government of Quebec unveiled its first official policy on rare diseases, recognizing the contribution of the iRARE centre. “We are very happy,” said Dee.re Ouellette. We are now waiting for the action plan to see what steps the provincial government will take and how much money will be invested in the project. Nothing will happen without budget. ,
There is still a long way to go, but hope and resilience are two qualities that characterize the Quebec rare disease community. Linda retired from teaching because the treatment took its toll, and Loic, now 33, had both kidneys removed and is on dialysis while awaiting a transplant. But despite it all, they supported each other and worked together to provide support to other members of the rare disease community and to raise awareness of VHL disease.
Linda concluded, “We are both facing this disease for three months at a time, never really knowing where it will take us.” The more you know and the more you invest, the better you live. Illness is not the end, it is the beginning of a new way of life. ,
That’s Linda’s message to all Quebecers. If you have recently been diagnosed with a rare disease or are experiencing health issues and are still seeking a diagnosis, there is help waiting for you. You have an inspired community at camp. And there is hope for the future.
Visit rqmo.org for more information, resources and support.
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