I was 42 years old. I had a PhD in molecular genetics, had done postdoctoral studies at the Institute of Human Genetics, University of Leuven, Belgium, and was working in a genomics company in the field of gene discovery for complex diseases. It was an exciting field and time in genetics. But I wanted more. I wanted to be in contact with the “real world,” not just work in a laboratory or in front of a computer. Human genetics was my passion, so, in 1999, I decided to try my chance at getting into the Master’s program in Genetic Counselling at McGill University. I have never regretted this change in career path!
The following is an excerpt of the statement of purpose I submitted to the selection committee: “I have had this recurrent desire to be involved in the more applied clinical aspects of genetics: helping people deal with their genetic disease, explaining the how and why, investigating their family history with them, counselling on the available options concerning diagnosis, prevention, and treatment. At this point in my life, I feel that this will be more fulfilling for me than only doing research in genetics.”
Not only have I done this as a genetic counsellor, but during the last 12 years, I have done this through a non-profit organization, the Regroupement québécois des maladies orphelines (RQMO; Quebec Coalition of Orphan Diseases). While I was working as a genetic counsellor at the CHUS in Sherbrooke, I saw how rare disease patients and their families lacked support and resources. I started volunteer work with patient organizations and in 2010, with a small group we founded the RQMO. I was supposed to help only for a year and leave the RQMO to its members. After 12 years, I am still at the head of the RQMO.
With rotations in the McGill hospitals’ various genetic clinics, I had firsthand training in clinical genetics which prepared me well for my career as a genetic counsellor and for my future career in a patient organization.”
I have done everything described in my 1999 statement of purpose, not only through my profession as a genetic counsellor, but also through the RQMO because we set up a Rare Disease Information and Support Centre (our iRARE Centre), the only such centre in Canada. Through this centre, we can help families get the right information about any of the thousands of rare diseases and link them with useful resources in the medical system or with community organizations that can help them in their daily lives.
McGill University played a great part in my path as a genetic counsellor and as the founding president of the RQMO. First the genetic counselling program was everything I wanted as a returning 42-year-old student. With rotations in the McGill hospitals’ various genetic clinics, I had firsthand training in clinical genetics which prepared me well for my career as a genetic counsellor and for my future career in a patient organization. Second, through the years, the RQMO got support from members of McGill’s Department of Human Genetics in setting up projects for the rare disease community (the Orphanet Quebec project, a natural history study and clinical trial for Morquio disease), support in raising awareness about orphan diseases, and support in advocating for access to treatments and policies for the Quebec rare disease community. McGill students also supported the RQMO by giving their time as volunteers.
The other part of the RQMO’s mission was to advocate for a plan or policies for rare diseases in Canada and in Quebec. Our efforts in consulting the rare disease community (and other stakeholders) and advocating for them towards the different governments through the years, finally paid off when, at our request in 2018, the Quebec Ministry of Health and Social Services set up the “Groupe de travail Québécois sur les maladies rares” and, in 2020, the “Comité consultatif québécois pour les maladies rares.” We hope to finally see some concrete actions in 2022.
In my statement of purpose for the McGill Genetic Counselling Program, I also wrote “I want to be 'in the field' when new genetic discoveries and technologies will be applied to the people concerned, that is the patients and their families.” This also came true for me. In the fall of 2021, for the first time, the Quebec government accepted and reimbursed a gene therapy for babies affected by spinal muscular atrophy, a degenerative disease. I was not only witness to this wonderful development, but the RQMO helped the families in advocating for this new treatment. Forty years ago, as a student in molecular genetics, I was naïve enough to think that gene therapy was just around the corner. It is here now, and I am amazed by the speed of discoveries in human genetics!
One last word: through the years, some people have asked me why I was at the head of a patient organization as I am not a patient (and some reproached me for this). No, I am not a patient with a rare disease, but I have listened to many patients and caregivers. I hope that I was a good spokesperson for them and that they can tell when I am wrong. I am 65 years old now and not considering retirement yet from orphan diseases and medical genetics…but probably slowing down.