On June 18th, Christiane Hope and Susan Hone gave a 40-minute presentation on Barth syndrome entitled From Tears and Fears to Hope and Advocacy at the Canadian Human and Statistical Genetics Meeting/GE3LS HSPR* Conference 2019 in Montebello, Quebec.
We were invited to speak by Chris McMaster, PhD, FCAHS, Scientific Director, Canadian Institute of Health Research (CIHR) Institute of Genetics and Professor of Pharmacology, Dalhousie University. Dr McMaster has attended two Barth Syndrome Scientific, Medical and Family Conferences and has been a seven-time research grant recipient from Barth Syndrome Foundation.
Conference features included advocacy groups and individuals telling their stories of living with a rare disease; the Clinical Implementation of Genomics/Genetics session; the Health Policy Research and Rare Disease session; and a Health Canada Workshop where we could participate in discussions on the key considerations Health Canada should consider for the development of a regulatory sandbox and how they can ensure that Canadian interests are balanced. We made connections with other rare disease organizations, talked with researchers about the importance of their work and had doctors tell us that they had heard of and tested individuals for Barth syndrome but hadn’t ever met a patient with Barth.
The three days went by quickly and we came home with a list of websites to check into further and new contacts to help us promote Barth syndrome.
*Genomics and its Ethical, Environmental, Economic, Legal, and Social Aspects; Health Services & Policy Research