Thank you, Madam Chair.
My name is Micheil Innes and it is an honour to address the committee today.
I'm a medical geneticist practising at the Alberta Children's Hospital in Calgary and at the University of Calgary. I'm also the national coordinator for Orphanet Canada, which I will discuss.
Today, I would like to emphasize the importance of securing an accurate diagnosis for all patients and families with rare diseases, with the goal of improving their health and wellness, as well as the current barriers that exist to achieving this goal.
As you have likely already heard, a rare disease is defined as one that affects one person out of 2,000. There are over 7,000 known rare diseases, which affect an estimated one in 12 Canadians. A disproportionate number of the nearly three million Canadians affected with rare diseases are children. As such, rare diseases affect a significant proportion of Canadian families. Most, but not all, rare diseases are genetic. Individuals with rare diseases suffer increased morbidity and mortality. As many as 30% of infants with a genetic disorder die in their first year of life. Children with rare diseases have more hospital admissions, with longer and more costly stays. This trend continues into adulthood, as older patients with rare diseases also have a disproportionate number of hospital admissions and costs. Hospital costs are only one factor to consider, as both outpatient medical and non-medical costs are also significant for the patient, their families, and the extended community. Patients with a rare disease face significant challenges, ranging from receiving a correct diagnosis to the availability of treatment and care.