There are over 7,000 known rare diseases and one little Espanola girl’s journey has led to an outpouring of support from the Espanola area.
Grant Lewis, a member of the Espanola Lions club says the club presented $11,000 to fellow member and two-year-old Iris Mae’s grandfather, Andy McKechnie, at a recent meeting.
Iris, the daughter of Alex and Kelsey McKechnie, receives monthly infusions for the treatment of Pompe Disease, a rare genetic condition that affects the body’s ability to break down and process glycogen.
He says the funds were raised through a draw and barbecue.
He adds the McKechnie family also raised another $50,000 through their Skate-a-thon presenting the Research Institute of Sick Kids in Toronto with $61,000 raised from the local area.
Lewis says genome sequencing has made huge advances in the past few years thanks to the collaborating of genome testing results across the country and around the world.
CHEO in Ottawa and Sick Kids in Toronto have launched a “All for One” program.
“It is a “precision health partnership” to gather and sequence all genome testing in Canada. Data has been collected from over 4,000 rare disease patients and families,” explains Lewis.
“This data is then shared to the doctors of anxious families awaiting test results and treatment plans.”
The Research Institute at Sick Kids involves hundreds of scientists and over 1,400 research trainees plus state-of-the-art equipment, all studying rare diseases, adds Lewis.
“The “All for One” program is just one of many ongoing programs bringing vital data together to combat rare diseases.”