By Rosalind Russell – The Annual Espanola Pompe Research Skateathon to raise funds for rare disease research is set for this Saturday.
Kelsey McKechnie’s daughter, Iris Mae, was diagnosed with Pompe Disease, a genetic conditions that requires constant monitoring, infusions and more research.
She says the funds raised from the annual event will go towards more research into Pompe Disease and other rare children conditions.
The event all takes place at the Espanola Regional Recreation Complex all day Saturday and the public is more than welcome to bring their skates, as well as take in the vendors, raffle draws, and more.
She adds the public can also donate online.
McKechnie says there are around 7,000 rare genetic diseases that impacts millions of families with 75% of those affected being children.
McKechnie shared a bit of Iris Mae’s journey.
September 1st, 2021, was the best day of their lives bringing our beautiful daughter Iris Mae into the world, but within weeks, they noticed there were challenges.
Admitted to the “general floor” of Toronto’s Sick Kids Hospital, they met with the neurology, cardiology team, genetics, and metabolic team as well as an ophthalmologist.
They met with almost 50 doctors, nurses, and fellows in a three-day admission.
On December 2nd, 2021, they received a diagnosis for Iris Mae of Pompe Disease.
“Iris inherited two mutated GAA genes from us. Both Alex and I are carriers of Pompe Disease and had no clue of this until after her diagnosis and confirming this through blood tests.”
Iris had hypertrophic cardiomyopathy (now resolved with the help of her weekly infusions) and is closely followed by the cardiology team at SickKids.
Her heart muscle is now the size it should be.
“She does not struggle with any liver complications, breathing, or feeding, although these areas are all being monitored as there are often complications with these areas in Infantile Onset Pompe Disease.”
The journey continues, and the McKechnies, who have expanded their family to include a healthy son, thank everyone for their continued support in researching rare children’s diseases.
For more information and/or to donate online, visit: https://hhsf.akaraisin.com/ui/skateathon2026
Poster provided
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