Northern Ontario mom trying to raise awareness, hope for families dealing with rare diseases

CBC

28-01-2025

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Three-and-a-half year old Iris McKechnie is doing things doctors told her parents she might never do.
She loves bouncing on her indoor trampoline, then turns to her toy dogs, firmly commanding them to sit and stay.
Then she is up and running again.
Her mother, Kelsey, living in Espanola, about 40 minutes west of Sudbury, welcomes all the activity because Iris has a rare, life-long disease which needs weekly treatment in hospital.
And doctors told Kelsey that her daughter might not survive infancy.
Pompe a rare disease in Canada
Iris was diagnosed with Pompe disease at three months old, one of only a handful of children in Canada to have it.
McKechnie says she and her husband were shocked, and went through various stages of grief.
"We were told that she may not walk, that we don't know if she'll talk," said McKechnie. "We don't know how she's going to feed for the rest of her life. And right now she's walking, talking and climbing and jumping, doing all the things that every other three-and-a-half year old would be doing. And we can't be happier for that early diagnosis because it means everything."
What doctors found after testing Iris for dozens of rare diseases, is that she lacks an enzyme that allows her to process glycogen, which affects neuromuscular development.
Her parents are carriers of the gene, and together, they unknowingly passed the disease onto their daughter.
Iris now gets weekly enzyme replacement treatment that last for five hours, and will likely have to have the treatment for the rest of her life.
Kelsey said Iris appears normal, but does struggle some days, however, she feels Pompe does not define her daughter.
"There's so much more to Iris," she said, as her little girl flipped through videos on her phone. "She enjoys her friends, she plays outside, she loves boating, she enjoys different sports and activities."
McKechnie says the experience with her daughter has been eye-opening and she is working to connect people and educate them.
"It's really important for us to raise awareness about Pompe disease as well as all the rare diseases that exist out there," she said.
"Before we became part of the rare disease community, my husband and I had no idea about the number of them that exist and also how many that are going undiagnosed within Canada, and are so under-researched and don't really have a cure or treatment."
McKechnie has held two fundraisers for rare disease research since Iris was born.
This year, she's holding a skate-a-thon February 22 in Espanola to raise money for the McMaster Children's Hospital Pompe Disease Research Fund in hope that some day Iris may be able to get treatment at home, or possibly find a cure.