Northern Ontario skating event raises tens of thousands dollars for rare disease

Rare Disease Day Skate-A-thon in Espanola Leading up to Rare Disease Day on Feb. 28, the Skate-a-thon event was held Saturday in support of an Espanola baby with a rare disease.

Tens of thousands of dollars were raised in support of research and awareness of a rare disease Saturday.

Leading up to Rare Disease Day on Feb. 28, a Skate-a-thon event, was held in support of an Espanola baby with a rare disease.

The Skate-a-thon was created by Kelsey and Alex McKechnie, in honour of their one-and-a-half-year-old daughter, Iris Mae.

Iris was diagnosed with Infantile Onset Pompe disease, which affects one in 100,000 births.

“Iris is approximately the 12th baby in Canada with Infantile Onset Pompe disease,” says Kelsey McKechnie.

The progressive disease affects the muscular, skeletal and cardiovascular systems. Kelsey said a doctor happened to notice symptoms in Iris, which led to testing and then a diagnosis.

She said Iris was having difficulties with muscular movements and keeping her head up, but they didn’t think much of it at the time.

“We’re first-time parents, so we didn’t really notice anything,” she said.

“We thought it was normal.”

In November 2022, McKechnies contacted the Espanola Lions Club requesting their help in organizing Saturday’s event.

Lions Club member, Grant Lewis was a former teacher of Kelsey and Alex.

Lewis told CTV News that without question he wanted to help.

“I said ‘Kelsey, I can speak on behalf of the club. We will help however we can,’” said Lewis.

He said the community rallied to support the event, including dozens of volunteers who have dedicated their time.

“This is a little community with a big heart,” Lewis said.

He said they decided to organize the event and donate the proceeds to the Canadians Organization for Rare Diseases and Duke University.

Duke University, based out of North Carolina, has dedicated research to finding a cure for Pompe disease.

Kelsey said the goal of the event is to raise money, but to also raise awareness of the rarity of the disease.

She told CTV News because the disease is so rare, there’s less support.

“I am part of a Facebook group for moms about Pompe disease, and I think there’s about 300 of us and that’s worldwide.”

The event held at Espanola Recreational Track and Field site included an outdoor bbq & hot beverages, fire pits, raffle, family games and a children’s craft table.

The Skate-a-thon raised more than $45,000, more than tripple its original goal of $15,000.

Alex said he is grateful for the support from the community.

“The community really came together for this,” he said.

“It’s amazing.”

The McKechnies said they plan to make this an annual event.

Details of how to donate to the event can be found here.