Ewing sarcoma: Son’s diagnosis leads family to raise awareness of rare cancer

Reid Pernica was 17 years old when he was diagnosed with Ewing sarcoma.  He had endured ankle pain for a couple of years but then it worsened.  Tumours were eventually discovered in his ankle, sinus cavity, rib cavity and pelvis.

“We were waiting for next sentence ‘but there’s a cure’ – but that next sentence didn’t come,” his mom, Tina Pernica, said.

Ewing sarcoma is a rare cancer that strikes 1 out of 500,000 people under the age of 19.

“There’s no known cause for Ewing sarcoma.  It can happen anywhere in the body head to toe.  Mostly bone but can happen in soft tissue,” said Dr. Abha Gupta, an oncologist at SickKids Hospital in Toronto.

Tweet This Click to share quote on Twitter: "There's no known cause for Ewing sarcoma.  It can happen anywhere in the body head to toe.  Mostly bone but can happen in soft tissue," said Dr. Abha Gupta, an oncologist at SickKids Hospital in Toronto.

At the time of Pernica’s diagnosis, information about Ewing sarcoma was hard to find.

“It was frustrating, really frustrating.  There was no information out there.  There was nothing we could find, no one we could talk to who had Ewings or knew someone who had Ewing’s.”

Reid wanted to find a way to raise awareness and that led to the start of The Ewings Cancer Foundation of Canada.

“We’re creating awareness and we’re helping other families,” said Tina.

Tweet This Click to share quote on Twitter: "We're creating awareness and we're helping other families," said Tina.

The foundation is also raising much needed money for research and since its inception in 2009 organizers and volunteers have raised more than a $250,000.

The latest project is underway at SickKids where researchers are using new technology to sequence the genome of Ewing sarcoma.

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“We know cancers are caused by specific mutations that are present in their genomes, before we could look at one mutation specifically now we can look at the entire landscape of mutations, “ said Dr. Adam Schlien, the associate director of Translational Genetics at SickKids.  “Once we’ve completed the entire map of Ewing sarcoma we should be able to dig much deeper into patients’ subtyping.”

“That means that patient might be able to be eligible for a treatment they wouldn’t have known about otherwise.”

Doctors say money raised by the foundation is sorely needed.

“There’s very few labs in North America that are dedicated to researching Ewing sarcoma.  That’s  why Tina’s foundation is so important, because it’s raising money specifically for research in Ewing’s sarcoma,” said Gupta, “ I think dedicated research funding for rare diseases is important in general.”

Reid passed away on November 25, 2007.

“It was tough.  It was really hard to let him go and let him be at peace.  And he had lived a full life in such a short time,” said Tina.

Tweet This Click to share quote on Twitter: "It was tough.  It was really hard to let him go and let him be at peace.  And he had lived a full life in such a short time," said Tina.

Reid’s legacy lives on and it is one she believes he would be proud of.

“He’d be thrilled to know that there’s research actually happening and that Ewing sarcoma is now under the microscope here in Canada and he was a true Canadian.”