Rare disease patients deserve better health care, says teen with MPS

A teenager with a life-threatening rare genetic disorder is urging the Canadian government to make sure everyone with rare diseases receives the treatment they need — not just him.

At five years old, Nicklas Harkins was diagnosed with MPS (mucopolysaccharidoses), a disorder which has left him without an enzyme critical to development and could dramatically shorten his life. 

There is no cure for MPS, but giving patients replacement enzymes can help counteract the disease's effect. Now aged 19, Harkins recalls being the first person in Canada to be treated for MPS, through clinical trials.

"Once I began receiving treatment, my disease stabilized and I was able to continue doing the things I loved to do," Harkins told a panel discussion hosted by the Canadian Organization for Rare Disorders in Vancouver.

As he grew up, he said, he realized not everyone with his disease had access to the treatment he had received and he and his family began campaigning and raising funds to help others suffering from rare diseases.

"I can't imagine what my life would be like now without the treatment I received for the last 12 years," he said.

"I hope that all Canadians with rare disorders can have the same treatment and care as I had, so they can have a chance to live life the best way possible."

1 in 12 Canadians has rare disease

The Canadian Organization for Rare Disorders agrees with Harkins and says Canada urgently needs a national strategy to help people avoid extraordinary and unnecessary barriers to diagnosis and treatment.

"The biggest obstacle is we have 13 different jurisdictions that are doing health care and quite frankly there has not been an overarching national approach," said president and CEO Durhane Wong Rieger.

Federal, provincial and territorial health ministers are meeting in Vancouver to discuss health care this week, starting Wednesday, and advocates for people with rare disorders want their concerns on the agenda.

They note one in 12 Canadians has a rare disease — almost three million people — and two thirds of them are children.

And while disability and death due to illnesses like cancer, heart disease and diabetes have been cut in half over the past 50 years, when it comes to rare disorders, Canada is far behind compared to other countries.

Patients and advocates say it's time to recognize that access to rare disease treatments needs to be part of mainstream healthcare. 

"Where wouldn't a national strategy help me? From diagnosis to access to meeting people, access to treatment. medications. I don't know where to start and where to stop," said patient Tracy York.

"There isn't a single part of my medical background which wouldn't be affected by such a strategy."

Another patient, Mark Williams, said it takes a long time to get diagnosed. 

"Unfortunately it isn't a black and white disease where the symptoms are "A" means "B" so it takes a long time to get diagnosed and a lot of frustration going through that process."

In a message to Canadian health ministers, their call is for timely, quality care — regardless of the disease.