MPP wants to keep patients from falling through the cracks

If you've never heard of atypical hemolytic-uremic syndrome, or phenylketonuria, you're probably not alone.

Both are rare diseases that only affect a small fraction of Ontarians.

But because they are so rare, diagnosis for people who have these diseases can take years, and treatment – if there is any – is often not covered by drug plans, meaning the cost can reach the tens, or even hundreds of thousands of dollars.

Kitchener-Conestoga MPP Michael Harris has heard hundreds of stories from individuals with rare diseases and their families since he started public office in 2011.

“There's clearly an issue with access and treatment for those who suffer from a rare disease,” he said during a visit to Sudbury on Monday.

Harris is touring Ontario ahead Feb. 25, when he will propose a private member's motion at Queen's Park to create a select committee that would review the co-ordination and funding for rare disease treatment in Ontario.

The committee would include six members of the Liberal government, two members from the Progressive Conservative opposition, which would include Harris, and one NDP MPP.

The committee would travel the province to hear from patients, their families and medical experts, and make recommendations to improve treatment.

The committee's first goal would be to define what a rare disease is. Some definitions say they must affect one in 5,000 people, or fewer, but a clear definition would be needed for any legislative changes.

Other issues would include improvements to physician training. Many doctors don't immediately recognize a rare disease, or misdiagnose patients, because they don't encounter many of the diseases in their training.

The committee could also help build a provincial strategy for research and development, to development treatments and cures.

Coverage for life-saving drugs would also need to be investigated.

“I think what Mr. Harris is doing is wonderful. I think it should have been done years ago,” said Brenda Cunningham, who was diagnosed with Alpha-1, a rare genetic condition that can lead to severe lung disease or liver disease. “We do need to be treated the same as someone who has a more recognizable disease.”

Cunningham said she believes Alpha-1 contributed to her chronic obstructive pulmonary disorder later in life.

“I presented with emphysema in my early 30s,” she said.

Cunningham was put on oxygen in her 40s, and is now 67.

She said efforts to diagnose Alpha-1 and other rare diseases early in childhood could help people make more informed choices, and possibly avoid costly medical complications.

Harris said his motion is intended to be bipartisan, and confirmed Nickel Belt MPP France Gélinas said she will vote in favour of it.