People with rare diseases march to Parliament Hill to mark Rare Disease Day

Marking rare disease day The tough task of focusing attention and dollars on rare diseases.

On the rarest of days, Feb. 29, organizers are marking and celebrating Rare Disease Day.

Rare illnesses affect one in every 12 Canadians, according to the CORD the Canadian Organization for Rare Disorders.

CORD is celebrating the launch of the Canadian Rare Disease Network, a new organization to help Canadians with rare diseases.

Joanne Paquette, is a 60-year-old Ottawa resident, and has lived with a rare bone disease, known as Ollier's Disease since birth. "Back when I was diagnosed, the ratio was one in a million. So, we had no answers. Amputation was the answer," she tells CTV News Ottawa.

She's one of many participating in a two-day summit, sharing her story, raising awareness, and hoping for change. Participants marched to Parliament Hill Thursday morning.

"The government promised $1.4 billion and the rare disease, you know, community needs it for medications, life saving medication," she said.

Patients and advocates say $1.4 billion in federal funds for rare disease drugs was promised nearly a year ago,

"Definitely not trickling down, not even a slow drip. And that is so frustrating because promises don't save lives," says conference participant Beth Vanstone.

Vanstone's daughter, Madi, was diagnosed with cystic fibrosis at just eight months of age.

"I was projected to get a lung transplant at the age of 15, and because I got put on my medication, I'm here today and I'm 22," says Madi Vanstone.

She knows first-hand the importance of having access to the right treatment and medication.

"I'm very fortunate, but I've watched a lot of my friends pass away. It is very progressive and aggressive disease and that's what scares me the most; as you see other patients struggling and passing away and there are medications that are available."

Participants at the summit say treatment and hope has come a long way for some.

"My earliest memories are of seeing folks with walkers, wheelchairs, crutches, looking in very, very rough shape," says Meghan White, who was diagnosed with Gaucher disease at just two years old, "and then, every time we had an annual conference learning that one of them had passed away and it's just not like that anymore, thank goodness."