A 17-year-old classical pianist and martial arts expert’s eyesight hangs in the balance as his mother begs for access to treatment for his rare disease retinitis pigmentosa.
The teenager has a small window of opportunity: the treatment will stop or reverse a form of blindness, but only works if he has a certain amount of vision. They are fighting “like crazy” before he becomes ineligible for treatment and hoping for the government to step in soon.
This is but one of the many stories shared by Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders (CORD). Feb. 28 is Rare Disease Day, and with one in 12 Canadians affected by a rare disease — two-thirds are children — Wong-Rieger talked about the burden felt by patients and families.
“Rare diseases do affect a lot of people. There are between 6,000 and 7,000 rare diseases. Some will affect one in 2,000, some will affect one in a million, some are so rare that we only know maybe two people (affected) in all of Canada,” Wong-Rieger said.
Some well-known rare diseases include cystic fibrosis, hemophilia, sickle cell disease and Tay-Sachs disease. Many rare diseases are genetic due to a misprogramming of a person’s DNA, according to Wong-Rieger.
Fifty per cent of rare diseases are non-spontaneous mutation: like cancer. “There are more people that have a rare disease than all cancer combined,” Wong-Rieger added.
During newborn screenings in Ontario, where babies’ heels get pricked for a blood sample, only 36 rare diseases are tested. “Most children may seem normal, and will reach certain milestones, up until a certain age. Then they don’t progress or lose function,” Wong-Rieger said.
On average, Wong-Rieger said it takes up to four to seven years to get a correct diagnosis for a rare disease, with parents getting from one to 14 misdiagnosis. Sometimes, treatments will make the child worse, or the misdiagnosis delays the treatment and the disease progresses.
Wong-Rieger advises parents to keep a diary of symptoms to show physicians.
“The federal government has promised $1 billion in 2019 to set up a rare disease program. We’re hoping before the end of this year, we will see this program in place and get the therapies available to patients who need them,” she said.
“We want to make sure government is accountable. Canada is far behind than most of the European countries when it comes to (supporting those suffering from) rare diseases,” Wong-Rieger said.
For more information, visit www.raredisorders.ca.