A 17-year-old classical pianist and martial arts expert鈥檚 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 鈥渓ike crazy鈥� 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 鈥� two-thirds are children 鈥� Wong-Rieger talked about the burden felt by patients and families.
鈥淩are 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,鈥� 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鈥檚 DNA, according to Wong-Rieger.
Fifty per cent of rare diseases are non-spontaneous mutation: like cancer. 鈥淭here are more people that have a rare disease than all cancer combined,鈥� Wong-Rieger added.
During newborn screenings in Ontario, where babies鈥� heels get pricked for a blood sample, only 36 rare diseases are tested. 鈥淢ost children may seem normal, and will reach certain milestones, up until a certain age. Then they don鈥檛 progress or lose function,鈥� 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.
鈥淭he federal government has promised $1 billion in 2019 to set up a rare disease program. We鈥檙e hoping before the end of this year, we will see this program in place and get the therapies available to patients who need them,鈥� she said.
鈥淲e 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,鈥� Wong-Rieger said.
For more information, visit www.raredisorders.ca.
