Heather Beach with her four-year-old son, Silas, near their home in Vancouver March 25, 2011. Silas has Prader-Willi syndrome which is a congenital disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones.John Lehmann/The Globe and Mail
The United Kingdom is heralded for its comprehensive way of treating orphan diseases, where it has a system of evaluating and funding drugs for rare conditions.
"In most situations where there is a licensed therapy, most patients will eventually get the drug once they have a confirmed diagnosis," said Alastair Kent, director of Genetic Alliance UK, a national charity of patient organizations supporting those affected by genetic disorders.
Prader-Willi syndrome is a good example: Patients have been obtaining growth hormone for almost nine years after the National Institute for Health and Clinical Excellence ruled in favour of it, saying it was a "clinically and cost-effective way to treat children with growth hormone deficiency."
Compare that to Canada, where patients struggle to obtain the drug: They go without the growth hormone, try to get it funded through their work health plans, or apply to receive it at no cost under compassionate grounds from pharmaceutical companies. In Ontario, for example, patients can undergo tests to see if they qualify for provincial funding.
What is universal is that few can afford to pay for the growth hormone out of pocket, where it can cost up to $50,000 for an adolescent.
In the UK, there are different routes to funding rare diseases, defined there as affecting fewer than 5 out of 10,000 people.
If the National Institute for Health and Clinical Excellence (NICE), part of the National Health Service, which provides guidance on clinical and cost-effectiveness of medicines, rules in favour of the drug, it must be funded. However, NICE can only consider a limited number of drugs each year, so it does not rule on every pharmaceutical that comes to market.
If a drug is deemed ultra orphan - that is, occurring in fewer than 5 per 10,000 - then it will be funded by the Advisory Group for National Specialised Services.
The primary trusts, which fund the health services for populations 250,000 to 1 million, can also choose to fund a medication.
No matter the route, the drugs are government funded with no co-payments to patients.
Recommendations to fund these licensed medicines are made after being carefully studied and having agreed upon clinical protocols created by doctors who treat the rare disease or condition.
One downside is finding that physician who can provide a definitive diagnosis and get treatment rolling.
"They may have to wait a long time to get a diagnosis," said Mr. Kent. "And may then have to wait and see a knowledgeable clinician."