The parents of Isaac McFadyen have two choices. They can move to England where a drug to treat their son's rare disease is funded by government -- at a staggering cost of $300,000 to $1-million per patient annually -- or they can stay in Canada and watch him be ravaged by the inherited metabolic disorder.
The two-year-old Ontario boy is already suffering from the effects of Maroteaux-Lamy syndrome: a piece of his skull and a portion of vertebrae in his neck were removed earlier this month after they began compressing his spinal cord. Isaac's corneas are clouding, his forehead protrudes and he has an umbilical hernia.
The only drug available to treat the progressive disease, a medication known by the trade name Naglazyme, is so expensive that even its U.S.-based developer and manufacturer, BioMarin Pharmaceutical Inc., acknowledges no patient can afford it.
"For the average citizen, no matter what country you are in, it's impossible to pay for this out of pocket," Steve Aselage, senior vice-president of global commercial operations for BioMarin, said in an interview from Novato, Calif. "For most of the world, you need the government to step up and pay for the product."
The drug is used to treat mucopolysaccharidosis type VI, or MPS VI for short, a disease so rare it's estimated only three to 10 Canadians have it. In developed countries, there are an estimated 1,100 sufferers, virtually all of whom will experience severe disability and shortened life spans.
In most countries where Naglazyme is licensed, such as those in the European Union, governments cover the drug's cost. In the United States, it is largely funded by private insurance.
But in Canada, there is no policy for "orphan drugs" like Naglazyme -- medications for rare diseases, the incidence of which varies by country -- and no way for people like the McFadyens to afford such costly therapies.
The EU, the United States, Japan, and Australia all have some form of orphan-drug policy. While the U.S. policy doesn't necessarily provide access to rare drugs, it has been successful in providing incentives to pharmaceutical companies to find treatments for rare diseases.
Whether it involves fast-tracking drugs for rare diseases, providing tax incentives for pharmaceutical companies to develop treatments, or extending market exclusivity for drug manufacturers, these countries have found ways to deal with a problem that threatens small numbers of people in the most devastating of ways.
People with MPS VI, for example, are missing an enzyme called arylsulfatase B, needed to break down carbohydrates known as glycosaminoglycans. The carbohydrate builds up in the body's cells and many organs are affected.
Signs of the disease include stunted growth, enlarged tonsils and adenoids that cause breathing problems, poor mobility, and dramatic changes in facial features, including a flat nose and large head. Once sufferers reach their teens, they often require heart-valve surgery.
In England, a national advisory group aims to help health-care providers by assuring a cash flow to support rare and expensive treatments. The group has approved the funding of Naglazyme and a small group of patients recently began receiving weekly intravenous treatments in London and Manchester.
"We hope that at a minimum, it will halt the disease process," said Ed Wraith, consultant pediatrician at Royal Manchester Children's Hospital, where some of the 12 patients in that city have begun treatment. The drug is given for life. Until Naglazyme became available, there was no approved treatment for the disease.
"Canadian patients with rare diseases are the last people in the developed world to gain access to drugs," said Kirsten Harkins, executive director of The Canadian Society for Mucopolysaccharide and Related Diseases Inc.
"There are no clear policy guidelines in terms of licensing or funding them in Canada."
