Heather Beach swings her four-year-old son, Silas, through the air 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
Stephen James suffers from symptoms that are as extreme as they are rare: food cravings that compel him to take bolt cutters to the kitchen pantry that his parents have locked, or even a screwdriver to a padlocked freezer.
His eating compulsion is due to Prader-Willi syndrome, which is caused by a gene missing on part of chromosome 15. Morbid obesity is one of its biggest medical challenges and many of those with the syndrome - at least 300 in Canada - have diminished muscle tone and decreased mental capacity, with sex glands that produce little or no hormones. Most will not be able to live independently.
There is also a financial vulnerability, especially in a country where there is no federal policy or funding for these uncommon ailments. Orphan medicine - treatment for a life-threatening or chronically debilitating rare condition - cost the James's private health insurer $50,000 annually, while treatments for other diseases can cost up to $1-million a year. It is a precarious place for wealthy and modest families alike.
When Stephen's father lost his job as a financial adviser, he also lost his benefits, which has left his son without a required growth hormone for six months and counting. Since being off the medication, the 26-year-old has gained 10 pounds, suffered intensified food cravings and left his parents worried sick about how to get a drug for him they cannot afford.
"It's a full-time job raising a child with Prader-Willi syndrome," said his mother, Susan James of Brantford, Ont. "And Canada is so far behind other countries."
A national orphan-drug policy has fallen between provincial and federal cracks, leaving Canada as one of the few developed countries without a plan. The cost might be a deterrent, but the number of Canadians with rare diseases is relatively low. The drug bills consume about .07 per cent of all public money spent on pharmaceuticals, according to Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders. Compare that to the Netherlands at 2 per cent or France at 2.5 per cent.
Though the argument over rare diseases often comes down to money, the issue is not necessarily defined by the estimated $82-million Canadians spend annually on orphan drugs. Instead, it might be a question about how the country protects its most vulnerable citizens.
"We're probably the worst of the developed countries," Ms. Wong-Rieger said. "Even the little bit we've done is not very well implemented."
With no national plan, obtaining treatment is "hit and miss," she said. "We have to fight for one patient at a time. We have no policy, no framework."
And yet other countries - Japan, Australia, the United States and the European Union - have found ways to deal with orphan diseases. In the United Kingdom, a licensed therapy and a diagnosis is usually enough to qualify patients for fully funded drugs.
These countries have found ways to deal with problems that threaten small numbers of people in devastating ways. Some fast-track drugs for rare diseases, while others extend market exclusivity to pharmaceutical manufacturers or provide tax incentives for drug companies to generate new treatments.
The core of the issue is the rarity of the disease: The fewer the number of the affected, the less likely there will be a clinical trial study to prove a drug's effectiveness. And most drug manufacturers aiming to generate blockbuster products to treat large numbers of patients do not find orphan drugs especially attractive.
Cost-effectiveness - one of the items that determines whether a drug is covered - is also difficult, as conventional criteria don't work. The drugs are exorbitantly expensive, some costing more than half-million dollars a year.
A key component of an orphan drug plan, say experts, would include a commitment to evaluate patients through registries where clinical data is collected. That way, the drug's effectiveness and side effects could be studied as they go along.
With no national policy, the provinces are left to find their own way.
Of all the provinces, Alberta and Ontario are the furthest along; Alberta funds treatments for rare diseases that in some cases, can run up to $1-million annually.
Ontario is leading a national framework to develop consistent, evidence-based approaches to evaluating drug therapies for rare diseases.
"These diseases are so rare that in a country our size, we really do all have to be working together to put the best collective intelligence on the assessment," said Diane McArthur, executive officer of the Ontario Public Drug Programs.
In the case of Stephen James, who has Prader-Willi syndrome, his mother is planning to put him through the necessary testing to see if he qualifies for the growth hormone to be funded by the Ontario government.
"You expect to be settled at this age and not have these worries," said Ms. James.
Even defining rare diseases is not agreed upon. The Canadian Organization for Rare Disorders say it's 1 in 2,000; Alberta defines it as fewer than 1 in 50,000. Ontario's working definition of rare is 1 in 100,000 to 1 in 150,000.
In the case of Prader-Willi syndrome, it is estimated to afflict roughly 1 in 22,000 births, said Jean-Pierre Chanoine, division head of endocrinology and diabetes at BC Children's Hospital.
These rare diseases which are often genetic can be so overwhelming, there seems no hope. When treatments do exist, they are not magic bullets, but ways to halt the disease progression or quell its symptoms.
Dr. Chanoine pointed out that doctors cannot fix a problem caused by a genetic condition. "You cannot replace the gene or modify it to make the condition to disappear," he said, adding that treatment often involves helping patients cope with their condition.
The growth hormone helps children grow, increases muscle mass and controls obesity, but can be extraordinarily expensive, often because it is required for a lifetime.
Heather Beach estimates costs at about $15,000 a year for her son, Silas Bumstead, who turns five in June. He receives the drug at no cost through a pharmaceutical company's compassionate care program.
Her son has chosen to receive the drug while asleep, so every night, she sneaks into his bedroom, where she grabs the fleshy part of his thigh, jabs it with a needle full of growth hormone and then prays he doesn't wake screaming.
"We feel very lucky, but we feel it's very tenuous," Ms. Beach said in a telephone interview from Vancouver. "They [the drug company]could at any time decide to not cover us."
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Definition: What is rare?
Orphan diseases are rare, and agreement on a definition among countries or even provinces is equally unique. Here is the range of medical opinion on the numbers of patients involved.
The Canadian Organization for Rare Disorders: 1 in 2,000
Alberta: fewer than one in 50,000 people or fewer than 50
Ontario: ranges from 1 per 100,000 to 1 in 150,000
United Kingdom: fewer than 5 per 10,000
United States: fewer than 5 per 10,000
Australia: fewer than 2,000
Japan: fewer than 50,000
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Most common orphan diseases, by population
Guillain-Barre syndrome (50 in 100,000)
Melanoma, familial (50 in 100,000)
Autism, genetic types (45 in 100,000)
Scleroderma (40 in 100,000)
Focal dystonia (30 in 100,000)
Marfan syndrome (30 in 100,000)
Non-Hodgkin malignant lymphoma (30 in 100,000)
Retinitis pigmentosa (28 in 100,000)
Gelineau disease (26 in 100,000)
Myeloma, multiple (25 in 100,000)
Alpha-1 antitrypsin deficiency (25 in 100,000)
Diaphragmatic hernia, congenital (25 in 100,000)
Juvenile arthritis, idiopathic (25 in 100,000)
Neurofibromatosis type 1 (25 in 100,000)
Charcot-Marie-Tooth disease (25 in 100,000)
Polycystic kidney disease, recessive type (23 in 100,000)
Fragile X syndrome (14 in 100,000)
Primary biliary cirrhosis (14 in 100,000)
Tuberous sclerosis (9 in 100,000)
Source: Orpha.net