News

When Szymon Cajmer was six years old, he was denied entry into a clinical trial to test the only drug to treat his rare disease because his lungs worked too well. Now 11, he suffers from severe hearing loss and he easily loses his breath.

The drug he did not qualify to receive years ago – idursulfase – has since been approved by Health Canada to treat his disease, called Hunter syndrome. But now, Szymon can't obtain the enzyme replacement therapy for a different reason: Though it is funded in British Columbia and Alberta, it is not in Ontario.

At a cost of about $400,000 a year, the intravenous medicine, known by the trade name Elaprase, is utterly unaffordable for Szymon's family without government funding.

So he continues to deteriorate, with spleen and liver enlargement, carpal tunnel syndrome, damaged heart valves. His joints are so stiff, even the simplest of acts – putting on a hat – escapes him.

“It really changes the prognosis,” Justyna Cajmer said of her son, a Grade 4 pupil. “Because it's a progressive disease, it [the drug] is the only hope for us to pursue.”

Canada's lack of an orphan drug policy – to treat orphan, or rare, diseases – and the unequal access to medications for these diseases is what North Vancouver Liberal MP Don Bell is hoping to change when he introduces a private member's motion today in the House of Commons.

The motion seeks a definition for rare disorders, the possible creation of a fund to improve access to rare-disease treatments and the consideration of options to encourage research and development.

Orphan drugs are exorbitantly expensive, largely because of the small numbers of patients who require them.

For that reason, evaluating clinical trial evidence is also challenging.

Yet society is faced with this question: Can a drug, perhaps the only primary treatment, be denied to patients if it can help?

The private member's motion also seeks an internationally accepted standard to evaluate clinical trial evidence.

Without a new standard, drugs for rare diseases are far less likely to be approved for provincial government funding.

“It's important to have the government commit to a course of action and acknowledge that there's a problem,” said Mr. Bell, who has been working with Conservative Party MP Steven Fletcher, parliamentary secretary to Health Minister Tony Clement, on revisions to the motion.

Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, described today's motion as a “huge step.”

“This would commit the House to doing something,” she said.

The European Union, the United States, Japan and Australia all have orphan drug policies.

Though the U.S. policy does not necessarily provide access to rare drugs, it has been successful in providing incentives to pharmaceutical companies to find treatments for rare diseases.

Britain has one of the best models for orphan drug funding. A national advisory group aims to help health-care providers by assuring a cash flow to support rare and expensive treatments.

The drug Szymon requires is funded in Britain; about 45 patients are on it, according to Ed Wraith, consultant pediatrician at Royal Manchester Children's Hospital.

Though Elaprase does not cure Hunter syndrome, a progressive disease, it has been shown to improve some outcomes in patients, such as lengthening walking distance.

Joe Clarke, senior associate scientist in the Hospital for Sick Children's Research Institute, who treats Szymon, said some patients feel better on the drug and have shown improvement in long-standing complications, such as better airways, joint mobility and energy.

Szymon, who lives in Tecumseh, east of Windsor, would be “an ideal candidate for enzyme replacement therapy if enzyme replacement therapy was demonstrated as effective as we hope it is,” Dr. Clarke said of the treatment, in a telephone interview.

The therapy involves a weekly intravenous infusion, which takes about three hours.

Whether taxpayers should finance such drugs is a particularly troubling ethical issue.

“Most of us, and that includes any government official I've been involved with, want very desperately to find a way to help patients in a way that is fair and effective,” said Dr. Clarke, who is also a clinical professor in the University of Sherbrooke's faculty of medicine.

Ontario Health Ministry spokesman John Yoannou said the Committee to Evaluate Drugs recommended in June of 2007 that Elaprase not be funded under Ontario's Public Drug Programs. He pointed out that the Common Drug Review, a national body, has also recommended against funding the drug.

According to that federal government decision in December of 2007, Elaprase's high cost – $657,000 annually for a patient weighing 77 pounds – was not justified given the “lack of evidence of improvement in clinically important outcomes.”

Mr. Yoannou wrote in an e-mail that the government has limited public funds to pay for all treatments and “decisions are made based on clinically relevant evidence. In the case of Elaprase, there is insufficient evidence and large gaps in information.”

Laurel Ostfield, press secretary to Ontario Health Minister George Smitherman, said the ministry is developing a new and innovative approach to how drugs for rare diseases are reviewed.

“We will take into consideration any information emanating from the proposed federal legislation as part of this review,” Ms. Ostfield wrote in an e-mail.

Paul McCabe, managing director for Canada of Shire Human Genetic Therapies Inc. – the drug's manufacturer – said Elaprase is approved in about 30 countries. More than 20 of those countries pay for the drug, be it through private insurance or government funding, he said.

“These are degenerative diseases, patients are deteriorating slowly every day,” said Mr. McCabe, noting that the disease is so rare only 20 Canadian patients would be eligible to take the drug.

He described Szymon's situation as tragic, adding that “if he lived in B.C. or Alberta, he probably would have been treated for over a year now.”

The disease, known medically as mucopolysaccharidosis II, occurs when the breakdown of a chemical widely distributed in the body outside of cells is defective. That chemical builds up and causes problems in the form of a large skull, coarse facial features, joint trouble, abnormal function of multiple organs and, in particular, heart-valve problems.

For Szymon, it means coming to grips with not being able to do everything his peers can. He loves playing soccer, though he becomes breathless quickly. And like every child, he has dreams of what he wants to do when he grows up, though even his dream – repairing hearing aids for children – is coloured by his disease.

“It never goes away. You live with it moment by moment,” said Ms. Cajmer, his mother, a registered nurse.

“We feel very much like we have been left out.”