Open this photo in gallery Erin Little applies eye drops for her daughter Olivia, in their Port Elgin home on Nov. 21, 2018. Olivia is taking Cystagon to treat her cystinosis, which is a disease that causes cystine, an amino acid, to accumulate in various organs in the body. Fred Lum/The Globe and Mail

From the time she was diagnosed with an ultrarare metabolic disorder as a toddler, Olivia Little has relied on prescription eye drops to keep the disease from destroying her eyesight.

The nine-year-old Ontario girl’s drops used to be made at a hospital pharmacy and a special pharmacy in Quebec at a cost of, at most, a few thousand dollars a year.

But those pharmacies are no longer supposed to concoct the drops in-house, now that Health Canada has approved an Italian pharmaceutical company’s application to sell an official version that Olivia’s parents cannot hope to afford.

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The sticker price: $103,272 for a year’s worth of eye drops.

The Little family’s plight is, in some ways, typical for the one in 12 Canadians who suffers from a rare disease. As more and more high-priced drugs for niche illnesses arrive on the Canadian market, patients are often caught between cost-conscious governments or workplace drug plans, and pharmaceutical companies trying to wring as much profit as possible from a tiny pool of patients.

But in another way, the Little family’s dilemma – and the dilemma of an estimated 100 other Canadians with Olivia’s disease, cystinosis – is unique because this is the second time in less than two years that a pharmaceutical company has taken an old, inexpensive drug for their illness, tweaked the formula and launched the new version in Canada at an astonishingly high price. In both cases, the arrival of the new drug has made the old one difficult or impossible to get.

“I have no plan,” Erin Little, Olivia’s mother, said of what she will do when Olivia’s supply of the old drops runs out in a few weeks. “She goes without eye drops. Nobody can afford this.”

Olivia’s drops prevent crystals from building up in her eyes; left unchecked, the crystals cause a painful sensitivity to light that could progress to blindness if Olivia were to go years without treatment.

Cystinosis is a genetic disorder that, if left untreated, causes an amino acid called cystine to accumulate in lethal amounts in organs, beginning with the kidneys.

Cystinosis patients take two main drugs to combat the disease: Oral cysteamine bitartrate, which prevents cystine crystals from building up inside the body, and cysteamine eye drops, which keep the eyes clear of crystals.

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For decades, there was no Health Canada-approved version of either medication because no pharmaceutical company had applied to sell them here. With so few patients, profits seemed unlikely.

But Canadians were still able to get both drugs. They obtained the oral version through the federal Special Access Programme – which allows doctors to apply to import drugs licensed elsewhere for patients with life-threatening illnesses – at a cost of about $5,000 a year per patient.

They obtained the eye drops from compounding pharmacies, which have the equipment and expertise to make drugs from scratch.

However, if Health Canada approves an official version of a drug, then both back doors – the Special Access Programme and the compounding route – are supposed to be closed.

Milan-based Recordati Rare Diseases Inc. and the pan-Canadian Pharmaceutical Alliance (pCPA), which negotiates drug-pricing deals on behalf of the provinces and territories, are in talks about the cost of Cystadrops, the cysteamine eye drops that Health Canada approved this year.

Paul McCabe, the vice-president and general manager of Recordati Rare Diseases Canada, said he could not comment on how the company decided on the sticker price for Cystadrops because of the continuing talks with the pCPA.

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However, he said by e-mail that Cystadrops, which are more viscous and last longer in the eye than the drops made at compounding pharmacies, “will provide great relief to families and patients who now will only have to administer eye drops a maximum of [four] times a day.”

The Canadian Agency for Drugs and Technologies in Health, which advises governments on covering the cost of new medications, said Cystadrops should be covered, but only if Recordati slashes the price by 80 per cent or more.

In the case of oral cysteamine bitartrate, Dublin-based Horizon Pharma secured Health Canada approval in 2017 for a delayed-release version of the pill, which the company calls Procysbi.

Horizon launched Procysbi in Canada at a list price of nearly $325,000 a year for an average-weight adult, prompting the federal government’s drug-pricing regulator to accuse the company of charging an “excessive” price. Horizon disputes the allegations.

Ms. Little successfully fought to keep her daughter on the old version, even though all provincial governments have now agreed to pay for Procysbi after sealing a confidential discount deal with Horizon.

No such deal has yet been reached for Cystadrops.

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"It’s very, very expensive. It’s difficult to justify, really,” said Julian Midgley, a pediatric nephrologist who treats cystinosis patients at Alberta Children’s Hospital, where the pharmacy recently stopped its decades-old practice of making eye drops.

In Alberta, the government’s short-term exceptional access program has agreed to cover Cystadrops until a deal can be reached with the drug company.

“You can argue, ‘There’s not many patients,’ " Dr. Midgley said. “Well, we’ve probably just signed off on a million dollars-worth a year of eye drops … for the first 10 patients."

In Ontario, where Olivia lives, there is no stop-gap option for public coverage of Cystadrops.

At least one hospital in the province, Toronto’s Hospital for Sick Children, is continuing to make the drops for its patients, despite Health Canada and the pharmacy profession generally advising that pharmacies stop compounding a drug once a commercial alternative is available.

The hospital wants to make sure a vital treatment is not interrupted, SickKids spokeswoman Jessamine Luck said.

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The Little family’s hospital, London Health Sciences Centre, has already stopped making the drops and can no longer order them from a compounding pharmacy in Quebec, which is now steering patients to Cystadrops.

Guido Filler, the division chief of pediatric nephrology at LHSC, said the cystinosis families he cares for are worried about the last of their compounded eye drops running out.

“It puts us really in a bind as treating physicians,” Dr. Filler said. "We need to provide [patients] with adequate medication and we should be grateful that there are companies taking that up. But it’s going to add to the cost spiral, and it will make health care, sooner or later, unaffordable.”

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