Hopes raised, hopes dashed: treatment for rare disease only covered for some patients

Like mostparents, Meredith Essex eagerly watched her baby daughter grow and develop.

But one day, shenoticed nine-month-old was Natalie wasn't bearing weight with her legs.

Months later,when she was about a year-and-a-half old, Natalie was diagnosed with spinal muscular atrophy Type 2.

"She was having trouble raising her arms above her head at that point," Essex told CBC's Michelle Eliot.

Spinal muscular atrophy affects the part of the nervous system that controls muscle movement. Children with the rare genetic disorder have severe physical challenges that can limit their ability to walk, sit up, eat or even breathe.

"There was nothing we could do," Essex said. "It was the most horrific feeling just watching her totally deteriorate."

Natalie's condition worsened, but thena new treatment offered hope.

Essex got her daughter into an early clinical trial of the drug Spinraza when she was two and said she noticed an immediate difference.

"She started rolling again, she was weight-bearing with her arms, she was able to crawl," Essex said.

Last year, Health Canada approved the use of the drugSpinrazato treat spinal muscular atrophy.

Stories like Natalie's and the approval from Health Canada gave other familieshope too.

Not for everyone

But that hope hashit a major snag.

The cost of the drug is very high, as can be the case with treatments for rare diseases. In the U.S., the company that makes the drug,Biogen,has submitted the priceat US $750,000 per patient for the first year.

TheCanadian Agency for Drugs andTechnologiesin Health(CADTH) analyzesthe costs-benefits ofmedications to advise provinces and territories on whether to fund them.

A month ago, CADTHagreed that the drug should becovered but not for everyone.

Only a small subset of patients who have spinal muscular atrophyType 1 the most severe form of the disease and who are diagnosed before they turn seven months,should be covered, the agency recommended.

A clinical trial showed insufficient evidence that Spinrazaisefficient, safe or cost-effective outside thoseparameters,said the agency's president, Dr. BrianO'Rourke.

Children like Natalie, whowere diagnosedwith a form other than Type 1 after ageseven months,will not have access to publicly-funded treatment.

"I understand the anxiety, the hope, the fear of parents who have this very challenging disease," said O'Rourke. "That's why our recommendation was to approve it where the data demonstrated effectiveness."

He said he hopes more evidence will come forward to demonstrateSpinraza'seffectiveness in other types of disease states.

Dashed hopes

Durhone Wong Reider, president of the Canadian Organization for Rare Disorders, said the current way of looking at evidence surrounding Spinraza'seffectiveness is too narrow.

"It also really disregards the fact that this is the only therapy available for a patient population that has a very debilitating condition, and without any other kinds of treatment available," she said.

For families like the Essexs, the hope is that the provincial government will step in to negotiate coverage for all patients with spinal muscular atrophy, regardless of the type.

Spinraza is currently under review by B.C.'s Drug Benefit Council, the Health Ministry told CBC in a statement.

Thecouncil, an independent advisory body,makesrecommendations to the ministry about what drugs should be listed for coverage underPharmaCare.

For now, Natalie can continue the treatment because she's in a clinical trial. In five years, when the trial is up, her access to the drug will end under the current decision.

With files from Michelle Eliot and On The Coast.