British Columbia

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

Like many parents, Meredith Essex eagerly watched her baby daughter grow and develop but one day noticed something wasn’t quite right: nine-month-old was Natalie wasn't bearing weight with her legs.

'It was the most horrific feeling just watching her totally deteriorate,' says mother

Natalie Essex, now four, was about 18 months old when she was diagnosed with spinal muscular atrophy Type 2. (Meredith Essex)

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

But one day, she noticed 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 then a 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 drug Spinraza to treat spinal muscular atrophy.

Stories like Natalie's — and the approval from Health Canada — gave other families hope too.

Since starting the clinical trial of Spinraza, Natalie's condition has improved, her mother said. She now can do therapeutic riding and is able to sit up on a horse that's walking. (Meredith Essex)

Not for everyone

But that hope has hit 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 price at US $750,000 per patient for the first year.

The Canadian Agency for Drugs and Technologies in Health (CADTH) analyzes the costs-benefits of medications to advise provinces and territories on whether to fund them.

A month ago, CADTH agreed that the drug should be covered — but not for everyone. 

Only a small subset of patients who have spinal muscular atrophy Type 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 Spinraza is efficient, safe or cost-effective outside those parameters, said the agency's president, Dr. Brian O'Rourke. 

Children like Natalie, who were diagnosed with a form other than Type 1 after age seven 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 demonstrate Spinraza's effectiveness in other types of disease states.

The Essex family: Meredith (left), infant Quinn (centre), Andrew (upper right) and Natalie (right). (Meredith Essex)

Dashed hopes

Durhone Wong Reider, president of the Canadian Organization for Rare Disorders, said the current way of looking at evidence surrounding Spinraza's effectiveness 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.

The council, an independent advisory body, makes recommendations to the ministry about what drugs should be listed for coverage under PharmaCare. 

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