A new expensive drug is finally available for her rare disease – but she has been fighting for two years to get it.

When Annie Wilson was only six months old, she was diagnosed with spinal muscular atrophy, a rare condition that causes progressive muscle weakness and impaired movement – and announced that she would not live after the age of 3 years.

More than 30 years later, the first treatment for his disease has been approved by Biogen Inc.

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and Ionis Pharmaceuticals Inc.

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Spinraza.

Spinraza drew attention for its innovative character, but also its high price: up to $ 750,000 the first year and $ 375,000 the following year.

At the time of approval, Wilson had trouble breathing, talking and even driving his wheelchair and was excited about the prospect of the new treatment.

Her doctor, who works for the California-based Kaiser Permanente Health System, first told her that she was a good candidate and that she was too weak and that she should come back later, Wilson told MarketWatch.

Wilson challenged Kaiser's decision through a Medicare appeal process. Still, the two-year battle was exhausting, Wilson told MarketWatch in an email. She suspects that stress is affecting her health and has even considered giving up.

"I did not want to die fighting for a drug that would stop the progression of my illness," said Wilson. "I feel as if, by denying someone, it was as if Kaiser was saying that your life mattered little to us, but that the dollar was well worth it."

"If I had to have Spinraza, I was not expecting a miracle," she says. "That's what I'm trying to stop the progression of my illness. Preserving the little movement I have left is essential for my quality of life. "

Annie Wilson

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Kaiser has "tremendous empathy" for Wilson and asks him for help and care, but "we can not recommend a treatment that puts a patient at risk and has no clinical studies demonstrating its effectiveness for the patient, "Dr. Sameer Awsare, associate. Executive Director of the Permanent Medical Group, said in a statement.

"To date, no clinical study has shown that Spinraza was effective in adults with ventilator-dependent spinal muscular atrophy, and there were significant, even fatal, risks in some cases."

More and more drugs for rare diseases have been approved in recent years, but Wilson's experience is a tangle of complications that can drive patients away from promising but expensive treatments.

Related: Why health insurers will not cover this rare disease drug at $ 300,000 a year

According to the SMA Foundation, approximately 10,000 to 25,000 people in the United States have SMA, a hereditary disease. Biogen estimates that the majority of the total population, about 60%, are adults.

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Spinraza was approved in late 2016 for children and adults, but some health-care insurers – including Kaiser – were reluctant to cover adults because clinical trials that got Spinraza's approval did not had tested that in the child.

Joahn Ginsberg, Wilson's Patient Advocate, is now treating more patients with ADS, including Spinraza.

"They have to treat her, and they have to pay for this treatment because that's what she pays every month in Medicare," said Ginsberg.

However, guidelines vary and large health care insurers like UnitedHealthcare

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and Cigna Corp.

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have policies that do not cover people who require extended use of fans. Price, in particular, is a key factor influencing access restrictions to Spinraza, perhaps because, for a rare disease, ADM is relatively common.

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But adults with ADS are still treated in the United States, including those who use ventilators.

Stanford University Hospital, for example, treated 32 adults in mid-2018, 22 of whom were unable to walk, and three of whom received ventilatory support, and no serious side effects or medical problems. The neuromuscular team sent Wilson's doctor to Kaiser earlier this year.

The Stanford team also recommended that "the treatment of [Annie] with Spinraza is reasonable and it would be beneficial to stop the progression of the disease and improve the existing function, "according to the letter.

Biogen has sought to expand the use in adults, estimating to have reached about 15% of adult patients by the end of October, against about half of infants and children.

A spokesperson told MarketWatch that Spinraza "has demonstrated significant and clinically meaningful efficacy … across a wide range of ADM populations."

We believe that a large number of untreated adult patients could benefit from Spinraza, "said Jeffrey Capello, CFO of Biogen, during a conference call late October.

But questions about the price tag, the patient population and the side effects are likely to stay, and for Wilson, time is of the essence.

"Will it cure miraculously his SMA? No, said Ginsberg. "But do we think that can help it? Yes."