According to a story from MarketWatch, Annie Wilson was diagnosed with spinal muscular atrophy when she was only six months old. With no real treatment options available, doctors told her parents that she would be fortunate to see her third year of life. Annie is 36 years old now and has survived long enough to see a new therapy for spinal muscular atrophy become available. However, getting access has been a trial in itself.
About Spinal Muscular Atrophy
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
Annie’s Story
Ms. Wilson has difficulty breathing, speaking, and moving her wheelchair. She was initially lead to believe by her doctor that she would be a good candidate for the new drug, called Spinraza, but Kaiser Permanente, the health system where she seeks treatment, started to balk.
Kaiser claims that Annie is too weak to use Spinraza, and claims that there isn’t enough evidence out there indicating that the drug is safe for adults that must rely in ventilators to breathe. The organization also says that treating her could lead to an early death.
Meanwhile, Annie feels as if her own concerns are being ignored, and the denial of treatment feels as if her providers are simply giving up on her. For two years, she has been struggling through the Medicare appeals proceedings in order to be granted access.
In other parts of the country, adult patients in a similar condition to Annie have been treated without any major issues. Joahn Ginsburg, Annie’s patient advocate, claims that Kaiser is already treating other adults with the drug. A team from Stanford University Hospital also recommends that Annie and patients like her should be given Spinraza.
It is likely that the steep price of the drug is playing a role in the hesitation on Kaiser’s part; there are also some insurers who won’t cover the drug for patients that need ventilators. Unfortunately, it is unclear when Wilson will be granted access to the treatment.
