Access to treatment is an issue for patients across the world, especially for those with rare diseases. Laurie Young, who was diagnosed with type 2 spinal muscular atrophy (SMA) at two years old, knows this from personal experience. She has battled with health ministers and others for years to access treatments like Spinraza, which was not covered in her home of Edmonton, Canada. Now, risdiplam is finally offering hope.
Laurie’s Story
Laurie was diagnosed with type 2 SMA, the slower-progressing form of the disease, at age two. She is now 52 and has spent years of her life trying to access treatments for her condition. Spinraza was not available to her, as it was not covered in Edmonton. Because it comes with a hefty price tag of over $700,000 for just the first year, Laurie could not pay for it on her own.
In an effort to take down this barrier to access, Laurie reached out to health ministers, filed a human rights complaint, and even considered moving to a different area of Canada that provided coverage.
Thankfully, she was accepted to a compassion program for risdiplam. She’s been on the treatment for two months now, and she can already feel its effects. In fact, she raised a coffee cup to her mouth for the first time in years. She’s also relieved that she knows her disease will not progress any further.
Looking Forward
Now, risdiplam has been approved by Health Canada, meaning that each province now has to decide who qualifies for the therapy. The drug is under review right now, with final decisions expected in the fall.
In the end, Laurie and other patients just don’t want to be forgotten. She is concerned that older patients will especially be left out.
Unfortunately, Laurie’s situation is not unique. The president of the Canadian Organization for Rare Disorders, Durhane Wong-Reiger, points out how these instances expose a flaw in Canada’s healthcare system. She said,
“The travesty of the Canadian health-care system is that it’s a wonderful system if you don’t need anything that’s out of the ordinary,”
About SMA
SMA is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity. A mutated SMN1 gene causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head. The symptoms of this condition depend on the severity and type of SMA.
Type I is the most severe and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing. Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking. Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently. Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors.
Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA-approved treatment for SMA, and Zolgensma and Evrysdi have also recently been approved.
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