MY GENE-THERAPY JOURNEY
At 23-years-old, a doctor told me I had what he described as a few good years left and I was terrified.
Months after planning my own funeral and grieving my declining abilities, I watched as the first treatment for SMA was approved in the United States. It was a new sense of hope. A treatment finally existed for my once untreatable terminal diagnosis and the advocacy flame within me ignited. One year after those in the US had access to treatment, Health Canada approved Spinraza but only recommended the government provide it to those 12 and under.
I wanted this treatment so bad. I didn’t care that it was administered through a spinal injection because pain had been part of my life for as long as I could remember, but this pain has the potential to save my life. If I wanted this treatment it meant that I had to believe my life was worth $60,000. At the time, I didn’t meet any criteria for funding and nobody in Canada was actually receiving funded access to the drug. I had to believe that I deserved this treatment and the chance of a longer, healthier life. It terrified me because I knew I would have to be vulnerable and ask for help, but mostly because I knew I had the power to turn my story into something that could change the lives of people with SMA around the country just by sharing my story and advocating. I knew that this medication would not only save my life but bring awareness to the only available treatment for SMA and I hoped I could make it not only possible to receive the treatment and have the government fund it, but also to prove its effectiveness in adults as there was no clinical data on its impact treating adults with SMA.
I took the plunge with the convincing of my best friend and started sharing my story about the treatment that was held out of reach for the SMA community. I shared intimate details of my life and my condition with the media and social media and people started paying attention. I gained momentum and met face to face with government officials both provincially and federally to explain why this treatment so desperately needed to be funded. I flew to Ottawa to meet with members of parliament and attended marches for accessible rare disease drugs while also travelling to attend every conference I could in order to arm myself with the latest research and data around Spinraza and better understand the drug approval and funding process. I looked into legal avenues and I raised my voice. As this was all going on I was in university full time and volunteering for multiple organizations. I was exhausted, but walking alongside me in my fight was my support system. This along with the support of people I had never met, kept me moving forward.
My community raised enough for my first dose of Spinraza, but then began a fight with the healthcare system to administer the medication and a stubborn Pharmaceutical company to directly sell me a dose. I added meetings with the heads of Alberta Health Services and Neurology while researching private radiology clinics to my routine. I cried in so many of those meetings crushed by the weight of my fight and the toll I saw SMA having on my body every day while a treatment existed. There were so many days when I wanted to give up and didn’t believe that I would ever convince the doctors and government that I and everyone suffering from this disease deserved treatment. There were many days that I’d end my day crying to my best friend out of fear, doubt and vulnerability overload but she never let me stop believing that I deserved that treatment. That everyone with SMA deserved that treatment.
At a conference in Ottawa, I learned of a funded clinical trial for another promising treatment. This one is less invasive and more cost-effective but the only catch was that I needed a dose of Spinraza to qualify. With the promise of a long-term solution, if they administered the dose of Spinraza, my first dose was finally booked. The first attempt was unsuccessful and painful. It was traumatic yet something I had to share with the thousands of supporters who had been following my story and were waiting to hear the news. Despite never wanting to think about the long hour and multiple needles being pressed against my spine ever again, I felt I had to continue to share the details as though I owed it to each person who had donated to make it possible. I was booked to come back and try again a week later and finally, the 5mls of magic entered my body.
You’d think this is the ending but the curveballs continued. A week after finally receiving that dose I was told that the criteria for the clinical trial had been finalized and a minimum of four doses of Spinraza were required to be completed 6 months prior to beginning the trial. I couldn’t stop now. There was still so much uncertainty around whether adults with SMA would ever receive funding for Spinraza, so the fundraising continued, my family took out loans and I kept advocating. I would now need $240,000 in order to purchase enough Spinraza to meet the criteria for the government to fund enough doses for me to access a free treatment that was guaranteed for five years. The fight continued, and the curveballs continued.
The hospital didn’t want to administer three more doses and the pharmaceutical company didn’t want to sell me any more doses after dose #1. Then the pharmaceutical company removed the compassionate pricing program after my second dose which brought the cost from $60,000 per dose to $120,000 per dose. While fighting to purchase the drug at a somewhat feasible price, the clinical trial informed me they weren’t sure they could save my spot in the trial which had only 10 openings and needed to get started. It was the most stressful time in my life but it was worth it.
We got there and today I have had four doses of Spinraza and am now two years into a clinical trial healthier and stronger than I have been in years. I say we because I could never have fought so hard alone. It was the hardest fight I fought but the most rewarding by far. Today Spinraza still isn’t available for all but because of our advocacy over half of the SMA population in Canada is receiving Spinraza and we won’t stop until all can access this life-saving medicine.
For more information on the story, you can check out: https://www.theglobeandmail.com/amp/canada/article-cracks-in-the-system-without-a-national-pharmacare-strategy-who-is/
