My Continuing Journey Toward Treatment

The U.S. Food and Drug Administration (FDA) recently announced the approval of Zolgensma (onasemnogene abeparvovec-xioi), the first-ever gene therapy to treat SMA. This amazing news has thrilled the SMA community with its possibilities! Zolgensma opens new doors for increased strength, resistance to illness, and longer lifespans.

As only the second SMA treatment to be approved by the FDA, this recent medical breakthrough has inspired me to share my journey toward treatment with the first approved treatment, Spinraza (nusinersen).

Spinraza was like an early Christmas gift for many when it was approved on Dec. 23, 2016. It can be used to treat people of any age with any SMA type. My journey with Spinraza began with many months of debate with my SMA specialist to decide whether I would benefit from receiving it. While Spinraza comes with potential side effects such as back pain, nausea, and severe headaches, I was hopeful for the renewed strength and energy that I could gain from taking it.

A little while later, while en route to the annual Cure SMA Conference at Disney World, my mom got the call that I had been approved for the treatment, and I could receive my first loading dose in August! We were all thrilled and spent much of our time at the conference talking to Biogen representatives and other adults and teens who were already receiving Spinraza.

The day before my appointment, we loaded up in our van and made the journey to Columbus, Ohio. We spent the night so that we would be able to do my morning breathing treatment routine without having to get up extremely early. After checking into our hotel, we spent the evening eating at a popular local restaurant, walking by the river, and listening to a local bagpiper whom we encountered on that peaceful evening. It ended up being an awesome night! Even medical appointments can be opportunities for a fun getaway.

The next morning, we made our way to Nationwide Children’s Hospital. We spent the morning filling out paperwork, doing a therapy evaluation, and talking to hospital staff. Finally, we arrived in the radiology operating room. We were met by a child life specialist, who talked us through the procedure in more detail and offered to chat with me during the process to help distract me. She spoke in calm, soothing tones that helped make a stressful situation a little more peaceful.

Once the room was ready, she took us back and we met with the physician who would be administering the injection. She was an extremely kind woman who, I quickly learned, shares my love of Disney. My mom moved me onto the X-ray table and the machine started to search for the best place along my spine to deliver the medication.

After a few minutes, I started to get a little nervous. Shouldn’t they have found a safe place for the injection by now? Then they pulled the X-ray machine away and turned to my parents. They couldn’t safely do it. Due to my severe lordosis and the bone material and titanium rods placed around my vertebrae during my spinal fusion, my spine was inaccessible.

Honestly, I was heartbroken. I had felt so close to so many new possibilities. In an instant, my body felt numb, and it was as if the room around me shattered like glass. I rarely cry, but in that moment, I couldn’t have stopped myself even if I had tried. Now, the only way for me to receive Spinraza would be to have a hole surgically drilled in my spine to allow access. This is a painful and potentially dangerous procedure that I am not willing to risk due to the high chance of infection.

While I left the hospital that day with teary eyes and a heavy heart, I still have hope that something better will come along. Maybe I’ll even be eligible to receive Zolgensma one day. Either way, I am blessed to get to live in a world that has taken leaps and bounds in the medical field since I was born.

I always thought there would be a treatment for SMA, but I never imagined I’d get to see it in my lifetime. Now I’ve seen not one, but two treatments approved. So far, Spinraza is not the right one for me and I am eagerly waiting to see whether Zolgensma might become a possibility. In the meantime, I’m blessed to get to see the way these treatments are impacting other people’s lives, and I’m completely ecstatic watching their progress while I wait.

***

Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.