Piercing Fears, Embracing Hope: My Qalsody Lumbar Puncture Experience

Michelle Francis, Individual Living with ALS

“Are you on tofersen? The drug works specifically for people with SOD1-ALS.” “Tofersen is going through FDA approval now, but you should try to get into an extended access program (EAP).” I didn’t know at the time, but those words from a speaker and a clinician at the 2022 NEALS ALS conference would take me on a life-changing journey to receiving this revolutionary drug and facing one of my greatest fears… a lumbar puncture.

My ALS diagnosis came in June 2019, but my story with Qalsody™ (tofersen), initially called BIIB067, began a year later. I attend the ALS multidisciplinary clinic at UW Health University Hospital in Madison, Wisconsin, where my primary neurologist, Dr. Andrew Waclawik, is at the forefront of clinical trials and medical advances in ALS treatment. He informed me about a prospective drug for people with SOD1-ALS, knowing that I had familial ALS with a SOD1 mutation.

As I researched the drug, I found that the closest clinic still accepting participants for the clinical trial was in Cleveland, OH. Although I went through a couple of interviews, I wasn’t accepted because they had enough participants with slow-moving SOD1-ALS. Despite my strong desire to be in the trial and start using the drug, I was somewhat relieved when they told me I was not accepted because I discovered the drug could only be administered through a lumbar puncture. The fear of this procedure overshadowed my eagerness for a potentially life-changing treatment.

However, at the NEALS conference, I met several people who reignited my interest in tofersen. Although I didn’t qualify for the clinical trial, I learned about the possibility of receiving the drug through an expanded access program (EAP). Yet, the lingering concern remained: “Did they find another administration route during the trial?” Unfortunately, they hadn’t. It still required a lumbar puncture every other week for the first three doses and then once a month for an undetermined period. Moreover, the hospitals running tofersen EAPs were either too far away or had waiting lists. These two things, unavailability and the route of administration, cast a shadow of fear on my journey to accessing this treatment.

After six months, UW Health University Hospital in Madison initiated a tofersen EAP, a significant achievement thanks to the hard work of my neurologist, his associate Dr. Collin Kreple, the people at Biogen drug company, and the numerous ALS advocates providing guidance and support. This was a bittersweet moment. I was thrilled because this drug addressed the primary cause of my ALS. Also, I had heard stories of ALS progression slowing down, halting, and even partially reversing during the clinical trials, open-label extensions (OLE), and EAPs. The obstacle of availability was finally surmounted, but the fear of the administration persisted.

The horror stories about lumbar punctures and epidurals, with people undergoing multiple punctures before finding the right spot or enduring unbearable pain from thick needles, haunted my thoughts. The possibility of paralysis, meningitis, and spinal headaches loomed over me. Nonetheless, I chose to proceed with the procedure. With ALS, the risk of paralysis was already present, so I decided to take the chance in pursuit of recovery and making a difference. By receiving these shots, I could share hope and a viable treatment option with relatives facing SOD1-ALS and assure them that the risks are minimal compared to the potential benefits.

In April 2023, four days before tofersen/Qalsody received accelerated approval from the FDA, I received my first tofersen shot under the expanded access program. My neurologist and the nursing staff at UW Health University Hospital were exceptional. I discovered that not only was I the first patient at UW to undergo this treatment, but also the first in the state of Wisconsin.

Let me reiterate that fear and imagination can transform anything into a monster. I soon realized that the lumbar puncture procedure was not as terrifying as I had anticipated. Dr. Kreple is an experienced neurologist who had worked at a facility in St. Louis, Missouri, where a tofersen clinical trial took place. He was familiar with the medication and the procedure, which made the procedure run smoothly. The injection site for drawing spinal fluid and administering the medicine was lower than my spinal cord, reducing the risk of paralysis. Additionally, using a thin needle and removing an amount of spinal fluid equal to the amount of injected medicine greatly minimized the chances of spinal headaches. The most discomfort I experienced was when the doctor administered lidocaine through a needle in my back. It felt like a shot in the arm followed by a brief burning sensation. After that, I hardly felt a thing. The most challenging part was getting on and off the bed due to my limited mobility. However, the staff assisted me using a transfer board and their stand and assist machine. Contrary to my fears, sitting still in a fetal position on the side of the bed for about 15 minutes was manageable. I was monitored for about an hour after the procedure while lying in bed.

Although availability and route of administration were no longer an issue for me, a few bumps developed along the way, but were quickly conquered. Initially, transportation was a concern, as UW is 70 miles from my home, and I can no longer drive. However, family and friends have been generous enough to take me to the appointments, for which I am deeply grateful. I also worried about the affordability of the drug once it received FDA approval. Fortunately, the hospital, drug company, insurance providers, and foundations are working together to ensure that the drug will be affordable so I can continue to take this treatment.

By the time you read this article, I will have undergone six lumbar punctures. I believe there will be more ALS clinical trials and drugs involving lumbar punctures in the future. Many drugs that could treat ALS may not be able to cross the blood-brain barrier and may require administration through spinal fluid to be effective. I would not change my decision for anything. After three months, my neurofilament levels decreased by 50%, a promising sign in ALS treatment and progression monitoring.

I am glad that I did not allow the fear of a lumbar puncture to deter me from trying this revolutionary drug. My hope is that if other family members are told they have the SOD1 mutation, I can tell them that the drug can halt the onset of the disease or slow down, stop, or even reverse its progression. They will know that the drug is worth trying because I took it without experiencing any painful side effects and, more importantly, it has become a big part of my healing process. Because I took the leap to overcome the route of administration obstacle, I can say that lumbar punctures are no longer a piercing fear for me but a pathway to hope and recovery.