by Lisa Remsikova, AWC Antwerp
“I think you have myasthenia gravis. There is a blood test you need to get upstairs at LabCorp.”
Off I went to get my blood drawn, unable to see well enough to drive, and with the hospital just a few blocks down the street anyway, I walked home. I Googled “What is myasthenia gravis?” on my phone... struggling to read... closing an eye... looking sideways... trying everything. Deciding to delay this attempt until after carefully navigating the empty intersection, I read the results:
“MG is a rare, neuromuscular, autoimmune disorder causing fluctuating and extreme fatigue and profound muscle weakness, impacting the ability to see, swallow, talk, smile, walk, breathe, or engage in activities of daily living. It is a chronic condition that can affect all voluntary muscles. The severity can vary from mild ocular symptoms to a life-threatening myasthenic crisis. The disease has no cure.”
Oh my. I wonder how this is going to go.
Just a week earlier, in March 2021, I began to feel like I had tendonitis everywhere and wondered if I was overdoing my COVID-19 lockdown workouts. As a former professional athlete, I was used to training for fun and for sport. Bored with resting at home, my husband and I ventured out for a typical American drive... remember when the roads were empty? Entering the highway, I saw (as a passenger) the few cars on the road were vertically stacked. I immediately booked an appointment with my GP.
MRIs ruled out MS, and a referral to an ophthalmologist soon followed. Within a week, I developed constant double vision – unable to read, watch TV, pour a glass of water or walk the dog. Recalling that half-page in his medical school textbooks, this young doctor in his new office quietly said, “I think you have myasthenia gravis.”
With a positive ACHR (acetylcholine receptor) antibody test confirming MG, I had no idea how intensely my life, and the lives of those around me, would change. I also had no idea how lucky I was to get a correct diagnosis, later learning that rare diseases like MG usually take years to properly diagnose. Within weeks, my muscle function deteriorated to where I was unable to stand without help, had difficulty breathing, chewing, swallowing, talking, and needed constant help with activities of daily living. I was constantly out of breath, even at rest. Without much experience beyond sports injuries, combined with my usual “tough it out” athlete mentality, I had no idea how dangerous my situation was.
Treatment followed with pyridostigmine, which helps muscles temporarily fire, and high-dose steroids. While my vision improved immediately, I couldn't hold utensils or roll over in bed, much less stand up. More aggressive treatments followed, including several rounds of IVIG (plasma infusions) and thymectomy, surgery to remove the thymus gland, which, predominantly in childhood, produces antibodies. Thymectomy can offer equal chances of improvement, worsening, or no change, with results shown about 2–5 years after surgery. A difficult decision for optional surgery – less so when one is running out of options. What a strange disease. Several more rounds of post-op IVIG did nothing to alleviate my symptoms. My case was deemed severe and refractory (treatment-resistant), and I was in danger of a myasthenic crisis.
A crisis can be triggered by surgery, infection, stress, or a change in medication, and treatment requires intubation, plasmapheresis (plasma exchange) and a lengthy hospital stay. Needless to say, a seasonal illness or common infection takes on an entirely new level of concern. The onset of a myasthenic crisis often includes difficulty speaking, facial muscle weakness, impaired mobility and, of course, difficulty breathing. In medical school, many doctors are taught the old saying, “When you hear hoof beats, think horses, not zebras,” meaning that doctors should first consider the most likely possibility when diagnosing. Unfortunately, MG is a zebra, and an MG crisis is often misdiagnosed as a panic attack, since the patient is struggling to breathe even though O2 levels look normal... until they don’t... because the patient is actually suffocating from CO2, being unable to exhale efficiently due to neuromuscular weakness. Realizing I needed an emergency plan, I got my specialists’ home phone numbers so they could call an ER in advance, learned which hospitals knew how to treat me, and educated local first responders with resources from the Myasthenia Gravis Foundation of America (MGFA). I prepared a notebook with copies of insurance cards, lists of doctors and medications, emergency contacts, legal documents for consent to treat, medical directives, privacy consents and lists of contraindicated drugs, which, unfortunately, include most antibiotics.
Luckily, several new, life-saving biologic infusion drugs have come onto the market to help treat patients with severe, refractory disease. By the summer of 2021, I began infusions of eculizumab, a biologic monoclonal antibody, and the biggest MG drug breakthrough (2017) in more than 50 years. Before these medical advances, patients with severe disease often died from neuromuscular failure, and MG took many, including David Niven and Aristotle Onassis. I also started Cellcept – an immunosuppressant and steroid-sparing agent used for organ transplant patients but off-label for MG. My pulmonologist/hospitalist prescribed a bi-pap and oxygen for sleeping, giving my diaphragm muscles a chance to rest to compensate for my shallow, ineffective breathing. I had months of visits from physical and occupational therapists to learn how to navigate my new world with a powerchair and to make some home renovation decisions. Occasionally, I could walk a few hundred feet with my rollator, and even though I was still out of breath and needing rest, these were improvements.
I also realized my medical treatments were all-consuming, and I needed to get back to the things I enjoyed and could still physically manage. Unable to travel, I reconnected with my long-lost Dutch language studies through online courses brimming with interesting, international students, and compassionate, enthusiastic teachers. I also continued my volunteer experience with my sorority, supporting me further with the kindest mentors and their unwavering assistance. While actual travel seemed impossible and risky, I planned fabulous trips with maps and books in my living room.
The following summer, I started ravulizumab, the new, longer-acting version of eculizumab, and began my year-long steroid taper. At this point, I was drinking my coffee from a toddler-style sippy cup because my hands shook so severely from the muscle loss and steroids, and I was really hoping the taper would be successful. Long-term steroid use causes bone loss, cataracts, and steroid-induced glaucoma, among other problems, so I made sure to have bone density scans and see my dentist frequently for checkups. My ophthalmologist confirmed I had steroid-induced glaucoma and cataracts, so we started treatment, and a year later, I was certainly happy to be done with steroids and also to have my port removed.
In 2024, I started a new infusion, efgartigimod alfa, from a Belgian company. The day after my first infusion, I could feel all my muscles firing. Yes, they were weakened from three years of atrophy, but they were responding. Today, a few weeks later, I am working to regain lost muscle mass at physical therapy, and some days, I can even walk a few thousand steps. While stairs are currently off-limits, I am hopeful for future improvements so I can navigate the charming nooks and crannies throughout Europe’s old towns. I am also finally driving short distances and am beyond thrilled to regain some independence. While pursuing the sports I have always enjoyed seems currently unattainable, I am looking forward to different adventures. Every MG patient presents and responds to treatment differently, and though I am still unsure how long this drug will work for me, I am inspired by the emerging advancements in the clinical trial pipeline. For now, I view this as my “Golden Ticket” and am excited to take full advantage of this opportunity while I can!
Lisa Remsikova is a former professional figure skater, coach, and US Champion; Vail Resorts’ ski instructor; clay shooting sports enthusiast; amateur polo player; and recipient of Delta Delta Delta’s Brave, Bold, and Kind Volunteer Service Award.
Image from Canva.com