As I look forward to Rare Disease Day, it is not lost on me that five short years ago I hadn’t heard of it. When my first LEMS friend, Lisa Rountree, mentioned Rare Disease Day to me, I asked: “What’s that?”
Being diagnosed with a rare disease like Lambert-Eaton myasthenic syndrome — fewer than 1,500 patients have been diagnosed with LEMS in the U.S. — makes me a bit of a superstar in doctors’ offices.
Long before my LEMS diagnosis, I stood out because of my scoliosis surgery. I always agree to let medical students examine me first. The shock on their faces when they see the zipper-like scar that runs the length of my spine always elicits a chuckle from me. One resident exclaimed “Oh, my!” only to be reminded by my rheumatologist, “We don’t say anything when something is shocking.”
Now when I arrive for doctors’ appointments, they almost always have studied up on LEMS. One resident asked me a lot of clarifying questions. When I mentioned that I had the N-type VGCC antibodies, she responded, “And that’s even rarer than LEMS itself, isn’t it?” I was shocked at how educated she was about my rare disease. She told me that my diagnosing neurologist teaches about LEMS on neurology rounds.
Thanks to my writing, I have had the privilege of traveling to various patient meetings. At these meetings, I have realized how fortunate I am to have such great healthcare providers in little Bangor, Maine.
At a recent patient focus panel in Boston, I listened to a half-dozen other patient stories. Some of what I heard included:
“I had my chest cracked open for a thymectomy only to have my thymus removed and find out that there was no tumor. I didn’t have myasthenia gravis, I had LEMS instead.”
“I need more than 50 milligrams of FIRDAPSE a day, but my neurologist won’t prescribe it. I try to space my doses out in the way I can get the best benefit during my day.”
“I’ve been diagnosed with LEMS since 2011 and this is the first time I’ve met another LEMS patient.”
Some LEMS patients I met had comorbid medical conditions that made mine feel like a walk in the park. Juggling feeding tubes, severe gastroparesis, and clotting issues make many LEMS treatment options risky.
Attending patient meetings reminds me of how blessed I am to have a neurologist who allows me to drive my treatment plan. She also educates her residents, leading a new generation of providers who will know LEMS when they meet a patient.
My comorbid conditions are tough, but they are not insurmountable. I thought I had my plate full with five other autoimmune diseases, but I realize that many patients are dealt harder blows.
I am reminded of the loneliness of being diagnosed with LEMS. Some LEMS patients have never meet another one. Meeting someone whose understanding is felt with just a look is beyond comforting. It makes anyone feel less alone.
My career has included public health education, pharmaceutical sales, marketing, and online advertising sales. I’d always wanted to write but never had the time.
Now, my rare disease has brought together all my career paths. I’m becoming a better writer by keeping a weekly publishing schedule, and my column, “LEMme Tell Ya,” gets promoted to a global audience.
“I am who I am today because of the choices I made yesterday.” —
As a child, I could never remember my Grammie Jeanne’s birthday. Every year I seemed to miss it. Come to find out, it was Feb. 29. Rare Disease Day. And she was a professional writer. Being a rare disease columnist apparently is in my genes.
On this Rare Disease Day, I want to make a pledge to newly diagnosed LEMS patients, to those who have multiple conditions, and to those who don’t have providers who listen. I am going to work harder to represent you in the next year.
What makes me rare is that I have a platform to be a voice for LEMS patients. Thank you to the patients I met in Boston for reminding me of how lonely and challenging this journey can be. You’ve got a friend in me.
This column was first published on Lambert-Eaton News.