We’ve come to know that being ‘rare’ isn’t always a good thing
Though well-known diseases are higher priorities, I still embrace our challenges
When I was a kid, still waiting for my diagnosis, I remember overhearing doctors say, “It might be an orphan disease,” “It could be rare,” “This might be a special condition.”
At that time, and even shortly after my diagnosis, I didn’t understand what they meant. I was confident that once they gave my condition a name, I’d finally have answers and a treatment plan. My problems would magically (or chemically, I should say!) disappear.
But reality turned out to be different.
What comes with a rare disease?
We’re used to hearing the word “rare” in a positive sense, as something luxurious, valuable, or unique. When it comes to myasthenia gravis (MG), unfortunately, “rare” means something else entirely.
A rare disease is a complicated disease. Because it doesn’t affect many people, it has less research, fewer specialists, and limited resources.
In Algeria, where I live, having a rare disease also means I won’t be a healthcare priority. Finding my medication can take months of searching, and even then, availability is never guaranteed. A disease can be serious, even life-threatening, but if it’s rare, it gets less attention — no matter how much we need it.
Having MG would have been terrifying for me if the internet didn’t exist. How would I know which symptoms are normal and which are signs of a crisis? How would I have connected with other MG patients around the world, learning from their experiences and gathering the tips that push me forward every day?
In my own neighborhood, I don’t know a single person who’s even heard of MG.
Beyond the medical challenges, I also face the struggle for understanding. How can family, friends, or colleagues truly support me when they’ve never even heard of my disease? How can they relate to something they don’t see, don’t understand, and can’t experience firsthand?
So in the scant hours before Rare Disease Day, I want to highlight a truth that’s often overlooked: Rare can be terrible.
Is there a way to live better while being rare?
For me, the answer is yes.
I’ve learned to embrace the challenge. I find joy in discovering new ways to live, in adapting, and in exploring my passions despite the limitations MG imposes on me.
Having a rare disease also makes me an advocate, whether I planned for it or not. Because my condition is so unknown, people are often curious, which gives me a chance to educate and raise awareness.
By simply talking about MG, I’ve helped two people in my network recognize their own rare disease symptoms and seek a diagnosis. That, to me, is proof that sharing our experiences can make a difference.
Together, we can make rare conditions less rare. We can build stronger communities and ensure that people with rare diseases don’t feel completely alone. By speaking up, we can make our existence more visible and help others understand the daily realities of living with a rare condition.
Will we ever have enough influence to affect medical research? I don’t know. But I hope that one day, rare diseases will become a priority in medicine, and we’ll no longer be overlooked.
Until then, we keep fighting — because even in our rarity, we are not alone.
Note: Myasthenia Gravis News 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 Myasthenia Gravis News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to myasthenia gravis.
About the Author
Jonathan Autore
You are VERY LUCKY to have been finally diagnosed with MG. I live currently in Phoenix Arizona ... where super hot weather is over 100 most of the summer ... and is said, not to be the best temperature for MG patients. To me, being a RARE DISEASE has a totally different meaning.
It took me 8 months, countless doctors, and two hospitals ... till I could finally find an INTELLIGENT MEDICAL PERSON, who was able to diagnose their way out of a paperbag. I was finally diagnosed by very smart, third floor nurse, at my second hospital. She had interacted with couple of MG patients, who had come over from the BARROWS NEUROLOGICAL INSTITUTE next door. She was willing to communicate with me, believed the symptoms that I was having ... and others I wrote down on a paper pad (CLUELESS DOCTORS from the first hospital TRACHED and PEGGED me ... when they could not understand my chewing/swallowing issues and their TOBRAMYCIN gave me 4 months of 100% hearing loss). That terrific, knowledgeable nurse talked to her supervisors, educated them about MG, and got me ... my two NEURO-CONSULTS, six AChR Antibodies tests (all horridly SERO-POSITIVE), and got me an MG diagnosis, my meds, and my first 5 days of IVIG treatments.
Three "NEUROLOGISTS" at the first hospital ... could not diagnose my neurological MG disease ... so they TRACHED, CATHED, and PEGGED me, before sending me ... 23 days later ... to the second of my five 2020 hospitals. So RARE means having a disease, that doctors are too CLUELESS to know about. I also had a CLUELESS eye doctor who recognized my eye PTOSIS ... but did not understand what it meant. But, from talking with other MG ZOOMING SUPPORT Team members, we are finding that newly educated and trained nurses and doctors on rotation, have more up to date KNOWLEDGE and meet a wider variety of patients with every disease under the sun.
So THANKS to you and others ... who are educating MG patients .. so we can be better HEALTH QUARTERBACKS ... to educate and inform ... all the doctors in the world that DO NOT KNOW SHIT ... about a RARE DISEASE.
Sheila Misra
I really appreciate your message. I empathize with you. Right now I'm having to step down from my career in medicine. This really resonated with me: "I’ve learned to embrace the challenge. I find joy in discovering new ways to live, in adapting, and in exploring my passions despite the limitations MG imposes on me." I'm trying to find my joy.
Jonathan D AUTORE
Once again I am finding your articles so true ... and I can not possibly imagine how worse it is in your own country ... with probably fewer doctors ... having to get your RARE DISEASE MYASTHENIA GRAVIS diagnosed. It took me 8 months of Cigna Healthcare and their referrals in the Phoenix Arizona USA region ... as well as a BANNER HOSPITAL and a DIGNITY HEALTHCARE hospital.
I was finally diagnosed by a third floor nurse at the second hospital ... who had met a couple MG patients, who had transferred in from their doctors at the BARROWS NEUROLOGICAL INSTITUTE in Phoenix. OUR JOB ... is to educate as many people, especially the "clueless doctors that we meet that can not diagnose their way out of a paper bag". Instead I have been called tangential or a poor or difficult "historian", because the medical profession did not understand or know about a RARE DISEASE with so many symptoms ... but only one cause and diagnosis. So, keep helping other RARE MG patients, so that with all of us ... and GOOGLING websites .... we can continue to save ourselves and others. As so many of my MG support groups keep saying in our meetings ... to stay alive and in REMISSION, we must be our "OWN HEALTHQUARTERBACK". No one can understand what we are dealing with, if they never heard of MG, and do not know what it means in English ... or any other language. THANKS !!!!
Jonathan D AUTORE
Hello Sheila ... This is Jon. Please don't step down too far away from your medical field. I have been in MG Remission since I left my fifth hospital on Black Friday ... after Thanksgiving on 11-27-2020. I had 100% hearing and speech loss (they could not diagnose me so they TRACHED ME) for 4 months. To get my voice back, I returned to my local Mesa Community College ... to take Music department voice classes to try to restore my voice ... that dumped to a lower voice range, after they damaged my throat. I found my college had a nursing department and a pre med department, so students could get an associate degree, training and work experience toward a higher degree. THEY HAD A STUDENT PRE-MED CLUB, they bring in speakers, they go out on tours to other medical places, and I have found a way to ADVOCATE for MG, and try to tell my fellow students and their advisors about RARE diseases, and how to diagnose/inform others. Even if you have to step down a bit, what you can offer in knowledge to others is STILL SUPER VALUABLE, especially with the medical foundation that you have already had. I have found in my trials with MG, ...that newly minted nurses and new doctors on rotations, have a better, more current knowledge of RARE DISEASES, that my hospital doctors, who have been practicing for over 20 years. As they say, you must start with the young ones first.