Confronting and processing the complexity of a rare disease diagnosis
A rare disease diagnosis can take years, and sometimes it's not black-and-white
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I lived for 19 years before I ever heard the words “myasthenia gravis” (MG). For the next seven years after that, I learned how to live with it, advocate for patients like me, and eventually accept it. Now, I find myself back in a place of uncertainty.
During a recent routine checkup, my self-reactive antibodies that drive this disease unexpectedly disappeared. Suddenly, the diagnosis that had explained so much of my life no longer felt as certain. I found myself asking a question I never expected to ask: How do you live with symptoms that no longer have a label?
Before I was diagnosed, I grew up with symptomatic episodes that no one could explain. I struggled to breathe. My legs would suddenly become weak and numb. Swallowing sometimes felt difficult. By the end of the day, exhaustion hit me so hard that just inhaling felt like work.
Doctors witnessed these episodes firsthand. One even acknowledged that what I was experiencing was real and clearly not psychological. Yet no one had an answer about what was causing it. I remember being told, “Once you find out what this is, come back and tell us.”
As a teenager, I lived with constant confusion. My confidence slowly disappeared. I wondered if I was exaggerating my symptoms or imagining them altogether. I knew that my episodes consistently worsened with fatigue and tended to happen later in the day, but no one seemed to connect the dots. How could a healthy-looking teenager become so exhausted that she struggled to breathe by evening?
Even so, I refused to give up. Every time my symptoms flared, I sought another opinion, another specialist, another hospital. Eventually, I met the doctor who changed everything. As soon as I described feeling strangled and having difficulty swallowing, she mentioned MG.
My antibody test came back positive. For the first time, I had an explanation.
My suffering is real
The diagnosis didn’t change my symptoms, but it did affect how I understood them. It gave me legitimacy. I stopped questioning whether I was imagining everything. I stopped feeling like I had to prove that my suffering was real.
I spent the next seven years learning everything I could about MG. I wrote about it and advocated, and slowly made peace with the fact that chronic illness would be part of my life. Then my antibodies disappeared.
When my doctor raised the possibility that my diagnosis might not be as straightforward as we once believed, I was surprised by my reaction. I wasn’t relieved — I was terrified. I was afraid of losing my explanation, my certainty, and the story I had built around my illness. If it wasn’t MG, then what was it? What did that make me?
After speaking with other patients and reading more about the disease, I realized that uncertainty is more common than I thought. Some people spend years moving between shifting diagnoses. Antibody levels change. Test results evolve. Medicine doesn’t always provide clear answers.
My doctor reminded me that I still have symptoms consistent with MG, and I continue to respond well to Mestinon (pyridostigmine bromide), an oral therapy for MG. But doubt has a way of reopening old wounds.
The hardest part isn’t the possibility of having a different diagnosis. It’s the fear of returning to that frightened teenager who questioned her own reality.
Over the years, I’ve realized that a diagnosis doesn’t determine the severity of suffering. It doesn’t create symptoms, and it doesn’t take them away. The pain, fatigue, fear, and limitations exist regardless of what they’re called. So why do we become so attached to labels?
Maybe it’s because they offer validation. They allow us to stop defending our own experiences and finally say, “This is real.”
I don’t know what the future holds for my diagnosis. But whatever name doctors choose, I know this much: I have lived in this body long enough to trust what it has been telling me. And no change in terminology can take that truth away.
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.
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