My diagnostic journey with a rare neuromuscular disease: Myasthenia Gravis

It took me six long years to finally receive a diagnosis. At first, my symptoms were mild and came and went with periods of complete remission. I had often blurry vision, especially towards the end of the day, and I experienced extreme dry eyes. I went to many appointments with various ophthalmologists, but it was difficult to get a proper diagnosis for a condition that fluctuated so much. As time passed, my symptoms worsened, and I started to notice a pattern: whenever I was tired or fatigued, my symptoms would intensify. I also had difficulty swallowing water, and it would sometimes come out of my nose. One day, I couldn't ride my bike without having to stop after just a few meters.

Despite all my symptoms, no one could understand what was happening to me. My symptoms were invisible, and I was often dismissed. Anxiety and stress were considered to be the reasons for my symptoms, and even a neurologist tried to find an explanation by digging into my personal life, assuming that being 35 years old, married for a couple of years, and childless was the valid explanation for everything. Another dead end.

Then, in the summer of 2020, a visible symptom appeared: a droopy eyelid. I went to an ophthalmologist, who thought it was a palsy and prescribed a dietary supplement and drops for my dry eye. But it didn't work, and my symptoms only got worse. My ophthalmologist referred me to a neurologist who prescribed a limited and short-term treatment that worked temporarily. But after the second round, my symptoms returned. I was then tested for MG, but the blood work came back negative.

I was then caught in a cycle between a neurologist who thought I had a problem with my eye and an ophthalmologist who insisted it was neurological.

Finally, I found a neurologist specializing in neuromuscular disease and MG. He listened to my previous medical history and all the symptoms I had experienced over the years. He decided to wait and see if it was ocular MG, and when I started experiencing other symptoms like weakness in my arm and difficulty chewing, he properly tested me for MG. Unfortunately, due to COVID-19, the tests were done later than expected, and I experienced a bad exacerbation, which led to a diagnosis of seronegative Myasthenia Gravis in January 2022.

It was a long and frustrating journey to finally receive a diagnosis, but I'm grateful for the neurologist who listened to me and was able to help me. I hope that by sharing my story, others who are experiencing similar symptoms can find the help they need and receive a proper diagnosis sooner.