The process of getting a myasthenia gravis (MG) diagnosis can be a long, challenging journey, like trying to navigate a thick jungle alone without a compass. Most rare disease patients have symptoms for years and have seen many specialists by the time they receive their diagnosis. It is important that patients with confusing symptoms who do not have obvious answers still get support and guidance as they are seeking a diagnosis.
My MG symptoms were at first generalized. I noticed I was having difficulty walking and breathing. It was challenging to get take in enough breath to speak to the classes I was teaching. I could no longer walk around campus and had to drive between classrooms. I had intense fatigue.
I had been diagnosed with postural orthostatic tachycardia syndrome (POTS) a couple of years before this. I kept telling myself it must be related to that, or I was just overly tired. I had just started my first tenure-track professor position. But every day was becoming more of a crisis.
I tried to talk to my doctors about my symptoms, but those symptoms baffled them. In fact, the first medical professional I told I was having difficulty walking, at age 33, laughed. It is difficult to fathom someone that age imagining those symptoms. I did not tell my doctors I was having trouble breathing. I did not think anyone would believe me, and I was not sure how to communicate what I was experiencing.
Read more about therapies for myasthenia gravis
During my POTS diagnosis, before the MG symptoms started, I was told, “it was only in my head.” With these new symptoms, I was experiencing being dismissed all over again. I just kept searching and trying to find answers, but I felt continually abandoned by so many medical professionals.
Many rare disease patients spend years going through the “the specialist shuffle” and being hindered by fragmented care. We often go through years of tests that do not lead anywhere, or we are dismissed and then passed off to other specialists, or we get misdiagnosed. My symptoms were already severe by the time I got my MG diagnosis. My husband and I had to travel many miles to see the specialist who diagnosed me, and I had to do several rounds of challenging diagnostic testing for years.
I needed much more support during that diagnostic process. My husband and I were dealing with how quickly my condition was declining, and I had to resign from my job. It was an emotionally and financially taxing time for us. Trying to figure out how to navigate the medical system and getting support, documentation, access to treatment, etc, as I was going from a possible MG diagnosis to a defined MG diagnosis was very challenging, and we were trying to figure it out on our own. I look back on those years of trying to get a diagnosis and realize how little knowledge and support we had. That contributed to the length of time it took to get a diagnosis.
It has been about 7 years since my diagnosis, and we know much more now. I have learned that my experience is common for people with rare diseases. Patients need support inside and outside of the exam room. They need support from doctors even if a patients’ symptoms are outside of their expertise, and a rare disease becomes a potential diagnosis. They need help knowing what steps are necessary to obtain a diagnosis for complex symptoms. More than anything, they need to be heard. Any patient could be a zebra.
Now I have a great team of doctors, and I use all the knowledge I have gained to do patient advocacy online to help others going through this process.
It may take many years for rare disease patients to get a diagnosis, but I have learned the diagnosis is not the endpoint or beginning; it is a continuation. Patients have already gone through a long journey to get to that point. It is important to know that it takes a village to get a diagnosis for a rare disease, and patients need as much support as possible on that journey.