June is myasthenia gravis (MG) awareness month, and I want to highlight some reasons why rare disease advocacy is so important. We need advocacy year-round, but June provides a chance to shine a light on the experience of our particular disease.
Like many rare diseases, it can take several years between symptom onset and diagnosis and treatment in people with MG. Symptoms can progress quickly during that time, and it can be frustrating and life-altering not having a diagnosis.
Although blood antibody tests and other diagnostic tests can identify the disease, not everyone who has symptoms tests “positive” on these tests. There is no diagnostic test that can 100% confirm the disease. It’s usually a collection of test results, symptoms, and treatment responses.
During my diagnosis journey, I had difficulty with healthcare professionals who focused only on the parameters of test results instead of my lived experience. It’s important that advocacy discusses the discrepancies that can happen between test results and patient experience for MG.
Read about therapies for MG
In recent years, advocacy for research has helped create more treatments targeted for MG, but these treatment options are few, and, like other rare disease treatments, they can be out of reach because of cost, side effects, and risks. There is no cure for MG. We still need more funding for research. Advocacy and raising awareness are essential first steps in helping patients and healthcare professionals get access to information about diagnosis and treatment as well as support.
Advocacy is also important because the unique features of MG can be invisible or easily misinterpreted. The most serious symptom of the disease is respiratory weakness, but you can’t “see” a weak diaphragm. I’ve been hospitalized for MG crises many times, and I’m often accused of just “having anxiety.” Even medical professionals assume difficulty breathing looks a certain way. But when your diaphragm is nearly paralyzed, you can’t inhale, speaking is very challenging, and you can lose consciousness. It doesn’t look like an asthma attack.
Many patients experience ptosis, or eye drooping. I have seen these patients say they are treated a certain way because people misinterpret it. I have seen patients talk about people thinking they were intoxicated because of their ptosis. Even our limb weakness and fatigue can be also misinterpreted. We need more awareness about how serious neuromuscular diseases present.
Not only can our symptoms be misinterpreted, but there’s a reason MG is called “the snowflake disease.” The disease presentation is unique for each patient and treatment responses are individualized responses as well. Not every MG patient has ptosis, and some patients have only ocular symptoms, while others have much more severe forms. Even age onset can vary widely. This is why it’s so important medical professionals and patients have access to information about how varied the disease can be.
Patients need the information and community from advocacy groups to know they are not alone and how to navigate their disease. Without information and research from the medical community, it can take even longer for patients to get a diagnosis and support. Advocacy and awareness are essential parts of creating access to support and understanding.
This June let’s celebrate how invaluable advocacy has been—and continues to be—for the MG community. It’s essential to continue to raise awareness to support patients, raise funding for research, and provide information to inform the medical community about our particular rare disease.