Column logo

I once read that getting a diagnosis after many years of seeking one is like reading a prequel to your life. At some point, the pieces start to fit together. Patients can feel some sense of relief, but there is also uncertainty about what comes next. This is especially true if the diagnosis is a rare disease as there are rarely pamphlets in exam rooms with information about your disease. That certainly was true in my case, with myasthenia gravis (MG)

Sometimes it can be difficult to find accurate information online. I look back and realize I needed more guidance and quality information after being diagnosed with MG.

In my last column, I discussed what the years of struggling to get a diagnosis felt like. Once I got an MG diagnosis, it was a relief to finally have a label to apply to the years of health chaos, but transitioning into the treatment and management stage after diagnosis was not a smooth ride either. The doctor who diagnosed me was over 100 miles away, so I had to do a lot of work learning about my disease on my own.

It’s been 7 years since my diagnosis, and I am still learning. The terminology related to rare diseases, in particular, can be overwhelming. I did not know at the beginning what “seronegative” or “seropositive” meant or how to understand antibody bloodwork. I learned what the thymus gland is and its relation to MG.

I have had many myasthenic crises over the years, and I had to learn quickly what that meant as well. It was very daunting for me and my husband to learn this terminology quickly. I also had to learn about the variety of treatments available to talk to my doctors about. It’s important that patients get enough time in the exam to go over this daunting new terminology and be able to ask questions about treatments because they are so uncommon and so often used “off label.”

Read more about the diagnosis of MG disease

Many patients go online after they get their diagnosis to find as much information as they can. They often seek outpatient support groups, such as those on social media. Those groups can be great for finding support and talking to others going through the same experience. I have made many great long-term connections with other patients through those groups. But there is also misinformation. Being able to separate disparate experiences from factual research and seeking out websites with reliable information is important for newly diagnosed patients.

One of the first questions many patients will have after a rare disease diagnosis is about the long-term prognosis. MG has been referred to as the “snowflake disease” because symptoms and experiences among patients are so variable. The severity can be wide-ranging. MG patients need some expert guidance about their own particular disease expression and where it may lead in the future, as well as how treatments can play a role in prognosis. If patients only look online or in support groups for this information, they may get inaccurate information, which can increase their anxiety and uncertainty. 

It’s also important that caregivers and family members are part of the conversations about what happens after a rare disease diagnosis. Since my symptoms were already severe by the time I got a diagnosis and started treatment, we needed more medical guidance. We learned later that symptoms don’t typically progress this quickly, and I am considered a refractory patient. We never learned that by searching online. That was information we could only get from my specialists.

Gathering information online, from other patients, and from specialists is a crucial part of understanding a diagnosis. Patients need extra guidance during the early stages after a diagnosis as they enter a new world of what it means to live with a rare disease, and I am grateful for all the knowledge I have gained.