The Road Less Traveled: Navigating a Rare Disease Diagnosis

It took me five neurologists over five years to finally get diagnosed with my rare disease: seronegative myasthenia gravis (MG). MG is a chronic autoimmune disorder that messes with your neuromuscular junction, where your nerves meet your muscles. It causes muscle weakness and fatigue. It’s rare—affecting about 1 in 10,000 to 1 in 20,000 people worldwide. So, it’s not exactly something your average doctor sees every day.

The average time to diagnose a non-rare autoimmune disease is about 4.5 years. But for a rare disease like MG, you’re looking at a “diagnostic odyssey” that can take almost six years. Yeah, you heard that right. Six years.

In my case, I was misdiagnosed with chronic fatigue syndrome (classic), and my symptoms were often shrugged off. My one eye would sometimes look, well, kind of sloppy and drunk. But my hip and thigh weakness? That was the real showstopper. Over three years, my leg weakness went from being triggered by excessive heat (and making me lean on my husband like a toddler) to becoming a more serious struggle. Eventually, I lost the ability to walk unassisted at times or even drive a car for days.

Rare diseases don’t always match common symptoms. I only had ptosis for a hot minute, and never double vision. A big part of why I went undiagnosed for so long. The frustration of getting sicker and sicker while providers dismiss you is enough to make anyone want to scream. I had moments where I could barely make it to my car without crying after a doctor’s appointment. I felt invisible. When a doctor tells you your tests are normal, but you’re still struggling to even walk, it’s like your body has a “But your labs are normal” sign plastered on it.

So, what’s a person to do when the system isn’t listening? Enter patient advocacy. We need to be our own best advocates. For me, that meant acting as my body’s attorney.

Here’s how I approached my appointments, almost like a legal case:

1. Bring the Evidence

We can’t just say we feel like trash. “Umm” and “I dunno” are not going to win your case. We have to bring hard evidence. I started using a symptom tracker to document my symptoms. For example, I could clearly show how my leg weakness had become 14% worse over the past six months. That kind of data can’t be ignored.

2. Ask the Tough Questions

Don’t be afraid to ask the hard questions and repeat them as often as needed. When a neurologist would tell me that my EMG was normal, so nothing was wrong with my muscles, I would ask them, “Can you help me understand why I’m having falls?” Or “Then why does my right foot keep catching on the ground and the side of the tub?” I’d whip off my sock and show them my black and blue toes. How is that for evidence?

I like to say, “I understand that test or that lab was normal, but my symptoms are chronic and progressing. So what is next on the list to explore?” And if they refused to budge, I went on finding my next doctor.

3. Make a Clear Plea

Like telling a jury they need to vote not guilty, I made my plea extremely clear and convincing. “I am here to get a single fiber EMG as multiple studies have shown this to be the gold standard approach when seronegative myasthenia gravis is suspected.” I had my medical file folder primed with peer-reviewed research supporting my case.

A softer approach you can use is first bringing out the research and saying, “Can you help me understand these research articles and how they may apply to my situation?”

4. Don’t Be Afraid to Move On

I can’t stress this enough: Don’t settle for a doctor who isn’t right for you. Just because a specialist is local or your neighbor swears by them doesn’t mean they’re the right fit for your rare condition. For example, the first neurologist I saw specialized in MS, which was my suspected condition at the time. After two years, when my symptoms got worse, I returned to this provider as she was thorough and friendly. But she already ruled out MS, and that was her area of expertise. The appointment was a waste of time for us both.

That’s when I got smart. I started seeking out neuromuscular neurologists who specialized in MG. And guess what? After seeing two of them, I finally found the one who had a genuine interest in seronegative myasthenia gravis—the condition that was making my body betray me.

Finding a doctor who takes you seriously can feel like looking for a needle in a haystack. But when you find the right fit, it’s like finally getting your foot in the door. Don’t be afraid to walk away if the doctor isn’t right. Your health is too important to compromise.

Ultimately, the road to a rare disease diagnosis isn’t easy. It’s filled with frustration, setbacks, and doubt. But with persistence, patience, and a strong closing argument that would impress the toughest attorney, you can get the care you deserve. Just keep pushing forward—because you’re the expert on your own health. And no one knows your body like you do.

So, take a deep breath, gather your evidence, ask the tough questions, make clear asks, and don’t stop until you get the answers you’ve been searching for. And I’m here if you need more support. Whether one-on-one services or one of my self-guided resources, I’m here to boost your confidence and streamline your path to answers and care.