What does someone living with a rare disease look like?
I've officially been living with myasthenia gravis since 1998. But, I had my first symptom of MG in 1973. I was four. My family went to downtown Chicago to look at the Christmas window displays. We walked and walked. Then I sat down on the sidewalk. My parents picked me up and stood me up again. I sat back down. My legs wouldn't hold me up. My parents tried several times to help me stand, but I physically could not walk another step. My three-year-old brother had no problem keeping up. I had to be carried.
I was weaker than my siblings. They could swing across the bars at the playground. I could only make it halfway and then I would fall. Every year my elementary school had a fitness competition. Every year my siblings won and every year I lost. My siblings won patches and certificates. I felt shame because I tried my hardest and failed anyway.
Myasthenia gravis causes rapid muscle fatigue. Rest makes muscles work again. The works/stops working/works/stops working aspect of myasthenia gravis makes people who live with MG look lazy. No one recognized there was something physically wrong with my muscles. Instead, I heard...
You need to build up your stamina.
You need to try harder.
You need to practice.
You just need to...
Twenty-four years later, I found out I have MG. The puzzle pieces clicked into place. Mild MG goes undiagnosed because a simple rest makes muscles work again. So, a child who rides her bike, then reads a book for a while, and goes back to riding her bike, appears normal. My parents didn't know something was physically wrong. Neither did my pediatrician. MG is not on the medical radar screen.
Myasthenia gravis affects 14 in 100,000 people.
If 14 people in this stadium stood up would you notice?
Getting diagnosed with diabetes was easy. I was in DKA, my blood sugar was almost 400, and my A1c was 13. It took one doctor two seconds to diagnose me with diabetes. Getting diagnosed with MG took 17 doctors and 18 months. Why did it take so many? Two reasons.
1. Doctors don't notice the 14 people waving in that stadium any easier than you do. MG is so rare, odds are a doctor will see one patient in their entire career.
2. MG symptoms fluctuate. That is the nature of the disease. The muscle weakness symptoms are often difficult for the patient to describe. Because the symptoms are vague and come and go, 16 doctors pulled out the, "It's all in your head," script. None of them took the time to look up my symptoms. It was easier to dismiss me than help me.
The, "It's all in your head," script needs to be retired. Rare diseases are out there and people living with them deserve a diagnosis and a treatment plan. On this Rare Diseases Day, if I could institute one rule for all doctors it would be this:
If a patient comes into your office and says she has some odd symptoms that make no sense, come and go, and are distressing, please consider autoimmune illnesses before you dismiss her as mentally ill.