By Dawn DeBois
Do you remember navigating those fun houses with mazes of glass hallways and mirrors at the state fairs of our youth? When I think about the 12 years it took to get my rare disease diagnosis, it reminds me of those fun houses — only it was not so fun.
The National Organization for Rare Disorders states that it takes five years or more for a patient to be diagnosed with a rare disease.1 I think you will agree that describing to someone how you navigated the fun house at the fair does not adequately describe the frustration felt in those hallways of glass and mirrors. The same is true of getting a rare disease diagnosis. Simply telling someone how many years it took to get the diagnosis does not give a clear picture of the challenges involved. That's why we deserve to celebrate Rare Disease Day the last day of February each year: to bring awareness to the strength and endurance all rare disease patients and their families have shown in finding their diagnosis.
Thinking back to all the doctors I saw searching for my diagnosis, each one that gaslit me or gave me a misdiagnosis was like hitting one of those mirrors and having to turn around and try again in a fun house maze. I knew there was a way to a better life and that what I was feeling was not normal. But I kept hitting dead ends along the way. I often wondered if I was the problem — that maybe it was just all in my head as I looked at my reflection in my own hall of mirrors. Rare disease patients I have met all agree they had the same feelings. Going so long without a diagnosis makes us question our own perception of reality around our symptoms.
I think everyone can relate to the enormous financial and emotional toll it takes on families to endure countless tests such as MRIs, lumbar punctures and CT scans. Our insurance companies wouldn't approve the onslaught of tests without documentation of symptoms that warranted the expensive tests. And, yet, our specialists quickly dismissed us when a result came back as "inconclusive." Telling us to come back if things got worse was not adequate medical care.
Reviewing the radiologist's notes about a previous test that my then neurologist told me was "inconclusive," I realize now that it indeed was not inconclusive; it stated a pre-existing condition may have been neuromuscular in nature. My now diagnosed rare disease is neuromuscular. But my neurologist at the time simply stopped digging for answers. If I had one piece of advice for patients seeking a diagnosis it would be: "Inconclusive is not a diagnosis. Ask your doctor what test is next." That may have gotten me my diagnosis years earlier.
I recall how fearful I was when in those glass and mirror fun houses that I would never find the exit, and panic would set in until someone pointed the way, finally allowing me to breathe a sigh of relief. That's how I felt when I received the call from my diagnosing neurologist who said, "Dawn, what you have is so rare most doctors will never see a patient with what you have in their lifetimes." I had never imagined I was rare. Did you?
1. The National Organization for Rare Diseases; Rare Disease Facts & Statistics