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It took me 6 months to get a diagnosis of a rare disease. My first neurologist told me I was being overly sensitive and imagining things.

Apr 7, 2023, 19:23 IST
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The author.Courtesy of Lori Futcher
  • I started experiencing a tingling in my feet that quickly climbed up my body.
  • The first neurologist who saw me said I was too sensitive.
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"I wish I could pat you on the head and convince you that you're OK," my first neurologist told me. The comment made me feel small.

A few months earlier I'd decided I was in the best health of my life, but then everything changed. It started one evening with a pins-and-needles numbness in my foot. By the next morning, my feet were buzzing with that tingling feeling.

I went to work, sure that my regular routine would return my feet to their normal condition. But the tingling continued spreading up my legs. When it hit my knees, I stepped into a local walk-in clinic and met Dr. Kennedy.

Dr. Kennedy took my tingling more seriously than I expected. His wife had experienced Guillain-Barré syndrome. He told me to go to an emergency room should the tingling spread beyond my waist.

It did, and I did. The ER referred me to a neurologist, who scheduled a nerve study. Even at the lowest levels, I was crying with discomfort. We began a round of testing and crying and screaming. The test took so long that the staff needed a break. I did too.

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I was told I was too sensitive

As I sat in my hospital gown in the doorway where the test was being conducted, one of the staff members told me it was her first day of work. "I think I may need to find another job," she whispered, her eyes expressing both guilt and empathy.

The neurologist told me, "Your reaction to the test shows you have a sensitive personality."

"Sensitive personality?" I wondered. How could a nerve study reveal my personality?

I decided he meant I couldn't handle pain. But I knew that was wrong. I had undergone several medical procedures that were supposed to be painful but weren't. If anything, I had a high tolerance for pain.

The neurologist patronized me with his comment about patting me on the head, and I went to my car to cry.

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"You need to see another neurologist," Dr. Kennedy said.

My 2nd neurologist took me seriously

My second neurologist noticed spots on my arms and legs that I was sure had nothing to do with my painful symptoms. "I've always had them," I said.

But he wasn't as dismissive of the spots as I was. He insisted I see a dermatologist. I called a dermatologist who scheduled me for several months out. My new neurologist insisted that wasn't soon enough.

I had been experiencing worsening symptoms for nearly six months. My hair felt like wires cutting my neck. Pages in a book felt like razor blades. My hands would refuse to grip a pen and then be fine the next day.

I called a dermatologist who could see me immediately. Walking into an old house that had been turned into a doctor's office, I met a lanky man who reminded me of a mad scientist.

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As he stared at my chart, he asked me what I was there for. I told him my neurologist was concerned about my spots.

He tossed out the name of an illness that had already been ruled out, then looked up from his clipboard. With intrigue bordering on excitement, he grabbed my arm and scraped against a cluster of spots. Small bumps appeared.

"These look like mast-cell clusters," he said. "I'll need to do a biopsy to know for sure." He wheeled in a metal cart and took two pieces of skin from my right arm, then handed me a printed internet article on mastocytosis and sent me on my way.

I got a diagnosis of systemic mastocytosis

As my husband drove me home, I read through the papers. "Oh wow!" I exclaimed. "Systemic mastocytosis might explain my symptoms!"

Though my symptoms were atypical of this disease, which is better known for anaphylaxis and gastrointestinal issues, they were included in the printout the doctor had given me.

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Our family was on a road trip to Maryland when we received the call that my test results had come back positive.

Hanging up the phone, I let out a scream of joy. "I have a di-ag-no-sis," I rapped. "Its name is mas-to-cy-to-sis!" My daughter and I repeated the rap the rest of the way to Maryland.

I knew it would take time to learn how to live with a chronic, incurable disease. But at least I had something to begin the journey back to a nearly normal life with.

Neurologist No. 1 had been wrong. I was not imagining things. I was not just being sensitive.

My diagnosis was a gift worth celebrating.

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