A Rare Bird – Pay to Share

Disability wears many guises: chronic illness, neurological disorders, mental challenges, loss of a limb or mobility. People can have compassion, but to truly understand, “Walk a mile in the shoes.”

Add to this toxic mix a rare disorder diagnosis and understanding from the social network of medicine, people, or family is severely taxed. An explanation of the rarity of my diagnosis became a learned evasive and vague one-liner of general simplicity, or a detailed monologue expertly refined from repetitive recitation. Reactions vary from indifference, intrigued, melodramatic, or a blank stare.

I received my diagnosis of Stiff Person Syndrome in 1994, following four years of progressive symptoms of severity that led to disability…a life sentence since there isn’t a cure. Stiff Person Syndrome, (SPS), was known as Stiffman Syndrome when I received my diagnosis…a frivolous name for a possible life-threatening, definitely life-altering diagnosis.

So began my SPS tour: appearing at various medical facilities for all my health issues, a team of personal care physicians, continual clueless consumer representative phone calls, lab tests…the list goes on…my time and my dime.

So often, I am the prize albino monkey on display at the medical zoo. I welcome the opportunity to explain my condition…the “rare” find. I have had some interesting reactions in teaching my one-on-one course to the “up and coming” residents of the medical community.

My diagnostic neurologist left me alone with one his proteges to see if this young doctor could correctly figure out my diagnosis. When he actually nailed it, in a burst of exuberance, he smiled broadly with an emphatic, “Yes!” (Aced the extra bonus question on a pop quiz.) Inwardly, I was amused as he quickly recomposed his physician’s professional demeanor.

I lost one child to a recessive genetic disorder, Spinal Muscular Atrophy. To date, there isn’t a genetic relationship between SPS and SMA. One young resident sincerely asked a blonde moment question, “How does it feel to have two exotic illnesses in your family?”

Well, let me think about this. My child died and I can’t walk, move well, am in constant pain, and am disabled. Exotic? My imagination conjures up a tropical and secluded beach overlooking turquoise waters…the ability to run in the surf holding my child’s hand as she runs along with me.

My second neurologist enjoyed having the occasional resident in attendance whenever I had an appointment. In educating the young-doctor-in-waiting, I was the rare exotic bird of neurology in his practice…the elusive diagnosis.

It is a positive to be able to share and hopefully enlighten the medical community and others about my condition, but I am the one who should be paid.

Stiff Person Syndrome…one of the rare and “exotic” birds diagnoses of the neurology field.

“But those rare souls whose spirit gets magically into the hearts of men, leave behind them something more real and warmly personal than bodily presence, an ineffable and eternal thing. It is everlasting life touching us as something more than a vague, recondite concept. The sound of a great name dies like an echo; the splendor of fame fades into nothing; but the grace of a fine spirit pervades the places through which it has passed, like the haunting loveliness of mignonette.”

~James Thurber~

NORD is coordinating the observance of Rare Disease Day in the U.S. on February 28, 2009.

Copyright © 2009


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