The Truth About Living With a Rare Disease


My most troubling memory from my childhood is perhaps that of a little girl getting a prosthetic fitting. I was 15 at the time and battling my own demons. I had just recovered from extensive corrective surgery and was at the orthotics office to get a new pair of calipers (leg braces). I detested the massively inconvenient pieces of metal mesh that shackled my freedom and left me in endless agony and that time was no different.

As I stared woefully at the metal contraption and then back at my sheepish father — who had broken his promise to never inflict another one of these on me — I couldn’t help but feel myself falling off another steep edge.

A boy hugs his brother after a leg straightening surgery.

It was then that the little girl with pigtails caught my eye. She was no more than five years old, her fingers taut around her mum’s loose clothing. The room was dimly lit, but from their silhouettes, I could tell she was missing her right leg. The mother was clearly struggling with the physical piece of prosthetic equipment precariously balanced in one hand and her limp child on her shoulder. I distinctly heard the soft cooing from her pursed lips as she soothed her child.

In an instant, the mother turned and her eyes caught mine. I could see her fright. I’ve often seen that look in people seated in grim hospital waiting rooms — it’s a shocked look I’ve probably had umpteen times myself. Then suddenly she spoke, and I will never forget her words: “Will my child be OK?

I hated the universe at that moment. I hated it for not allowing me my own private moment of sadness, a moment to linger on my own plight. It wasn’t fair to not allow me my own tears, instead somehow tainting it with the guilt of an emotional hurricane.

Consumed by my own pain, I felt like telling the mother that I thought it most likely wouldn’t be OK. In my opinion, living with a rare disease often makes life not OK. Her precious 5-year-old in simple pigtails might grow up to lead a very different life from what her mother had planned for her. From what I had personally experienced, she would likely be stared at and bullied, and she would probably have her soul crushed repeatedly. If she survived her rare battle, she might end up feeling useless and tired from a lifetime of trying. Her mother, at some points in her life, might be advised, preached at, and shunned, possibly losing friends and struggling with prolonged bouts of isolation. As someone who had already been through 15 years of challenges with a rare illness, I knew the trials can come fast and thick.

The pain from the straps on my new brace was intense. I didn’t want to be a hero who had “gone through so much and survived.”  I wanted to scream, “I don’t want to ‘survive!’ I wanted to live!” Two boys with a rare disease chase bubbles in a field

But, I was too choked up to answer her.

Today, I sit here as a mother of two special boys with an inherited rare disease, and I feel that mother’s clammy hand on mine. I desperately wish I could tell her all the things I know now:

Boy with a rare disease and two leg casts plays on a pool table

Life with a rare disease isn’t easy. In a field of horses, it may sometimes take 32 years for a doctor to see a zebra. But when you find your zebra, and when the little great things come, you rise like a phoenix from the depths of despair. You hustle. You armor yourself with so much knowledge that you become a resource for others starting similar journeys. You appreciate little moments of truth because they stay with you as gentle reminders for when things fall apart — reminders that yes, even if it took forever and a day, you found your way.

That in this rare disease life, being rare keeps away the ones who callously hit “unfriend,” the naysayers, and the judgment dealers. Those who remain, you cherish and hold forever near. They become your unbreakable support circle, a buttress to your dirty laundry, empty fridge and uncooked dinner.

That this rare disease journey may not be the one you planned, but it just may be the best-planned one for you.

That you might not feel strong, yet you persisted. You spat out conditions, syndromes, and disorders, color-coded that 900-page medical history and insisted on fighting each day to make it the best it could be.

That this rare disease life will break us and curse us with words you were religiously taught never to use. Sometimes you will hate yourself for feeling overwhelmed. Sometimes, you might only see the rare and not your child, inviting the occasional pity party. But after letting it out, you stay yourself because it’s tomorrow, and you straighten that crown.

That this rare disease marathon teaches you to turn away another talisman and refuse a trip to a distant sacred temple famous for “miracles.” But you continue to see mountainous miracles past test results, assessments, and scales of progress. You have your own measure of awesomeness calibrated to a special love, joy and happiness privy only to the rare.

Two brothers with a rare disease wear superhero capes That for this rare disease fight, you don a superhero’s cape and slay hospital visits, therapy sessions, surgeries and recoveries, and heaps of “I’m tired’s.” The emotions are so deep and sharp that in the end they leave you raw, exposed and in never-ending pain. But when the time comes, you know you’d do it all again.

So to that special mother out there with her special rare disease child with pigtails, I know by now you have found your own answer. And to all the rare disease warriors out there beginning this journey, you will find your way.

 This blog was originally featured here on BraunAbility

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