When Battling Rare Disease Is Like Climbing a Mountain


Imagine you have gone through every test known to man, plus some.
Well this has happened to me in the past 13 years. I thought I had a diagnosis, then I was told the doctors had changed their minds, so I spent 17 days in the hospital with some of the best brains in the land and at the end of that there was no definitive diagnosis, just more medication.

Then add to that the complete loss of your voice for three months – not a word, not a syllable, frustration growing ever deeper communicating through a synthesized voice on your smart phone.

Then your eyesight is affected badly. You wonder to yourself, what next? Then it hits and hits hard: depression.

We expect so much from our clinicians but sometimes they are stumped. I have decided to call my condition the “Napier syndrome” – that makes me more than one in a million.

You have a choice: you can go to bed, pull the covers over your head and never get up again, or you can decide to climb the mountain. Yes, it is very steep and the oxygen level gets lower as you climb ever higher, but on you go, climbing higher and higher. Every day you know you will never reach the summit but you still keep pressing on regardless.

This is a lonely journey but for one: the one who cares for you 24/7, the one who endures your moods and your anger and keeps coming back for more – in my case, it’s my amazing wife.

I know I will never reach the summit, but I also know I will never stop trying. Living with a disability changes everything: the extra medical costs (I find this amusing – you have the condition but you also pay for the privilege of having it), your friends stop visiting you, you may begin to become isolated, you may begin to lose hope… But then you remember you have been here before many times – too many to count – but although you’ve never reached the summit, you never gave up – you just kept climbing.

That is what it is like when you have a condition no one else has. Don’t ever dis my ability, because my abilities far exceed my disability and that plus my faith is what defines me. That’s what drives me to see others in a similar situation, give them all the help they need to lead productive lives and, when possible, join them on the climb to the top of the mountain.

We want to hear your story. Become a Mighty contributor here.

Thinkstock photo via sezer66.

TOPICS
JOIN THE CONVERSATION

Related to Rare Disease

Group of people with hands stacked on top of each other

What the Rare Disease Community Means to Me

My husband and I found out we were expecting our first child in March of 2012. We were surprised and shocked and so excited. During those nine months of waiting for our son to be born, we also squeezed in a wedding and a brief honeymoon. It was such an exciting time in our lives [...]

Caregiver Self-Care, Not Just One More Thing on the List

Last month we had 28 medical appointments in our calendar. That does not include the IEP and meetings for updated medical accommodations at the school, nor the medical care for the dog who urgently needed dental surgery. I am, after the loss of my former husband a few years ago, a single and only parent; the sole [...]
smiling little girl with shank2 gene mutation

What It's Like to Hear a Geneticist Say, 'It's Never Been Seen Before'

“It’s never been seen before,” the geneticist told my husband and I with a faint grin. I could tell that for someone in his profession, he was trying to contain his excitement. We had been on the journey for my daughter’s diagnosis for 18 months now. She was about to turn 3, and we finally had [...]
Two friends having coffee and a cupcake. We cannot see their faces but we see from hand positioning they are talking and connecting.

How I've Found True Friendship Living With a Rare Disease

When I think of friendship, I usually think of the people in my life who have seen me through thick and thin. The people who perhaps I have grown up with, gone to school or university with, traveled with, played sports with or worked with for years. I think of the people who I hope [...]