Rare Does Not Equate Less
Today is World Rare Disease Day 2017.
This bunch of words conjures an image of diseases that affect extremely few people in the world.
This is not Cancer or HIV.
Surely the suffering must be less.
Surely the pain felt at the loss of a loved one must be less severe.
I mean the pain brought on by death by cancer must be greater than if your loved one died from a disease no one can pronounce.
Do these families really deserve your time, sympathy and help?
My paternal grandmother passed on a rare disease to five of her eight children.
The disease is called spino cerebellar ataxia.
A disease so rare only about 150, 000 people are thought to have it in the USA. And no family in Africa is known to have ataxia.
One of them was my dad. He passed it on to my elder sister who started showing symptoms at 26 and passed away 12 years later.
Meanwhile I was traversing the world getting my masters in the USA then working in Dubai. I was not aware of Elizabeth’s condition. After the USA I lived in Kenya for a year and noticed her rapid deterioration.
I started working in Dubai and as soon as I settled down to work and a routine, I decided I would save Elizabeth. So I started writing to ataxia experts in the world. Experts at UCLA, John Hopkins Hospital, London.
I hated to see my sister suffering and for some naïve reason thought that me mentioning ataxia would open an avenue of visas, unlimited funds to enable her to travel and the doctors would fix her.
Most of the doctors could obviously not travel to Africa so I had to get Elizabeth to them, plus she had no health insurance, no visa, no money.
Ataxia affects the part of your brain that controls movement and coordination. If you don’t move, your body becomes stiff, your muscles atrophy and Elizabeth was soon bedridden and could not do anything for herself.
She died in 2011 and the overwhelming feeling I experienced at her deathbed was relief.
Surely heaven was a better option than the life she was leading. Crippled, had started developing bed sores, had started a descent into madness.
I loved my sister and thought her life mattered. But actually, it really did not.
Approximately 350 million people worldwide suffer from rare diseases.
There is nothing less about a family being afflicted with a rare disease.
I would argue everything is on a much grander scale.
First the fact no one has even heard of the disease, be it friedreich’s ataxia or huntington’s disease.
That introduces a whole bunch of problems from people not knowing how to deal with a family and the eventual isolation a family is forced into.
A disease like ataxia affects your balance and speech and the immediate reaction when people see a patient is imagine you are inebriated. Meanwhile you may not even drink because alcohol damages your brain cells.
There is a stigma surrounding these weird sounding diseases with weird symptoms.
And it gets worse. Doctors have never seen this disease, don’t have a standardized method of testing and may misdiagnose a disease for years.
Then the cost involved. A genetic test in the USA costs 5000 dollars and is not covered by insurance.
Most of these diseases have no cure. Laboratories around the world are not spending their millions of research dollars on getting a cure for patients who are a minute percentage of the population. What is it in for them?
Profits rule the world.
“Is my company going to find a cure for a disease that affects a whole bunch of people or cure 20 people in Africa?”
Finally, we live in a cruel, self-centered world. Words like empathy, concern, kindness are non existent.
A person with a rare disease needs to be as active as possible in a gym or in crossfit or in yoga. But again you will be stared at. Who wants that? So they will prefer to stay home and maybe even turn to alcohol which is bad for them.
In an ideal world, everybody would know what ataxia was even if they just went home to google it, “normal” people would not stare and point at any “unusual” person, there would be a standardized test available to all doctors for all rare diseases and finally there would be a lot of headway made towards a cure.
Because any family that has had a rare disease will have suffered several deaths before the eventual death of a loved one.
We need to change this.
Ps. I am not downplaying the suffering brought on by cancer by the way.
This article originally appeared on www.nyakarimaking.com
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