Today is international Rare Disease Day; a day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

A rare disease is any disorder that affects a small percentage of the population, therefore has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. Basically, not profitable enough in a multi-billion dollar sect of high profit drugs.

Most rare diseases are genetic. Pharmaceuticals, policy makers and the like often overlook us rare disease patients despite MANY rare diseases being recognized as highly treatable, unlike mainstream diseases like Cancer or Aids.

It's known that rare disease research has changed and benefited research in other more common diseases like muscular dystrophy or cancer. Cancer, for example, involves mutations of DNA like genetic diseases.

In the US a disease is considered rare if it affects fewer than 200,000 people, yet collectively there are 7,000 rare diseases worldwide, affecting 30 million Americans nationwide. Of those 7,000 only 200 have found treatments which means only 5% of rare diseases have treatment today. It is estimated that 350 million people worldwide suffer from rare diseases.  

ALS, MS, Parkinson, Cystic Fibrosis, fatal Duchenne  and my condition, GNE Myopathy, fit under the umbrella of rare disease. Of all these rare diseases I listed, mine is the least publicly recognized.

Lack of awareness = lack of funding, lack of funding = lack of treatment.

In 2005 I was diagnosed with a rare and genetic muscle wasting disorder called HIBM (Hereditary Inclusion Body Myopathy). Today HIBM is known as GNE Myopathy. This disorder slowly degrades all skeletal muscles — ending in complete quadriplegia for most. GNE often touches those in their most productive years of their life. We’ve always had the mutated gene but for some reason it doesn’t physically manifest until 20s and 30s. I was 20 when I began my diagnosis search but in hindsight symptoms began at 17.

Rare diseases are known to be very difficult to diagnose and most face misdiagnosis for months or years. Through the years I’ve seen more than a few dozen doctors. Some of the best doctors did their worst work on me. 

Five misdiagnoses and 5 years later, I found answers but I also entered the lonely world of being unknown. When I was diagnosed in 2005 it was thought I was 1 in 1 million worldwide. Today, it’s estimated there are over 3,000 GNE patients worldwide. Back then there wasn’t a bustling worldwide diverse GNE Myopathy social media group filled with active patients like we have today.

Geneticists say hereditary diseases are already incorporated in the human DNA. Some of these diseases, believe it or not, are there to protect continuity of human life. So errors in DNA are necessary for diversity which means most genetic errors can't be eradicated even with progression of medical science. “But current medical science theorizes that each human are born with seven genetic errors”, ranging from mild to serious conditions. Your eye color is a genetic mutation, for example. Originally we all had brown eyes, so 6,000-10,000 years ago blue eyes didn't exist.

But we don’t think we have to know about hereditary diseases if we aren't affected. We see hereditary diseases as “special” but they're more common than we think. It's important for the public and private sector to understand so empathy and understanding towards those afflicted can affect change, for we are all moving towards death from the moment we are born. Some of us just have a more difficult path during this journey between life and death.

This year is my 20 year anniversary of living with GNE Myopathy. I’m also living with an unknown (soon to be diagnosed) chronic illness that has consumed my life and is unrelated to my diagnosed GNE Myopathy. I have been a public advocate for my rare and degenerative muscle condition since 2007. You would think with so much time under my belt, living with this would get easier. But it doesn’t. With every year this gets more difficult.

Most people think I have SCI (Spinal Cord Injury) thus independent since most paraplegics are. But not all disabilities are treated equally. I am now closer to quadriplegia and can't drive, transfer, bathe or go to the bathroom alone. My disorder is not just about getting used a wheelchair for the rest of my life. It completely affects my ability to be independent which is the most difficult part of this journey.

If you would like to read more of my thoughts, you can read my Rare Disease Day blog post from 2018 ‘What Is Inspiration’ and ‘What Is Rare? - A Look at Oliver Sacks and the Human Condition’.

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