In 2015, when I wrote about Rare Disease Day, a friend asked, tongue firmly in cheek, “Why not have Rare Disease Day on February 29th?” I admit that when I learned about Rare Disease Day several years ago, after I was diagnosed with one, a similar joke crossed my mind.
Each year, the last day in February is the date for International Rare Disease Day, and Leap Day or not, today offers the opportunity for us to remind the world that rare diseases are not at all rare.
Today, February 28, is International Rare Disease Day, and “Research” is this year’s theme.
Rare Disease Day was first established in 2008 by EURODIS, the European Rare Disease Organization. In 2009, the National Organization for Rare Disorders (NORD) in the United States joined the effort to educate the public.
Some rare diseases are life-shortening, and some kill in infancy. All rare diseases are life-altering. Once upon a time, rare diseases were called “orphan diseases,” and, really, neither term on its own—rare or orphan—quite conveys the concept. One rare disease may affect only a few individuals, making it something that is rarely seen; diseases and conditions that affect just a few people are sometimes viewed as research dead ends, otherwise known as “orphans” in drug and treatment research. The medical industry wants to aid the greatest number of people, and research money is hard to win for research into a condition that affects only a few thousand individuals.
Rare is not so rare, however. There are about 6000 rare diseases that are officially recognized as such; since each one affects (by definition) fewer than but up to 200,000 people per condition, some researchers estimate that 300 million people around the globe have a rare disease. That is about one in 25 people on the planet.
If you visit a restaurant tonight or if you go see a movie, a couple of us with a rare disease are hanging out with you. Hello.
Approximately 80% of rare diseases are genetic in origin, so the symptoms and challenges of the disease appear in children more often than not; thus it is estimated that 50% of those with rare diseases are children. That is 150,000,000 children around the planet.
Genetic diseases are usually the consequence of a mutation, however slight; a mutation in and of itself is neither bad nor good, but the consequences can be devastating and cut short a life almost before it starts.
I have a condition called spinal muscular atrophy. On chromosome 5 at chromosomal locus 5q11-q13, there is a mutation. Someone in my family history carried this mutation, probably never experienced any symptoms, and it was passed down to me. My body can not copy a particular protein needed to carry signals from my spinal cord to my legs. The nerves in my spinal cord are dying, and the muscles in my legs are atrophying, which gives the disease name a poetic completeness in only three words. It is a motor neuron disease, and under that umbrella title is related to amyotrophic lateral sclerosis (ALS).
The symptoms, the atrophying of my legs, did not appear until late in life, my 30s. Thus, I have a particularly gentle version of this rare disease. I can still walk, with help from a cane or a stick. This is spinal muscular atrophy type 4, but types 1, 2, and 3 are devastating in their symptoms. Some with SMA 1 do not live past infancy, some live into adulthood but never walk. All of us eventually develop problems with breathing. If you ever donated money to the Muscular Dystrophy Telethon, you helped, as many of the “kids” represented by that organization have types 1, 2, or 3.
Genetic research into treatments that can spare future children from lives spent in wheelchairs is worthwhile, and money is always needed to advance research. The annual “ice bucket challenge” for ALS helps raise money for a couple dozen research projects that are looking for treatments, cures, and ultimately preventions for motor neuron diseases like the one I have.
There are thousands of other diseases that fall under the rare disease title. A rare condition almost took my sister’s life when we were teenagers. One of the many great things about social media is how many support groups there are and that there may be a group for each one. My sister helps families with children confronting the same condition that she had. The National Organization for Rare Disorders has a website with many groups listed: Patient Organizations.
Thanks to social media, there are several friends whom I have not met in person, or even spoken with, but can not wait to do so soon. I only know them from their writing. Each has helped me day by day understand my condition and how to live with it through their words of encouragement online. Each one lives a life of gratitude even with a life-altering and (for some) a life-shortening disease. I aspire to carry myself as gracefully as Mary at A Body of Hope, Jessi at Finding out Fibro, Jason at My Life, A Journey with Ataxia along for the Ride, Kristin L., my friend Lynne, many others. Many of these friends live with chronic pain caused by their rare disease. Some of those people whom I mentioned earlier that you might see tonight in a restaurant or movie theater are heroes who live with amazing pain and somehow love life, perhaps all the more because of it.
These diseases and conditions affect the families and caregivers. My parents, my girlfriend, my relatives do more than encourage me: they help me walk and they give me a life in which I am always walking towards something.
Here is this year’s video:
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