‘Day by day’: Rare Disease Day 2015

“Day-by-day, hand-in-hand.” Today, February 28, is International Rare Disease Day, and “Day by day, hand in hand” is this year’s slogan. As slogans go, “#TheDress” might have received more attention today, but tomorrow the world will not remember this week’s Twitter trends and millions of people will still be living day by day with rare diseases.

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. This year’s theme is “Living with a Rare Disease.” Some rare diseases are life-shortening, and even kill in infancy. All of them are life-altering.

Once upon a time, rare diseases were called “orphan diseases,” and, really, neither term alone 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, “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 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, never saw 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, and will for years to come. This is spinal muscular atrophy type 4, but types 1, 2, and 3 are devastating in their symptoms. Some patients do not live past infancy, some live into adulthood but never walk. All 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 lives spent in wheelchairs is worthwhile and money is always needed to advance research. Last year’s “ice bucket challenge” for ALS helped raise money for a couple dozen research projects that are looking for treatments, cures, and ultimately preventions for motor neuron diseases.

There are thousands of other diseases. 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. The National Organization for Rare Disorders has a website with many groups listed: Patient Organizations.

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 best friend Lynne, many others. Many of these friends live with chronic pain caused by their rare disease. Some of those people that I mentioned earlier in the restaurant or movie theater are heroes living with amazing pain and somehow loving life, perhaps all the more because of it.

I am certain that I will be able to list another dozen new friends by next year’s Rare Disease Day.

As I wrote at top, this year’s Rare Disease Day theme is about “Living with a Rare Disease.” A rare condition almost took my sister’s life when we were teenagers; these diseases and conditions affect the families and caregivers. My parents, my girlfriend, my relatives do more than encourage me: they are who the organization meant by this year’s slogan, “Day-by-day, hand-in-hand.”

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The WordPress Daily Prompt for February 28 asks, “What’s your ideal Saturday morning? Are you doing those things this morning? Why not?” I spent it writing.

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The WordPress Daily Prompt for February 27 asks, “You have the chance to write one last post on your blog before you stop blogging forever. Write it.”

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7 comments

  1. lilypup · February 28, 2015

    Thanks for sharing this. Good information. http://lilypupslife.wordpress.com/

    Liked by 1 person

  2. Pingback: The Ideal Saturday Morning. | The Hempstead Man
  3. Teresa Oh · March 1, 2015

    I am moved by your sharing and will spread the word to those around to be mindful of this.

    Liked by 1 person

  4. rogershipp · March 7, 2015

    Your honesty is a constant encouragement to me. Thank You!

    Liked by 1 person

  5. Pingback: ALS, SMA, and Nice Ice | The Gad About Town
  6. Pingback: ‘Making Our Voices Heard’: Rare Disease Day 2016 | The Gad About Town
  7. Pingback: #RareDiseaseDay 2017 | The Gad About Town

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