Rare Disease Day 2014: Join Together For Better Care

If all the people in the world with a rare disease lived in one country, it would be the world’s 3rd most populous country (The Global Gene Project).

According to Rare Disease Day’s website a rare disease is defined in the United States as one that affects fewer than 200,000 individuals at any one given time.  There are approximately 6000-7000 known diseases that fall into this rare category in the United States with:

  • 80% having identified genetic origins, while others are the result of bacterial or viral infections, allergies or environmental causes
  • 50% affect children
  • 30% of these children will not live to see their 5th birthday; in fact, rare diseases account for 35% of deaths in the first year of life
  • Approximately 1 in 10 Americans is living with a rare disease that may be degenerative and proliferative

Rare Disease Day | February 28, 2014Relatively common symptoms often mask a rare disease leading to misdiagnosis, delayed treatment, and in some cases death; this because the disease is not identified in time to begin intervention.  When so few people are affected, few research dollars are put toward finding a cause or treatment plans and few pharmaceutical companies are willing to produce a medication that will only benefit a few individuals (or they do so at a cost that in prohibitive to the patients themselves).  The Kakkis EveryLife Foundation found that 95% of rare diseases have not one single FDA approved drug treatment.

Lack of research also means few doctors are aware of or up-to-date on these rare diseases.  Patients often find themselves in a crisis situation in an emergency room trying to educate the medical staff on their condition and what they need, or being labeled as having somatoform or conversion disorders (a psychological condition that manifests itself as physical symptoms).

Patients fare no better outside of the medical community.  Friends and family often respond to the unknown condition with statements such as “at least it isn’t cancer” (or one of the other known conditions), and labor under the misguided belief that if they haven’t heard of it, it can’t be all that serious.

This year’s awareness theme is Join Together for Better Care. One awareness day–one day of people changing their profile picture or Facebook banner–won’t change the world immediately, but it does have the amazing potential to bring people together.  People can find others who relate to their experiences and can link together for change.  Margaret Mead said it best when she said “Never underestimate the power of a small group of committed people to change the world. In fact, it is the only thing that ever has.”

If you would like to join in the awareness on February 28th, you can find all of the sources you need from Facebook banners, social media badges, profile pictures, videos, press releases, and posters that you can download for free at Rare Disease Day 2014.

 Jennifer.

Jennifer Butler
Jennifer is the mother of 2 children and more 4 legged furry babies than she (or her husband) cares to count. Both of her children have primary immune deficiencies and her son is also on the autism spectrum. Jennifer is a full time Organizational Communication professor whose research focuses on work family balancing. Jennifer spends her spare time rescuing animals and advocating for her special needs children. She does this by focusing much of her energy on service dogs for children and being a school board member at her children’s school. You may contact her on Facebook, on Twitter, or at her blog, Caden's Tale.
Jennifer Butler
Jennifer Butler

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