Thursday, February 28, 2013

Rare Disease Day

Today is Rare Disease Day.  So many of us go through life not knowing how "un-rare" this is.  (Okay, that's not really a word, but you know what I mean.)

According to the Global Genes Project, 80% of rare diseases are caused by variations in genes.  Here are some interesting statistics:

  • There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
  • Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
  • If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country
  • In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life
  • The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
  • According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
  • During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
  • According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.
Some of ones that reach out and grab me are: 
30% of children with rare diseases will not live to see their 5th birthday.
and Approximateely 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Now, I'm not trying to take away from all the wonderful kids cancer and diabetes groups.  They're awesome!  They really are.  And thanks to a former presidential candidate, Trisomy 18 is certainly better known than many.  But the fact still remains that there are a LOT of kids and families out there that need support, more support than they're getting.  

So, just for today, think about those who don't have a great support system, the kids and their siblings that don't have lots of money being donated for research and camps and conferences.  And if you've got a couple more minutes, look into some of them and educate yourself.  Three years ago, I had only heard of Trisomy 13 in passing and Trisomy 18 not at all.  It's a completely different world, a wonderful world, but also a scary one.  

Chances are really good that you know people (yeah, more than one person) who are affected this way.  Reach out and put your arm around them.  Let you know you care.  Let them feel your love.

“Alone we are rare … together we are strong”

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