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4 Reasons Rare Disease Day Might Really Matter To You

4 Reasons Rare Disease Day Might Really Matter To You www.herviewfromhome.com
Written by Alethea Mshar

There’s a day for everything.  From hug day to pie day and pretty much everything in between.  I could see why you would scroll right past yet another day, especially if you don’t even know anyone with a rare disease. 

Rare Disease Day is February 28.  Yes, it’s yet another day for something, but this one is a day for many things, and it just might matter to you, even if you don’t realize it. So bear with me a minute while I explain why.

  1. Chances are that you do know at least one person with a rare disease.  Looking at the list of rare diseases, starting with the letter “A” you’ll probably squint your eyes a bit trying to read some of the terms.  I mean, who has ever even heard of Acrocallosal Syndrome, Schinzel Type?  But as you look closer there’s Cystic Fibrosis, Macular Degeneration, which many of us know about and even know people affected by them.  There are over 6000 rare diseases, they are closer to you than you may realize.
  2. They are easily missed.  There is a saying taught in medical schools, “When you hear hoof beats, think of horses, not zebras.”  For the vast majority of patients whose ailments are common, that is perfect, but for those with rare diseases, this thinking can delay diagnosis and treatment.  My son, Ben, has Hirschsprung’s Disease.  He became terribly ill before he was diagnoses because his pediatrician believed he was just constipated.  She was focused on horses, when he was a zebra.  By the time we got it figured out, he was below the first percentile for weight and length, he was failing to thrive.  Increased awareness of rare diseases could help others fare better than he did.
  3. About half of rare diseases affect children.  It could be tomorrow that you are grappling with your child’s diagnosis you can hardly pronounce, or watching helplessly as they endure test after test in search of answers that evade you.  I hope that is never the case, but it is for many families.
  4. Advocacy and awareness mean better outcomes for everyone.  That is the very premise of Rare Disease Day, to support research and improve the diagnostic process and prognoses for those who have them.  My child was terribly sick before his rare disease was diagnosed, and the delay in diagnosis affects his daily life still 10 years later, and will for the remainder of his life.  I want better outcomes for other children, even if I cannot change my own child’s outcome.

My son, Ben, who has two different rare diseases, Hirschsprung’s Disease and Cyclical Vomiting Syndrome

Ben actually has two rare diseases, I’m not sure what kind of zebra that makes him.  Thankfully the Cyclical Vomiting Syndrome diagnosis was diagnosed in a fairly straightforward manner.  However, both the Hirschsprung’s and the Cyclic Vomiting syndrome impact Ben’s quality of life in ways we never realized they would upon diagnosis almost 10 years ago.  That’s why Rare Disease Day really matters to me.  Won’t you join me in generating awareness?

About the author

Alethea Mshar

Alethea Mshar is a mother of three children, one typical daughter and two sons who have Down syndrome, one of whom has autism spectrum disorder and complex medical needs. She has written "What Can I Do To Help", a guide to stepping into the gap when someone you know has a child diagnosed with cancer, which is available on Amazon, and is publishing a memoir titled, "Hope Deferred". She can be found on Twitter as leemshar, and blogs for The Mighty HuffPost as Alethea Mshar, as well as her own blog, Ben's Writing Running Mom on https://benswritingrunningmom.wordpress.com/. She is also on Facebook as Alethea Jo Mshar.

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