Rare Disease Day 2016

  Rare Disease Day 2016 is Monday, February 29. This day is a call to action for people affected by rare diseases to come together and raise awareness. When you have a rare disease, depending on just how rare it us, it can be difficult to find enough people impacted by the single disease to generate awareness, so some brilliant people have decided to make one day to focus on all the rare diseases, combining voices to ignite a movement.

Ben has rare diseases, and we have friends who have rare diseases. When I tell people that my boys have Down syndrome or that Ben is a leukemia survivor, nearly everyone has a frame of reference for that, but Hirschsprung’s disease, Cyclical Vomiting Syndrome and childhood Parkinsonism, not so much. I know that my friends whose kids have Dravet syndrome, or schitzencephalopathy, and other rare diseases have similar experiences, so for Ben and for them, I am joining in on Rare Disease Day.

I hope to offer a glimpse of our reality as a family affected by rare diseases, and that you will consider adding your voice to the conversation. Here are some common experiences of people living with rare diseases:

  • Doctor appointments are a way of life. We average 2-3 a week right now, but have had more or less in the past. I know families who have more than that all the time. 
  • We’re no stranger to the hospital. Whether it’s surgery, ER, or spending a few nights, we are the frequent flyers of the hospitals. 
  • Therapy too. Ben currently gets PT, OT and speech therapy at school plus additional private therapies. 
  • Our pharmacy staff recognizes us on sight. Meds are a way of life. I don’t like it, but the reality is that Big Pharma is the reason my kid is alive and has reasonable quality of life. 
  • We educate ourselves, finding books, articles and websites to learn as much as we can. Often information is not readily available, so we become detectives. 
  • We educate others. I have my Hirshsprung’s spiel, my CVS spiel, the one about Ben’s unusual surgery, and as I figure it out, I’m getting one together for Parkinsonism too. 
  • We’re resilient. When you live with rare disease it can feel like living in a lemon grove, but we make the best lemonade around. 
  • And man can we advocate. Often rare diseases are misdiagnosed or go without diagnosis for years. By the time we have obtained our rare disease diagnosis, we have survived a proverbial running with the bulls, so we can navigate some treacherous terrain. Often this produces passionate, assertive advocates with intuition and a strong voice. 
  • It can be a struggle to get insurance coverage for medicine, specialists, and out of network treatment centers. We often have to use those advocacy skills to get appropriate care. 
  • Appropriate care can mean traveling. And traveling with a loved one with a disease takes extra time and care. 
  • We’re often lonely. We don’t have support groups, and sometimes the only people we know with a similar path is a in a Facebook group. 
  • We didn’t choose this path, but we walk it with aplomb. 

To raise awareness, just use hashtag #raredisease, especially on February 29. The goal is to create a trend that could capture the attention of the media and government. Our hopes in so doing is to lighten the load for people affected by rare diseases, maybe eliminating a battle or two, and to engender solidarity. It’s not easy to live with chronic diseases, but when you have community and support, it makes the load a bit lighter. 


2 thoughts on “Rare Disease Day 2016

  1. Hi! I found your blog from the Huffington Post article you wrote. I just wanted to let you know that I read you entire blog, sent it to my own mom and my grandmother. Your writing is beautiful, honest and educational. Thank you for being you!


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