Sunday, February 28, 2016

Take a leap

It comes only once every 1,461 days – February 29 – leap day. It’s only appropriate then, on this rare and special day, to celebrate those who are also rare and special. On this leap day, we’ll celebrate Emelyn and the millions of other children, adults, and their families affected by a rare disease. Because DDX3X is so newly discovered, it’s hard to know exactly how rare it truly is. There are likely lots of young ladies out there with her same gene mutation who just haven’t been diagnosed yet. By leap day 2020, we may have a better grasp on the true number of affected females.
Like Emelyn’s rare diagnosis, 80% of rare diseases are genetic in origin and thus are present throughout a person’s life. Here are a few other interesting facts from Global Genes about rare diseases:

  • 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
  • If all of the people with rare diseases lived in one country, it would be the world’s third most populous country
  • Approximately 50% of the people affected by rare diseases are children
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And until just this month, the last bullet point was true for DDX3X. Thanks to the hard work of some DDX3X parents, DDX3X now has a foundation and website: And, you can read Emelyn’s story, along with the stories of other little girls, on the site. I hope you’ll take a few minutes tomorrow, on World Rare Disease Day, to check out the website, learn more about DDX3X, and help raise awareness.