We were catapulted into the world of rare disease on the afternoon of December 19, 2011, when we were told our daughter had a skin condition so rare that none of the medical staff on duty that day at the hospital had ever seen it or knew what it was.
Harlequin Ichthyosis. Two words that I had to practice saying and writing for days - they were so foreign to me. Har-la-kwin Ik-thee-oh-sis. It was weeks before I was able to read through all of the medical information regarding Harlequin in brochures and online, even though there was hardly any information at all because it's so rare. It took me months to just wrap my head around those two words. Those two words were so intimidating and overwhelming for so long.
Some facts for you, in honor of Rare Disease Day tomorrow:
- There are 28 different kinds of ichthyosis - with Harlequin being the most severe - affecting around 16,000 babies each year.
- Ichthy comes from the Greek root that means "fish". The skin of people affected by ichthyosis is often to compared to the scales of fish.
- The incidence of Harlequin Ichthyosis is about 1 in a 1,000,000 people
- Ichthyosis is genetic; it is not contagious. Each parent is a carrier but has no signs of ichthyosis themselves.
- The oldest living person with Harlequin Ichthyosis in the world just turned 29 years old.
- It is estimated that there are less than 20 people in the United States with Harlequin
- Until recent years, Harlequin was always fatal to newborn babies due to infection, dehydration or respiratory problems. Now with immediate and proper care, like Brenna received at the St. John's Children's Hospital NICU, babies can survive.
However, still today, the survival rate for babies born with Harlequin is only around 56%. That statistic greatly saddens me, especially for those babies who aren't fortunate enough to receive the incredible and immediate healthcare that we have. We are so blessed to have Brenna in our lives today.
Tomorrow, I encourage you all to wear jeans if you're able, to participate in the Global Genes Projects: Jeans for Genes. And in honor of Rare Disease Day, please share our story, bringing a precious face to the words "rare disease" and helping to raise awareness and educate others about celebrating differences.