Not too long ago, we blogged about Rare Diseases.

Rare Disease Day falls on February 29th this year, a day some would argue is the rarest of 2016.

If you know anything about rare diseases, perhaps you’ve seen the statistics:

  • There are ~ 7,000 different types of rare conditions
  • 80% of rare diseases are genetic in origin
  • Approximately 50% of the people affected by rare diseases are children

And my personal favorite:

  • If all of the people with rare diseases lived in one country, it would be the world’s third most populous country (take a step down USA).

CooperGenomics supports Rare Disease Day and Global Genes, a non-profit organization that promotes the needs of the rare disease community.

For nearly two years, Global Genes has invited patients to tell their own stories of living with a rare disease because rare diseases aren’t just about statistics. Like everything else in medicine, it’s about the people behind those numbers, the daily warriors affected with these conditions.

Below are a few of the over 300 stories that have been submitted. Some are fascinating. Some are sad. Some are funny. Some offer hope. But all will inspire you.

Teen With Epidermolysis Bullosa (EB) Gets to Fulfill Dreams

Laughing it Off, One Dust Bunny at a Time: A Family Full of Rare and Genetic Mystery

When Someone Said “So What” About My Daughter’s Rare Disease


Shannon Wieloch

Shannon Wieloch is a licensed board-certified genetic counselor at CooperGenomics. Her primary responsibility is to provide genetic counseling to CooperGenomics patients. Other professional roles include managing the genetic content on social media, supervising graduate students, and conducting research.

Prior to joining CooperGenomics, Shannon worked in cardiac research at The Children’s Hospital of Philadelphia and in prenatal genetic counseling at The Delaware Center for Maternal and Fetal Medicine. She received a dual B.S. in biology and psychology from The University of Pittsburgh and her M.S. in genetic counseling from Arcadia University. Her passion is to provide comprehensive genetic education to medical professionals, patients, and the general public. In her free time, she loves to travel, doodle, play board games with her girls, and take too many pictures of her cat.