St. Louis mom gathers local families to raise awareness for son’s rare disease

A local mom recently hosted a gathering of 10 families all impacted by Cornelia de Lange Syndrome (CdLS), a rare genetic spectrum disorder that presents complex medical, physical, and developmental challenges, on International CdLS Awareness Day.

Kavina Sprehe made sure Millennium Park was filled with all things purple on May 9, the signature color of the CdLS Foundation, which serves families from all over the country. In Sprehe’s case, families at her event came from all over Missouri and even Illinois. For Sprehe, CdLS has been part of her family’s story since her now 6-year-old son, Izaak, was nine months old.

“Initially, I sensed something unique about Izaak, but it took some time and research before I had an idea, and then I found the CdLS Foundation’s website,” Sprehe said.

A geneticist suspected the infant may have the rare disease, but it took the Sprehe family over 2 years to confirm. Since Izaak’s diagnosis, his mom has stepped into the role of Regional Coordinator in the state, helping families like hers. The recent family gathering was just one of the ways Sprehe works to raise awareness for CdLS.

“Hosting the CdLS Family Gathering was so special because it gave families like ours a chance to connect with other people who truly get it, while also raising awareness for Cornelia de Lange Syndrome in our community,” she said.