Rare Disease Day: Educate and Advocate for SPATA5 and SPATA5L1

Today is Rare Disease Day, a day to raise awareness for the 400 million people worldwide living with a rare disease, their families and caregivers. A disease is considered rare when it affects fewer than 1 in 200,000 people, and therefore these diseases tend to be under researched, under-funded and lack an available treatment for those who need it.

For Spectrum employee Nicholas George, Rare Disease Day is not just another day. It’s a moment in time where he uses his voice and available platforms to advocate for his son Luca, age 2, living with an ultra-rare genetic condition called SPATA5L1 Related Disorder. In fact, this disorder is so rare, it has only been documented in approximately 60 people world-wide, making Luca truly one in a million!

Out of love for their son Luca, the George family launched The SPATA Foundation as a passion project to bring awareness and much needed resources for all people affected by the disease. The SPATA Foundation is dedicated to advocating, educating and driving research for SPATA5 and SPATA5L1 Related Disorders.

As we celebrate all families and patients this Rare Disease Day, we want to encourage you to learn more about the George family and SPATA5L1 at spatafoundation.org.