“Especially Beautiful” Models Raise Awareness of Rare Disease

Special needs models will be the focal point of the 1^st Annual ‘Especially Beautiful Fashion Show’ in Orange County. These models, all special needs children and teens, are joining their friends Cali, 15, and Ryann, 4, Spooner in raising visibility about World Rare Disease Day. The event will be held Sunday, March 2, 2014 beginning at 11 a.m. at Peppino’s in Foothill Ranch.

Hosted by the Spooner family and the UC Irvine Division of Genetics and Metabolism, the 1st Annual Especially Beautiful Fashion Show will showcase youth that are faced with the daily struggles of rare disease, while capturing the essence of their beauty from the inside out. Children from the local community will model Rove Clothing on the catwalk to help raise funds for continued research through the UC Irvine Division of Genetics and Metabolism.

“We are excited and hopeful that the Especially Beautiful Fashion Show will bring together members of our community to support rare disease and thrust us forward with additional research to find a cure not only for our two beautiful daughters, but also for other undiagnosed children,” said Cristy Spooner. “After a 14-year struggle of going undiagnosed, we know how difficult it can be for children and their families impacted by a RARE disease. The fashion show will showcase how being rare is in fact so beautiful.”

The Spooner girls are two of four individuals worldwide to suffer from the rare genetic disease now known as mitochondrial complex 1. Last year, as a result of Exome sequence testing, the Spooner family discovered answers they have long been seeking – a diagnosis. The Spooners are now able to move forward in finding the answers they need to improve their daughter’s lives and possibly help other children around the world with the same RARE disease. In conjunction with Dr. Virginia Kimonis of UC Irvine Division of Genetics and Metabolism, a research project is underway.

On February 28^th, celebrations will take place around the world in honor of World Rare Disease Day.  Currently, there are 7,000 identified rare diseases and 350 million people worldwide who are affected by a rare genetic disease. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, and 95% of all rare diseases do not have a single FDA approved drug treatment, making the work of researchers and innovators critical in finding treatments and cures for all affected patients.

For more information about the event, the Spooner family and the life-time struggle of Cali and Ryann, visit www.Facebook.com/Spoonerfund, view their heart-felt documentary “The Life We Live” at www.TheLifeWeLiveDoc.com or visit Cristy Spooner’s blog www.spoonerbrain.blogspot.com.