NEW YORK (CBS) Wednesday marked national Rare Disease Day. A disease is considered rare if it affects fewer than 200,000 people. CBS' Kenneth Craig has the heartwarming story of one mother who's fighting to bring her son's condition out of the shadows and is already connecting families around the globe.
Sandra Sermone is a mother on a mission -- determined to learn everything she can about her 10-year-old son's rare disease. "He has brain abnormalities, heart abnormalities, he had feeding problems... gross motor, fine motor, oral motor delays," Sermone said.
Tony was born with ADNP syndrome, an autism-related genetic disorder so rare that four years ago only 10 other cases in the world had been diagnosed. And there was only one study about the disorder.
Sandra Sermone: Read that publication probably 50 times. And I ended up saying... I need to find these 10 parents.
Reporter Kenneth Craig: You didn't waste any time before you tried taking matters into your own hands then?
Sandra Sermone: Nope.
Sermone created her own database, website and patient registry, which has now identified more than 150 other children with the same syndrome.
Recently, some of those families met face to face. "Very emotional. A lot of times you feel like you are alone as parents," said parent Victoria Malvagno.
"To be in this room with all these children and all these parents who are living what we have been through is heartwarming and amazing," said parent Genie Egerton-Warburton.
After connecting with Sermone, researchers at Mount Sinai Hospital are launching a new study on the rare disease. "Trying to figure out the biology of this disorder and other similar disorders, so that we can come up with new drugs that are targeted to the disorder," said Mount Sinai's Dr. Joseph Buxbaum.
Sermone has even authored five research papers with her own findings. Even if it's not for Tony If one family--if one day they can make this stop or find out what's causing it--it will all be worth it," Sermone said.
A mother, turned researcher who says she wont give up until there's a cure.