NEW YORK (CBSNewYork) – Wednesday marked International Rare Disease Day, which includes almost 7,000 unusual disease afflicting 300 million people worldwide.
CBS2’s Dr. Max Gomez shares the heartwarming story of a mother who’s fighting for her son and so many others.
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,” she said. “You know, he had gross motor, fine motor, oral motor delays.”
Her son Tony was born with ADNP syndrome, an autism-related genetic disorder. It’s so rare that four years ago, only 10 other cases in the world had been reported and only one study was published on the disorder.
“Read that publication probably 50 times. I ended up saying… I need to find these 10 parents,” she said.
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 the families met face-to-face.
“Very emotional,” said Victoria Malvagno. “A lot of times you feel like you are alone as a parent.”
“To be in this room with all these children and parents who are living what we have been through… it’s heartwarming and amazing,” Genie Egerton-Warburton said.
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,” Director of the Seaver Autism Center Dr. Joseph Buxbaum said.
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,” she said.
There is currently no cure for ADNP syndrome, but the FDA has given special designation to a new drug that could be the first treatment for patients with the rare disease.