One mom’s mission to find cure for son’s rare disease

Sandra Sermone is a mother on a mission. She is determined to know everything about her 10-year-old son’s rare disease.

“He has brain abnormalities, heart abnormalities. He had feeding problems, gross motor, fine motor, and oral motor delays,” Sermone told CBS News.

Her son, 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. When she looked for more information, she learned there was only one study about the disorder.

“I read that publication probably 50 times,” Sermone said. “And I ended up saying I need to find these 10 parents.”

She created her own database, website and patient registry, which has now identified more than 150 other children with the same condition.

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Sandra Sermone with her 10-year-old son, Tony.

Recently, some of those families met face to face.

“It’s very emotional. A lot of times you feel like you are alone as parents,” Victoria Malvagno said.

Another parent, Genie Egerton-Warburton, said being in the same room “with all these children and all these parents who are living what we have been through is heartwarming and amazing.”

February 28 marks Rare Disease Day. A disease like ADNP syndrome is considered rare if it affects fewer than 200,000 people.

After connecting with Sermone, researchers at Mount Sinai Hospital in New York City are launching a new study on the condition that affects her son.

“[We’re] 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 Dr. Joseph Buxbaum, director of the Seaver Autism Center at Mount Sinai.

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 which could be the first possible treatment for patients with the rare disease.

© 2018 CBS Interactive Inc. All Rights Reserved.

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