When Sandra Sermone gave birth to her son Tony 10 years ago, she was devastated to learn that he had several heart defects. Little did she know, the abnormalities would be the first in a long list of health issues Tony would face.
“As he grew, every month we had a new diagnosis. Every month, more things would pop up. The list went on and on,” Sermone, 46, tells PEOPLE of her son. “For close to five years, we did a massive amount of genetic testing — it was just one thing after another. It was unbelievable. It was terrifying. I didn’t know what was wrong with my child.”
Tony has several brain and heart abnormalities (he has undergone open heart surgery twice) and his vision is impaired, Sermone says. He also has “severe” autism and is nonverbal. He struggles to eat and sleep and suffers from seizures.
“He’s pretty much affected head to toe,” the mother tells PEOPLE. “He’s 10 but he functions like a 1-and-a-half-year-old. His brain is shrinking. [He has] white matter loss, or atrophy. Tony’s last MRI said ’global diffused atrophy,’ that’s what they call it.”
When Tony was 6 years old, doctors were finally able to diagnose him with ADNP syndrome, a rare, neurodevelopmental disorder, autism-related disease that “wreaks havoc” on the brain and other organs. Tony is the 11th known person in history to be diagnosed with the illness. Doctors know very little about the obscure disorder.
“I thought, ‘This is worse.’ You told me what’s wrong with my child and there’s no medical protocol? There’s no one who can help him? There’s no one who understands it?” she says.
When Sermone, of Brush Prairie, Washington, looked for information on the illness, she learned there was only one study on the disease. So, she began doing her own research. She created her own database, website and patient registry, which has now identified more than 150 other children with the condition, she says.
“Any time a family got diagnosed, they’d Google ‘ADNP’ and my website would come up. They’d reach out to me and so I created a parent group on Facebook,” she says. “Every parent says the same thing, ‘Oh my God! I thought I was all alone!’ They get on my website and they read the other kids’ stories and they all tell me the same thing, ‘It’s like I’m reading about my own child.’ “
Sermone has begun working with scientists and researches to learn more about the condition — which is the result of a spontaneous gene mutation — and find a cure. She has become a pioneer in ADNP research. With so little known about the condition, Sermone says she doesn’t know what will become of her son.
“Tony is extremely loving. He wants to sit next to you and cuddle with you. He has a funny sense of humor. He has this innate adorableness to him, all the kids do. He’s very happy,” she says of her son, who is nonverbal. “He understands so much more but he can’t express it.”
She adds: “It’s our normal. Everyone who’s around him loves him. I call him Superman. He doesn’t realize he’s changing lives. None of this would’ve happened without him. So, we call him Superman and he wears his Superman shirt every day to school.”
Sermone and her husband, Rich, 52, have two other children, Sophia, 12, and Tony’s twin, Rocco. Neither child have health issues.