Anthony Mirigliani, 9, of Mantua, was born with Pitt Hopkins Syndrome, a rare genetic disorder characterized by motor, verbal and developmental disabilities.Photo courtesy of Claudette Mirigliani

 MANTUA TWP. — Claudette Mirigliani had been looking for an answer for six years when a doctor finally diagnosed her son Anthony with Pitt Hopkins Syndrome.

The rare genetic disorder, which is characterized by severe verbal and developmental delays as well as motor-skill problems, had been obvious from the beginning of her son’s life. No one had been able to pinpoint the cause of Anthony’s disabilities, however, until the family made a visit to Children’s Hospital of Philadelphia.

“That was my re-birthday,” Mirigliani said. “It was an answer to a question I’d had for six and a half years.”

The Mantua Township committee on Monday night declared today Pitt Hopkins Awareness Day. To honor the occasion, Mirigliani and her family will raise money for the Pitt Hopkins Research Foundation with a lemonade stand at their home.

Pitt Hopkins Syndrome is extremely rare, with only 250 people diagnosed with the disorder worldwide. But Mirigliani suspects that many more have been incorrectly diagnosed with cerebral palsy, the same way Anthony was for several years.

“This is why awareness is so important,” she said. When people try to guess Anthony’s condition, “A lot of people assume he’s autistic.”

Although Anthony, 9, loves to spend time with other children, he cannot speak, and delayed fine motor skills limit him to rudimentary sign language. He couldn’t walk until he was 2 1/2, and his mental age is only that of a 3- or 4-year-old. He needs help eating as well.

That doesn’t stop him from enjoying life, however. Anthony, who plays baseball, soccer and basketball in a league with other special needs kids, is a fixture around Mantua.

“He’s so happy,” said Mirigliani. “We go shopping, and everybody knows him.”

She hopes to raise awareness about Anthony’s condition and even enlighten the parents of other special needs children.

“We want them to know there’s a boy in the neighborhood with a rare genetic disease,” Mirigliani said. “If there’s somebody else out there and they don’t know what’s going on with their kid and I can help them, that’s groundbreaking for a parent. That’s the biggest thing: awareness.”

The Miriglianis will hold the lemonade stand at their home at 740 E. Atlantic Ave., Sewell, today after school hours.

For more information about Pitt Hopkins Awareness Day, visit pitthopkins.org.

Contact staff writer Andy Polhamus at 856-686-3729 orapolhamus@southjerseymedia.com

Mantua Township declares September 18th International Pitt Hopkins Day!