RAISING AWARENESS
Community comes together to fight Pitt-Hopkins Syndrome
Sept. 18 was national PittHopkins Syndrome Awareness Day.
Locally, one family is doing all they can to raise awareness and funds for research to fight the genetic disorder, and their community is supporting them all the way.
The DiNuzzo family is blessed with two beautiful little girls, Daphne, 5, and Cecily, 2. A third child is on the way, due in January. When Cecily, or CeCe as everyone calls her, was born, her parents Lizzy and Louie knew right away that she was different. It took a little time - and a lot of expenses - for them to find out exactly what it was.
“A geneticist at Boston Children’s Hospital figured it out with Whole Exome Sequencing,” explained Lizzy. “It’s a very expensive test that checks for every known genetic anomaly.”
But even when he found it, the geneticist didn’t know what he was looking at right away. That’s because Pitt-Hopkins Syndrome is extraordinarily rare. It’s estimated that only 1,000 people worldwide have been diagnosed with it.
Pitt-Hopkins Syndrome is a neurodevelopmental disorder caused by a mutation on the 18th chromosome. Those affected by it have profound developmental issues, both intel
Pitt-Hopkins Syndrome is a neurodevelopmental disorder caused by a mutation on the 18th chromosome.
lectual and physical. Most never talk and many never walk.
Once the DiNuzzos knew what they were dealing with, they jumped in head first. They are members of the Pitt-Hopkins Research Foundation, a non-profit organization dedicated to research for a cure. They started fundraising efforts for the organization, including Wednesday’s social and raffle at Flatbread Social in Saratoga.
Flatbread Social is a pizzeria owned by locals Ryan and Sonja McFadden, who are friends of the DiNuzzo family. When Lizzy approached them about a fundraising event at their restaurant, they happily agreed.
“We are happy to support this,” said Ryan. “It’s a child-friendly restaurant, and we’re happy to help out any way we can.”
The DiNuzzo family sold raffle tickets near the entrance of the restaurant, for prizes all donated by local families and businesses. Flatbread Social donated 20% of all sales that evening to the fundraising efforts.
“Looks good so far,” commented Ryan as he looked over the crowded restaurant. “It’s definitely a solid turn out, and we’re hoping to raise a lot of money. It’s a good night.”
It was indeed a good night. Crowds of people came in waves to the pizzeria, filling it up and enjoying pizza, salads, and drinks.
“Lizzy’s my cousin, so we’re happy to be here for her,” said John Conway, as his two sons played at one of the shuffleboard tables. “It’s my first time here - I’ve been meaning to get here.” The fundraising event provided a way to support his family and try a new restaurant all in one evening.
Daphne went around with a basket of light blue awareness ribbons and handed them out freely. People lined up to buy raffle tickets, and to say hello to CeCe. She’s getting to be well-known in the community.
“We bring CeCe everywhere,” said Lizzy. “She’s getting an adaptive wheelchair soon. Things are different and they’re harder, but there’s nothing we can’t do and nowhere we can’t go.”
Lizzy also mentioned how grateful she is for the many kinds of support her family has received. CeCe has a team of therapists working with her in her Early Intervention program, and she goes to Unity House in Troy for a few hours each week.
“CeCe has lots of therapists because she had to learn how to walk and talk, and she has these pictures that she uses to talk,” explained Daphne, referring to the photo cards CeCe has started using as a form of nonverbal communication.
“And the emotional support we’ve gotten — I can’t say enough,” LIzzy added. “We’ve got so many friends here.”
Lizzy knows that the best way to raise awareness of CeCe’s condition is to make her a part of the community. That’s why she goes everywhere with her family, on every outing and errand.
“I don’t expect to leave Saratoga, so hopefully she’ll have a community here and people will get to know her. We’re always out and about,” Lizzy explained.
Due to the nature of PittHopkins Syndrome, CeCe will need therapy services for her whole life. She will never be able to live independently or hold a job. It’s hard to say what level of development she will reach, partly because the nonverbal factor makes it harder to gauge.
But in many ways, CeCe is like every other child her age. She loves music. She’s a happy child. Her aunt Alicia describes her as “a big cuddler.” Big sister Daphne is very protective and loving, and not afraid to talk about her.
All proceeds from the evening at Flatbread Social are going directly to the Pitt-Hopkins Research Foundation. The DiNuzzos hope to hold a fundraiser event every year on National Pitt-Hopkins Syndrome Awareness Day, though the format may change from year to year.
“I’m good at fundraising and Louie is a good runner, so maybe one year we’ll host a 5k,” said Lizzy.
There may be a lot of unknowns in CeCe’s future, but her family is not afraid to face them. There’s no telling how far she’ll go until she gets there.