Health Notes

HEALTH NOTES Army of Advocates

By Connie Mitchell Photos courtesy of Neonatal Progeroid Foundation

When Leslie Macari’s daughter, Gabrielle, was born with a rare genetic syndrome, the dedicated mother learned everything she could about neonatal progeroid syndrome, or NPS, in order to be Gabby’s best possible advocate.

“I’ve read every single study and published article out there about neonatal progeroid syndrome,” she says. “This is a very rare disease, so there’s just not much research published or funding available for it. We want to help change that.” To do that, Macari recently established the nonprofit Neonatal Progeroid Foundation based in Chesterfield. The organization’s mission is to increase NPS awareness and provide funding for clinical and scientific studies. NPS is a genetic disease estimated to be present in fewer than 1,000 people in the U.S., according to the federal Genetic and Rare Diseases Information Center, and treatments are extremely limited. It’s diagnosed at or shortly after birth and is most commonly associated with a prematurely aged appearance characterized by a large forehead, wrinkles, deep-set eyes and more visible veins than are typical in babies or children. Other issues affecting children with the syndrome include cataracts and vision problems, growth delays, problems with feeding, developmental delays and a variety of additional potential symptoms.

Macari says that recent research has identified the syndrome’s genetic code and has found mutations on the PolR3A gene, a discovery that other research can build on, she says. However, while answering some questions, the findings raise others, and Macari is determined to push for additional research that might offer hope for a treatment.

“I’m not going to just sit around and hope things get better,” she says. “I connected with other parents of NPS children from all over the world via Facebook. And it took a while to get a nonprofit foundation set up, but we did it because no one else is going to advocate for us.”

The Neonatal Progeroid Foundation’s first event was a golf tournament in August, which raised $22,000. Macari says the event will occur annually, and she hopes for increasing participation each year, as well as additional fundraising events throughout the year. She also plans to continue speaking with and presenting information to scientists and physicians, in order to build a stronger network of NPS researchers

help change that.” To do that,

Macari recently established the nonprofit Neonatal funding for clinical and scientific studies. NPS is a genetic disease and clinicians.

Although Macari is busy with her work as Neonatal Progeroid Foundation president, she always makes time for Gabby and her two other young children. Now an active 6-year-old, Gabby is enjoying first grade in a mainstream classroom, loves reading and is excited about starting dance classes. “She amazes us,” Macari says. “She still has challenges, like the need for a feeding tube, but she’s happy, and that makes us happy, too.”

Neonatal Progeroid Foundation, neonatalprogeroidfoundation.com