Gabrielle Zeppieri, a lifelong Wading River resident, sports a smile most days.
By her attitude, it’s hard to tell that she is one of only 100 people worldwide facing Neutral Lipid Storage Disease with Myopathy (NLSD-M) — a currently incurable diagnosis, stripping her of her independence in many regular tasks and causing her body to progressively decline.
Because of the rarity of the disease, there is little currently that modern medicine is able to do for Zeppieri and others like her, suffering from NLSD-M’s ravages, as it saps motor skills and physical strength.
But it was in this dark place that Zeppieri harnessed a different kind of power. In February 2024, she and her mother, Maria, started Gabby’s Wonderful World Foundation, which raises money to find a cure and support other people facing rare diseases.
“Our goal as a foundation, too, is to try to figure out how we can get bigger donations, maybe from companies or philanthropists,” says Zeppieri. “The events that we do keep the lights on for the foundation but to actually be able to fund a research project will take a lot more than those little events that we hold.”
In the process, Zeppieri and her team have continued connecting with knowledgeable professionals and a few other individuals facing NLSD-M in other countries.
As a child in Wading River, Zeppieri’s life was typical. She danced at Long Island Academy of Dance in Miller Place and Lake Grove starting at three years old.
“I always had dreams of becoming a professional dancer,” says Zeppieri. “I just loved being on stage and watching people watch me dance. It was the light of my life.”
At 10, Zeppieri’s parents rushed her to the emergency room with what they believed to be a stomach virus. It was there that doctors discovered Zeppieri’s elevated liver and muscle enzymes prompting them to diagnose her with Dermatomyositis, an autoimmune disease.
Doctors treated Zeppieri for Dermatomyositis, despite her showing no symptoms of the disorder besides bloodwork.
Nearly a decade later, it was ruled a misdiagnosis, and Zeppieri was told she had NLSD-M.
“That really came from our own research and perseverance going from doctor to doctor and then eventually a genetic test confirmed the diagnosis,” says Zeppieri.
It wasn’t until she turned 20 years old that the physical signs of the disease began to show up.
When Zeppieri was home from college on a school break, her mother questioned why she was using her non-dominant hand to pick up a glass.
“I didn’t even notice I was doing this,” says Zeppieri.
She believed it may had been from an injury during college dance class but the muscle weakness was caused by her disease.
Over time, that progressed to her other arm and legs, complicating more routine tasks, including walking.
“Now it’s very much impacting my day-to-day functioning,” says Zeppieri. “Daily living skills are hard. I try to be as independent as I can, but I do need a lot of help.”
At 32 years old, Zeppieri is in occupational therapy, physical therapy, strength training, occasional acupuncture sessions and takes a slew of different supplements to slow the disease’s progression.
In the journey to find answers, Zeppieri connected with many doctors and researchers including Ken-ichi Hirano from Japan.
These medical professionals contacted pharmaceutical companies on Zeppieri’s behalf, in search of some sort of treatment.
One pharmaceutical company told doctors that they knew what they’d need to do to cure her, but it was not cost effective due to the small number of people facing this condition. Hirano advised her to start a non-profit to raise the money.
Gabby’s Wonderful World Foundation has hosted a CycleBar class fundraiser, galas, holiday raffles, paint nights, restaurant events and brewery fundraisers.
“Even though I’m the only known patient right now in the United States that has this, I want to be able to help someone develop a cure for NLSD-M for everyone,” says Zeppieri. “For the other patients who are struggling in other countries.”
To learn more and donate, visit gabbyswonderfulworld.org.
