St. Joseph’s University, New York alumna Gabrielle “Gabby” Zeppieri ’15 had what one would consider a pretty typical childhood. She went to school, hung out with friends and family and took part in extracurricular activities, her favorite being competitive dance. Then, at the age of 10, she was rushed to the emergency room with what her family believed was a stomach virus and uncovered the first signs that her life would indeed be different from those around her.
“After a bunch of different labs and tests, doctors saw that I had very unusual elevated CPK levels and liver enzymes. And CPK levels relates to muscles in your body,” Gabby said.
It wasn’t long before a pediatric rheumatologist diagnosed her with a rare autoimmune disorder that results in muscle weakness and began treatment. A few years later, Gabby and her family would find out that she had been misdiagnosed and was now confirmed with having Neutral Lipid Storage Disease with Myopathy (NLSD-M), an ultra-rare genetic disease. At the time of her diagnosis, only 15 cases were confirmed in the world with Gabby being the only known case in the United States.
However, with little to no symptoms and Gabby still wanting to pursue competitive dance, she was determined to continue on with life as usual.
“I think it was back in 2010. I was still symptom free. I didn’t have any muscle weakness. I was still competitive dancing. I was going about my normal routine. Then, I went away to college…,” Gabby recounted.
It was during winter break when her symptoms began to manifest.
“I was sitting with my mom and dad and my mom questioned, ‘Gabby, why are you lifting your glass with your left hand?’ For the record, I’m right-hand dominant. I went to pick up the glass with my right arm and I couldn’t do it,” she continued.
Gabby Zeppieri ’15 and her family.
With that, Gabby’s journey of battling of NLSD-M truly began. With her dreams of becoming a competitive dancer now deterred, she transferred to St. Joseph’s University, New York, majoring in Human Relations. SJNY gave her the opportunity to think about what she wanted to do with her future, and though she admittedly hit a roadblock after she quit dancing, Gabby credits the University with helping her through her transition.
“The classes were great and the teachers were awesome,” she said. “It was an amazing experience. I loved it.”
It was during this time at St. Joseph’s when Gabby found her calling in life, wanting to become a school psychologist. Today, she does just that, working for the Middle Country Central School District on Long Island.
“I’m in my eighth year in one of the high schools as a school psychologist and it’s just so rewarding to come to work every day and be able to work with kids and make a difference in their lives.”
But in addition to making an impact in the lives of students, she is also seeking to change her own. Despite her worsening condition, Gabby continues to work full time while slowing the progress of her disease through physical therapy, strength training, acupuncture and supplementation. And that’s not where her hard work stops.
In an effort to raise awareness about her condition and one day find a treatment, Gabby with the support of her family started Gabby’s Wonderful World, a non-profit organization. Through hosting events and fundraising, Gabby’s Wonderful World hopes to end the feeling of isolation and unite individuals afflicted with rare diseases.
Founded February 4, 2024, and in less than two years’ time, the foundation has already made incredible strides. Recently, Gabby’s Wonderful World made contact with the Center for Gene Therapy at the Nationwide Children’s Hospital in Columbus, Ohio to begin clinical trials that may possibly treat NLSD-M.
As the flagship driving medical research for one of the world’s most rare diseases, Gabby sometimes finds herself asking how it is all possible before she remembers the unwavering support she’s received over the years.
“I’m putting in 12-to-15-hour days, then I go home and I’m running a foundation. I really attribute that to everyone that backs me up and supports me. My mom and dad are my two pillars. They are my rocks. They keep me going every single day,” she said.
When first diagnosed with NLSD-M, Gabby would ask herself, “Why me?” Today, as a beacon of hope and a shining example of never giving up, she asks, “Why not me?” when it comes to making a difference in her life as well as the lives of others.
Gabby and her family started “Gabby’s Wonderful World” in 2024 to to raise money for NLSD-M research.
