NEW BETHLEHEM – “She doesn’t scare easy,” said MDA representative Samantha Kwok of three-year-old Shelby Plucinski of New Bethlehem. “Her Pompe diagnosis has only made her braver, which makes her the perfect ambassador.”
Kwok recently offered her words of praise to introduce this year’s ambassador for the 33rd annual Muscular Dystrophy Association (MDA) Ride for Life fundraiser done in conjunction with Harley-Davidson.
Plucinski, the daughter of Ryan and Angie Plucinski of New Bethlehem, was diagnosed with Pompe disease three years ago, and now regularly visits the MDA Care Center at Children’s Hospital in Pittsburgh, where she undergoes regular testing. That connection led to her being chosen as this year’s ambassador for the annual Allegheny County event.
“As ambassador, Shelby and her parents [rode] for the lives of children and adults living with neuromuscular disease,” Kwok said. “We think her story will inspire and bring joy and a sense of community pride.”
According to Ryan and Angie Plucinski, Pompe disease is a metabolic muscle disorder that disrupts the process and storage of complex sugars in the body resulting in a weakening of skeletal, cardiac and pulmonary systems.
“Shelby was diagnosed with later-onset Pompe disease a month after she was born in 2017,” they said, pointing out that Pennsylvania does newborn screening tests that led to the diagnosis. “She showed no symptoms at the time, and we had no idea until we received the test results.”
The Plucinskis said that when they first heard the news, they were terrified.
“We never heard of Pompe disease and neither had the nurses who shared the results with us,” they said. It wasn’t until they were referred to the MDA Care Center at Children’s Hospital in Pittsburgh that they got the answers to their questions.
“Shelby visits the center every six months for testing,” they said. The tests include echocardiograms and EKGs, along with blood and urine samples. “These tests will help us know when her muscles start to deteriorate before we see any physical symptoms.”
While Shelby hasn’t developed any physical symptoms, she will begin treatment as soon as she does, her parents said.
“Because her Pompe is later onset, she can develop symptoms at any time,” said Ryan and Angie Plucinski. “We’re very blessed that right now Shelby is healthy and asymptomatic, so she isn’t having any difficulties in her daily life.”
Speaking about their involvement with the MDA and the Harley-Davidson MDA Ride for Life, the Plucinskis said that they were initially contacted by the MDA following one of Shelby’s appointments regarding their willingness to enroll their daughter in the MDA’s ongoing research program. Their contact with the Ride for Life began when they attended an MDA fundraising event at Z-M Harley-Davidson.
“We thought we would attend as riders like every other motorcyclist, but we were really attending as an MDA family representing the community,” they said. “MDA took great care of us.”
“As an ambassador, Shelby is a face that people can relate to in the local MDA community,” the Plucinskis continued. “Shelby only knows that these events are all about motorcycles.”
They think that, as she gets older, Shelby will become a spokesperson for the cause.
“Our hope is that she can become more vocal about educating people on what her diagnosis is and how others can help and support MDA.”
The Plucinskis said that, because of the COVID-19 pandemic, the ride held last Saturday, Sept. 5, was very different from last year’s event which attracted about 1,200 riders.
“It [was] virtual, so while it [was] different from past years, it open[ed] it up to even more people.” They encouraged everyone to check out and experience similar fundraising events sponsored by the MDA.