Meet JP – A Champion living with NPC
For JP, who is 18-years-old and lives in New York, there are few things more enjoyable in life than a good party. A party combines many of JP's favorite things – music and spending time with friends and family. Eight years ago, JP was diagnosed with Niemann Pick Disease Type C (NPC). Like many patients, his diagnosis came after many years of unexplained and progressively worse symptoms – beginning with clumsiness and muscle fatigue and advancing to seizures and cognitive decline. His father Jay remembers how the symptoms of NPC affected JP. "He has always been a happy kid, easy going and full of life. He loves any sports that involve a ball, especially lacrosse. When he started to fall often as a child, we thought he just had low muscle tone. We put him on a swim team, got him some physical therapy and hired a personal trainer to work with him a couple days a week." Despite these interventions, JP's strength and coordination continued to decline.
JP also struggled academically and was diagnosed in second grade with attention deficit disorder (ADD). Even with all the support at school and at home, he could not keep up with his classmates. Doctors dismissed the family's concerns, saying JP would eventually catch up. But at the age of seven his family noticed that his eyes seemed unable to move up and down normally. His attentive older sister reported that JP would drop his head and shoulders when he laughed. At this time JP also began having seizures. As time went on, his unexplained symptoms worsened.
In the winter of 2013, JP was referred to Boston Children's Hospital. Eventually, genetic testing confirmed Niemann Pick Disease Type C. JP's mom Donna immediately began searching online for information about NPC, and the family began to understand the severity of the disease.
"We were devastated, everything we read about NPC was tragic,"
said Jay. "But we had to move on, to persevere, because we still had JP right in front of us and he deserved every ounce of fight we have as a family."
As the family continued to search for information about potential treatments in development and the best ways to care for JP, they found support through social media and through connections with others in the NPC community. "Facebook became my best friend for a few months," said Jay. "I found families that were already living this nightmare and I reached out to them. We found a family that lost their son to NPC only a few towns away. We talked and listened, trying to navigate this new journey we were given."
Despite the challenges of NPC, JP has continued to try to enjoy his love of music – working with a music teacher every week. Recently he attended a fundraiser for NPC organized by his family, an event they have organized for many years. During the event JP performed with the band on stage, singing. With the help of his music teacher who he works with every week, JP sang the ballad by Queen, "We Are the Champions." For JP, it was one of the moments he lives for – a party, with music and friends of family. For Jay and the rest of the attendees, it was a gathering of supporters – a community always there for JP and his family on their journey with NPC.
"We have found our community, the people who really understand what life is like living with a NPC child," said Jay. "As long as JP enjoys these events, we will continue to hold them. His strength, perseverance, and resilience despite what he faces every day with NPC should be a lesson for us all."
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