Jeg Weets and his family live every day to the fullest since he was diagnosed with a rare, incurable disease.
At 2 years old, Jeg came to University of Iowa Stead Family Children’s Hospital when his local pediatrician recommended he be seen by a pediatric gastroenterologist.
"When Jeg first came to the children’s hospital, he'd been having some issues with fissures on his bottom," recalls his dad, Brad. He and his wife initially sought answers elsewhere, but chose to travel from their home in Illinois to Iowa City, where Brad has family ties. “My mom went to school [at the University of Iowa], and I actually had open heart surgery when I was a baby. They rushed me to this hospital, and this hospital saved my life. Knowing that they saved my life, I wanted my son to come here.”
"He'd had a couple of tests done, but they decided he needed a colonoscopy," Brad says. "Ultimately they decided that he had Crohn's disease, which was kind of a blow at first."
"Crohn's disease is a chronic disease of inflammation in his gastrointestinal tract," explains Jeg's mom, Jenna. "For Jeg, it's definitely the disease that causes the most problems right now."
His pediatric gastroenterologist noticed Jeg's spleen was enlarged during a routine visit and pushed for answers. The family met with the pediatric genetics team—the only team of its kind in Iowa—and through extensive testing, Jeg was diagnosed with Niemann-Pick disease type C (NPC), a rare, progressive genetic disorder in which cholesterol accumulates in body tissues, including the brain.
"Niemann-Pick disease type C is a fatal genetic disorder," Jenna says. "Slowly, he'll lose his functions: speech, swallowing. He'll lose the ability to walk, and cognitive functions will diminish, along with his hearing. He’ll experience seizures, dystonia [a movement disorder in which muscles contract involuntarily] and cataplexy [sudden muscle weakness]. Ultimately, it will take his life."
"Cholesterol goes in and cholesterol goes out through cells. With NPC, it gets trapped in the cell, and it can't escape, and it builds up and kills cells," Brad explains. "NPC takes a normal, happy child and slowly takes everything from them."
Jeg receives IV infusions every four weeks at UI Stead Family Children's Hospital and travels to Chicago every two weeks for an experimental drug, considered "compassionate use," that is administered through a spinal tap.
"There are no FDA-approved drugs for NPC," Jenna says. "So, we are getting this treatment and hope it will stall this disease and slow the progression and allow the medical advances to catch up, and hopefully provide him with the chance to live out a normal and highly functioning life."
Jenna and Brad note that only 500 to 600 children worldwide have the disease.
"It's actually very, very hard to diagnose, and a lot of times kids lose a lot of their abilities before they can diagnose it," Brad says. "So, were it not for the Crohn's disease and were it not for this hospital running that DNA test, we would still have no idea, and he wouldn't be getting the treatment for it.”
Today, Jeg enjoys riding his dirt bike and says he'd like to be a “good race car driver.”
“The hardest part is not having any idea what the future holds. It's hard because you try to have faith every day and that's what keeps you going, but no one's ever survived this disease. Maybe he's the poster child for the first one to survive it,” Brad adds.
"Our family's priorities definitely have changed since Jeg was diagnosed," Jenna says. "We value the small things and the big, and every day is just as important as the last. And he really has given us a whole new meaning to what life is really about. When you get diagnosed with NPC – sometimes referred to as childhood Alzheimer’s – you're told, ‘go make memories,’ and that's exactly what we're going to do.”