Meet Jack

On January 2, 2019, our family’s world changed forever. Two years earlier, Jack Ginder Czepiel, our third child, arrived right on time after a normal pregnancy and seemed healthy in every way. On that day, however, a pediatric neurologist told us that something was wrong, that Jack had PURA Syndrome, a rare disorder affecting brain development. At the time, only 300 kids had this new disease, but now that number has risen to 640 as new children around the globe are diagnosed nearly every day. 

Today, Jack does many of the things 6-year-olds do: He loves the swing and blowing bubbles, has started riding horses (with help!), and he adores food, especially cheese! He loves when Kyle and Jean, his parents, read books to him - which often prompts contagious laughter from the silly parts of children’s books. His older brother Sid (12) and sister Charlotte (10) adore him.            

Jack is an incredibly hard worker. Almost immediately after we returned from the neonatal intensive care unit at the hospital where he was born, he began physical therapy, occupational therapy, and speech therapy. Thanks to the robust New York State Early Intervention program, we did not miss a beat supporting Jack right away. He is surprising us each day with new skills, including saying “Mama,” imitating gestures, and standing independently for several seconds at a time - something we did not think was possible after reading the relatively small number of research papers on PURA Syndrome, which suggest children with this disease will never walk or talk. 

When we learned Jack had PURA Syndrome four years ago, we learned everything possible about the disorder and connected with other families facing similar challenges including weak muscles (hypotonia), sleep apnea, seizures, and many other issues. The PURA Syndrome Foundation and Parents of PURA Syndrome Facebook group has been incredibly valuable. On this quest, we’ve learned that among the 640 individuals who have PURA Syndrome, many children are doing well. Some can walk and even speak a handful of words.  

We are extremely hopeful that we can help Jack and other children with PURA Syndrome. In addition to maintaining and strengthening social connections among families of kids with PURA Syndrome, more research is needed to understand and interrupt this disease. And now is the time. Jack’s Tomorrow is committed to supporting scientists to use cutting-edge available research tools to make a difference for these very special children. Join Jack’s Tomorrow on this journey to make the best tomorrows possible while pushing the boundaries of today.