The story of Joy
I had a completely normal and healthy full term pregnancy with my first born Harper. When she was about a week and a half old I got a call from her pediatrician that her enzyme levels came back low on her newborn screen and we were being referred to a geneticist in our state. At this appointment she got more lab work done and told we would get the results in two weeks. After waiting what seemed like months they called us and we were told they were concerning and were then referred to Boston Children’s Hospital. We spent two weeks there in their Intermediate Care Program while they did every test imaginable on our three week old daughter.
Fast forward and it has been 9 months since her diagnosis and she is now a thriving normal baby receiving weekly enzyme replacement therapy in Boston. We were told she may be developmentally delayed and not hit her milestones but with the help of early intervention she is thriving and at or above age level in every category!
I don’t know what the future holds for her with this disease but I do know with the help of her team of doctors and God she will be ok.