Chase was born on August 21, 2009, in Jacksonville Florida. He arrived a bit early via C-Section. At two days old, his bilirubin levels were elevated and a roller-coaster ride to diagnosis began for our family. At first, Chase was misdiagnosed with Cholestatic Liver Disease and spent the first year of his life with elevated hepatic panels and an enlarged spleen. The LFTs began to improve but his developmental skills began to sharply decline, around the age of one.
On September 21, 2011, with the help of a great pediatrician pressing specialists to test for Lysosomal Storage Diseases, Chase was diagnosed with Niemann Pick Type C disease at the age of 25 months old. The leading Children’s Hospitals in the United States as well as a few other hospitals and a score of doctors missed this diagnosis, despite his presentation with its most telling early symptoms.
Chase is the youngest known child in the world to undergo cyclodextrin infusions to try and halt his fatal neurodegenerative disorder. It was only through the help of very active Niemann Pick Type C disease patient advocating families that Chase was able to get an Investigational New Drug Application (IND) with the FDA under a Compassionate Use Protocol to try cyclodextrin.
Parent driven research and groups helped give my child a chance. Chase loves his family and his home and his huge blue eyes are full of curiosity and wonder. My biggest hope for him is the ability to make choices for himself one day, be it as simple as picking out and putting on his own pair of “genes” or choosing his college course load.
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Tags:Cholestatic Liver Disease, Compassionate Use Protocol, cyclodextrin, elevated bilirubin, enlarged spleen, Investigational New Drug Application, lysosomal storage diseases, misdiagnosed, neurodegenerative disorder, Niemann Pick Type C disease