FCPA Featured Patient – November 2023
This November, in recognition of 22q Awareness Month, the FCPA focuses our patient spotlight on 9-year-old Jason Singh, who was born with DiGeorge Syndrome, also known as 22q11.2 deletion syndrome. This genetic condition, caused by a missing part of chromosome 22, can affect many parts of a person’s body, causing heart abnormalities, an impaired immune system, and other developmental delays. Features vary widely from person to person, and although there is no cure, treatment and early intervention can improve symptoms.
Jason’s mom offers important advice to new parents of a child with 22q11.2 deletion syndrome: “Stay positive!”
Jason’s mother, Salicia Singh, said that he does not have the typical 22q11.2 deletion syndrome facial appearance and has not encountered problems that other children often struggle to overcome. Jason’s complex medical history is significant for 22q11.2 deletion syndrome and velopharyngeal dysfunction, and his primary challenges have centered around speech and language skills. According to Salicia, the multidisciplinary team at Nemours has been especially helpful in providing support and necessary resources, and he has made steady improvement. She feels proud of Jason when he interacts with others and moves through his daily activities with self-confidence. She offers important advice to new parents of a child with 22q11.2 deletion syndrome: “Stay positive!”
Jason, currently in the 2nd grade, enjoys playing Roblox and spending time with his siblings and cousins. He would like to become a teacher after graduating from college.