Nikhil was born a little earlier than expected and was a seemingly healthy and responsive newborn baby. After missing many milestones throughout infancy, we started on a path with Nikhil’s doctors to determine the root cause of his difficulties. Although some of his doctors were sure he was a typically developing baby boy, blood testing and ultrasounds uncovered kidney abnormalities and Nikhil was given a diagnosis of Kleefstra syndrome just before his second birthday. Contrary to what we expected, Nikhil was extremely determined in his physical, occupational and speech therapies and learned to walk just before his second birthday. He is an intuitive, friendly and affectionate little boy. Nikhil loves meeting new people and is known for his contagious belly laugh. He enjoys learning new skills with his teachers and has an avid love for music. Nikhil struggles quite a bit in communicating with his family given his difficulty with spoken language, but is working hard and practising every day. His little brother, Ishan, keeps him busy and smiling and our family is so proud of Nikhil’s determination, progress and resilient spirit.
As parents, we were handed a harsh truth regarding our young son’s future. A difficult challenge has been living with the knowledge of things to come, particularly the expected negative cognitive impact seen in older Kleefstra kids. Nevertheless, after learning of his diagnosis and enduring a period of struggle and acceptance in our family, we feel compelled to do what we can to help Nikhil and other Kleefstra children around the world. Please help us develop a treatment for our children so they can enjoy the lives they deserve to live.