BENEFITING: Charities Aid Foundation America
Hira and Neha Verma wrote -
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 (KS). Kleefstra syndrome is a rare genetic condition caused by a mutation of an important gene called EHMT1.
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. We co-founded GeneSpark.org, an international non-profit foundation, to raise money to fund scientific research projects aimed at advancing a drug treatment for Kleefstra syndrome. Generally, Kleefstra patients like Nikhil have intellectual disabilities, speech impairments and various other neurological and physical abnormalities, which may include walking difficulties, heart defects, kidney/urological defects, respiratory infections and seizures.
While there is no treatment today, scientists do know enough to begin working towards developing a drug. Funding is the biggest hurdle and, as such, your donation and support can put a treatment within reach. Consider a donation on this page or help fundraise for us by clicking on the "Fundraise For This Campaign" button.
All donations made here by U.S. donors are tax-deductible because of our partnership with Charities Aid Foundation America (CAF America), an independent U.S. registered charity. Donations here are directed to the GeneSpark.org Fund at CAF America.