Raising Funds for Bella Medical and Research

My Name is Krista Amato, and along with our family, we are raising funds in an effort to help with the cost of medical bills/therapy for my niece Bella, and research needed to improve her way of life, as well as the lives of many other individuals diagnosed with this mutation.

Bella was recently diagnosed with CASK, a diagnosis that is extremely rare - yet Bella’s older sister, Anna, was given the same diagnoses at the age of 4. Anna and Bella are 2 of only (about) 170 diagnosed with CASK across the world.

CASK is found on the X chromosome, and symptoms are usually diagnosed in infancy. There is a wide range in the level of disability that can be caused by a mutation in the CASK gene. Anna was diagnosed with a De Novo (new) pathogenic variant at Children’s Hospital of Pittsburgh. Up until now, Anna was the only child diagnosed in Pittsburgh, and research showed that her mutation occurred only in her and not her Mom and Dad. At the age of 2, Anna’s parents were told she would not walk or talk and most likely would be unable to learn. Anna is currently 11 years old and very verbal and mobile. She has been an A and B student and excels in sports including gymnastics. This is largely thanks to Anna’s mom fighting for answers at an early age, providing Anna with lots of ongoing therapy, and a school that has been exceptional in helping her to succeed.

Now that Anna and Bella are the first known siblings with CASK, more research is needed to help with their diagnosis in addition to helping families across the world who have a loved one living with CASK.

Please feel free to ask any questions you may have, and every donation helps.