"I thought I would have to teach my daughter about the world. It turns out I have to teach the world about my daughter." - Unknown
Life couldn't have been better. A little darling, her parents always dreamed of, arrived in their lives. What a wonderful and unexpected gift. Julia was born on June 22, 2010. Three weeks later life as they knew it would never be the same. Julia started having seizures and the nightmare began: countless visits to hospitals and emergency rooms; doctors, nurses, and specialists invaded their lives and they were constantly in a confused state of mind. What is happening to her? And why? When the doctors told them it could be epilepsy, concern grew. Little did they know there was much worse news to come. The genetic test results came - cruel, brutal, and unreal.
CDKL5 is a vey rare genetic mutation on the X chromosome, which leads to a devastating disease. CDKL5 was only recently discovered as one of the rare diseases in children and there is currently no cure for it. The mutation occurs spontaneously and randomly, every mother in the world gets the same probability no matter what the circumstances; age, color, geographical area, social status do not count. Julia's parents are not carrying the mutation; it is new in Julia's genome. That's when they started to grieve for the little girl they would never have. Julia may never walk or talk and many complications put her life in danger every day. Even in their worst nightmares, they couldn't have imagined that their daughter would not be calling them "mama and papa".
But there is hope. Geneticists and medical scientists believe that finding a cure for CDKL5 is possible, and Julia, and other children affected by CDKL5, might have a chance. Currently there is no funding for research or therapies, and the medicines that children like Julia have to take everyday are extremely expensive. For these reasons, we are relying on your support for helping with Julia's medical expenses and with funding for the CDKL5 research.
Julia's story is one of spirit and hope.