Mila's Journey - CDKL5

Our daughter Mila was diagnosed with epilepsy at just four weeks old.

After multiple tests, including MRIs, EEGs, and blood tests, she was confirmed to have seizures. Mila was prescribed multiple medications and was sent home to await genetic results.

In November 2023, she was diagnosed with CDKL5 deficiency disorder, a rare developmental epileptic encephalopathy caused by genetic changes in the CDKL5 gene. The hallmarks of CDD include early seizures and severe neurodevelopmental delay impacting cognitive, motor, speech, and visual function.

This was life changing for our young family, and the past year and a bit has been a tough journey. Having our whole lives turned upside down in a day. Being told our daughter may never walk, talk, feed herself or have much quality of life.

Mila is now 1.5 years old and is still having daily seizures which we are working so hard to minimise. With minimal progress and limited ability to hold her head fully, sit unassisted, communicate and difficulty with her vision etc.

We are a young family on a single income, hoping to fundraise to be able to take Mila to intensive therapy, which is supposed to be very beneficial for the development of children with disabilities... We are determined to get her there, support her and try anything to give her the best quality of life possible!

We are seeking support for our daughter's journey, aiming to improve her quality of life and independence and will be forever grateful for any support x