Why CDKL5.

I have chosen to raise funds for the research into CDKL5 UK and help raise more awareness for CDKL5. My best friend has the most wonderful, beautiful and happiest little girl who is affected by the genetic condition. With this condition being very rare it means that there is not all that much known about it and what causes it. With this fundraising page I want to try help push more money into their research and to help raise more awareness of this little known condition to help more children and families who are affected by it. 

CDKL5 is a rare genetic condition that mainly affects females, and was only recognised as a distinct entity in 2012. There are thought to be about 50 children and adults with a diagnosis of CDKL5 in the UK. We are a UK charity aiming to support affected families and to raise funds for research

What is CDKL5?

CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control, seizures, and severe neuro-developmental impairment. CDKL5 is classed as a rare disease, however more and more children and indeed adults are being diagnosed every day.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes, including the MECP2 gene (or Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. As time has gone on it appears that there might be other symptoms that play a role in the condition.

You can find out more information here: https://www.curecdkl5.org

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