Hello, my name is Martyn and I live in Leicestershire, in the UK, with my wife Teresa, and our 2 daughters, Hannah and Ellie, and a dog called Max. Ellie was born in 1997 and at about the age of 5 weeks started having seizures. She subsequently developed severe learning difficulties with developmental delay. In 2010, at the age of 13, she was diagnosed with the rare genetic condition CDKL5.
When Ellie was first diagnosed, we found it very difficult to find and collate information about the different aspects of the condition. On this website, therefore, as well as our own story, from when we first became aware of Ellie's potential disability up to where we are at the present time, you will also find information about the science behind CDKL5 as well as reviews of past and current research.
CDKL5, or CDKL5 Deficiency Syndrome is a rare genetic condition that mainly affects girls. It is caused by defects in a protein, called CDKL5, which occur due to mutations in its gene located on the X-chromosome. It is not known what the protein does, although research is starting to provide some answers. The CDKL5 protein obviously has an important role in early brain development.
What we do know is that as result of mutations in the gene, affected children begin to suffer epileptic seizures, usually in their first few weeks or months of life. They subsequently have severe developmental delay, do not usually develop the ability to walk or talk, and are completely dependent for their needs. In addition, they commonly suffer a number of other problems including, visual impairment, reflux (often requiring surgery) and musculo-skeletal problems. In Ellie, we have also seen wild mood swings, where she can go from being manically happy to miserably grumpy or cross. She also has a very erratic sleep pattern, which we assume is due to her epilepsy.
Neurodevelopmental delay due to mutations in the CDKL5 gene were only first identified in 2004. Prior to that children were thought to have a variation of another condition, called Rett Syndrome, that has similar features. However, it is now clear that CDKL5 is a distinct clinical condition. There are currently thought to be over 1200 children in the world who are known to have CDKL5 and about 50 to 60 of these are in the UK. Given that there are about 60 million people in the UK, you could say that Ellie is one in a million.
In 2012, a new charity, CDKL5 UK (registered charity number - 1149099) was set up to support families with children who have CDKL5.
CDKL5 UK was an Official Charity Partner of Leicester Tigers for 2012-13.
CDKL5 UK was an official charity of Spire Leicester Hospital for 2013.
Most of the information here can be found by surfing the net - I have tried to collate the relevant bits into this one site. I have also tried to make the science (as far as I can understand it) as easy to read and as accurate as possible. If you think there are mistakes or you don't understand something, then please contact me. If you do have concerns about your own child or relative, then you should contact your own family doctor (that's my medical disclaimer bit !).