About Us

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 (RIP). 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.

What is CDKL5?

CDKL5 Deficiency 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.

CDKL5 is a distinct condition in its own right...

Neurodevelopmental delay due to mutations in the CDKL5 gene was 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. The incidence of CDKL5  has been estimated to be 2 to 3 new cases for every 100,000 births. 

Ellie on camera...

Rainbows £4 million new facility gets a regal opening.  April 2011 - Countryside La Vie  Online

Ellie likes the new chair on her swing.  April 2014 - Swing Away

Ellie auditions for the Rolling Stones.  July 2014 - Bouncing in Isla

A day in the life of a CDKL5 mum. September 2014 - Leicestershire Family Voice

Happy birthday Ellie.....!  April 2015 - Ellie's 18th Birthday Party

Ellie chilling out. December 2015. - Amazing Grace

When Ellie met the Fisherman's Friends. August 2018 - Rocking in Port Isaac

Rocking in Lockdown. June 2020 - Rocking in Lockdown

Other CDKL5 Sites


International Foundation for CDKL5 Research

CDKL5 Canada

CDKL-5 Netherlands

you can also follow Supporting CDKL5  on facebook


These are individual stories about how families have been affected by CDKL5 - please let me know if you would like a link adding

Families Blogs         Amber    Ava Marie    Emmalin    Gracie    Jade    Harper    Maria Carolina    Marie   Naomi   Paul

Videos                        Amber   Brenda   Gracie   Hannah   Iouna   Keegan   Lily   Monica   Zoe


Web presentations from IFCR        February 2013 - Celebrating Rare Disease Day

Please also have a look at this   CDKL5 video    by Barry Pavesi


You can follow on facebook  . 


In 2012, a new charity,  CDKL5 UK (registered charity number - 1149099) was set up to  support families with children who have CDKL5.

Supporters of CDKL5 UK

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 !).


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