About Us

My name is Martyn and I live in Leicester, 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.

I have developed this Supporting CDKL5  website to raise awareness of CDKL5 in the UK, to help provide information to other families who have children with CDKL5 and hopefully encourage and facilitate fund-raising events to support research into 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?

A CDKL5 disorder 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 and probably more questions. The CDKL5 gene and its protein obviously have an important role in early brain development.

What we do know is that as result of mutations in this 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 becoming clear that CDKL5 should be considered as a distinct entity. There are currently thought to be over 500 children in the world who are known to have a CDKL5 disorder 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.

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 !).

Supporting CDKL5 research through CDKL5 UK

Supporting CDKL5  is not a charity, nor are we seeking donations for ourselves. However, in 2012, a new charity,  CDKL5 UK (registered charity number 1149099)  was set up to  support families with children who have a CDKL5 disorder, and to raise funds for research.

I have set up a JustGiving page that will donate directly to CDKL5 UK. Therefore, if anyone is planning to be involved in a fund-raising event and is looking for a charity to support, then we would ask that you consider supporting CDKL5 UK.  

Please click on  Supporting-CDKL5 UK  which donates directly into CDKL5 UK  charitable funds.


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

Supporting CDKL5  and CDKL5 UK  are also members of  Rare Disease  UK

Ellie in the media

Bigger, better hospice helping more ill children.  February 2011 - Leicester Mercury

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

Ellie at Rainbows.  December 2012 - Jeremy Kyle Christmas Show

"Her condition is so rare, we used to call it Ellie's syndrome."  March 2014 - Leicester Mercury

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

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

Other CDKL5 Sites

CDKL5 UK 

International Foundation for CDKL5 Research

CDKL5 Canada

www.facebook.com/groups/cdkl5  - CDKL5 family support group on Facebook

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         Alexis Amber      Amber    Ava Marie    Emmalin    Gracie    Jade    Harper    Maria Carolina    Marie   Naomi   Paul

Videos                        Amber   Avery   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


Contact   

If you require  further information , you can  contact me via email or on twitter at  @docnewey                            

   "Hello......I'm Max !"