CDKL5 UK News Letters

March 2013 

The history of  CDKL5 UK

A CDKL5 Parent Support was started in the form of a Yahoo Group in 2005 by Cheryl whose daughter Hannah had been diagnosed with CDKL5 in December 2005. Hannah was one of the first girls in the UK to be diagnosed with what is now called a CDKL5 disorder. 

With the development of social networking, a CDKL5 parent  support group was set up on Facebook in early 2010 through the work of another CDKL5 mum, Carol-Anne, whose daughter, Amber, has CDKL5. This group consisted of many of the yahoo group members, as well as others who had not been part of the yahoo group. For some, this has been the life line they have needed as most will not have met other families or children with the condition. The idea of a CDKL5 UK group arose from here.

In November 2011, the first meeting of CDKL5UK took place at the Hilton Northampton.  The meeting was incorporated into the annual Rett UK Family Weekend. This gave one of the first opportunities for families with children having CDKL5 to get together and have a good old chat.

A session was dedicated to CDKL5 UK and presentations were given by Dr. Hayley Archer from the Institute of Medical Genetics at the University Hospital of Wales, Cardiff, and from Carol-Anne Partridge and Sarah Skillicorn,  mothers of Amber and Gracie respectively.

Hayley Archer, pictured with Ellie and some of her new friends, was involved in the early research that identified mutations of the CDKL5 gene as a cause of neurodevelopmental delay.

These are their presentations which give a nice overview of current and planned research, and of the aims of CDKL5 UK.

In April 2012, a group of CDKL5 mums (and one CDKL5 sister) met in Manchester. Mums came from the UK, Ireland, Denmark and Norway. The scientific programme was apparently quite varied with considerable discussion about ....well, who knows. Somebody got lost on the way home (amazed really that only one got lost!) but overall, much fun was had by all. It must be CDKL5 dads turn next!!

In July 2012, Rett UK held a regional meeting down in Bristol. There was a presentation by CDKL5 UK on the history of CDKL5 in relation to Rett Syndrome, a review of the science regarding genetics and mutations, and a look at what research has suggested about the role of CDKL5. There was news about a forthcoming publication on the phenotypes of children with CDKL5 and that a knockout mouse for CDKL5 has been created which will hopefully allow more detailed research in the future. There were also talks on eye-gaze technology, on research into breathing disorders being undertaken at Bristol University and on speech and language therapy. Many thanks to Rett UK for organising the meeting and giving CDKL5 UK the opportunity to present... and please note....we have 3 sets of crossed-legs!!

On the 25th September 2012, CDKL5 UK officially acquired charitable status - and so the work begins!!  CDKL5UK registered charity number 1149099 . Well done and thank you Carol-Anne!!

CDKL5UK held it's first Trustee Board meeting on the 4th November 2012 in Birmingham. You can tell by the serious expressions on their faces that they really mean business!!!

CDKL5UK also became a partner of Rare Disease UK

Click HERE to go to the CDKL5 UK website. 

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