CDKL5 UK is a small charity dedicated to supporting individuals and families with a diagnosis of CDKL5
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What is CDKL5 Deficiency Disorder (CDD)?
CDKL5 (also known as CDKL5 deficiency disorder or CDD) is a rare X-linked genetic condition that results in early-onset seizures and a delay in brain development.
CDKL5 is classed as a rare condition, with a prevalence of 1:42,000. There are many children and adults living with CDKL5 worldwide.
Symptoms vary from mild to severe, depending on the individual – every person with CDKL5 is different.
CDKL5 Centre of Excellence
(Virtual Clinic)
The CDKL5 Centre of Excellence, as recognised by NHS England, is located at Bristol Royal Hospital for Children, and is specifically for children and adults with CDKL5 in the UK.
Led by Consultant Paediatric Neurologist and CDKL5-specialist doctor – Dr Sam Amin – this online clinic exists to support the holistic care of your child, in partnership with your local medical team, by providing specialist clinical input as well as focused pastoral care and support.
Our Partnerships
Take a look at the other amazing organisations we have partnered with to ensure that we can better support families with a diagnosis of CDKL5.
Supporting you every step of the way
We recognise that every family’s journey with CDKL5 is unique, and we are here to provide understanding, encouragement, and practical support every step of the way.
Whether you need guidance on forms, social care, health care, or just someone who understands to talk to, CDKL5 UK is here for you.
If you would like to speak to us or learn more about our counselling service, please reach out to us.
You are not alone – we are in this together.
Newly diagnosed?
You are not alone.
You may be feeling a whole range of emotions, but the fact you are seeking out information is a good thing.
We have put together a downloadable information booklet which will give you a basic understanding of this rare condition and what to do if you or someone you love has been diagnosed.
It’s important to note that CDKL5 is a complex condition with lots of different symptoms. Each symptom can vary, meaning they might be severe for some people, but milder for others. Some people may not experience certain symptoms at all.
Everyone with CDKL5 is affected differently – no two people are the same, although there are some trends and patterns.
If you have any particular questions or concerns, it’s always best to speak to a CDKL5-specialist doctor – more information on this and how to be referred to the CDKL5 Centre of Excellence can be found in the booklet.
Learning about CDKL5 Deficiency Disorder (CDD): A Guide for Young Siblings, Cousins and Friends
Super Siblings, Cousins and Friends – you are important too!
We know that being a brother or sister (also called a sibling), a cousin or friend of someone with CDKL5 can be full of love, questions, and maybe even some tough days. You might wonder why the person you know with CDKL5 does things a little differently or why they need extra help. And that’s okay!
This booklet can help you to understanding more about CDKL5, what it means for your family, and most importantly, how amazing you are for being a part of the person you know with CDKL5’s life.
*NEW* Gene Therapy for CDKL5
Introducing our *New* Gene Therapy for CDKL5 Guide – a comprehensive resource designed to support families and carers as they navigate the complex landscape of clinical trials.
We understand that considering a gene therapy trial if a life-changing decision that can feel overwhelming.
This guide is here to help you weigh the potential benefits against the risks.
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Donate or raise funds to help us carry out our work
We rely on the generosity of our supporters to raise vital funds to help us carry out our work.
Whether it’s to provide support to individuals and families who are affected by CDKL5, to fund important research into new and innovative treatments, or to support the new generation of CDKL5 researchers and CDKL5 Champions – the people dedicating their lives to understanding and raising awareness of CDKL5 – we need YOUR help to help us better the lives of everyone affected by this rare and complex condition.
Parent Quote
CDKL5 is a blessing in a really ugly disguise. My daughter taught me more than I could ever teach her, Mum To Louise