CDKL5 UK

26/11/2025

Bethan, CDKL5 UKs Development and Engagement Champion, is at the Manchester Rare Disease Showcase today representing CDKL5 UK and the wider CDKL5 community.

The event, organised in collaboration with Beacon, a UK-based rare disease charity, brings together voices from across the rare condition community and highlights the extraordinary work happening in patient groups, research, clinical care, policy, and industry.

It’s a wonderful opportunity to connect with and learn from fellow patient organisations, families, researchers, and clinicians as we work together to tackle the complex challenges faced by those living with rare conditions, all the while raising awareness of CDKL5 and the fantastic work of CDKL5 UK 💙💜💚

24/11/2025

Just re-sharing this. Carol-Anne our chair has spent the day with the PI Felix Chan, Felix would like some more Dads to sign up for this questionnaire! So if you haven’t already done so it really doesn’t take too long

🧠 Seeking Participants for the ESPER Study!

Dr Felix Chan and his team at the University of Birmingham are recruiting adults for the ESPER study, which aims to measure and better understand sleep in people affected by epilepsy.

They want to hear from adults who are part of the epilepsy community, including:
- Adults living with epilepsy
- Adult caregivers (current or past)
- Adult supporters/bereaved of people with epilepsy

The team also want to hear from adults who are unaffected by epilepsy, as they will be included in the comparison group.

If you are interested, please fill out the quick interest form:

➡️ https://forms.office.com/Pages/ResponsePage.aspx?id=z8oksN7eQUKhXDyX1VPp85UDx6FzrURFuz-prwyEdalUNVdSUkIwWlIxMDVHODZKWVIwTzVBUEZWRi4u

You can also scan the QR code on the attached poster. Your involvement is valuable to this important research. Please share!

20/11/2025

💚💚💚

💜 Lighting a Candle for Ruby

Today marks one year since the passing of Ruby Leigh Pollard — a bright, joyful little girl whose courage continues to light the way for everyone affected by Rett syndrome.

Across the world, families and friends in the Rett community are lighting candles today in Ruby’s honour and remembrance.

💜 Forever remembered. Forever loved 💜

20/11/2025

🧠 Seeking Participants for the ESPER Study!

Dr Felix Chan and his team at the University of Birmingham are recruiting adults for the ESPER study, which aims to measure and better understand sleep in people affected by epilepsy.

They want to hear from adults who are part of the epilepsy community, including:
- Adults living with epilepsy
- Adult caregivers (current or past)
- Adult supporters/bereaved of people with epilepsy

The team also want to hear from adults who are unaffected by epilepsy, as they will be included in the comparison group.

If you are interested, please fill out the quick interest form:

➡️ https://forms.office.com/Pages/ResponsePage.aspx?id=z8oksN7eQUKhXDyX1VPp85UDx6FzrURFuz-prwyEdalUNVdSUkIwWlIxMDVHODZKWVIwTzVBUEZWRi4u

You can also scan the QR code on the attached poster. Your involvement is valuable to this important research. Please share!

14/11/2025

The wonderful Julie Benson from Rett UK, talking about her Sister and something we all can relate to. Thank you Julie 💚

13/11/2025

We will be thinking of Ruby and her family and the entire Rett community on 20th November, if you can light a candle 🕯️ for this beautiful girl, and the courage she and her family have shown.

💜 Remembering Ruby Leigh Pollard

One year ago, the Rett community experienced an immeasurable loss.

Ruby Leigh Pollard, a bright, joyful little girl and the first child in the UK and Europe to receive gene therapy for Rett syndrome, died following treatment due to a rare, known complication of high dose AAV9 gene delivery.

As we approach the anniversary of her passing, Ruby’s family have shared her story — a story of laughter, music, and love, and of the incredible courage that continues to light the path for others.

We are deeply honoured to dedicate this year’s Reverse Rett Gala film to Ruby, and to share her family’s words with you.

💜 Read Ruby’s story → https://bit.ly/RememberingRuby

💜 Join us on 20th November 2025, when we invite the global Rett syndrome community to come together and light a candle for Ruby — a special little girl whose courage and light continue to guide us all.

Ruby Leigh Pollard
31 January 2017 – 20 November 2024
Forever remembered by her family, friends, and the Rett community.

04/11/2025

💜 November is Epilepsy Awareness Month! 💜

As November begins, we join the global community in recognising Epilepsy Awareness Month. This is a crucial time to elevate the conversation, fight stigma, and reinforce the need for vital research and support for the millions of people living with this common neurological condition.

Epilepsy is a core feature of CDKL5 deficiency disorder (CDD), and it impacts every aspect of family life. People diagnosed with CDD often experience the onset of very early seizures, often within the first three months of life. These can range from mild to severe, and can sometimes be frequent and difficult to control using medicines currently available. Seizure types can vary over time, and can include tonic-clonic, myoclonic, tonic and focal seizures.

In individuals with CDD who cannot communicate verbally, caregivers must rely solely on observation to monitor seizures and assess medication side effects. This makes management extremely challenging and requires constant vigilance to try and balance seizure control with maximizing comfort.

How does epilepsy and CDD affect you or your loved one? Share your experience below, and help raise awareness.

27/10/2025

We are delighted to be in Boston for the years CDKL5 Forum, this year we also have a joint poster with the CDKL5 Centre of Excellence, which Carol-Anne Partridge, our chair and Professor Sam Amin will present. Day 1 starts today ,

25/10/2025

✨MEET THE PEOPLE BEHIND E+A ✨
📌 Introducing our Member Founder - Carol Anne Partridge

💬 “CDKL5 UK is delighted to be part of the E+ Alliance (E+A), a European network uniting patient organisations, clinicians, and researchers to improve the lives of those affected by rare epilepsies.

Through E+A, we can learn from larger charities, share best practice, and strengthen our own services to better support the CDKL5 community. It also provides a space for patient leaders to support one another, collaborate across conditions, and amplify our collective voice.

Together, we’re learning, growing, and driving change - ensuring that every person living with a rare epilepsy feels understood, supported, and never alone.”
- Carol Anne Partridge, Member Founder of E+A and Chair of CDKL5 UK

📍 Stay tuned to meet all the founders and members of E+A

10/10/2025

🌍💚 World Mental Health Day 2025💚

On this day we would like to highlight an important service we provide. We recognise every family living with CDKL5 Deficiency Disorder carries both love and emotional load. Our pilot counselling service with Rareminds has shown just how vital dedicated mental health support can be.

💬 “It gave me a safe space to express both the highs and the lows.”
💬 “I could finally say things I’d never said to anyone before.”
💬 “After many years on this journey, I feel ready to face what comes next.”

In our first year, 36 sessions (as of June) had been delivered to parents, and every person said they now feel better able to manage the emotional impact of their journey, and would recommend the service to others.

Because supporting rare families means caring for the carers too. 💜



If you would like to access this service, which is open to UK families only, then please email [email protected] and you will be sent information on how you can self-refer into the Rareminds service.

29/09/2025

We are aware that there has been some speculation within the CDKL5 community regarding the Ultragenyx gene therapy programme. Recently, CDKL5 UK, alongside other advocacy group leaders, met with the Ultragenyx team, who shared a helpful update with us. The encouraging news is that they remain committed to advancing their UX055 gene therapy programme for CDKL5.

29th September 2025

24/07/2025

📢 Calling all CDKL5 Fundraising Champions! 📢

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Let's maximise our fundraising together! 💚