Cure CDKL5

A great first day at the RCPCH conference. Surprising how many paediatricians don’t know what CDKL5 is, still! This proves we still have a long way to go. Made some great connections! “The other half” did a great job and enjoyed his “volunteer day”. I’ve already acted on some recommendations from people I know about getting in touch with epilepsy nurses! Acted on it, had a reply, so all in motion! Tomorrow I am joined by one of our trustees, Ruth and hoping for another great day #CDKL5Awareness #rcpch2026

We are all set up ready for 3 days at the Royal College of Paediatrics and Child Health ((RCPCH) Annual Conference in Birmingham. Today I am joined by co-founder and former trustee Adrian (hubbie) who’s taken a volunteer day to support CDKL5 UK. Hoping to raise awareness amongst the paediatric community of CDKL5, especially as they are generally the first clinicians who see our kids! - Carol-Anne #cdkl5awareness

Today is International Women's Day, and we’re celebrating the powerhouse women who drive our CDKL5 community forward with such heart and dedication. 💜✨ We want to give a massive shout-out to our patient advocates, dedicated trustees and the incredible volunteers who give their time and energy so generously. Your passion and commitment are the bedrock of the progress we make together for the global CDKL5 Community. To the professionals working across the CDKL5 field: from researchers in labs to clinicians in clinics: thank you for your tireless work to unlock a brighter future. Most importantly, we want to share a heartfelt thank you with the amazing children and women living with CDKL5. You inspire us every single day with your resilience and your spirit. Together, you aren't just part of the story; you are the ones writing it. 🌸💪 Drop a 💜 in the comments to celebrate a powerhouse woman in your life today! #internationalwomensday #IWD2026 #cdkl5uk #CureCDKL5 #RareDiseaseCommunity #cdkl5warriors #cdkl5champions #StrongerTogether

Today is the big day! We are so excited to finally share the recording of our 'Science to Hope' webinar. But this isn't just any recording: thanks to the incredible, tireless efforts of our global CDKL5 community, this video has already been translated and reviewed by members from the CDKL5 community - into 10 different languages! To every single person who volunteered their time, their voice, and their expertise to make this happen: thank you. You are the reason we can bring this vital information to families all over the world, breaking down barriers and sharing hope in every corner of the globe. Whether you're a parent, a researcher, or a dedicated advocate, your contribution means that more people than ever will have access to the latest insights into CDKL5 Deficiency Disorder. This is what community looks like in action. You can watch the recording by clicking this link youtu.be/r11s9tUHEcA?si… You can also find the easy read summaries on our website: curecdkl5.org.uk/elj-101-your-g… For subtitles in your language? Reach out to us and we can make that happen. Stay tuned this upcoming week for more drops with easy-read summaries, highlights and guides. #CDKL5 #ScienceToHope #CDKL5Champions #RareDisease #GlobalCommunity #StrongerTogether #CDKL5Awareness #Hope

We’ve got some great news to share from Mamad’s lab at FutureNeuro at Royal College of Surgeons, Ireland! 🧬✨ A recent study in ‘Epilepsia Open’ has hit a major milestone. This research team is the first to establish a CDKL5 mouse model where seizures can be consistently induced using sound (audiogenic seizures). Why is this such a big deal? 🤔 In the past, studying CDKL5 seizures in the lab was tricky because they didn't always happen predictably. This lab has changed the game! By being able to trigger a seizure on demand, scientists now have a reliable way to test if new medicines are actually working. It’s like having a clear "on/off" switch to measure a drug’s effectiveness. 🧪🔬 This discovery is incredibly close to home for our community, as many of our CDKL5 warriors experience reflex seizures from external triggers. We are so proud to see researchers pushing boundaries and creating the tools we need to find a cure. 💜 You can find the article here doi.org/10.1002/epi4.7… #CDKL5 #CDD #RareDisease #ResearchBreakthrough #CDKL5UK #CureCDKL5 #EpilepsyResearch #ScienceHope #CDKL5Champions

Registration open — Rare Disease Day webinar: ELJ-101 update for CDD 💙✨ CDD families & caregivers are invited to “Update on ELJ-101: A gene therapy for CDD” — a live virtual Zoom webinar with the latest on the ELJ-101 gene therapy program, including what’s coming next. This is Webinar 1 in our 3-part 2026 series: “From Science to Hope: Walking the Path towards CDKL5 Gene Therapy,” created with the Global CDKL5 community. 🕒 Time • UTC: 2:00–3:30 PM • Regional: o US/Canada Eastern (EST): 9:00–10:30 AM o LATAM: 9:00–10:30 AM Peru (PET) | 11:00 AM–12:30 PM Brazil (BRT) o UK (GMT): 2:00–3:30 PM o Europe (CET): 3:00–4:30 PM o MENA (GST): 6:00–7:30 PM o APAC (SGT/HKT): 10:00–11:30 PM ✅ Register here: us06web.zoom.us/webinar/regist… ⏳ Registration closes: Feb 28 at 9:00 AM (UTC) 🌐 Translated captions: available (36+ languages) 🎥 Recording: posted online one week after (link to be sent to all registrants) ❓ Webinar questions: submit in advance via the registration form, or ask during the live Q&A. 📩 Registration/access questions: email carolanne@cdkl5uk.org or DM us. #RareDiseaseDay2026 #CDKL5 #CDD #RareDisease

🌍 *SAVE THE DATE — Feb 28 (Rare Disease Day)* We’re excited to invite CDD families & caregivers to "Update on ELJ-101: A gene therapy for CDD" - a virtual Zoom webinar presented by Elaaj Bio on the ELJ-101 gene therapy program for CDD, including what’s next. This is the first webinar in the 3-part series planned for 2026, "From Science to Hope: Walking the Path towards CDKL5 Gene Therapy" co-produced by the Global CDKL5 community. ✨ Registration details coming soon ✨ Live time options coming to cover all time zones ✨ Translation options included ✨ Register in advance to submit questions ✨ Recording made available to registered attendees Join us to mark Rare Disease Day 2026 together as a community! Questions? Reach out or DM us. And stay tuned for the next webinars: (2) what parents and caregivers may want to know about gene therapy, and (3) a closer look at what a clinical trial may involve. #rarediseaseday2026 #cdkl5 #CDD #RareDiseaseDay #DEE

💜 Huge thanks to everyone who joined us in St Stephen’s Green for #5KforCDKL5! And to Jonna Malone, @Cdkl5ireland member, for sharing what life is like with CDKL5 and why research matters. Still time to support 👉 gofundme.com/f/5forCDKL5

Beautiful as always 💚💚

World CDKL5 Awareness Day Today, on June 17th, we honour you, the incredible individuals, families, and caregivers who walk the CDKL5 journey with unwavering courage, love, and resilience. Whether you're navigating the heartbreak of early seizures, advocating for your child’s needs, pushing forward research, or simply showing up every day with strength, you are not alone. This day is for - The warriors who live with CDKL5 Deficiency Disorder or who have lived with CDKL5 are are no longer with us - The parents who fight tirelessly for answers, care, and hope - The siblings who grow up alongside strength and sacrifice - The researchers, doctors, and therapists working toward better treatments and a cure - And the global CDKL5 community that stands as one, lifting each other up We see you. We honour your story. And we believe in a future where CDKL5 no longer limits lives. Let’s keep sharing, connecting, and advocating - because awareness fuels hope, and hope drives change. #CDKL5Awareness #worldcdkl5day #CDKL5Family #HopeForCDD #StrongerTogether

NEW PUBLICATION ALER We are excited to share the publication we’ve been eagerly waiting for, a fantastic example of patients as partners in action! This collaborative project, funded by Orion Pharma, brought together patient advocacy groups, medical and research professionals, and industry to expand what we know about CDKL5 Deficiency Disorder. A heartfelt thank you to all the families who took the time to complete the survey, understand how often you’re asked, and your voice truly matters. These insights are especially important in shaping the path to drug approvals. Huge thanks to everyone involved! 💜 #CDKL5 #CDKL5Champions #PatientsAsPartners formative.jmir.org/2025/1/e72489

We had a brilliant 24 hours in Barcelona for the launch of a new Complex and Rare Epilepsies Alliance in Europe of which CDKL5 UK is a founding member under the direction of Carol-Anne our chair. Carol-Anne and Matt Bolz-Johnson delivered a mental health workshop which was powerful, and emotional - as these things generally are, with topics such as burn out, secondary trauma and the fact it’s ok to be vulnerable sometimes. Some great tips and tools shared by the various organisations on how they support supports families and young people it was also great to catch up with fellow CDKL5 Advocates from the USA #IFCR and #CDKL5Slovakia #all4epilepsies #all4E+ #CDKL5

✨We're very excited to kick off the 1st European Meeting of all associations dedicated to Rare and Complex Epilepsies in Barcelona! It has been coordinated by the ePAG (European Patient Advocacy Group) representatives within EpiCARE, and more than 250 associations have been invited to join.

Take a moment to listen to Carol-Anne, our co-founder and chair, as she shares her journey with her daughter Amber—diagnosed with CDKL5 at age 4. Over the past 20 years, Carol-Anne has learned how to connect with Amber, who is non-verbal, through non-verbal cues and intensive interaction. Her story highlights the importance of looking after ourselves as carers, and remembering the needs of brothers and sisters too. Learning how to truly support our children’s wellbeing can take time, but it’s just as vital to care for our own. Amber turns 20 today, happy birthday to this beautiful girl! Listen here for free #cdkl5 #intensiveinteraction #carers open.spotify.com/episode/5tpGPq…

💐🌹🌻 Happy Mother's Day 🌻🌷💐 Today, we celebrate the strength, resilience, and boundless love of mums, step-mums, foster-mums, carer-mums and grandmothers everywhere, but especially those whose children are living with CDKL5 Deficiency Disorder (CDD). Your journey is one that many may not fully understand, but your courage shines brightly every day - advocating for your children’s care, treatment, and quality of life - this road is not easy, and it may not always feel fair, but your love and dedication are unmatched. On this special day, we want to remind you that you are seen, you are appreciated, and you are loved. You inspire us every day. Happy Mother’s Day to all of the incredible mums, step-mums, foster-mums, carer-mums and grandmothers, raising children and adults living with CDD. For those bereaved Mums, you are forever in our thoughts. Your love makes all the difference, and you are forever a beacon of hope 💜💚 #Mothersday2025 #cdkl5champions #InspiringMothers #cdkl5uk #cdkl5

Today is #PurpleDay2025 an international day to increase awareness of epilepsy and it's effects. Did you know? 💜 65% Million people have epilepsy worldwide 💜 1 in 100 people are estimated to have epilepsy 💜 In 50% of cases, the cause of epilepsy is unknown Epilepsy is a common symptom of CDKL5 Deficiency Disorder (CDD). Most children with CDD experience seizures that begin within the first eight months of life. These seizures can be difficult to control using the medicines that are currently available via the NHS. This is called refractory epilepsy. Some children and adults with CDD experience mild or well-controlled seizures, and some do not experience seizures at all. CDD affects each person differently. Seizures can change over time. It's important to monitor yours / your child's epilepsy, and ensure that any noticeable changes are reported to the Neurologist or epilepsy specialist at your local hospital. You can also contact the CDKL5 Centre of Excellence to speak to a CDD-specialist doctor about your epilepsy. More information can be found on our website: curecdkl5.org.uk/cdkl5-centre-o… #PurpleDay2025 #purpleday #epilepsyawareness #cdkl5uk #cdkl5uk #cdkl5champion #CDKL5Awareness #seizures

Flowers are blooming and tree buds are budding, which can only mean one thing - today is the first day of Spring 🌿🌻🌷 Night and day are equal in length, 12 hours each, a balance of light and dark ☀️🌕 Spring-time symbolises renewal and growth, and is often associated with new beginnings, hope and looking forward to what the future holds... Lots of new and exciting things are taking place here at CDKL5 UK, including our first ever e-newsletter, which is due to hit inboxes really soon. Bringing you key CDKL5 updates, our regular e-newsletter will include charity news, involvement opportunities, important research updates, fundraising highlights, and support and information resources - all straight to your inbox! Sign up here to receive our regular e-newsletter, if you haven’t already: 📧 curecdkl5.org.uk/sign-up/ 📧 #spring #cdkl5 #newsletter #charity #cdkl5uk #springtime

@HaveringDaily @Ruthyphro Beautiful written Ruth xx

A very moving piece by the lovely @Ruthyphro thehaveringdaily.co.uk/2025/02/28/mar…