CDKL5 in Color

Episode 40: Let's Talk About Moments of JoyLife with CDKL5 is filled with uncertainty, difficult decision-making, and sometimes heartbreak, but there are also moments of joy, so let’s talk about them. Taking time to recognize the moments in life that spark joy for us as parent caregivers can be a boost for our mental health. In fact, actively engaging in “micro-acts” of joy has been shown to lead to greater well-being, better coping, less stress, and more satisfaction with relationships.This episode comes out over Mother’s Day weekend. We know it can be an emotional holiday, so if you’re feeling unpleasant at all, please know that we are sending love your way.SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS: Article: Can little actions bring big joy? Researchers find 'micro-acts' can boost well-beingThe BIG JOY Project: Try your first micro-act of JOY now!Article: The Power of Positive: Reframing a Negative Outlook988 Crisis Line

Episode 39: Let’s Just Chat!Sometimes it’s good just to chat. In this latest episode, we talk about what’s been on our minds of late. We talk about the ongoing challenges we face with home nursing and respite, how the upcoming federal budget for 2027 may impact our families and what we can do to advocate, and we talk MEGA COLON - it’s a variety! Have a listen!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS:Colorado Consumer-Directed Attendant Support Services (CDASS)Council of Parent Attorneys and AdvocatesIDEA - Individuals with Disabilities Education ActThe Arc: Education Policy and AdvocacyFind Your Representatives in CongressWaivers: HCBS Home & Community-Based Services 1915(c)Kids’ Waivers - state by state listCleveland Clinic: PeristalsisCleveland Clinic: BisacodylDEE-P Webinar: Navigating GI InterventionsCleveland Clinic: Intussusception

Episode 38: Aditi’s Life with Ria (age 6)Parenthood changes us, no question, but the adjustments we make when parenting a child with medical complexities and disabilities takes the experience to another level. In this latest episode, you’ll hear Aditi’s experiences raising her feisty eldest daughter, Ria, who lives with CDKL5 Deficiency Disorder. We talk about the intensities of caregiving and the impact this life has on siblings, including worries about the future. We also explore the benefits of finding a school program that works, the need for more support at home for a high-energy child, and the lack of spaces where families can be comfortable and happy as a whole unit.Thanks for joining us, Aditi!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS:ABA Therapy - Applied Behavior AnalysisArticle: Always Coping, Rarely Seen: Explaining Glass Child SyndromeEpisode 3: Rachel’s Life with MimiArticle: Taking Care of YOU: Self-Care for Family Caregivers

Episode 37: Let’s Talk About Gene TherapyGene therapy is on people’s minds, so let’s talk about it! What is known, what is unknown, and how are we meant to make sense of it all? We know from the quiz that we put out in September that, while most respondents had a decent understanding of the basics of gene therapy as a treatment approach, the majority did not understand the CDKL5 gene therapy landscape nor the average timeline and costs associated with bringing a treatment like this to humans. In this episode, we talk about what we see happening and share our thoughts about these treatments that aim to get at the root cause of CDKL5 deficiency disorder. We also talk about what we can be doing as caregivers to support our loved ones in the here and now while we await the treatments of the future.Episode recorded March 18, 2026.SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS:Ultragenyx Gene TherapyUltragenyx WebsiteNovember 2021 Webinar - Gene Therapy: A Conversation With Dr Benke & UltragenyxAugust 2022 Webinar - CDD Research Updates from UltragenyxNovember 2022 - Ultragenyx Community Update LetterFebruary 2023 Webinar - Ultragenyx Preclinical UXO55 UpdateNovember 2023 - Ultragenyx Community Update LetterApril 2024 - Ultragenyx Community Update LetterSeptember 2025 Facebook Post - PAG Community Letter re: UltragenyxElaaj Bio Gene TherapyElaaj Bio WebsiteFebruary 2026 Webinar: Update on ELJ-101: A gene therapy for CDDCDKL5 Forum 2025 Summary (includes links to prior year summaries)⁠Patient-Focused Drug Development (PFDD) meeting with the FDA "Voice of the Patient Report"⁠CDKL5 Gene Therapy (Jainu Jogani)www.CDKL5GeneTherapy.comOctober 2025 Webinar: Gene Therapy for CDKL5: The History, Progress & Next StepsResources for CaregiversAmerican Society for Gene & Cell Therapy Patient EducationEnroll in the International CDKL5 Disorder Database!Episode 16: AcceptanceDEE-P Connections WebinarsBook: Caring for Children Who Have Severe Neurological Impairment: A Life with Grace by Julie M. Hauer, M.D.

Episode 36: Let’s Talk About Bathing Our KidsEither love it or hate it (or somewhere in between), bathing our kids is part of life. For many families living with CDKL5 Deficiency Disorder, bath time can be tricky due to positioning challenges, lifting and transferring, less-than-ideal spaces, or sensory issues. In this latest episode, we talk about how we manage, and we share equipment, tips, and tricks we use to keep our kids fresh and clean. We talk haircuts too!Shout out to the caregivers who chimed in on our Facebook post: Jenn, Lauren, Renee, Danielle, Kiera, Kim, Sarina, Taylor, Melissa, Christina, Heather, & Christine.SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS:Scrubzz Rinse Free Soap & Shampoo Bath SpongesWet Ones Body WipesShowerBuddy BathLyftTrakz - Bath Straddle System for TubRifton WAVE Chair and Transfer System for TubRifton MEDIUM HTS Hygiene and Toileting SystemFirefly Splashy ChairGlo Pals Water Activated Light Up Bath ToysTherapy WrapsArticle: Abdominal Massage for ConstipationeBook: Charlie Foundation - Keto Friendly Personal Care Products

Episode 35: AI Chat with Cure5 Co-Founder Andreas BorgHow can AI impact the future of CDKL5 research? We tackle this topic and more with our guest, CDKL5 Dad and Cure5 Foundation co-founder, Andreas Borg. His 4 year old daughter, Siena, lives with CDKL5 deficiency disorder. Andreas shares about Cure5 Foundation which has multiple drug repurposing projects in the pipeline for CDKL5, including one called EveryStone (leaving no stone unturned!). They also have a new tool on their website that uses AI technology to allow caregivers (and others) to ask questions directly to the existing body of CDKL5 research, and get answers back with citations in their own language. Technology is amazing! Thanks for joining us, Andreas!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!MENTIONED IN THE EPISODE:Cure5 Foundation WebsiteChat With Research Papers ToolYouTube: Cure5 Knowledge Engine - Caregiver ModeEveryStone ProjectSienaForLife on InstagramLouLou Foundation

Episode 34: Kim’s Life with LilyAnna (age 23)In our latest episode we welcome OG CDKL5 mama, Kim. She’s busy managing a large family in Arizona, which includes caregiving for her 23-year-old daughter, Lily, who lives with CDKL5 Deficiency Disorder. We talk all about the complexities Kim is navigating now that Lily is an adult, including lack of appropriate day programming, how adult medical care differs from pediatrics, and the ever-present challenge of finding respite care. Kim reflects on how caregiver advocacy doesn’t end when your child turns 18. The fight to ensure our children have what they need is an ongoing struggle, but we are powered by love to continue the fight. Thanks for joining us, Kim!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!MENTIONED IN THE EPISODE:Calm Amongst the Chaos - Kim’s BlogCAC Family Support (Arizona)Voice of the Patient Report: CDKL5Article: AAC Systems for CommunicationCDKL5 Mama Pilates on InstagramRyan House Respite in ArizonaKeifer Swim CollarGregory’s Swim Collar with HarnessRESOURCES:Book: Comprehensive Literacy for AllArticle: Essential Tips for Caregiver Lifting

Episode 33: Let’s Talk About Tube FeedingAdequate nutrition and hydration are the foundation of health. Unfortunately, it can be difficult for people living with CDKL5 Deficiency Disorder to take in all that they need to be well nourished or to maintain their growth curve. A feeding tube can help close the gap for oral eaters and is a necessity for anyone who cannot eat safely by mouth. In this episode, we talk about different types of feeding tubes, the variety of methods that tube feeds can be administered, and the options caregivers have when deciding what to feed through the tube. You’ll hear a lot from Marissa, whose son has been tube fed for many years. She shares about their journey to the tube and how she feeds her son a homemade blended diet.SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!MENTIONED IN THE EPISODE:Cleveland Clinic Article: Tube Feeding (Enteral Nutrition)Facebook Group Blenderized RNReal Food BlendsFree eBook: Blended Diet Recipes (includes Marissa’s blogs)GeneReviews: CDKL5Kohl’s Adaptive OnesiesBook: Homemade Blended Formula HandbookNatural Tube Feeding CourseFeeding Tube Awareness WeekRESOURCES:Article: SickKids-led study shows success with a blenderized diet for children with G-tubesPublication: Pureed by gastrostomy tube diet improves gagging and retching in children with fundoplicationPublication: Blenderized Enteral Nutrition Diet StudyPublication: Efficacy and Tolerance of Blended Diets in Children Receiving Gastrostomy FeedsPublication: Health Outcomes and Quality of Life Indices of Children Receiving Blenderized Feeds via Enteral Tube

Episode 32: Ali’s Life with Raegan (age 5)In this episode, we welcome Ali to the podcast to talk about life with her five-year-old daughter, Raegan. We touch on topics that all CDKL5 caregivers can relate to. How to find therapies that work, especially when living in rural areas. Navigating the transition into the school system. Earning income when employment feels impossible. And, of course, the isolation that comes with being an at-home caregiver providing full-time and total care for your child. Ali’s descriptions of her daughter will make you smile - she’s a spitfire! Their relationship is special. After all, there’s no one quite like mom. Thanks for joining us, Ali!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] you to our 2026 Airwave Ally Sponsor - UCB Pharma!MENTIONED IN THE EPISODE:Barometric Pressure and Seizure Increases (article)EPSY Seizure Tracking AppArticle: How does CVI affect skill development beyond vision?Georgia GAPP ProgramResource Guide: Educational Advocacy

Episode 31: Let’s Ring Out 2025It’s been a great year for us at CDKL5 in Color! Thank you to all our listeners and supporters. YOU are the reason behind it all and we are grateful. To ring out the year, we asked our listeners to share with us their celebrations, challenges, wisdom, worries, wonders, hopes - anything about life with CDKL5 that reflects on how 2025 went or that looks towards 2026. We share our own thoughts as well. Wishing you all a peaceful end to the year and we can’t wait to continue the conversations in 2026!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:UCB presents positive results from GEMZ phase 3 study at AES showing fenfluramine significantly reduces countable motor seizure frequency in CDKL5 Deficiency Disorder2025 CDKL5 in Color WRAPPEDEPSDT (Early and Periodic Screening, Diagnostic, and Treatment) is a crucial Medicaid law ensuring children under 21 with disabilities get comprehensive health servicesOCR - Office of Civil Rights (investigates disability discrimination insuring equal access to education)Soticlestat Appeal VideoTraveling with a Medically Complex Child ResourcesLetter of Intent (documenting your child’s likes etc for future caregivers)

Episode 30: Kara’s Life with Bennett (age 9)In this episode you’ll meet Kara and her nine-year-old son, Bennett. Bennett is a middle child and his mom shares about the unique relationships he has with each of his brothers. Kara reflects on how she navigated getting in-home nursing support - spoiler, it was with the help of other disability parents, not professionals (a typical experience in our community) - and how the support is critical to helping her maintain employment as a teacher as well as her sanity when caregiving gets medically challenging. Bennett often requires respiratory interventions and Kara shares how she manages his needs and all the equipment that’s involved with keeping him safe and healthy. If you have a respiratory kiddo with CDKL5, you’ll likely identify with this conversation!Thanks for joining us, Kara!SPECIAL ANNOUNCEMENT! - Biscuit Bandit Dog Treat Fundraiser for the Pod! Purchase by Dec 15! Makes great gifts!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Parents Helping Parents

Episode 29: Anna’s Life with Addy (age 4)In this episode we welcome another sweetheart CDKL5 mama, Anna, on the podcast to talk about life with her four-year-old daughter, Addy. We talk about the loving relationship she has with her older sister, Charlotte, and how Addy’s personality shines through in every space where she goes. We also talk candidly about how hard decision-making and acceptance are for us as caregivers, and how finding peer support to tap into the resources you need is key. Anna has a beautiful perspective about this CDKL5 life and it was so fun hearing her wisdom.“I’m eternally grateful for Addy and I also wish that things were easier for her. So, two things can be true at one time. We can grieve and we can rejoice at the same time, always.”Thanks for joining us, Anna!SPECIAL ANNOUNCEMENT! - Biscuit Bandit Dog Treat Fundraiser for the Pod! Purchase by Dec 15, 2025. Makes great gifts!!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Ganaxolone (aka Ztalmy)VNS Surgery as a Seizure TreatmentCDKL5 Parents Support Group on FacebookCDKL5 Life Expectancy - CDD ExplainedCDKL5 Life Expectancy Blog PostLouLou FoundationCDKL5 Centers of Excellence

Episode 28: Understanding CDKL5 Deficiency DisorderThere are people all over the world whose children are living with CDKL5 deficiency disorder. We prepared the free eBook "Understanding CDKL5 Deficiency Disorder" for our fellow CDKL5 moms and dads. It is intended to give an introduction to CDD in an easy-to-read format. In this episode, we discuss what's in the eBook - the major symptoms of CDD, some frequently asked questions that come up in our support group, and reflect on some of what we have learned as parent-caregivers to children with this complex diagnosis.You don’t have to face this diagnosis on your own. You can find members of our CDKL5 community all over social media, in medical publications, online, and sometimes even in your own backyard. If you need help connecting, please let us know. Chances are we can help.SPECIAL ANNOUNCEMENT! - Biscuit Bandit Dog Treat Fundraiser for the Pod! Purchase by Dec 15. Makes a great gift!!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:"Understanding CDKL5 Deficiency Disorder" Free eBookICCRN - International CDKL5 Clinical Research NetworkParticipate in the International CDKL5 Disorder Database!Listen to Rachel’s wisdom in episode 3Epileptic Spasms - Epilepsy FoundationDEE-P Connections WebinarsSplinter SkillsListen to episode 25 Let’s Talk About AAC

Episode 27: CDKL5 Science Chat with Ben GoultPut your thinking caps on because we have a scientist in the studio with us! In this episode we welcome Ben Goult, a biochemist and professor of mechanistic cell biology at the University of Liverpool. His lab works on a protein called talin, and he has discovered a connection between talin and CDKL5. While this is a science-heavy episode, Ben does a nice job of explaining how his work has the potential to influence the CDKL5 research landscape. Exciting stuff!Ben Goult LinkedInSHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Publication: Cyclin-dependent kinase-like 5 (CDKL5) binds to talin and is anchored at the postsynaptic density via direct interaction with PDZ domainsYouTube Video: Cyclin-dependent kinase-like 5 (CDKL5) binds to talin and is anchored at the postsynaptic density via direct interaction with PDZ domainsAddgene - a nonprofit repository that archives and distributes DNA-based materials like plasmids and viral vectors, making it easier for scientists worldwide to share and access reagents, thus accelerating discovery and improving research reproducibility.Proteomics Definition

Episode 26: Keshia’s Life with Emani (age 16)Our guest, Keshia, shares about the beautifully complex life she has with her daughter, Emani. We discuss the challenges of rural life and limited support systems as well as the mindset Keshia has cultivated that has empowered her to navigate the ups and downs. We also talk about the importance of protecting your mental health as a caregiver as well as for the siblings as well. You’ll find Keshia’s words inspiring as she shares how faith, family, and friends all uplift her to believe in hope for a better tomorrow. Thanks for joining us, Keshia!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Article: The Ultimate Guide to JournalingVideo: Hear from the Siblings: Sharing Their Journey with Medical ComplexityNAPA Centers

Episode 25: Let’s Talk About AACWhile most people living with CDKL5 Deficiency Disorder are non-speaking, this does not mean they cannot communicate! AAC or Augmentative and Alternative Communication refers to any method or tool that helps someone communicate when they cannot use their spoken words effectively. In this episode we talk about our own children’s journeys with AAC and some of what we have learned along the way. AAC helps people of all ages and it's never too early to start, so don't wait! Talk to your speech-language pathologist about your child's communication needs today!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected]:Ava's AAC - LAMP SystemWho are emergent readers and writers? Webinar: Eye Gaze & CVI -- Efficient Access to Robust CommunicationWebinar: Empowering Paraeducators to Use Students' AAC SystemsCenter for Literacy and Disability StudiesShared Reader ResourcesAlternative PencilPRC Language SystemsDifferences between AAC and AT

Episode 24: Teresa’s Life with Louise (age 26)Each person who lives with CDKL5 deficiency disorder is unique, and Louise is the epitome of living a unique life with CDKL5. Her CDKL5 mutation is in her introns, and her main seizures are the absence type, which initially were frequently missed. She has many skills that we don’t typically see in our community - she can talk, she can walk, jump, and dance! Hear from Louise’s mom, Teresa, about the extraordinary life Louise leads as an adult in her community and the support in place that allows her to have independence. Teresa also shares honestly about the impact raising Louise has had on their family, her health, and tips for how she coped.Thanks for joining us, Teresa!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Absence SeizuresTonic Clonic SeizuresWhat are Introns and Exons?CDKL5 Parent Support Group on FacebookWhat it’s like to be a “glass child” articleIFCR Transition to Adulthood GuideThe CARE Binder - a resource for families who are Caring for Adults with a Rare EpilepsyRESOURCES:VIP Sibling Kit for rare epilepsy siblingsCleveland Clinic - Always Coping, Rarely Seen: Explaining Glass Child Syndrome

Episode 23: We’re Back! Summer recap and an opportunity to share your knowledge with us and ASGCT!We’re back after our summer hiatus! Hear us chat about the successes and challenges summer break brought, and get the scoop on a project we are working on with ASGCT - the American Society of Gene & Cell Therapy. Get involved by taking our “quiz” on gene therapy and CDKL5. Your responses will help shape future education we are preparing in collaboration with ASGCT.Complete the “quiz” by September 30 to be eligible to win a $25 Amazon gift certificate!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Take Our Quiz!ASGCT Website

Episode 22: What has been your biggest lesson learned?It’s June and that means it’s CDKL5 awareness month! We are doing things a little differently on the podcast this month. We are diving into some emotional topics and sharing insights directly from our peer caregivers.Our children who live with CDKL5 deficiency disorder are so loved, but life with CDKL5 is hard, so join us as we talk about it.We asked: What has been your biggest lesson learned?SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected]

Episode 21: How has this diagnosis changed you?It’s June and that means it’s CDKL5 awareness month! We are doing things a little differently on the podcast this month. We are diving into some emotional topics and sharing insights directly from our peer caregivers.Our children who live with CDKL5 deficiency disorder are so loved, but life with CDKL5 is hard, so join us as we talk about it.We asked: How has this diagnosis changed you?SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected]

Episode 20: What does your family need more of and/or less of in this CDKL5 life?It’s June and that means it’s CDKL5 awareness month! We are doing things a little differently on the podcast this month. We are diving into some emotional topics and sharing insights directly from our peer caregivers.Our children who live with CDKL5 deficiency disorder are so loved, but life with CDKL5 is hard, so join us as we talk about it.We asked: What does your family need more of and/or less of in this CDKL5 life?SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Brené Brown on EmpathyAdvocacy Abby’s Grant Finding Website

Episode 19: What does support look like to you?It’s June and that means it’s CDKL5 awareness month! We are doing things a little differently on the podcast this month. We are diving into some emotional topics and sharing insights directly from our peer caregivers.Our children who live with CDKL5 deficiency disorder are so loved, but life with CDKL5 is hard, so join us as we talk about it.We asked: What does support look like to you?SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected]

Episode 18: What impact does life with CDKL5 have on your family?It’s June and that means it’s CDKL5 awareness month! We are doing things a little differently on the podcast this month. We are diving into some emotional topics and sharing insights directly from our peer caregivers.Our children who live with CDKL5 deficiency disorder are so loved, but life with CDKL5 is hard, so join us as we talk about it.First up, we asked: What impact does life with CDKL5 have on your family?SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected]

Episode 17: Ed’s Life With Haley (age 18)In this latest episode we introduce you to our children’s grandparents and welcome a well-known CDKL5 grandpa, Ed Fennell. Ed shares some awesome stories about his granddaughter, Haley, particularly about how she communicates and takes the world in. She is a spitfire! Ed has always been her champion and is passionate about finding a way to bring out her voice so that she is more understood in the world.Ed also shares with us about the AI technology he is trying to advance, exploring how the skills of engineering students, the knowledge of caregivers, and this ever-expanding technology may be able to develop a system to enhance communication for kids like ours. It’s fascinating stuff and if you have questions for Ed, we can get you in touch!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Voice4PIMD WebsiteHaley and Poppy WebsiteEd's speech at the CDKL5 Patient-Focused Drug Development meeting (2:41:20)

Episode 16: Let’s Talk About AcceptanceAcceptance doesn’t turn on like a light switch. Instead, it's a series of realizations and adjustments we make as we transform our expectations and embrace our reality. It’s a process, and as parent caregivers to our children living with CDKL5 deficiency disorder, we all go through it. In this latest episode, you’ll hear us share personal stories as well as helpful tips and coping strategies that have helped us on our journeys to acceptance.Embracing community by getting to know others who are also facing this CDKL5 life can be a powerful tool in your journey to acceptance. We’re glad you’re listening!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Martin Newey Supporting CDKL5 Website (with exons)Wellness WheelWelcome to Holland PoemRESOURCES:How do I find a good therapist?Article: Levels of Acceptance in Special Needs ParentingArticle: Feeling Guilty as a Special Needs Parent

On this episode we welcome Renee who lives with her young family in Colorado. She tells us about the special sibling relationship her children have and we learn all about therapy intensives (and discover Owen’s newfound love of horses!). We also hear Renee’s beautifully peaceful perspective on the rare disease journey and how she finds gratitude in Owen’s story - just as it is written. This gentle and sweet mama is easy to listen to, so enjoy.“My love for this boy… and just rising every day to meet him where he’s at and love him for exactly who he is and cherish every day I get with him… how lucky are we that he’s ours?” -ReneeThanks for joining us, Renee!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Book: What is Epilepsy?NAPA Center - DenverNeuroplasticityAAC - Augmentative and Alternative CommunicationUDN - Undiagnosed Disease NetworkMosaicismCorpus CallosotomyHippotherapy

Carol-Anne is one of the OG CDKL5 moms! Her daughter, Amber, is nearly 20 years old and Carol-Anne has been on the scene getting involved for CDKL5 even before her daughter was officially diagnosed. She’s co-founder of CDKL5 UK, a professional social worker, and is passionate about supporting families, raising awareness, and challenging assumptions.In this latest episode, we talk with Carol-Anne about the early days of diagnosis, what transitioning to adulthood has been like and the challenges of navigating social systems in the UK. We also talk about the importance of learning to understand our children’s unique methods of communicating, and how that clarity matters for family quality of life.Thanks for joining us, Carol-Anne!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:CDKL5 UKCDKL5 Parent Support Group on FacebookChronic Sorrow - Sociologist Simon Olshansky first coined the phrase “chronic sorrow” in 1962. Chronic sorrow is often experienced by parents and caregivers who have a child with a disability. He felt that the grieving did not ever reach a closing point and the intensity could increase during certain stages of that child’s life.Billy Adaptive ShoesColin Farrell Opens Up About SonBristol UK CDKL5 Center of Excellence

Episode 13: Let's Talk About Adaptive ClothingLiving the CDKL5 life means all kinds of adaptations and clothing is not an exception! Adaptive clothing can come in quite handy and, fortunately, the options available seem to increase each year! In this latest episode, we share where we like to shop for our kids for things like shoes, bodysuits, and even swimwear. We also talk a bit about how our personal styles have changed since becoming full-time caregivers. We’d love to hear your recommendations too so please share!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Adaptive Clothing (definition)Target AdaptiveBilly’s ShoesAva’s Billy’s BootPrincepard ShoesPLAE ShoesSmart Knit Sensory SocksEtsy Pocket Blanket for WheelchairVideo: How to Change Someone Without Removing PantsKohl’s AdaptiveSPIO SuitWheelchair CoatsAva’s SwimsuitGregory’s SwimsuitReusable Swim DiaperCakes - Bra Alternative

In this latest episode, we reflect on how it’s been going for us at the CDKL5 in Color podcast and what people can expect in our upcoming (first!) newsletter! We are just so touched and proud of the response we’ve had from our CDKL5 community. Be sure to sign up for our newsletter so you get all the info right to your inbox! Sign up here: https://www.cdkl5incolor.com/newsletter-sign-upSHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Read our first newsletter!! https://preview.mailerlite.io/preview/1263075/emails/142798938795149116Please follow us on social media and let us know what you want to hear on the show!!

Episode 11: Heather’s Life with Ezra (age 3)If you are in the early years of parenthood, you can probably relate to Heather. Mom of two littles, one with CDKL5, plus she and her husband are working full-time - life is busy! Ezra lives life in a big way and distinguishing what is CDKL5-related behavior vs typical toddler behavior is complicated for her parents. In this episode you’ll explore Ezra’s challenges with CDKL5 (spoiler, right now it’s not seizures!), her sibling relationship, and the impact special needs parenting has on career, marriage, lifestyle, and more.“Your child sets the tone. Never give up on your child!” - HeatherSHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE: CDKL5 Sibling Book - message Toasting Tanner Seizure Action Plan Cortical Visual Impairment (CVI) Montessori Bed ARK chewies

No one likes being in the hospital, but when your child has a diagnosis of CDKL5 Deficiency Disorder, hospitalizations are a part of life. Some of the most challenging hospitalizations are for respiratory illness. Recently, Marissa was in the hospital for two weeks with her son for the flu. In this episode, hear all about their stay as well as about how we prepare for hospital stays, tips and tricks, a candid discussion about the challenges, and how sometimes life looks different upon discharge.SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:PICUCommon Respiratory IllnessesPediatric Intubation VideoSecretions and Suctioning InformationRESOURCES:A Tiger Mom’s Guide for Sudden HospitalizationHow to Pack a Caregiver Ready Bag

Adaptability is the name of the game when you are a parent caregiver to someone living with CDKL5 Deficiency Disorder, especially when you are juggling a professional career.In this episode we welcome Stephanie, geoscientist, educator, and medical mama to her daughter Isobel. We talk about how caregiving duties and medical needs not only impact employment, but in Stephanie’s case, changed the trajectory of her career.If you are a working caregiver, you’ll relate to Stephanie’s story for sure. And if you’re not a caregiver, perhaps your eyes will be opened to the challenges your colleagues may be facing behind closed doors.According to the Family Caregiver Alliance: 69% of working caregivers report having to rearrange their work schedule, decrease their hours, or take unpaid leave in order to meet their caregiving responsibilities. 39% of caregivers leave their job to have more time to care for a loved one.Thanks for joining us, Steph!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE: Sleep Safe Bed Stephanie’s Research “Creating an Online Community of Support: Mothers of Children with Disabilities Working in the Academy” Stephanie’s Research “Caregiving, Disability, and Gender in Academia in the Time of COVID-19”

Seizure Action Plan Awareness Week is Feb 10-17, 2025 and in this latest episode we talk about seizure action planning basics and share our experiences developing these specialized plans for our loved ones with CDKL5 Deficiency Disorder. We also share some personal tales about others’ reactions to our kids' seizures and reflect on the realities we manage as our “normal” living with a severe refractory epilepsy. SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE: www.SeizureActionsPlans.org Epilepsy Foundation School Nurse Training rescue medication = a drug that can stop a seizure quickly in an emergency hypoxic = having too little oxygen PO / NPO = “by mouth” / “nothing by mouth” Sign up for our newsletter!

How familiar are you with rare disease advocacy? In episode 7 we talk about how advocacy impacts drug development as well as how it impacts the social systems our children are a part of. We share ways to get involved with organizations that champion rare diseases and encourage you to get out there and share your challenges and needs with those who can make a difference. We also share about a Rare Disease Day giveaway we are running all month long!SHOW NOTESCheck out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Email us to be on the show! [email protected] IN THE EPISODE:Rare Disease Day Official SiteNORD Rare Action Networks By StateCDKL5 Home Video StudyTelethon Kids Team - CDKL5 DatabaseZtalmy (Ganaxolone) approved for CDDCDKL5 Centers of Excellence in the USCDKL5 in Color Shop (Candles, Shirts, Mugs, Bags, etc!)Sign Up For Our Newsletter!Leave Us a Voice Message!RESOURCES:FDA-NIH Rare Disease DayRare Disease Legislative Advocates (RDLA) Advocacy Tip SheetsRare Disease Week on Capitol HillJoin NORD’s Policy and Advocacy Taskforce!NORD EDU - Free Advocacy CoursesGIVEAWAY ENTRY CRITERIA:Help us spread awareness of CDKL5 in Color and you’ll have a chance to win a beautiful “CDKL5 - Illuminate Hope” candle in the design of your choice! Either CDKL5 green & epilepsy purple design OR CDKL5 rare zebra print design.A perfect way to light it up for CDKL5 on Rare Disease Day or during June awareness month!How to enter:Follow us on either Facebook or InstagramLike the giveaway post (Feb 1)Tag a friend who should listen to our podcast (each tag = 1 entry)BONUS: 3 entries for signing up for our newsletter!BONUS: 3 entries for writing a review on Apple Podcasts or our Facebook page!Entries must be in by February 27, 2025. We will pick one Facebook winner and one Instagram winner on Rare Disease Day February 28, 2025. Thanks for participating and helping us increase our reach!*Shipping only to US addresses

In this latest podcast episode, we delve into the challenges of managing constipation in CDKL5 Deficiency Disorder. We share our personal experiences, discuss why constipation is a common issue for individuals with this rare disease, and suggest practical tips and strategies that you can consider with your child’s doctor.Adequate Hydration!Getting our kids moving or standing, tummy massage.Dietary changes, over the counter remedies, and prescription meds.Shout out to the caregivers who chimed in to share their management tips on our Facebook post! Heather, Stephanie, Kelly, Kevin, Jessie, April, Jol, Olivia, Kara, Justice, Renee, Melissa, Emily, Joellen, Courtney, Michelle, Karolina, Danielle, Hope, Kristin, Rebecca, Stephanie, Kori, Ruth, Jacqueline, & Megan  SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.comEmail us to be on the show! [email protected] IN THE EPISODE:The PoopinatorCDKL5 Introductory Care GuideRecommendations for the Management of CDDRESOURCES:Get Motility Problems in Children

Deshaun is a sweetheart CDKL5 mama whose positive attitude will make you smile. She is a champion of accessing mental health support and talks about how prioritizing her own mental health has made a profound impact on her life. Hope you enjoy learning a bit about her life and her son, Braylon, who is a music lover like his mama!SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website www.CDKL5inColor.comEmail us to be on the show! [email protected] IN THE EPISODE: Advocacy Abby - help with grants and resources for families Braylon Seizure Alert Dog Fundraiser

Before our kids were diagnosed with CDKL5 Deficiency Disorder, they were diagnosed with epilepsy. In this latest podcast episode, we share our initial experiences receiving an epilepsy diagnosis for our infants. We also share our thoughts on building a collaborative provider relationship that works.SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website www.CDKL5inColor.comEmail us to be on the show! [email protected] IN THE EPISODE: Early Intervention (EI) Epilepsy Monitoring Unit (EMU) EEG ADLs = Activities of Daily LivingRESOURCES: Medical Advocacy Resource Guide

In Episode 3, you’ll hear from CDKL5 mama, Rachel, who is raising her amazing nine-year-old daughter, Mimi, with her family in California. There are so many quotables in this episode! Rachel is an insightful speaker and her stories about life with Mimi are captivating.Listen in as Rachel reflects on the unexpected path they’ve walked with CDKL5, the challenges they face balancing Mimi’s physical abilities with her significant functional disabilities, the safety measures taken to protect her, and the unique difficulties this brings to their home and sibling dynamics.Thanks for joining us, Rachel!SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website www.CDKL5inColor.comEmail us to be on the show! [email protected] the show? Please leave us a review!MENTIONED IN THE EPISODE: California Regional Center CDKL5 Parent Support Group on Facebook Huckleberry Tandem Hiking

It’s a beautiful thing to have a day filled with peaceful joy, but oftentimes when your child has a diagnosis of CDKL5 Deficiency Disorder, a holiday can feel anything but peaceful or joyful. Unfortunately, sometimes what should be a special day can feel emotionally and/or physically draining.So, what can we do to survive holidays with CDKL5?In this latest podcast episode, we dive into how we manage these special days in our families. Spoiler - it’s giving ourselves and our children a lot of grace and leaning into what works for our unique life instead of holding on to traditions that don’t serve us.SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website www.CDKL5inColor.comEmail us to be on the show! [email protected] IN THE EPISODE: Purple Pumpkin Project CVI - Cortical Visual Impairment Adaptive Bike Fundraiser Meow Wolf Little Room Activity Arch

Why start a CDKL5 podcast?CDKL5 in Color is a passion project that stems from us wanting to do more to amplify CDKL5 and to connect with other diagnosed families who might be looking for support out in the world of podcasts. Like other rare diseases, you’re not going to just bump into someone in the store who knows CDKL5 or find people by chance. You really need to seek out members of this CDKL5 community for that connection. We hope our podcast provides an avenue to do that.SHOW NOTESFollow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!Check out our website ⁠www.CDKL5inColor.com⁠Email us to be on the show! [email protected] IN THE EPISODE: Poem “Patchwork Heart” by John Roedel CDKL5 Patient Focused Drug Development meeting with the FDA (2019) Katie Beckett WaiverSTORYTELLING RESOURCES: Global Genes “Using Storytelling to Raise Awareness for Your Rare Disease”  Rare Action “How to Write a Patient Story” NIH “Communicating About Rare Diseases" Rare Disease Film Festival “The 8 Stages of Rare Disease Advocacy”

The podcast you’re listening to is CDKL5 in Color. You’ll hear co-hosts Marissa & Amanda share lessons learned along the way as parent caregivers to children living with CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. Together they’ll explore life with CDKL5 in a variety of topic-based candid chats. They’ll also invite you to get to know members of the CDKL5 community through interview episodes that are sure to leave you feeling informed, inspired and connected. The goal? To weave a tapestry of vibrant community stories for you to explore.