CDKL5 in Color

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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comRESOURCES: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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.com

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! CDKL5inColor@gmail.com

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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.com

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! CDKL5inColor@gmail.com

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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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: So, What Are You Wearing?Living 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED 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! CDKL5inColor@gmail.comMENTIONED IN THE EPISODE: CDKL5 Sibling Book - message Toasting Tanner Seizure Action Plan Cortical Visual Impairment (CVI) Montessori Bed ARK chewies