CDKL5 in Color

Episode 41: Michal’s Life with Natalia (age 5)

Episode 41: Michal’s Life with Natalia (age 5) There are families navigating a CDKL5 Deficiency Disorder diagnosis all over the world. What makes the diagnosis a little easier? Finding support within your own country if you’re lucky enough to have it. In this latest episode, we welcome CDKL5 Dad, Michal, who is doing big things with his fellow CDKL5 families in Poland. He’s also Chair of the Leadership Board of the CDKL5 Alliance. His reason for getting involved is his beautiful daughter, Natalia, who lives with CDD. Michal shares how Natalia’s impacted by CDD, the close relationship she has with her adoring big brother, Jan, and how Natalia is charting her own course, working hard, and starting her journey in kindergarten. He’s a proud Dad, and we’re sure you’ll enjoy our chat. Thanks for joining us, Michal! SHOW NOTES Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com [http://www.cdkl5incolor.com] Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube! Email us to be on the show! CDKL5inColor@gmail.com [CDKL5inColor@gmail.com] Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma [https://www.ucb-usa.com/Patients]! LINKS: Follow Natalia’s Story on Instagram [https://www.instagram.com/cdkl5_natalia/] Follow CDKL5 Poland on Instagram [https://www.instagram.com/cdkl5_poland/] CDKL5 Alliance [https://cdkl5alliance.org/] 5 Ways Therapy Dogs Can Help Kids [https://www.therapydogs.com/ways-therapy-dogs-can-help-kids/] Guide: Supporting Siblings Through a Serious Medical Condition: What to Say Infographic [https://courageousparentsnetwork.org/guides/supporting-siblings-through-a-serious-medical-condition-what-to-say-infographic/] 8 Tips to Communicate Effectively and Compassionately to Help Siblings Cope [https://courageousparentsnetwork.org/blog/8-tips-to-communicate-effectively-and-compassionately-to-help-siblings-cope/] Supporting Siblings of Children with Medical Conditions [https://www.luriechildrens.org/en/blog/supporting-siblings-of-children-with-medical-conditions/]

Episode 40: Let's Talk About Moments of Joy

Episode 40: Let's Talk About Moments of Joy Life 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 NOTES Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com [http://www.cdkl5incolor.com] Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube! Email us to be on the show! CDKL5inColor@gmail.com [CDKL5inColor@gmail.com] Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma [https://www.ucb-usa.com/Patients]! LINKS:  Article: Can little actions bring big joy? Researchers find 'micro-acts' can boost well-being [https://www.npr.org/sections/health-shots/2023/11/14/1212908276/can-little-actions-bring-big-joy-researchers-say-micro-acts-can-boost-well-being] The BIG JOY Project: Try your first micro-act of JOY now! [https://ggia.berkeley.edu/bigjoy] Article: The Power of Positive: Reframing a Negative Outlook [https://www.brownhealth.org/be-well/power-positive-reframing-negative-outlook] 988 Crisis Line [https://988lifeline.org/]

Episode 39: Let’s Just Chat!

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 NOTES Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com [http://www.cdkl5incolor.com] Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube! Email us to be on the show! CDKL5inColor@gmail.com [CDKL5inColor@gmail.com] Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma [https://www.ucb-usa.com/Patients]! LINKS: Colorado Consumer-Directed Attendant Support Services (CDASS) [https://hcpf.colorado.gov/consumer-directed-attendant-support-services] Council of Parent Attorneys and Advocates [https://www.copaa.org/] IDEA - Individuals with Disabilities Education Act [https://sites.ed.gov/idea/] The Arc: Education Policy and Advocacy [https://thearc.org/policy-advocacy/education-policy-advocacy/] Find Your Representatives in Congress [https://www.congress.gov/members/find-your-member] Waivers: HCBS Home & Community-Based Services 1915(c) [https://www.medicaid.gov/medicaid/home-community-based-services/home-community-based-services-authorities/home-community-based-services-1915c] Kids’ Waivers - state by state list [https://www.kidswaivers.org/] Cleveland Clinic: Peristalsis [https://my.clevelandclinic.org/health/body/22892-peristalsis] Cleveland Clinic: Bisacodyl [https://my.clevelandclinic.org/health/drugs/20717-bisacodyl-tablets-and-capsules] DEE-P Webinar: Navigating GI Interventions [https://deepconnections.net/2025/12/17/navigating-gi-interventions/] Cleveland Clinic: Intussusception [https://my.clevelandclinic.org/health/diseases/10793-intussusception]

Episode 38: Aditi’s Life with Ria (age 6)

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 NOTES Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com [http://www.cdkl5incolor.com] Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube! Email us to be on the show! CDKL5inColor@gmail.com [CDKL5inColor@gmail.com] Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma [https://www.ucb-usa.com/Patients]! LINKS: ABA Therapy - Applied Behavior Analysis [https://my.clevelandclinic.org/health/treatments/25197-applied-behavior-analysis] Article: Always Coping, Rarely Seen: Explaining Glass Child Syndrome [https://health.clevelandclinic.org/glass-child] Episode 3: Rachel’s Life with Mimi [https://open.spotify.com/episode/1F9GT01rOn1GEczj1Qhoj2?si=Xmi8H3-xSqy_Aa0MELIhTg] Article: Taking Care of YOU: Self-Care for Family Caregivers [https://www.caregiver.org/resource/taking-care-you-self-care-family-caregivers/]

Episode 37: Let’s Talk About Gene Therapy

Episode 37: Let’s Talk About Gene Therapy Gene 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 NOTES Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com [http://www.cdkl5incolor.com] Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube! Email us to be on the show! CDKL5inColor@gmail.com [CDKL5inColor@gmail.com] Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma [https://www.ucb-usa.com/Patients]!LINKS: Ultragenyx Gene Therapy Ultragenyx Website [https://www.ultragenyx.com/our-research/our-gene-therapy-platform/] November 2021 Webinar - Gene Therapy: A Conversation With Dr Benke & Ultragenyx [https://www.youtube.com/live/xkOxzwX9O-k?si=a93WbxWaTWbfc8Ag] August 2022 Webinar - CDD Research Updates from Ultragenyx [https://www.youtube.com/live/POXGaoy09x4?si=RHg9HMUo9_xftU8p] November 2022 - Ultragenyx Community Update Letter [https://www.cdkl5.com/wp-content/uploads/2023/11/CDD-Community-Update_Q4-2022-MRCC-UX055-00002.pdf] February 2023 Webinar - Ultragenyx Preclinical UXO55 Update [https://youtu.be/K3Y-jvVxDWc?si=fytq8A7EyA8zTlp4] November 2023 - Ultragenyx Community Update Letter [https://www.cdkl5.com/wp-content/uploads/2023/11/CDD-Community-Update-Letter_Q4-2023-MRCM-UX055-00019_APPROVED.pdf] April 2024 - Ultragenyx Community Update Letter [https://www.cdkl5.com/wp-content/uploads/2024/04/UX055-Community-Update-April-2024-MRCM-UX055-00021_FINAL-MRC-APPROVED.pdf] September 2025 Facebook Post - PAG Community Letter re: Ultragenyx [https://www.facebook.com/share/p/1J1aFtf8mX/] Elaaj Bio Gene Therapy Elaaj Bio Website [https://www.elaajbio.com/] February 2026 Webinar: Update on ELJ-101: A gene therapy for CDD [https://youtu.be/r11s9tUHEcA?si=kD-G459aiv-Wk7HB] CDKL5 Forum 2025 Summary (includes links to prior year summaries) [https://www.draccon.com/dracaena-report/2025forum] ⁠Patient-Focused Drug Development (PFDD) meeting with the FDA "Voice of the Patient Report"⁠ [https://www.cdkl5.com/wp-content/uploads/2023/05/CDD-VoP-REPORT.pdf] CDKL5 Gene Therapy (Jainu Jogani) www.CDKL5GeneTherapy.com [http://www.cdkl5genetherapy.com] October 2025 Webinar: Gene Therapy for CDKL5: The History, Progress & Next Steps [https://cdkl5genetherapy.com/past-events] Resources for Caregivers American Society for Gene & Cell Therapy Patient Education [https://patienteducation.asgct.org/] Enroll in the International CDKL5 Disorder Database! [https://rettregister.thekids.org.au/CDKL5/Register] Episode 16: Acceptance [https://open.spotify.com/episode/1xG5MwBZhhVwKOJYIo9HSR?si=FwRxKLnwTyuGbhW7ShCptw] DEE-P Connections Webinars [https://deepconnections.net/webinars/] Book: Caring for Children Who Have Severe Neurological Impairment: A Life with Grace by Julie M. Hauer, M.D. [https://www.press.jhu.edu/books/title/10790/caring-children-who-have-severe-neurological-impairment]