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

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

LINKS: 

Article: Can little actions bring big joy? Researchers find 'micro-acts' can boost well-being

The BIG JOY Project: Try your first micro-act of JOY now!

Article: The Power of Positive: Reframing a Negative Outlook

988 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

LINKS:

Colorado Consumer-Directed Attendant Support Services (CDASS)

Council of Parent Attorneys and Advocates

IDEA - Individuals with Disabilities Education Act

The Arc: Education Policy and Advocacy

Find Your Representatives in Congress

Waivers: HCBS Home & Community-Based Services 1915(c)

Kids’ Waivers - state by state list

Cleveland Clinic: Peristalsis

Cleveland Clinic: Bisacodyl

DEE-P Webinar: Navigating GI Interventions

Cleveland 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

LINKS:

ABA Therapy - Applied Behavior Analysis

Article: Always Coping, Rarely Seen: Explaining Glass Child Syndrome

Episode 3: Rachel’s Life with Mimi

Article: Taking Care of YOU: Self-Care for Family Caregivers

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

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!LINKS:

Ultragenyx Gene Therapy

Ultragenyx Website

November 2021 Webinar - Gene Therapy: A Conversation With Dr Benke & Ultragenyx

August 2022 Webinar - CDD Research Updates from Ultragenyx

November 2022 - Ultragenyx Community Update Letter

February 2023 Webinar - Ultragenyx Preclinical UXO55 Update

November 2023 - Ultragenyx Community Update Letter

April 2024 - Ultragenyx Community Update Letter

September 2025 Facebook Post - PAG Community Letter re: Ultragenyx

Elaaj Bio Gene Therapy

Elaaj Bio Website

February 2026 Webinar: Update on ELJ-101: A gene therapy for CDD

CDKL5 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.com

October 2025 Webinar: Gene Therapy for CDKL5: The History, Progress & Next Steps

Resources for Caregivers

American Society for Gene & Cell Therapy Patient Education

Enroll in the International CDKL5 Disorder Database!

Episode 16: Acceptance

DEE-P Connections Webinars

Book: 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 Kids

Either 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

LINKS:

Scrubzz Rinse Free Soap & Shampoo Bath Sponges

Wet Ones Body Wipes

ShowerBuddy BathLyft

Trakz - Bath Straddle System for Tub

Rifton WAVE Chair and Transfer System for Tub

Rifton MEDIUM HTS Hygiene and Toileting System

Firefly Splashy Chair

Glo Pals Water Activated Light Up Bath Toys

Therapy Wraps

Article: Abdominal Massage for Constipation

eBook: Charlie Foundation - Keto Friendly Personal Care Products

Episode 35: AI Chat with Cure5 Co-Founder Andreas Borg

How 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

MENTIONED IN THE EPISODE:

Cure5 Foundation Website

Chat With Research Papers Tool

YouTube: Cure5 Knowledge Engine - Caregiver Mode

EveryStone Project

SienaForLife on Instagram

LouLou 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

MENTIONED IN THE EPISODE:

Calm Amongst the Chaos - Kim’s Blog

CAC Family Support (Arizona)

Voice of the Patient Report: CDKL5

Article: AAC Systems for Communication

CDKL5 Mama Pilates on Instagram

Ryan House Respite in Arizona

Keifer Swim Collar

Gregory’s Swim Collar with Harness

RESOURCES:

Book: Comprehensive Literacy for All

Article: Essential Tips for Caregiver Lifting

Episode 33: Let’s Talk About Tube Feeding

Adequate 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

MENTIONED IN THE EPISODE:

Cleveland Clinic Article: Tube Feeding (Enteral Nutrition)

Facebook Group Blenderized RN

Real Food Blends

Free eBook: Blended Diet Recipes (includes Marissa’s blogs)

GeneReviews: CDKL5

Kohl’s Adaptive Onesies

Book: Homemade Blended Formula Handbook

Natural Tube Feeding Course

Feeding Tube Awareness Week

RESOURCES:

Article: SickKids-led study shows success with a blenderized diet for children with G-tubes

Publication: Pureed by gastrostomy tube diet improves gagging and retching in children with fundoplication

Publication: Blenderized Enteral Nutrition Diet Study

Publication: Efficacy and Tolerance of Blended Diets in Children Receiving Gastrostomy Feeds

Publication: 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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

Thank you to our 2026 Airwave Ally Sponsor - UCB Pharma!

MENTIONED IN THE EPISODE:

Barometric Pressure and Seizure Increases (article)

EPSY Seizure Tracking App

Article: How does CVI affect skill development beyond vision?

Georgia GAPP Program

Resource Guide: Educational Advocacy

Episode 31: Let’s Ring Out 2025

It’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 NOTES

Check out our website and sign up for our quarterly newsletter at www.CDKL5inColor.com

Follow us @CDKL5inColor on Instagram, Facebook, LinkedIn, Blue Sky, & YouTube!

Email us to be on the show! [email protected]

MENTIONED 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 Disorder

2025 CDKL5 in Color WRAPPED

EPSDT (Early and Periodic Screening, Diagnostic, and Treatment) is a crucial Medicaid law ensuring children under 21 with disabilities get comprehensive health services

OCR - Office of Civil Rights (investigates disability discrimination insuring equal access to education)

Soticlestat Appeal Video

Traveling with a Medically Complex Child Resources

Letter of Intent (documenting your child’s likes etc for future caregivers)