CDKL5 in Color

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 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:

• 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 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:

Rare Disease Day Official Site

NORD Rare Action Networks By State

CDKL5 Home Video Study

Telethon Kids Team - CDKL5 Database

Ztalmy (Ganaxolone) approved for CDD

CDKL5 Centers of Excellence in the US

CDKL5 in Color Shop (Candles, Shirts, Mugs, Bags, etc!)

Sign Up For Our Newsletter!

Leave Us a Voice Message!

RESOURCES:

FDA-NIH Rare Disease Day

Rare Disease Legislative Advocates (RDLA) Advocacy Tip Sheets

Rare Disease Week on Capitol Hill

Join NORD’s Policy and Advocacy Taskforce!

NORD EDU - Free Advocacy Courses

GIVEAWAY 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 Instagram

Like 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 NOTES

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

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

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

MENTIONED IN THE EPISODE:

The Poopinator

CDKL5 Introductory Care Guide

Recommendations for the Management of CDD

RESOURCES:

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 NOTES

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

Check out our website www.CDKL5inColor.com

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

MENTIONED 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 NOTES

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

Check out our website www.CDKL5inColor.com

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

MENTIONED IN THE EPISODE:

• Early Intervention (EI)

• Epilepsy Monitoring Unit (EMU)

• EEG

• ADLs = Activities of Daily Living

RESOURCES:

• 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 NOTES

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

Check out our website www.CDKL5inColor.com

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

Like 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 NOTES

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

Check out our website www.CDKL5inColor.com

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

MENTIONED 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 NOTES

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

Check out our website ⁠www.CDKL5inColor.com⁠

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

MENTIONED IN THE EPISODE:

• Poem “Patchwork Heart” by John Roedel
• CDKL5 Patient Focused Drug Development meeting with the FDA (2019)
• Katie Beckett Waiver

STORYTELLING 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.

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)