CDKL5 in Color

Episode 28: Understanding CDKL5 Deficiency Disorder

There 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 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:

"Understanding CDKL5 Deficiency Disorder" Free eBook

ICCRN - International CDKL5 Clinical Research Network

Participate in the International CDKL5 Disorder Database!

Listen to Rachel’s wisdom in episode 3

Epileptic Spasms - Epilepsy Foundation

DEE-P Connections Webinars

Splinter Skills

Listen to episode 25 Let’s Talk About AAC

Episode 27: CDKL5 Science Chat with Ben Goult

Put 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 LinkedIn

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:

Publication: Cyclin-dependent kinase-like 5 (CDKL5) binds to talin and is anchored at the postsynaptic density via direct interaction with PDZ domains

YouTube Video: Cyclin-dependent kinase-like 5 (CDKL5) binds to talin and is anchored at the postsynaptic density via direct interaction with PDZ domains

Addgene - 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 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:

Article: The Ultimate Guide to Journaling

Video: Hear from the Siblings: Sharing Their Journey with Medical Complexity

NAPA Centers

Episode 25: Let’s Talk About AAC

While 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 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]

RESOURCES:

Ava's AAC - LAMP System

Who are emergent readers and writers? 

Webinar: Eye Gaze & CVI -- Efficient Access to Robust Communication

Webinar: Empowering Paraeducators to Use Students' AAC Systems

Center for Literacy and Disability Studies

Shared Reader Resources

Alternative Pencil

PRC Language Systems

Differences 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 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:

Absence Seizures

Tonic Clonic Seizures

What are Introns and Exons?

CDKL5 Parent Support Group on Facebook

What it’s like to be a “glass child” article

IFCR Transition to Adulthood Guide

The CARE Binder - a resource for families who are Caring for Adults with a Rare Epilepsy

RESOURCES:

VIP Sibling Kit for rare epilepsy siblings

Cleveland 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 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:

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 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]

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 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]

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 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:

• Brené Brown on Empathy

• Advocacy 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 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]