CDKL5 in Color

In Episode three 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. Please listen to the episode to hear it first-hand. I’ll take a shot at highlighting some of the discussion here. The Early Days and Diagnosis From early on, Rachel noticed that something was different about her new baby, Mimi. She was floppy, lethargic, didn't want to feed, and appeared jaundiced. At just three weeks old, odd movements led to a trip to the ER. Initially dismissed as overanxious parents, an EEG soon revealed that Mimi was experiencing seizures, leading to her being put on her first anti-seizure medication. Like most of us, Rachel wasn’t educated about epilepsy and thought that the new medication would resolve Mimi’s issues. However, when Mimi had another seizure despite being on medication, Rache...

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 our latest podcast episode (episode 2 - Let’s Talk About Holidays), 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. Do you struggle with any of these holiday stressors? - Changes in routine. Often our kids (and our households) thrive on routines. A holiday by nature is special, and it can be a whirlwind that is difficult to handle when you have med times and bedtimes, and are missing the support of a school day. Some advice: try to keep as close to your normal r...

Our first episode is live! Wahoo! There is definitely a bit of a learning curve to this podcasting thing, but now that we have our first recording under our belt I know it will just get better and better from here! In this episode we talk about why we started this podcast and why rare disease storytelling matters. I hope you’ll tune in and let us know what you think! 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. Why is storytelling important for advocacy? The heart of why we advocate is because we need things to change. But how do people help you when they d...

Hello! So glad you’re here! I’m Marissa, co-host of the CDKL5 in Color podcast (with my CDKL5 partner-in-crime, Amanda) and content creator for all things CDKL5 in Color. Chances are you found us because someone you love has a diagnosis of CDKL5 deficiency disorder. But maybe you are facing a different rare epilepsy that has symptoms in common with CDKL5. Or perhaps you work in rare disease in some way. However you found us, welcome! CDKL5 in Color is truly a passion project that has been in the works for a while now, and we are so excited to finally see it come to life! On the podcast you’ll hear Amanda and me share lessons learned along the way as parent caregivers to children living with CDKL5 deficiency disorder in a variety of topic-based candid chats. You’ll also get to know members of our CDKL5 community through interview episodes that are sure to leave you feeling informed, inspired, and connected. We are channeling over 25 years of CDKL5 caregiving and advocacy into powerful s...