CDKL5 in Color

    Advocacy doesn't come naturally for many of us, and yet it is an important skill to develop if your child lives with a rare disease like CDKL5 Deficiency Disorder. What is Rare Disease Advocacy? The goal of rare disease advocacy is to improve the lives of those living with rare diseases, irrespective of the unique disease state. Luckily, rare disease advocacy is well coordinated and strong in the United States. The leading advocacy organizations' efforts are bolstered by the support of smaller patient advocacy groups who sign on to letters of importance or take action when recruited. It's an easy way for smaller groups to engage in advocacy. Here are two leading rare advocacy organizations to know: National Organization for Rare Disorders (NORD) - You can join NORD's Rare Action Network and be connected with advocates in your home state, as well as be informed about important advocacy calls to action. Everylife Foundation - Their Rare Disease Legislative Advocate...

When you're new to this diagnosis, you're hoping that some of what's on the symptom list won't apply to you. And maybe you get lucky, but I would say that GI is probably not one of the ones where you get lucky. If your child has a diagnosis of CDKL5 Deficiency Disorder, chances are they will struggle with constipation at some point. Why? Well, there are a variety of reasons for it. Factors that Can Contribute to Constipation Low Muscle Tone (Hypotonia) - Low tone can affect many areas of the body including the muscles involved in bowel movements. Feeding and Swallowing Difficulties - Difficulties in this area can impact overall digestion and bowel regularity. Gastrointestinal Issues - Reflux and vomiting can accompany constipation and further complicate things. Medications - Some medications our children take can cause constipation. Developmental Delays - These can impact one's ability to develop regular bowel habits and recognize the need to go to the bathroom....

We always celebrate the little things. Deshaun’s positive attitude will make you smile. She’s a busy first grade teacher raising her 15-year-old son, Braylon, who lives with CDKL5 Deficiency Disorder. In episode 5 of the CDKL5 in Color podcast, we do a deep dive with Deshaun about making life fun with Braylon, the importance of inclusion, and how caregiver mental health matters. Music Is Powerful Braylon is a fan of all types of music, from the symphony to pop, and Deshaun was able to take him to see Harry Styles in concert! Despite all the challenges of making such a trip (limited changing spaces, accessibility, and all the things to pack), they had a positive experience and, thankfully, found support from the stadium staff. When asked how she knows if he enjoys himself when he cannot tell her himself, she reflects on how CDKL5 caregivers inherently know their kids and pick up on the cues they give to indicate they are content. Learning Who Therapy Is For Mental health was always jus...

First Comes Epilepsy Before our kids were diagnosed with CDKL5 Deficiency Disorder, they were diagnosed with epilepsy. In episode 4 of the CDKL5 in Color podcast we share our initial experiences receiving an epilepsy diagnosis for our infants. 1 in 26 people are affected by epilepsy in the US, but despite that statistic, neither of us knew much about the disease. We didn’t know that infants could have seizures or that epilepsy could be refractory and difficult to control. We also didn’t know that people could live with daily seizure activity. Marissa’s Story: At just four weeks old, Gregory started having seizures. After sharing videos of the strange movements with his pediatrician, we received a referral to a pediatric neurologist. During a planned one-hour EEG (where Gregory did not have any episodes) we were told everything was ok, but later on a longer EEG confirmed the seizures. Gregory was diagnosed with epilepsy at two months old. Amanda’s Story: Although Ava had been meeting mi...

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...