CDKL5 in Color

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...