CDKL5 in Color

Would it surprise you to know that " CDKL5 life expectancy" is the most commonly searched term related to this disorder according to Google Analytics? Imagine getting a CDKL5 deficiency disorder (CDD) diagnosis for your child and immediately wondering if it means your child won't live. Many families do. What is the life expectancy for someone with CDD? We recognize the desire to understand the trajectory of this disease; however, the reality is that the life expectancy for individuals with CDD is currently unknown.  This is primarily because the disorder was only identified in the early 2000s, and long-term data on a large population of affected individuals is not yet available. It is important to note that CDKL5 deficiency disorder is not considered a terminal illness in childhood. Many individuals with CDD live into adulthood, with cases of people living into their 30s, 40s, and 50s. As more individuals are diagnosed and live longer, and with ongoing research and parti...

Adaptive clothing is a relatively new term within the past decade or so, but it seems like it has just exploded in recent years! Now you can find lots of adaptive items in mainstream stores. In episode 13 of the CDKL5 in Color podcast we talk about how we dress our kids (both adaptive and traditional clothing) for everyday wear, shoes, swimwear, and more! We also chat about how our fashion has changed now that caregiving is part of life. For Our Kids Shoes: We love Billy's, and Target even sells a less expensive version online! Also loved is Princepard shows as well as PLAE. SmartKnit seamless socks are also a hit! Clothing: Macy's, Costco, Walmart, & Carter's are all hits for good deals and great sales. Kohl's, Target, & JCPenny all have an adaptive line! Incredible to see the availability in these mainstream stores! Swimwear: Reusable swim diapers are popular and can be found easily on Amazon. Amanda's daughter wears a buoyant wetsuit for swimming, whi...

In episode 10 of the CDKL5 in Color podcast we talk all things hospitalization, including what makes up our hospital "GO" bag. Being in the hospital is generally miserable, but having what you need (plus some comfort items) can make it a better experience. If you plan ahead and make a list, packing a go-bag can happen quickly. Necessities for the Hospital These are the things you cannot go without or that would be hard to get if needed. Things like: Medications (especially clinical trial or specialty pharmacy meds) Toiletries Change of clothes Phone charger Money These are important to put on a list so you don't forget them. Sometimes heading to the hospital happens quickly, and the situation is likely stressful, so having a list prepared ahead of time ensures you don't have to think too much and can focus on more important things. Comfort Items are Important Too Comfort items make all the difference! It really is the little things that can brighten your day and help...

Rare Disease Week on Capitol Hill is happening February 24-26, 2025 in Washington D.C. Hosted by the Rare Disease Legislative Advocates (RDLA), a program of EveryLife Foundation for Rare Diseases , this multi-day event empowers participants to learn key policies affecting the rare disease community and share their stories with Members of Congress. Can't make it to D.C.? You can participate virtually! Here's the info: Feb 24 - Rare Reels Documentaries (watch on your own time!) Feb 25 - Legislative Conference Live Stream (9:00-5:00) Feb 26 - Rare Disease Congressional Congress Briefing (9:00-10:00) Link to participate: https://everylifefoundation.org/rare-advocates/rare-disease-week/rare-disease-week-attendee-corner-virtual-rare-disease-week Ready to take action? View the RDLA Action Alert Center for ways to make your voice heard: https://everylifefoundation.quorum.us/actioncenter/ We are grateful to the EveryLife Foundation for their rare disease advocacy leadership! You can...

It's National Caregivers Day. This day exists to bring attention to the significant service caregivers, particularly unpaid family caregivers, provide to our society as well as the challenges and needs of this important group. In episode 9 of the CDKL5 in Color podcast we talk with Stephanie who does her best to balance her career as a geoscientist and educator with her caregiving duties. Adaptability is the name of the game when you're a parent caregiver to someone living with CDKL5 Deficiency Disorder, and adapt she has. Stephanie's career is on a different trajectory than she originally anticipated, and in some ways she is finding new meaning in what work is valuable to her. It can be extremely difficult for many caregivers to make it work, and some caregivers leave their career completely. Did you know... According to the Family Caregiver Alliance: 69% of working caregivers have to rearrange their work schedule, decrease their hours, or take unpaid leave in order to mee...

Does your loved one with epilepsy have a Seizure Action Plan in place? It's an important tool to ensure the safe and timely response to seizures and seizure emergencies! On episode 8 of the CDKL5 in Color podcast we are talking seizure action planning and amplifying an awareness effort led by the Seizure Action Plan Coalition called " Seizure Action Plan Awareness Week ." Celebrated this year from February 10-17, Seizure Action Plan Awareness Week aims to educate patients, healthcare providers, and the general public about the importance of having a Seizure Action Plan. What is Included in a Seizure Action Plan? A Seizure Action Plan can be as individualized as necessary, but it generally includes: Basic identifying information (name, DOB) Emergency contact(s) A description of seizures (type, length, what happens) When to administer rescue medication and/or call 911 Any after care or comfort care needed What seizure medications are taken regularly Other helpful medical in...

    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...