Skip to main content

Posts

Sept 2025 CDKL5 Knowledge Quiz Results

Quiz Results Summary Firstly, we send our thanks to the CDKL5 caregivers who took the time to respond to our quiz. Although the sample is small, we have identified some insightful take-aways. The vast majority (97%) of CDD caregiver respondents to our quiz said they were interested in accessing gene therapy as a treatment should it become available. This is unsurprising as we know that the burden of a CDKL5 deficiency disorder diagnosis is high and has implications on quality of life for the entire family unit. We learned that most respondents had a decent understanding of basic drug development in the United States, including what they can do to advance the cause (enrolling in clinical research, participating in registries). However, it should be recognized that the majority did not accurately anticipate the length of time or financial investment it takes to bring a treatment like gene therapy to patients. This is significant because, if expectations are high, but the realities of the...
Post a Comment
Read more
Recent posts

The Holidays Are Coming

The Holidays Are Coming! Are you ready for it? Let's revisit our conversation from episode two of the CDKL5 in Color podcast - Let's Talk Holidays . 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 episode two 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 bedt...
Post a Comment
Read more

Purple Pumpkin Project for Epilepsy Awareness

    The Purple Pumpkin Project began in 2012 by an epilepsy dad who wanted to raise awareness and encourage a conversation about epilepsy. Have you ever thought to paint a pumpkin purple? It's a fun and easy way to bring awareness to a disease that impacts 1 in 26 people in the United States. Here are some ways to get involved: Grab some paints and cover your pumpkin in your favorite color purple! Have your family join in by painting their hands and stamping the pumpkin in purple handprints. Get a white pumpkin and use purple nail polish for a unique effect . Use our coloring page and purple crayons. However you decorate, sharing your pumpkin on your front stoop or on social media is a great way to start a conversation about epilepsy and how it impacts your family. If you post on social media, tag us @CDKL5inColor so we can share too! Until next time 💚 Like this blog? Tell your friends! Be sure to check out our podcast and follow us on social media! @CDKL5inColor on Instagr...
Post a Comment
Read more

CDKL5 Life Expectancy

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...
Post a Comment
Read more

Adaptive Clothing and the CDKL5 Life

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...
Post a Comment
Read more

What Do You Bring to the Hospital?

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...
Post a Comment
Read more

Rare Disease Week on Capitol Hill 2025

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...
Post a Comment
Read more