When Melissa Moore’s daughter, Ashley, was diagnosed with CDKL5 in the summer of 2009 at the age of seven, their lives didn’t really change much. The genetic counselor gave her a piece of paper with CDKL5 written on it and told her to Google it along with Rett Syndrome, a better-known disorder. Melissa’s searching into CDKL5 brought no results and she put the paper in a drawer. “Ashley was seven and I had already accepted this life so having a diagnosis didn’t really change anything, especially since there wasn’t any information about it,” Melissa remembers. About a year later, she found her ..read more

Meet Skylar! Mom Lauren shares about her sweet daughter! It has been almost a year since we walked into the hospital office to receive the devastating results of our daughter’s genetic testing, CDKL5 Deficiency Disorder. I remember the day vividly. After tons of labs, multiple spinal taps, a brain MRI, several EEG’s, failed meds, etc., our family was hopeful that the genetic results would give us an answer as to why our infant daughter, Skylar, was having hard to control seizures at such a young age. The result was not at all what we were hoping for, nor were we prepared for it. At just 2 week ..read more

MEET TORYN! MOM, MYLIE, SHARES ABOUT HER SWEET DAUGHTER. Our journey with CDKL5 Deficiency Disorder began April 7th, a day forever burned into our memory. At 8 months of age, Toryn’s seizures began. They came on fast and furious, starting from “What was that?” To her having them hourly. It was one of the longest most terrifying days, and yet that was only the beginning of our journey. Toryn’s first hospital stay lasted 3 days, in the middle of a global pandemic. After starting her first anti-seizure medication, she completely stopped having seizures! That seizure freedom only lasted 5 days bef ..read more

Urgent Call for Patient, Clinician & Researcher Inputs to Curing the Epilepsies  Twenty years ago (March 2000), the White House initiated a conference called Curing Epilepsy: Focus on the Future to develop research goals (benchmarks) to cure epilepsy. Since then, epilepsy thought leaders have come together every seven years (in 2007 & 2013) to measure our progress against the goals and set new priorities toward curing this disease that impacts 1 in 26 people. Epilepsy leaders will again gather in January 2021 to: Set new benchmarks AND  Explore big and transformative i ..read more

Meet Olivia! She will soon turn One! Mom, Nicole, shares about her sweet daughter. On the morning of November 26, 2019, when Olivia was just 8 weeks old, I was resting on my bed watching her sleep. She had been restless the prior night so I wanted to lay with her to try and ensure she got the proper rest. My husband Billy was already at work and our son Will had just left on an adventure with his nanny. About 15 minutes after Olivia fell asleep she started to shake rapidly from head to toe, all her muscles tensed up, her face turned beat red, her breathing became extremely short… I thought she ..read more

Meet Rian! Rian is 2 years old this month! Mom, Danielle, shares about her sweet daughter. What are some things you do at home to help your child? Rian loves music so we often sing to her. When she was an infant we played jazz music for her all the time and we would get lots of smiles! For some reason, she loves Laurie Berkner and the Wheels on the Bus song. It’s like instant calming for her when she needs to reset herself. We also have a swing outside for her when it’s nice out which she loves, but with winters in the northeast, one of our therapists showed us how to create a little hammock s ..read more

It is so exciting to see new CDKL5 research publications announced. But finding access to scientific journal articles, understanding the studies they describe and interpreting the results can be challenging. Sorting out the studies’ goals, size, and type is enough to make one’s head spin. We should understand how bias was minimized, identify potential conflicts of interest, and understand how the conclusions stack up to similar studies. And also, if it is statistically or clinically meaningful information. Who has time for all of that? Research ought to be made contextually available to the p ..read more

How do researchers find information about those living with CDKL5 Deficiency Disorder (CDD)? In the early stages of treatment discovery, researchers often utilize natural history studies, patient advocacy organizations, and large research databases from around the world. Research on Humans is conducted only with permission from an IRB approval. What is an IRB? The Institutional Review Board (IRB) is an administrative body established to protect the rights and welfare of human research subjects recruited to participate in research activities conducted under the auspices (support and approval) o ..read more

Kourtni Reed, Aunt, OTD, OTR/L, ATP In this video, Kourtni discusses twenty-four-hour postural management – one of the most important health interventions for those with severe & complex physical disabilities. Twenty-four-hour postural care includes symmetrical positioning over the entire 24-hour period while sitting, standing, and lying. We will be offering a live Q&A session with Kourtni in the near future – details will be available soon! Visit our CDKL5 Resource Library to access to additional CDD resources. The post Therapeutic Night-Time Positioning appeared first on CDKL5 - IF ..read more

There is a lot of confusion around personal protective equipment (PPE) so we gathered some resources for you. The CDC recommends wearing cloth face coverings in public settings where other social distancing measures are difficult to maintain (e.g., grocery stores and pharmacies), especially in areas of significant community-based transmission. According to the CDC, cloth face coverings fashioned from household items or made at home from common materials at low cost can be used as an additional, voluntary public health measure. Cloth face coverings should not be placed on young children under a ..read more