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| CDKL5 Voices | December 2024 |
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A Heartfelt Thank You for an Amazing Giving Tuesday and End of Year Campaign!
We are overjoyed to announce, thanks to your unwavering support, we surpassed our goal of raising $30,000 for the matching donation challenge! Your generosity during Giving Tuesday and our year-end campaign has been nothing short of inspiring, and the donations are still coming in! The way this community continues to come together never ceases to amaze us.
We are truly grateful for each and every one of you in this amazing community, and we look forward to the positive change we will continue to create together with your support and heart. Thank you for making this milestone possible!
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Thrive in '25!
Our theme for 2025 is Thrive in '25! Throughout the coming year, we will share a variety of opportunities and activities designed to help CDKL5 families not just survive, but truly thrive. We are kicking off the year with two exciting events you will not want to miss!
New Year's Party
Let us kick off the new year together as a CDKL5 family! Join us for a virtual gathering where we can celebrate and connect. Bring your favorite cocktail or mocktail, a snack or recipe to share, and feel free to share any tips or activities you and your family use to unwind and navigate the challenges of living with CDKL5. This event is all about having fun and relaxing together--silly hats are encouraged, but not required. Mark your calendars for 8pm ET, January 8th, and register now with the button below!
2025 From Surviving to Thriving Workshop!
One of the highlights of the IFCR's family conference last June was Brad Thompson's session focusing on self-care and mental well-being. Due to the overwhelmingly positive response, we have partnered with the Child Neurology Foundation and Brad to offer a full-length version of his workshop, exclusively for CDKL5 families. This 100% virtual training will take place over six weeks, with some work at your own pace activities and three virtual sessions for discussion.
- Limited to 30 participants, so do not delay in signing up!
We are excited to offer these meaningful opportunities and look forward to continuing this journey of thriving together in 2025!
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What Does the Future Hold for Communication Technology?
Many of you know Ed Fennel, or "Poppy" to sweet Haley, but you may not know about the work he is doing in collaboration with the IFCR! Ed has always believed in our kids and their abilities to learn and understand. He is determined to find better ways to help our amazing loved ones communicate.
In August of 2024, Ed was asked to make a presentation to the Rensselaer Center of Open Source at Rensselaer Polytechnic Institute. The topic was the Insension Project, a first attempt at applying AI Tools to Empower Communication Skills for Individuals with Profound Intellectual and Multiple Disabilities (PIMD). After the talk, he was approached by three students who volunteered to recruit engineers to move the project forward.
In early December 2024 they reported their objective progress in a poster presentation at an RPI Scientific Expo: "The Voice Project aims to reverse biases in academia and show that communication is possible without words. We intend to create a home-use, unaided alternative assistive communication device that can be used by non-verbal children."
They reported they had cataloged a current list of relevant sensory processing technologies to collect and correlate biometrics. In the next semester, they will begin the process of applying AI to identify patterns in the biometric data.
Their long-term goal is to establish the Voice Project as permanent in the School of Engineering.
Stay tuned to learn more next month, when Ed "Poppy" will share a more detailed blog about his work and ways we can help! Many thanks to Ed for being such a dedicated and fierce advocate!
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New Research Opportunities!
Expanding CDKL5 Deficiency Disorder Study (ExCeeD):
A research study for patients with disease-associated variants in the CDKL5 gene who have independent motor and communication skills and/or seizure freedom. The ExCeeD Study is being conducted at Boston Children's Hospital, but participants do not have to be a patient at Boston Children's Hospital to qualify.
They are currently recruiting individuals 18 months of age or older who meet the following criteria:
- They have a CDKL5 gene variant thought to be the cause of their neurologic presentation by their clinician (the gene variant may be classified as pathogenic, likely pathogenic or variant of uncertain significance).
- Participants must either have independent functional abilities (such as walking, communicating, and picking up small objects) or be seizure-free.
DEEp Ocean Study:
A double-blind, randomized, placebo controlled clinical study to investigate the efficacy, safety and tolerability of LP352 in the treatment of seizures in children and adults with Developmental Epileptic Encephalopathy (DEE).
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