SCN8A Rare Mom – The Inch Stone Project and DEE-P Connections – Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker
ONCE UPON A GENE – EPISODE 190
SCN8A Rare Mom – The Inch Stone Project and DEE-P Connections – Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker
Gabi Conecker is an incredible advocate who has worked in the rare disease space for over 10 years. She’s accomplished a lot, all while caring for her for her son Elliot with SCN8A and a severe variant of epilepsy.
EPISODE HIGHLIGHTS
Where does your rare disease journey begin?
My son Elliot was diagnosed with SCN8A in 2014, and there were only about ten known cases in the world. We founded Wishes for Elliot as a way of doing something when nothing was being done. It has evolved into the International SCN8A Alliance and we are focused on research, advancing the field, providing resources and supporting families.
What is DEE and DEE-P?
Developmental and epileptic encephalopathies (DEEs), is a hard to control form of epilepsy that cannot be treated with the drugs currently on the market, accompanied by developmental delays and/or regression. Developmental Epileptic Encephalopathy-Project (DEE-P) was formed to break through the isolation families face while researching their children’s symptoms and challenges, to facilitate connections and share critical resources with families facing similar challenges.
What is the Inchstone Project?
The Inchstone Project is a multidisciplinary group of consumers, stakeholders, researchers and clinicians collaborating to accelerate outcome measures development. We came together to address an unmet need and to identify and develop tools to measure patient response to therapies. Our goal is to release a survey soon around head control so we can begin measuring and capturing data. We will continue to test and adapt the tools in preparation for clinical trials.
How can parents and other patient advocacy groups get involved?
Visit our website and get in touch with me. For the Inchstone Project, we want to get as many families involved as possible so that when we’re developing tools, your voice is heard and you can ensure your child is included.
LINKS & RESOURCES MENTIONED
2023 CTNNB1 Natural History Study, Family Meeting, and Research Conference
https://www.curectnnb1.org/research/research-conference/
https://www.wishesforelliott.com/
https://scn8aalliance.org/scn8a-unraveled/
https://deepconnections.net/resource-center-main/
https://deepconnections.net/inchstone-project/
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