A new study shared what life is like for people with KCNQ2-DEE and their families. After having qualitative interviews with parents and caregivers, researchers found that the most concerning symptoms were not seizures, but other aspects of behavior and development. 

What It’s About

In this study, caregivers talked about the daily challenges faced by individuals with KCNQ2-DEE. With help from KCNQ2 Cure Alliance (thank you to those who participated!), they interviewed 53 different family members. They learned that the hardest symptoms to deal with were not seizures. Instead, they found that things like trouble talking, learning delays, and needing help with personal care (like brushing teeth, bathing, and dressing) affected quality of life the most. This information is valuable for future clinical trials, enabling them to focus on treating more than just seizures.

Why It Matters

Knowing what families face every day helps doctors and researchers create treatments that address the symptoms that matter most. The more information collected about people with KCNQ2-DEE, the better the support that can be provided in the future. 

The Quick Term

Qualitative: A type of research that uses interviews or open-ended questions to understand people’s experiences in their own words. 

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