Kate is Great-CHD2 Awareness Day 2026

Meghan Schmidt / CHD2 Awareness Day 2026

Support the Coalition to Cure CHD2. This organization connects CHD2 families, engages researchers in the scientific community, and funds research and studies. Kate is one of 559 CHD2 patients registered with CCC. When diagnosed in 2022 we were told there were only 19 cases worldwide. Thanks to parent advocacy and organizations like CCC we are beginning to understand this ultra-rare disease better. Please consider supporting to celebrate February 2nd, CHD2 Awareness Day!

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About Kate is Great-CHD2 Awareness Day 2026

CHD2 is a gene located on chromosome 15 that provides instructions for making a protein called chromodomain-DNA-helicase-binding protein 2. This protein regulates gene activity through a process called chromatin remodeling and may play an important role in the brain, although its exact function is not well understood. CHD2-related neurodevelopmental disorders are a group of seizure disorders that typically present in the first five years of life and may be characterized by refractory or drug-resistant epilepsy, developmental delays, and photosensitivity epilepsy caused by flashing lights. Other symptoms may include intellectual disability, autism spectrum disorders, neuropsychiatric conditions, low muscle tone, and challenging behaviors. The disorder is diagnosed by molecular genetic testing and treated with anti-seizure medication and therapies for autism, intellectual disabilities, and speech delays. The prevalence of CHD2 is unknown but it is thought to be underdiagnosed. 
Kate was diagnosed with CHD2 April 2022, after being diagnosed with epilepsy in November 2020 and autism in August 2021. She was diagnosed with ADHD in February 2025. Kate is a happy 8 year old girl who has many loves including toys, birds, vehicles, music, water slides, karaoke, the beach, and her family. Many things that we grow up learning easily can be extra challenging for Kate, but she continues to surprise us daily with her communication, independence, and love for life.