When you receive a diagnosis of MEF2C haploinsufficiency syndrome, you likely underwent genetic testing. There are a few different types of genetic tests that could have led to a diagnosis: a chromosomal microarray, epilepsy gene panel, or whole exome or whole genome sequencing. For each type of testing, there could be different “flavors” of results that could come up.

Finding it hard to understand and explain the role of MEF2C in the human cell and what MCHS means? We've created an explanation just for you, with just the right amount of science-speak for the everyday parent and caregiver.

Introducing our new blog, CHIRP. We started CHIRP to provide parents, caregivers, scientists, and medical and therapeutic providers with additional information helpful to our collective journey towards effective treatments for kids with MCHS.