MEPAN Syndrome is a rare genetic disease caused by mutations in the MECR gene. Patients develop motor issues in early childhood that are similar to cerebral palsy, and they eventually suffer vision loss. The condition worsens over time and there are no proven treatments available.
We established the MEPAN Foundation after our sons Carson and Chase were diagnosed with MEPAN in 2018, and we are working to jumpstart research to discover treatments for people with MEPAN and related disorders. We are also focused on raising awareness for rare diseases, genetic testing, and using precision medicine to change the way patients are treated for rare genetic conditions.
"Small steps may seem unimpressive, but don’t be deceived. They are the means by which perspectives are subtly altered, mountains are gradually scaled, and lives are drastically changed."
- Richelle E. Goodrich
Our journey to find a diagnosis for Carson and Chase was story featured in a video from Illumina in 2019.