Sarah

Sarah was born appearing healthy, but at her 6-week check, doctors found her fontanelle couldn't be felt. Initial CT scans were misinterpreted, but further testing revealed she had a small brain causing microcephaly. After MRI and genetic testing, Sarah received her PCH diagnosis from a CASK gene deletion at age one.

Sarah's mother found the Facebook support group invaluable, as medical professionals had limited knowledge about the condition and published research painted bleak pictures. She emphasizes that having a CASK daughter proved "anything other than depressing." Sarah's happiness, beauty, and wonderful laugh make it "impossible to feel sorry for yourself for any length of time."

The hardest aspects have involved seizures and sleep disturbance — Sarah experienced seizures nearly daily for nine months starting at 13 months old.