New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more
An emergency transfer put their newborn in a hospital where a genetic study was in progress. It may have changed everything.
Sarah knew something was wrong. The nosebleeds. The fatigue. The headaches. Her care team said she was fine. But her gut said otherwise.
Genetic testing can feel like a big topic to bring up with your child’s doctor. Here are some tips to help you feel more confident and prepared for the conversation.
Ashley refused to accept a broad cerebral palsy diagnosis and pushed for a precise genetic diagnosis for her daughter—preventing permanent nerve damage and vision loss.
Her advice to other CP parents: ask for an exome test upfront and always trust your mom gut.
Two brave parents said yes to genome-based newborn screening—and found answers right away when their newborn started having seizures.
One heroic family wouldn’t take no for an answer. Going full mama bear—and grandmama bear—finally led to answers.
Until genetic testing saved his life
