Patient stories

When a cerebral palsy diagnosis isn’t diagnosis enough: How one mom’s tenacity got her daughter exome testing—and answers

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.

One courageous mom found the genetic cause behind her daughter’s cerebral palsy–and then found the silver lining.

Her advice to other CP parents: ask for an exome test upfront and always trust your mom gut.

A rare disease diagnosis from the start: One family’s experience with genome-based newborn screening

Two brave parents said yes to genome-based newborn screening—and found answers right away when their newborn started having seizures.

Answers for Bodhi: After two years of searching, an exome test identified his rare condition

One heroic family wouldn’t take no for an answer. Going full mama bear—and grandmama bear—finally led to answers.

Like many children with a rare condition, Simon’s health problems were initially thought to be flukes

Until genetic testing saved his life

Rare Disease Month spotlight: The top five psychological benefits of a genetic diagnosis

Every day we hear from families about what a difference a genetic diagnosis made in their lives. Here’s what they have to say.

One mom’s seven-year journey to find answers for her son’s illness. 

Ben’s illness started with seizures when he was just six months old.

His mother, Ashley, never stopped searching for answers—and finally found them with a genome test.

For Carlotta’s family, early intervention meant everything.