When a cerebral palsy diagnosis isn’t diagnosis enough: How one mom’s tenacity got her daughter exome testing—and answers Kelsey Linden | March 26, 2025 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. Kelsey Linden | March 7, 2025 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 Kelsey Linden | February 19, 2025 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 Kelsey Linden | February 12, 2025 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 Kelsey Linden | February 5, 2025 Until genetic testing saved his life
Rare Disease Month spotlight: The top five psychological benefits of a genetic diagnosis Kelsey Linden | January 31, 2025 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. GeneDx Admin | October 24, 2024 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.