In 2022, Patrick was diagnosed with an ultrarare genetic variant – CACNA1C – which can cause both neurological and cardiac symptoms. Today, Patrick is making incredible progress – and his heart is monitored, too, to prevent any future cardiac episodes. All of this is thanks to one little mouth swab that changed the trajectory of Patrick’s life – and a helping paw from a furry friend.
Read Story
Video about Seeing a Genetic Counselor for Pediatric Counseling
Newborn screening is a group of screening tests performed shortly after a baby is born, typically while they are still in the hospital. It includes an evaluation of hearing, heart function and specific conditions detectable via blood. The goal of this type of testing is to look for critical conditions that, while not immediately noticeable, can impact the long-term health of a newborn. This allows for early detection, diagnosis and intervention to improve a child’s quality of life as well as reduce risk for disability or even death.