Patient of the Month: Ashley


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Caring for Matthew: Managing a Very Rare Disease

April 03, 2025 – Matthew was diagnosed with Phelan-McDermid Syndrome (PMS), a rare genetic disorder that affects development, speech, and cognitive ability, and requires extensive medical care and round-the-clock support. Despite his challenges, Matthew radiates love and joy, and his family is advocating for increased awareness of PMS while seeking potential treatments for the condition.

Luigi's Journey Toward a Better Tomorrow

March 31, 2025 – Luigi's parents faced fear and uncertainty when their son was diagnosed with Lennox-Gastaut syndrome and severe seizures at six months old. Thanks to the compassionate care and innovative treatments at Nicklaus Children’s Hospital, Luigi has made remarkable progress, and his family has opened a PPEC facility to support other families navigating similar challenges.

Nicklaus Children's Hospital to offer new rapid genetic test

May 03, 2018 – Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.