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When Gavin was born, doctors didn’t expect him to survive, or at best he wouldn’t be able to walk or use his hands. When Gavin was two years old, a genetic panel diagnosed him with three rare genetic conditions. Today, Gavin is not walking — but running. He isn’t only using his hands, but his feet too! Thanks to a large team of specialists and an intricate, coordinated spine surgery, he’s defying all odds and playing soccer with his friends. “Growing rod surgery has been life-changing, not just for Gavin but also for us as parents,” says his dad, Greg. “I feel like I have a front row seat to a medical miracle.”

For most of her life, Hannah, who has a rare condition called respiratory papillomatosis, lived with tumors on her vocal cords and airways. Though benign, these growths prevented her from speaking clearly. Today those tumors are long gone, thanks to treatment from the Center for Pediatric Airway Disorders at CHOP. “We saw improvement right away,” says Glamiris, Hannah’s mom. “When I saw the images after her Avastin treatment, I gasped.” As of the second infusion, Hannah’s vocal cords and most of her trachea are clear, and so is her speech. Now when Hannah whispers, it’s by choice – not necessity.

For the first few months of Amelia’s life, every week seemed to bring a new diagnosis. It wasn’t until she was close to her second birthday that her family finally received confirmation of their suspicions. The results from genetic testing proved Amelia had a rare genetic disorder called Kabuki syndrome, characterized by distinct facial features, mild-to-moderate intellectual disability, growth deficiency and/or skeletal differences. This diagnosis tied all of Amelia’s symptoms together. “When we met with (geneticist) Dr. Elaine Zackai at CHOP, I didn’t mention Kabuki because I didn’t want to plant the seed,” says Jessica, Amelia’s mom. “But she knew right away from examining Amelia and knowing her medical history.”