Nevaeh may be 8, but she has the stature of a 8th-grader. That’s because Nevaeh has a rare genetic disorder called Beckwith Wiedemann syndrome. Most children are born with a hormone that regulates muscle growth—to keep it gradual—but in children with Beckwith Wiedemann, that hormone is missing and their muscles grow at an accelerated rate.
One place where this accelerated growth often shows up is in the tongue. In Nevaeh’s case, her tongue was so big, she couldn’t eat properly or breathe (at night, her breathing stopped 60 times an hour). Connecticut Children’s surgeons reduced her tongue size five weeks after birth, but a few months later, it became enlarged again.
Among the many specialists who have treated Nevaeh at Connecticut Children’s are those from Pulmonary Medicine; Speech Therapy; Neurosurgery; the Center for Cancer & Blood Disorders (the syndrome increases the risk of cancer); Ear, Nose and Throat; Physical Therapy; and Craniofacial. She’s also been in the Emergency Department more than 10 times since birth.
Because of all that expert care, Nevaeh is doing really well today. She’s eating and breathing without a problem, and will enter third grade in September. She dances and enjoys gymnastics. And soon, her classmates will be catching up to her: Typically, the accelerated growth of patients with Beckwith Wiedemann slows down by the time they reach the age of 8 to 10.
“That prospect is a little bittersweet,” says her mother, Kristin. “You have those relationships with the doctors, and when they tell you she doesn’t need to come back for six months, it’s good but it’s also a little sad.”