I read a touching story at the BBC news center about a young woman with Alpert’s Syndrome. This rare syndrome is present in only 1 in 170,000 births. It results in facial disfigurement and mitten-like hands.
The physical defects of Apert’s syndrome were first described by Fredrick Apert in 1942. These characteristics include: A tower-shaped skull due to craniosynostosis (premature fusion of the sutures of the skull)—an underdeveloped mid-face leading to recessed cheekbones and prominent eyes, malocclusion (Faulty contact between the upper and lower teeth when the jaw is closed) and limb abnormalities such as webbing of the middle digits of the hands and feet.
Bones of the fingers and toes are fused in Alpert’s infants giving a “mitten-like” appearance of their hands. Children with Apert’s syndrome can have unusual speech characteristics such as hyponasal resonance due to an under-developed mid face, small nose and long soft palate and, sometimes, cleft palate.
What struck me about the girl’s story was how she described how it felt to be teased growing up, and how the worst part of the teasing was that no one stuck up for her. I’ve seen kids do this kind of thing before, and I can imagine how painful it is when no one has the courage to go to bat for you. I’ve often wondered how “doing nothing” to defend a little one might be just as bad as actively harrassing them. I’d encourage parents to teach their children not to tease others, and beyond that, to come to the defense of those being teased. I bet this will do a lot of psychological good for the victims.
The good news in this case is that the girl has had some very successful reconstructive surgery and has a fairly normal life. The teen is even thinking about boyfriends, and preparing for college. Many thanks to the surgeons who did such a wonderful job.
And coincidentally, the Happy Hospitalist brought this story to my attention: a 4 month old kitten was in a horrible accident that resulted in her losing the front half of her face. Veterinarians were able to save her life, though she remains quite deformed. I am told that the kitty is not in any pain, and is enjoying her life as a therapy pet. She brings hope to those recovering in the hospital from surgeries and serious illnesses. I suppose they see her as a loving animal who is cheerfully going about her kitty business, without giving much thought to her previous injury.
These stories of hope are made possible by the surgeons and veterinarians who devote their lives to saving face. In so doing, they provide the rest of us with valuable lessons, and new friends of exemplary courage.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.