Her ultrasound looked perfect. But Baby Brielle Garrison was born without eyes. How common is this?
Dr. Alanna Levine: It's natural for a mother to worry about the health of her baby during her pregnancy. However, once she is told her ultrasound and genetic testing are normal, most expectant mothers breathe a sigh of relief. However, not all medical problems can be picked up during routine screening, as was the case for Brielle Garrison. Baby Brielle was born without eyes, a condition called anophthalmia. About 30 in every 10,000 children are born with this rare condition.
Anophthalmia is rare, and the cause is unknown -- genetics and environmental exposures may play a role. There is no treatment to restore vision, but multiple cosmetic procedures are necessary to make space in the eye sockets for prosthetic eyes. On average, a child will need new prostheses every few weeks until age two, and then three or four between the ages of 2 and 10.
As a pediatrician, I attend many deliveries each week and frequently I am asked, "Ten fingers and ten toes?" Delivering good news is always easy and joyous, but few things are harder than having to tell new parents that there is an abnormal finding, even if it's as minor as a birthmark.
Many people ask about broadening the screening process during pregnancy. Why don't we just test for everything? This is not feasible -- you have to know what you are looking for. In conditions such as anophthalmia that aren't passed on from generation to generation, it's incredibly difficult.
|Dr. Alanna Levine is a pediatrician in private practice and on staff at Englewood Hospital and Medical Center, where she attends high risk deliveries and cares for babies in the Neonatal Intensive Care Unit. She is a national spokesperson for the American Academy of Pediatrics and frequently appears on television as a medical expert. Dr. Levine lives in New York with her husband and their two children.|