Out of the Darkness (page 2 of 4)

The Diagnosis

A nurse wheeled the babies to a treatment room near the OR. There Richard Koty, MD, a pediatric ophthalmologist, revealed the official diagnosis: severe microphthalmia—small or nonexistent eyes. “Unfortunately, there’s nothing in the eye socket that’s healthy, that’s viable, that the baby would be able to use to see,” Dr. Koty explained to the parents.

In the recovery room, Karen and Jeff were finally left alone to absorb the shock. Still dazed, Jeff walked over to Dylan’s bassinet at the foot of the bed, picked him up and placed him in Karen’s arms. “Part of me was thinking, How am I going to do this? And why did God do this to me?” Karen recalls. “But then I saw how cute he was—like a helpless little bear cub that hadn’t opened his eyes yet.” And for a moment, grief gave way to a smile as she gazed into the face that could not look back and pressed her cheek against Dylan’s.

Severe microphthalmia and anophthalmia (absent eyes) are extremely rare, affecting only 1 out of 10,000 infants a year. No one is sure what causes it. Many doctors suspect a genetic defect is passed from one or both parents, though exposure to environmental toxins—like certain drugs, viruses or pesticides—during pregnancy is another theory.

Nothing could have been done to fix Dylan’s eyes in utero. Whole eye transplants aren’t possible now, though doctors are working on advances that may repair parts of the eye, such as retina transplants and optic nerve regeneration. All this could lead to other vision breakthroughs in the future.

The Jacobsons had even more to worry about. Some of the genes that control eye growth also program development of the brain, heart and kidneys. Dylan would need scans to rule out other potential health problems. And equally pressing was the issue of Dylan’s skull growth. The head grows and molds around the eyes. Without any eyes, Dylan’s orbits would not grow properly and his skull would soon start to take on a narrow, sunken-in look.

Back at home, between changing diapers, timing feedings and carving out time for their other three children, Karen and Jeff tried to regain a sense of normalcy. Jeff returned to work a few days after the birth but was so distraught, his boss sent him home. Karen glued herself to the phone. She needed to get Dylan on the list for therapists and state services as soon as possible, but more urgently, she needed to find him a specialist who could tell them what they needed to do next.

One night Karen flicked off all the lights and closed her eyes. Arms and hands extended, she felt her way from the couch to the tops of the green wooden kitchen chairs, bumping along the wall in the dining room, around the corner to the hall and along the oak banister up the stairs, trying to imagine the challenges that lay ahead for her little boy.

When Dylan was two weeks old, Karen took him to the office of a prominent New York City pediatric ophthalmologist. The doctor took one look at the baby and said, “Well, this young man’s never going to fly airplanes.” He referred Dylan to another ocular specialist, but after seeing how young he was, and being put off by the first doctor’s comment, Karen kept searching. Then a family friend told Karen’s mother about a top pediatric eye doctor who had recently treated several Bosnian and Middle Eastern children whose eyes were injured during the wars.

On a warm summer day, Karen carried her son into the second-floor office of Pamela Gallin, MD, director of pediatric ophthalmology at the Edward S. Harkness Eye Institute at New York-Presbyterian (Columbia) Hospital. “What a beautiful baby,” Dr. Gallin said when she unwrapped the blanket. She had seen microphthalmia before, but usually it was just one eye that was missing. Two eyes was a very uncommon case.

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