Second Chance for Baby Ethan
updated 05/08/2000 AT 01:00 AM EDT
•originally published 05/08/2000 AT 01:00 AM EDT
Ethan, as their child is named, wiggled his legs a bit, sprayed urine on a nurse and cried lustily. All good signs. After a neonatal exam he lay surrounded by his parents, big brothers Andrew, 5, and Benjamin, 4, and, later, a dozen other relatives. "Hi, little guy," murmured Jennifer, gently stroking her new son's arm and fingers. "Hi, sweetheart." Announced Andrew: "I'm going to teach Ethan how to do backflips and somersaults. I'm going to teach him how to whistle and how to spit."
Even the last would be cause to rejoice. Ethan is one of 2,000 American children born each year with spina bifida, the most common neurologically disabling birth defect in the U.S. Manifesting itself within a month after conception, spina bifida consists of a congenital hole in the spine that allows the spinal cord to protrude and the fluid that directs brain development to leak out. This, in turn, causes extensive damage to the brain and body. Until a quarter century ago there was no corrective surgery for babies with spina bifida, and many died shortly after birth. In the mid-'70s, however, neurosurgeons started operating on newborns, closing the spinal column and allowing many to survive into adulthood. But surgery at birth couldn't undo the devastating disabilities that can be wrought during months in the womb: stunted and even paralyzed limbs, loss of bladder and bowel control and diminished mental capacity.
Ethan may be spared many of these afflictions thanks to a medical advance that just a decade ago would have seemed the stuff of science fiction. In a sense he was born twice; three months before his formal debut Ethan emerged briefly from his mother's body for a preview of the outer world. Last Oct. 27, in Nashville, he underwent corrective prenatal surgery performed by Dr. Joseph Bruner, director of fetal diagnosis and therapy at Vanderbilt University Medical Center, and Dr. Noel Tulipan, a pediatric neurosurgeon. Bruner removed Jennifer's uterus, placed it on her abdomen and made an incision in the womb; then he went to work repositioning the fetus, and Tulipan stitched closed the hole at the base of Ethan's spine. The womb was sewn closed and reinserted into Jennifer's abdomen. There Ethan remained until Jan. 11, in the 36th week of his mother's pregnancy. A pioneer in the field of fetal surgery (he and Tulipan have performed this operation about 90 times), Bruner, 46, advised the Buchkoviches to be restrained in their optimism. "Ethan will probably walk with braces," he told them. "We thought this repair might help bowel, bladder and lower-limb functions, but it doesn't always work out that way. In the long run we may find out differently."
Dr. Kauffman, 34, Jennifer's obstetrician, was cautiously supportive of the surgery, which has so far yielded mixed results. "Some have had pretty good success and some haven't," he says. "We will have to wait for these kids to become toddlers to see how they do." But it's already clear that fetal surgery can help alleviate one of the worst consequences of spina bifida: hydrocephalus, an excessive accumulation of the cerebral fluid that cushions the brain from the skull but which in a greater-than-normal amount exerts damaging pressure on the brain. For decades hydrocephalus has been treated with a shunt, a tube placed in the brain that allows fluid to drain into the stomach, where it is absorbed. Shunts, however, bring their own problems.
"They are the bane of pediatric neurosurgery," explains Tulipan, 48. "They need to be replaced, they get infected and they never go away." Thus far the surgery he and Bruner developed has eliminated the need for shunts in half their patients. "That would be the most dramatic improvement in the care of these children I have seen in my lifetime," says Dr. David McLone, head of pediatric neurosurgery at Children's Memorial Hospital in Chicago. "A couple of studies show that shunts cause a significant mortality over 20 years. If you can get rid of the hydrocephalus and the shunt, you have done these children a tremendous service."
A deeply religious couple who live in Windber, Pa., outside Johnstown, the Buchkoviches knew there were no guarantees. "But even if Ethan might be the same with or without the surgery, at least we tried to make him better," says Brian, 32, an Air Force veteran and computer-network administrator. So far the early returns are encouraging. Though Ethan was born with clubfoot, a common spina bifida defect that can be partially corrected with surgery, other signs are promising. "He is moving his legs, his bowel and bladder movement have been good," says Jennifer, 31, a former high school math teacher who writes training courses for federal government employees. "Things are working pretty well."
The Buchkoviches have had a brush with serious illness before. In 1991, after his late father, Lew, suffered a stoke, Brian was given a hardship discharge from the Air Force so he could return to Windber and take over the family hardware store. The silver lining was that his homecoming led him to Jennifer. "Don't I know you?" Jennifer asked when they met in a restaurant. "Then I heard his distinctive laugh, and I remembered." Brian, it turned out, had been a softball buddy of someone she had dated in high school. Brian and Jennifer married the following year, by which time he had reenlisted and been assigned to Scott Air Force Base outside Belleville, 111. Jennifer taught mathematics in nearby O'Fallon and over the next four years gave birth to Andrew and Benjamin. Meanwhile, Brian, who had attended the University of Pittsburgh in Johnstown, finished his computer-science degree at McKendree College in Lebanon, 111., and left the service for good in 1996. Last year the Buchkoviches bought a three-bedroom white-brick home back in Windber. By summer, Jennifer was pregnant with Ethan and in her second trimester took a routine test to detect defects such as spina bifida. Though the results indicated spina bifida, Jennifer knew the procedure often yielded false positives and at first regretted taking it.
"I thought, 'Why in the world would I ever have done this, put myself under stress?' " she recalls. But a Sept. 17 ultrasound confirmed the worst. "Then I was glad I'd had it done," she says. "I would not want to find out Ethan had spina bifida the day he was born. Now I had an option to do something to help him." Abortion, says Brian, was never considered. "We strongly believe that you are given what you are meant to be given, and you make the best of it," he says. "To abort the baby just because it would make it easier would have been very selfish. We saw his heart, his hand and feet. He was sucking his thumb."
Once over their initial shock, the couple began searching the Internet for possible treatments. The quest led them to a Web site devoted to the spina bifida fetal surgery program at Vanderbilt, one of only three medical centers in the country where the procedure is performed (the others are Children's Hospital of Philadelphia and the University of California in San Francisco). Last October they flew to Nashville and met with Bruner and his team. A married father of three—his wife, Angel, runs the Web site—Bruner earned his medical degree at the University of Nebraska and in 1990 came to Vanderbilt, where he is associate professor of obstetrics, gynecology and radiology. He and Tulipan first tried the fetal surgery in 1994, trying to reach the lesion on the fetus's spine laparoscopically through the abdominal wall. But the procedure was too unwieldy and yielded disappointing results. Then in April 1997, Bruner first attempted something like the current method, which has proved increasingly successful.
"We learn new stuff every day," he says. "Our diagnostic and operative techniques are getting better. We're using less medication and better instruments and having fewer complications." Caveats aside, Bruner had high hopes for Ethan because the lesion was near the base of the spine, affecting fewer nerves. "You guys are in the best-case category," he told the Buchkoviches.
The morning of the surgery Jennifer received a sedative that "made me a little loopy," she recalls. Then an anesthesiologist administered an epidural. "I was pretty-groggy when I left for the OR," she says. "I remember Brian kissing me, and then I said a prayer that Ethan and I would make it through surgery. They strapped my arm down, and after that I don't remember a thing."
At 1:43 p.m., Bruner began. Making a "bikini cut" that would minimalize the scar on Jennifer's lower abdomen, he pulled out her uterus and rested it on her stomach. He then took a needle-like device called a trocar, designed specifically for this kind of surgery, and pushed it through the uterine wall to drain out the amniotic fluid. "Like tapping a keg," he explains. The fluid was stored in a warming bath, to be returned to the uterus after the operation. Meanwhile, Bruner used an automatic stapler, an instrument that simultaneously cuts a 3-in. incision in the uterus and staples the edges so "all the layers of the uterine wall are held together and there is no bleeding."
With his gloved hand, Bruner moved Ethan so that the lesion in the baby's back was visible. Tulipan took over, closing Ethan's spinal lesion with sutures as fine as human hair and a needle so small that it can be seen only with special magnifying glasses. Afterward, nine syringes of amniotic fluid were restored to the uterus, then Bruner closed the incision in the uterus and placed it back inside Jennifer. At 3:10 p.m., the operation was complete.
Throughout, Brian agonized in the waiting room. "I was very worried about the possibility that we could lose Ethan and something could happen to Jen," he says. "That was driving me nuts. I was a wreck by the time I got the call from the recovery room and everybody was fine." For the next three months the couple waited out Jennifer's pregnancy. Until early January she wore a small 24-hour pump under her skin that gave her minuscule amounts of terbutaline, a medicine that prevents contractions, which could cause an early birth. Finally, on Jan. 10, eight months into her pregnancy, amniocentesis showed that Ethan's lungs were mature. A cesarean was scheduled for the following day.
Now almost 4 months old, Ethan is settled in a room with a blue ceiling border depicting Noah's Ark and matching bumpers on his crib. At 14 lbs., he wears splints on his legs to straighten his feet. More important, a recent MRI indicated only mild hydrocephalus, meaning Ethan won't need the dreaded shunt—for the present. "We're in a holding pattern," says Brian. "But in a couple of years we may be saying, 'Thank God we had the surgery.' " Feeding her son, Jennifer savors each moment. "He's my miracle baby," she says. "Ethan is beautiful."
"I agree," says Dr. Bruner. "But remember, I saw him first."
Giovanna Breu in Nashville and Windber