Reasons to celebrate

Little Bristol Heller celebrates, not one, but two birthdays each year.

In addition to her traditional birthday observed every April 1, her parents Lindsay and Wade Heller throw a small party for her each "butt birthday" to honor the day nearly two years ago when Bristol — or rather her backside — made its first appearance outside the womb during a risky prenatal surgery for spina bifida, a birth defect that affects an estimated 1,500 babies in the U.S. annually.

Hers was only the 200th such procedure performed at the prestigious Children’s Hospital of Philadelphia and the first involving a family from Hawaii.

The Hellers, who live in Volcano, Hawaii island, celebrated yet again June 23 by attending the 18th annual Fetal Family Reunion at the Philadelphia hospital. They joined more than 300 other families with children who had undergone prenatal procedures at the facility’s Center for Fetal Diagnosis and Treatment.

While there, Bristol and the other former patients were examined by specialists and participated in family activities that were part of the festivities. The children spent time together, and "a boy came up and kissed Bristol," said Lindsay Heller, a 29-year-old math and science coordinator at the University of Hawaii at Hilo.

"When we went to visit the doctors, we saw couples with the same grave expressions that we probably had," she added. "I’m glad to be on the other side now. We were there with our babies and super happy."

IT WASN’T that long ago when the Hellers were hit with the devastating news that a routine prenatal ultrasound indicated their fetus had a malformed brain caused by spina bifida, which occurs when an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and nerves exposed through an opening in the back. In this case, it was myelomeningocele, a common and severe form of the birth defect in which part of the spinal cord and surrounding nerves push through the open vertebrae in the spine and protrude from the fetus’ back.

The condition leaves the spinal cord unprotected during fetal development. The prospects for children born with spina bifida include lifelong disabilities such as paralysis, bladder and bowel problems, hydrocephalus (excessive fluid pressure in the brain) and cognitive impairments.

At first it seemed the Hellers had few options. These included ending the pregnancy or having their baby undergo surgery soon after birth. But when they learned of the groundbreaking prenatal procedures performed at the Children’s Hospital of Philadelphia, the entire family, including Bristol’s brothers, Maddox, 6, and Lucas, 4, packed their bags and moved there.

A landmark federal study released in 2011 showed that children who underwent fetal surgery for spina bifida have much better outcomes than babies who have surgery after birth. But only 1 in every 3 to 4 patients evaluated for the procedure is a candidate for fetal surgery, according to the hospital, which participated in the study.

After comprehensive counseling, the Hellers’ surgery was performed Dec. 14, 2012, when Lindsay Heller was 21 weeks’ pregnant. With both mother and fetus under general anesthesia, the surgeon opened her uterus and rotated the 10-ounce fetus’ backside into view so the defect could be repaired to prevent further damage from exposure to amniotic fluid.

Afterward, the still-pregnant Heller required bed rest since premature birth is one of the risks of prenatal surgery.

"We had hoped that the surgery stopped the progressive damage to the nerves in the spine and relieved the pressure on the brain," said Wade Heller, a 30-year-old research molecular biologist for the U.S. Department of Agriculture.

At 37 weeks, Lindsay Heller was scheduled for a cesarean section and Bristol was born April 1, 2013.

About 85 percent of babies born with spina bifida require a shunt, a surgically implanted tube that drains fluid from the brain, but "she made it through the first year without a shunt," Lindsay Heller said. The couple also expected Bristol to have no feeling in her lower legs, but "she has full strength," Lindsay said. "Our doctor says that we were just lucky."

The family is back on the Big Island and occasionally flies to Oahu for doctor visits.

"We always look for things that will help with her therapy. We’re so excited when she does one little thing. You learn to appreciate things," Heller said. "She’s just started crawling and is getting into everything."

Her mother says Bristol can also pull herself to a standing position but isn’t quite ready to walk.

"She claps, waves and smiles all day long. She’s the light of our lives."

THERE IS also good news about Bristol’s cognitive abilities. During their recent visit to the Philadelphia hospital, Bristol passed developmental tests with an average or above-average rating for children her age and scored only a little below average on gross motor skills.

The Hellers hope their story will help other families dealing with spina bifida to "not feel so lost," Lindsay Heller said. "We asked the craziest questions and it’s nice to talk to someone who has been through it."

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Lindsay Heller can be contacted via email at hellerl@hawaii.edu.

ON THE NET:
» Spina Bifida Association: www.spinabifida­association.org
» Children’s Hospital of Philadelphia: www.chop.edu