New Hope for Spina Bifida

Angeline Gonzalez-Abreu of Hollywood, Fla., is a bright, beautiful, chatty 2-year-old. She’s also strong-willed and determined, qualities that will stand her in good stead as she faces the challenges of growing up with spina bifida.

“I think Angie is very special, but I don’t want her to think she’s ‘special needs’ because I don’t want her to view herself in that way,” says Angeline’s mother, Emily Gonzalez-Abreu. “I want her to keep that strong urge to try and to succeed.”

According to the Spina Bifida Association of America, spina bifida is the most commonly-occurring permanently disabling birth defect, affecting one of every 1,000 newborns. In spite of that, spina bifida has a short history simply because until just 15 or 20 years ago, children with spina bifida rarely lived past childhood. However, in that time, advances in surgical care, infection control and an increased focus on adaptive life skills have allowed children with spina bifida to grow into adults with spina bifida. And they are adults who are not disabled but able and willing to meet the challenges of living in a world that has to be continually educated about adapting to all abilities.

About Spina Bifida

Spina bifida is a neural tube defect that occurs early in pregnancy, often before a woman even realizes she is pregnant. At some point during this time in the embryo’s development, the neural tube (which develops into the brain, spinal cord and vertebral column) fails to form properly, leaving the spinal cord exposed. The result is varying degrees of paralysis and loss of sensation.

The severity of spina bifida is dependent upon two factors. The first is where along the spine the defect is located. The second is whether the child experiences symptoms of paralysis and loss of sensation above or below the affected area.

To understand both factors, it’s helpful to know that the spine is divided into three sections. The top is the cervical (neck) area, which is comprised of the upper seven vertebrae in the spine. Lesions in this area often do not cause paralysis. Below that are the 12 vertebrae that comprise the thoracic region (around the ribs). After that are the five lumbar vertebrae of the lower back. Last are the fused vertebrae of the sacrum and coccyx. Generally, the higher the lesion, the more severe the symptoms, so a child with L-3 spina bifida has a lesion on the third lumbar vertebrae. A child with T-5 has a lesion on the fifth thoracic vertebrae and, thus, a more severe case. Sometimes multiple vertebrae are affected.

As for functionality, that depends upon the highest level where paralysis and/or lack of sensation occur. For example, a child may have an L-5 lesion, but function as an L-1 because that’s where the paralysis begins. In other words, it’s not an exact science, and there’s no way to conclusively categorize any child until they are old enough to have measurable motor skills.

Other issues with spina bifida can be even more challenging to deal with. Usually, even in the mildest cases of spina bifida, there is loss of bowel and bladder control. As a result, the bladder is emptied through catheterization. Until a child learns to do the procedure, he or she has to rely on others.

In addition, most children with spina bifida also develop hydrocephalus, which results when cerebral spinal fluid builds up inside the head and causes pressure in the brain. These children are operated on shortly after birth to have a shunt placed in their brain to help drain the fluid, but this doesn’t correct damage that has already been done. Thus, children with spina bifida can be prone to learning disabilities and, as they get older, have difficulty with organization and time management issues.

Uncharted Waters

Because until recently children with spina bifida didn’t have a very long life span, there aren’t many “old” people with spina bifida. Now, with the first wave of stable spina bifida children reaching adulthood, there has been an increased focus on teaching children with spina bifida life skills so they can live independently.

Cindy Brownstein is the CEO of the Spina Bifida Association of America (SBAA). She says that many of their 58 nationwide chapters have begun to address the needs of teens and young adults with spina bifida. But it starts even younger. Most chapters host camps for children with spina bifida with counselors trained in the special needs of these children. The camps are a first step for young children to see others who face the same challenges. As they get older, especially in the adolescent and teen years, camp becomes even more important as a social outlet.

“I know a lot of young people with spina bifida who are holding good jobs and living solid, independent lives,” says Brownstein. “They’re working, living alone, meeting, dating – everything a young person is interested in doing.” The key, says Brownstein, is letting go.

Gabriela Jackson, of Godley, Texas, is trying. She knew nothing about spina bifida until she found out 17 weeks into her pregnancy when a sonogram discovered hydrocephalus. Her daughter, Cassidy, now 3, is highly functional, but does have to be catheterized. She currently walks with leg braces, and it has been suggested to Jackson that she’s old enough for a wheelchair, but Jackson worries that the chair will prompt Cassidy into “taking the easy way out.”

On the other hand, she hasn’t yet started Cassidy in a playgroup or preschool yet because she worries about Cassidy’s instability when she’s on her feet and about having someone catheterize her who doesn’t have a medical background. “To me, Cassie’s safety is paramount,” says Jackson. “At this age, the children want to run around and hug, and I’m worried she’ll be easily knocked down. Also, the law doesn’t require that a nurse catheterize her, and I’m not comfortable with just anyone doing that.”

Emily Gonzalez-Abreu of Florida, on the other hand, recently had to fight for her daughter’s right to attend daycare because of the issue of catheterization. Angeline had been attending a daycare center at the university where her father works. The teachers were trained to catheterize her, and everything seemed to be going fine. Then the university’s attorneys contacted Gonzalez-Abreu and told her that, due to insurance issues, they would not be allowed to catheterize Angeline any longer. Gonzalez-Abreu was stunned at the decision; not only had there been no problems that she knew of, but she’s well known for her activism on behalf of people with spina bifida, and her husband is a well-respected researcher in the field of autism.

Gonzalez-Abreu tried to reason with the university’s lawyers, consulting often with her intervention caseworker but had no luck. Finally, she wrote to Florida Governor Jeb Bush. To Gonzalez-Abreu’s amazement, he took up her cause. The problem is now solved, but Gonzalez-Abreu is even more dedicated to educating the public about spina bifida.

Brownstein applauds Gonzalez-Abreu’s fighting spirit. “The most successful people I know with spina bifida are those who had parents that made sure they got involved in sports – either wheelchair sports or regular sports that had been adapted,” says Brownstein. “They need to be treated just as you would an able-bodied child. These kids are part of our society and part of our community, and they’ll be more successful members if they’re taught at an early age to deal with life as it comes.”

Folic Acid and Spina Bifida

When a child is born with a birth defect or disability, it’s easy to feel guilty. Shannon Nunnery initially blamed herself when she discovered, at 20 weeks gestation, that her fetus had spina bifida. Eventually, she realized that sometimes things happen that are beyond human control.

In the case of spina bifida, there has been so much information about the importance of folic acid in the diet of any woman who is of childbearing years that a woman who didn’t take supplements before she knew she was pregnant may feel that she caused the condition. The reality is that, although folic acid is credited with a great reduction in spina bifida cases, it is not a miracle cure. Even women who took the supplements religiously give birth to babies with spina bifida.

Cindy Brownstein, CEO of the Spina Bifida Association of America, says no mother should ever feel guilt for any reason. “There is so much we don’t know about genetics and how this occurs and why,” says Brownstein. “Hopefully research will someday give us those answers, but right now we just don’t have them.”

Brownstein says that the Spina Bifida Association can help women and their husbands get through those early feelings of guilt by linking them up with support groups.

In the meantime, every woman of childbearing age who has any chance of becoming pregnant should take a supplement containing folic acid. Women who have spina bifida or who have had a child with spina bifida should consult with their physician about a higher level of folic acid.

Fetal Surgery for Spina Bifida

When Emily Gonzalez-Abreu was pregnant with her daughter, Angeline, she found out at 16 weeks that the baby had spina bifida. The doctors advised her to have fetal surgery to close the opening in the spinal cord, so when she was 23 weeks pregnant, Gonzalez-Abreu became the 88th person at Vanderbilt University Medical Center to have in-utero surgery.

During fetal surgery for spina bifida, the baby is partially removed from the womb, and the opening over the fetus’ spinal cord is sewn shut. It’s not a cure – the baby will still suffer from some level of impairment, but it does seem to lesson the severity of spina bifida by preventing further damage to the spinal cord. In addition, although it’s too soon to tell conclusively, the surgery seems to cut down on the severity of the hydrocephalus that often accompanies spina bifida, thus, leading to fewer developmental delays.

Shannon Nunnery, whose son Thaddeus was born in December 2001, had the surgery at Children’s Hospital of Philadelphia when she was 26 weeks pregnant. Thaddeus currently does not have a shunt, and doctors think he will eventually walk with ankle braces.

However, fetal surgery is still a relatively new procedure, and there are risks associated with it for both Mother and Baby. A good obstetrician who is experienced in high-risk pregnancy is essential in making the right decision.

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