In her fourth month of pregnancy, Kristi Saul of Oklahoma City, Okla., found out she was carrying a child with spina bifida, a birth defect that would likely result in some degree of permanent disability. “It was a stressful time,” Saul recalls.
Although her doctor gave her some information about spina bifida and Saul read as much as she could find about the condition on the Internet, there were still many unanswered questions. It was impossible for the doctor to predict prior to the baby’s birth how severe the disability would be. And even now that Saul’s child Marley is 3 years old, doctors are unable to say exactly what she’ll be able to accomplish in the future because there is great variation in development among individuals with spina bifida.
Spina bifida is the most common permanently disabling birth defect. It occurs in approximately one in 1,000 births. According to the Spina Bifida Association of America (SBAA), there are an estimated 70,000 people in the United States living with this condition.
Spina bifida is one of several neural tube defects. The neural tube is a group of cells that eventually develop into the brain and spinal cord. Very early in the embryo’s development, if the neural tube fails to form properly, it results in the incomplete closure of the spinal column. In the most severe form of spina bifida, the spinal cord and nerves protrude through an opening in the individual’s back.
It’s not entirely understood what causes spina bifida, but it is believed that this condition is a result of a combination of genetic and environmental factors. Women who are obese, who have poorly controlled diabetes or who are taking certain anti-seizure medications are more likely to have a child with spina bifida.
It is also thought that a deficiency of folic acid, a B vitamin that helps the body make healthy new cells, may be a factor. In addition, those who are Hispanic are more at risk of having offspring with spina bifida than other ethnic groups. Spina bifida can be detected prenatally through blood testing, ultrasound examination and amniocentesis.
Spina bifida can affect several parts of the body. Some of the most common problems are:
Paralysis of the lower extremities: Loss of motor function varies depending on the point on the spinal cord where the undeveloped area occurs. The defect in the spine may occur in the middle of the back, the lower back or at the base of the spine. If the problem is higher up on the spine, there is greater paralysis and loss of motor function.
Hydrocephalus: Most babies born with spina bifida develop a condition called hydrocephalus, which is a buildup of excess fluid in the brain’s ventricles. This is caused by changes in the cerebrospinal fluid circulation due to the defect in the spinal cord and a condition called the Chiari II malformation, which most individuals with spina bifida have. In Chiari II, the brain is located farther down in the upper spinal column than it should be, resulting in a change in the flow of cerebrospinal fluid.
Bowel and bladder problems: Often the nerves that control bowel and bladder function are damaged, resulting in problems with bowel and bladder control.
Learning difficulties: Although the vast majority of people with spina bifida are of a similar intelligence to individuals without disabilities, problems with the brain associated with the Chiari II malformation and resulting hydrocephalus often cause problems with attention, long-term memory, comprehension, eye-hand coordination, planning and organization.
Secondary problems: Secondary complications related to spina bifida include obesity, skin breakdown, latex allergy (due to multiple exposures to latex during procedures), depression and sexual issues.
The most important aspect of treatment for spina bifida involves surgery that puts the nerves and spinal cord back into the spinal canal and covers it with bone and skin. This is generally done within a day after birth, although in several locations within the United States doctors are experimenting with performing this procedure prenatally. While earlier surgery may keep nerve damage from progressing during pregnancy, doing such a procedure poses a risk to both the fetus and the mother.
If there is hydrocephalus present, a shunt is placed from the ventricles of the brain into the abdomen to allow excess spinal fluid to drain into the body. This will correct the buildup of fluid but will not reverse damage that has already been done. Children who have shunt surgery will need to be monitored for signs of shunt blockage and may need shunt replacement periodically during their lives.
Problems with bladder emptying are corrected by using a clean catheter to drain the bladder at intervals each day. Over time, many children with spina bifida will learn how to do this procedure themselves. Bowel problems are addressed with diet, medication and bowel training.
Early intervention for help with motor development is crucial. Most children with spina bifida are eventually able to walk with the help of leg braces and/or crutches, though some may need a wheelchair to get around. Early intervention also can help with fine motor skill development, which is important for learning and for promoting dexterity for future self-care activities such as catheterization. When a child with spina bifida enters school, it’s imperative that parents and other caregivers work closely with the child’s teachers to develop a plan to ensure maximum learning potential.
It’s crucial to help a child who is facing a lifetime of permanent disability to think in terms of what he or she can do rather than what she cannot do. “Everybody’s good at different things,” says Saul, who ends each day with Marley by stating affirmations. “We talk about her unique qualities.”
Saul also emphasizes the importance of helping a child with spina bifida participate in community activities such as swimming at the local YMCA or going to the library. She believes it is good for both the disabled child and others around her to acknowledge that each person has weaknesses – and strengths.
The outlook for a child with spina bifida is much brighter than it was even 15 years ago thanks to surgical intervention and improved medical knowledge about maintaining optimum health. Most children with spina bifida live a normal or nearly normal lifespan, attain independence and work at competitive jobs.
What advice does Saul have for parents who have just learned that their child has spina bifida?
“Stay open to the possibilities,” she says.
For more information about spina bifida, visit the Spina Bifida Association’s Web site.