Spina Bifida Awareness

Do you know what singer John Mellencamp, actor Bruce Payne, artist Frida Kahlo, and professional golfer Sebastian Garcia-Grout all have in common? You may be surprised to learn that each of these people was born with with one of the most common birth defects: spina bifida. Ranging from mild to severe, spina bifida affects the spinal column and is seen in about 1 in every 1,000 live births. Despite this high occurrence rate, many people are not very familiar with what spina bifida is or how people who have it are affected. This month is spina bifida awareness month, and below is some information about spina bifida, its causes, symptoms, treatment, and how you can help.

What is spina bifida?

“Spina bifida” means “split spine” in Latin. While it may sound scary, the condition can range from barely noticeable and undiagnosed to severe defects and disability. Spina bifida occurs when part of a baby’s spine fails to develop properly before birth, causing deformities in the vertebral column and sometimes involving the spinal cord. There are 3 types of spina bifida that range in their severity.

Spina bifida occulta is the most common and mild form of spina bifida in which the outer parts of the vertebrae do not close completely, but the spinal cord and meninges (outer membrane surrounding the spinal cord) are unaffected. Spina bifida occulta usually has no symptoms, and it’s estimated that about 10-20% of the population has undiagnosed spina bifida occulta. It is usually discovered when a person gets x-rays or an MRI for another reason.

The more severe cases of the condition are referred to as “open” spina bifida because the meninges and/or the spinal cord itself actually protrude through the baby’s skin. There are two types of open spina bifida. Meningocele is when the meninges protrudes through the spine and skin, and myelomeningocele is when both the meninges and the spinal cord protrude through the spine and skin in what looks like a sac on the baby’s back. Meningocele and myelomeningocele can be seen at birth or on a prenatal ultrasound and can have lifelong effects. Myelomeningocele is the most severe.

What are the symptoms of spina bifida? How is it treated?

Symptoms of spina bifida can vary greatly. As mentioned previously, spina bifida occulta usually goes undiagnosed. Sometimes, a dimple, a tuft of hair, or a red mark is seen on the lower back of people with spina bifida occulta. Some rare symptoms of spina bifida occulta include back pain, leg weakness and pain, scoliosis, numbness in legs and feet, and foot deformities. Tethered cord syndrome can occur in some people with spina bifida occulta, which is when the spinal cord attaches to the spinal column, causing back pain, leg weakness, and problems with bladder and bowel control. This condition can usually be corrected with surgery. The symptoms of the open spina bifidas, on the other hand, are more severe and lead to more complications. Typically, open spina bifida can be found before birth. Doctors can perform a surgery to correct open spina bifida within the first few days of the baby’s life, or sometimes even before the baby is born through fetal surgery. However, when the spinal cord is involved, it can become damaged, resulting in neurological impairment. Muscle weakness or paralysis can occur. Depending on where the opening occurs along the spinal cord, it may affect all of the limbs or just the legs. Seizures, problems with bowel and bladder control, and other skeletal deformities such as scoliosis are common. Life-threatening infections can occur when the spinal cord and surrounding tissues are exposed at birth.

What causes spina bifida?

It is thought that spina bifida is caused by genetic, environmental, and nutritional factors. There appears to be a genetic component to spina bifida because if a woman has one child born with spina bifida, the risk for her next pregnancy is about 20 times higher than the average woman. However, over 95% of babies born with spina bifida have no family history of the condition. Other risk factors that have been linked to spina bifida include maternal obesity, maternal diabetes, and taking certain anticonvulsants. However, one of the major contributors to spina bifida is lack of folic acid in the mother’s diet. This has been linked to other defects of the neural tube during development as well.

Living with spina bifida

While many people with closed spina bifida will never require any treatment or show symptoms, some people with open spina bifidas will be impacted for their entire lives. Some will be paralyzed and require a wheelchair for mobility. Others will be able to walk with the help of braces or crutches. Learning difficulties can also be present. Some people may use catheters or a bowel program to control their bladder and bowels. Overall the prognosis for infants born with spina bifida is good, with over 90% surviving well into adulthood and many having few to no restrictions or disabilities.

Preventing spina bifida

The risk for spina bifida cannot be completely eliminated, but consuming folic acid is extremely important in preventing spina bifida. It is recommended that pregnant women take folic acid supplements once a day, especially during the first 12 weeks of pregnancy, to help prevent spina bifida. Eating foods high in folic acid, such as broccoli, avocado, citrus, and asparagus are also encouraged. Overall, maintaining a sufficient, well-balanced diet during pregnancy is also important, as poor nutrition has been linked to spina bifida. Screening during pregnancy, through routine blood tests and ultrasounds, can usually detect spina bifida and help parents and medical professionals prepare for the birth.

October 25th is world spina bifida awareness day! To learn more about spina bifida, donate to the cause, or volunteer, visit http://spinabifidaassociation.org .

Caitlyn Mitchell is a genetic counseling graduate student at the University of South Carolina Genetic Counseling Program.

Find a genetic counselor at Palmetto Health USC Genetic Counseling or feel free to contact us at 803-545-5775 or genetics@uscmed.sc.edu.

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