Spina Bifida is a birth defect in which the normal layers of skin, muscle, or bone over the baby's spine fail to close properly during the first month of pregnancy. In its mildest form, Spina Bifida occulta, the gap is the only defect in the bone and not the other layers, and symptoms are rare. In the most severe form, myelomeningocele, the spinal cord and surrounding membranes are completely exposed, creating a bulging fluid-filled sac on the baby's back. Depending on where this opening occurs along on the spine, babies can have problems ranging from bladder issues to paralysis.
Spina Bifida is the most common neural tube defect. It affects 1,500 to 2,000 of the more than 4 million babies born each year in the United States, according to the National Institutes of Health. The exact cause is unknown, though certain factors, such as taking folic acid before and during pregnancy, have been associated with lower risk. The defect is usually detected during pregnancy through an ultrasound, blood test, or amniocentesis.
The damage to the spinal cord and nerves that occurs with Spina Bifida can't be reversed. Doctors typically operate within 48 hours of the baby's birth to prevent additional damage to the spinal cord and to prevent infection. The goal of surgery is to close the layers of tissue and skin over the spinal cord. After the surgery, a baby usually stays in the neonatal intensive care unit (NICU) for 7 to 10 days. Doctors monitor the little one, making sure his bladder empties correctly. They also monitor for hydrocephalus, the build up of cerebrospinal fluid (CSF) that can occur in many babies with myelomeningoceles. They track the baby's breathing and vital signs.
Difficulty breathing or swallowing is sometimes a sign of a condition called a Chiari II malformation. With this condition, part of the cerebellum extends down into the spinal canal. "With myelomeningocele, because that fluid is leaking out the back of the sac, it pulls the cerebellum down much, much farther," explains Gregory G. Heuer, M.D., attending neurosurgeon at The Children's Hospital of Philadelphia. The spinal fluid that leaks out during development leads to the Chiari II malformation and can lead to symptoms after the child is born. Not all Chiari II malformations have symptoms, but some can interfere with swallowing and breathing and lead to the compression of the spinal cord. If those symptoms appear, doctors operate to remove a small piece of bone from the skull and spine to relieve the pressure, Dr. Heuer says.
A Chiari II malformation may block the cerebrospinal fluid from circulating properly, causing excess fluid to build up around the brain. That condition is called hydrocephalus. The majority of kids with myelomeningocele end up with hydrocephalus. In those instances, doctors often perform a second surgery shortly after birth to put in a shunt, a thin tube that relieves pressure on the brain by draining the extra fluid into the abdomen, where it is absorbed into the bloodstream and eventually expelled from the body naturally.
Post-surgeries, babies continue their regular care at a specialized Spina Bifida clinic, where they can see a team of experts, including neurosurgeons, urologists, orthopedic surgeons, physical and occupational therapists, and social workers, all on the same visit, Dr. Heuer says. They may start with monthly visits that decrease in frequency over time, depending on the extent of their impairments. It is generally recommended that babies who have Spina Bifida start receiving therapy almost as soon as they go home from the NICU to facilitate and promote development.
The extent of disability varies among children with myelomeningocele. If the sac was low in the spinal column, they may need crutches or leg braces to walk. If it was high, they'll most likely need a wheelchair. Most people will have some degree of paralysis, but the level varies depending on the severity of the sac. Some babies also have abnormalities in their hips, knees, and feet that may require surgery in the future.
Bladder and bowel problems are also very common in children with myelomeningocele, Dr. Heuer says. The nerves that control the bladder are the lowest cords on the spinal cord. The resulting damage may make babies more likely to develop urinary tract infections and may cause damage to their kidneys as a result of abnormal urine flow. Therapists may teach kids special techniques to improve their bladder and bowel control and minimize infection.
Some women and babies are eligible for fetal surgery, which has been proven to lessen Spina Bifida's detrimental effects. A handful of hospitals around the country operate to close the Spina Bifida gap while babies are still in the womb. The surgeries are performed between 19 weeks and 25 weeks, six days' gestation. A study on the fetal surgery for Spina Bifida, sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, showed promising results. Babies who underwent fetal surgery for Spina Bifida were much less likely to need a shunt to relieve hydrocephalus and were much more likely to walk and score higher on tests of motor function than kids who had Spina Bifida surgery after birth. "This really is a big therapeutic breakthrough in Spina Bifida," says N. Scott Adzick, M.D., founder and director of the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia and one of the leading innovators in the Spina Bifida fetal-surgery field. Doctors say amniotic fluid does ongoing damage to the spinal cord throughout the pregnancy, and that fetal surgery to repair Spina Bifida early on prevents some of that damage. Still, fetal surgery carries a significant risk of preterm labor and only a select number of women are eligible for the procedure.
The treatments that Spina Bifida patients receive can make a huge difference, doctors say. Dr. Adzick recalls a photograph a patient's mother sent him of her toddler son playing on the beach, specifically of his little footprints in the sand. "It's amazing." Dr. Heuer adds: "Children with Spina Bifida have a lot of obstacles to overcome in life, but many of them are healthy and happy."
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