What is Spina Bifida? Symptoms, Causes, & Treatment

Spina bifida is a birth condition where the spine doesn't form completely during pregnancy. This happens when the neural tube, which becomes the spinal cord and brain, doesn't close properly in the first month of pregnancy.

The name literally means "split spine" in Latin. While this might sound scary, many people with spina bifida live full, active lives with proper medical care and support. The condition affects each person differently, ranging from very mild cases you might not even notice to more complex situations that require ongoing care.

What are the types of Spina Bifida?

There are three main types of spina bifida, each affecting the spine differently. Understanding these types helps explain why symptoms can vary so much from person to person.

Spina bifida occulta is the mildest form. Here, there's a small gap in the spine, but the spinal cord and nerves are usually normal. Many people don't even know they have it because it rarely causes problems. You might only discover it during an X-ray for something else.

Meningocele involves a sac of fluid pushing through the opening in the spine. The spinal cord itself stays in place, which is why this type often causes fewer complications. The sac appears as a bulge on the back that doctors can usually repair with surgery.

Myelomeningocele is the most serious type. Both the spinal cord and nerves push through the opening, creating a sac on the back. This form typically causes the most significant challenges because the exposed spinal cord can be damaged.

What are the symptoms of Spina Bifida?

The symptoms you might notice depend entirely on which type of spina bifida someone has and where it occurs on the spine. Let me walk you through what families often observe.

For spina bifida occulta, symptoms are usually very mild or completely absent. Some people might have a small dimple, patch of hair, or birthmark over the area of the spine where the gap exists. Most people with this type live completely normal lives without any complications.

With meningocele, the most obvious sign is a sac-like bulge on the back, usually covered by skin. Walking and bladder control are typically normal, though some people might experience minor coordination issues or learning differences.

Myelomeningocele presents more noticeable symptoms that families usually detect early. These can include weakness or paralysis in the legs, difficulty with bladder and bowel control, and challenges with walking. The level of the spine where the opening occurs determines which functions are affected.

Some children with more severe forms might also experience hydrocephalus, where fluid builds up in the brain. This can cause the head to appear larger than usual and may affect learning and development.

What causes Spina Bifida?

Spina bifida happens when the neural tube doesn't close properly during the first month of pregnancy, often before many women even know they're pregnant. The exact reason this occurs isn't always clear, but several factors can increase the likelihood.

Folic acid deficiency is the most well-understood cause. This B vitamin is crucial for proper neural tube development. When there isn't enough folic acid during early pregnancy, the risk of spina bifida increases significantly. That's why doctors recommend folic acid supplements for women who might become pregnant.

Genetics also play a role, though spina bifida isn't directly inherited like eye color. If you have one child with spina bifida, the chance of having another affected child is slightly higher than average. Having a family history of neural tube defects can also increase risk.

Certain medications can interfere with how the body uses folic acid. Anti-seizure medications, particularly valproic acid, can increase the risk. If you take these medications and are planning pregnancy, talk with your doctor about the safest options.

Other factors that might contribute include diabetes that isn't well-controlled during pregnancy, obesity, and high body temperature from fever or hot tub use during early pregnancy. However, many babies with spina bifida are born to mothers without any of these risk factors.

What are the risk factors for Spina Bifida?

Understanding risk factors can help you make informed decisions, especially if you're planning a pregnancy. Keep in mind that having risk factors doesn't mean spina bifida will definitely occur.

The biggest risk factor is not getting enough folic acid before and during early pregnancy. Your body needs this vitamin to help the neural tube close properly. Women who don't take folic acid supplements or eat foods rich in folate have a higher risk.

Previous pregnancy with a neural tube defect increases your risk for future pregnancies. If you've had a baby with spina bifida, your doctor will likely recommend higher doses of folic acid for future pregnancies and may suggest additional testing.

Certain health conditions can also increase risk. Diabetes that isn't well-managed during pregnancy affects how the baby develops. Some genetic conditions that affect how your body processes folate can also contribute to higher risk.

Age and ethnicity play smaller roles. Women under 20 and over 35 have slightly higher risks, and Hispanic women have higher rates of neural tube defects compared to other ethnic groups. However, these factors are much less significant than folic acid intake.

When to see a doctor for Spina Bifida?

If you're pregnant, routine prenatal care includes screening for spina bifida. Your doctor will offer blood tests and ultrasounds that can detect neural tube defects early in pregnancy, usually between 15-20 weeks.

For families with a child who has spina bifida, regular medical care is essential. You'll want to see your child's medical team if you notice changes in movement, new weakness in the legs, or problems with bladder or bowel control that seem different from usual.

Signs that need immediate medical attention include sudden severe headaches, vomiting, changes in vision, or unusual drowsiness. These could indicate complications like hydrocephalus or shunt problems that need prompt treatment.

If you're planning a pregnancy and have risk factors, talk with your doctor before you start trying to conceive. They can help you optimize your health and ensure you're getting the right amount of folic acid.

What are the possible complications of Spina Bifida?

While thinking about complications can feel overwhelming, understanding them helps you know what to watch for and how medical teams can help manage them effectively.

Hydrocephalus is one of the most common complications, affecting about 80% of children with myelomeningocele. This happens when spinal fluid builds up in the brain, potentially causing developmental delays or learning difficulties. Surgically placed shunts can effectively manage this condition in most cases.

Mobility challenges vary widely depending on where the spine is affected. Some children walk independently, others use braces or walkers, and some use wheelchairs. Physical therapy and adaptive equipment help maximize independence regardless of mobility level.

Bladder and bowel control issues are common with more severe forms. This happens because the nerves that control these functions may be affected. Many management strategies, including medications and catheterization, can help people live comfortably and confidently.

Learning differences occur in some children, particularly those who also have hydrocephalus. These might include difficulty with attention, processing information, or organizing tasks. Early intervention and educational support can make a significant difference in academic success.

Less common complications include skin problems from decreased sensation, orthopedic issues like scoliosis or hip problems, and latex allergies from repeated medical procedures. Your medical team will monitor for these and provide appropriate care when needed.

How can Spina Bifida be prevented?

The most effective way to prevent spina bifida is taking folic acid before and during early pregnancy. This simple step can reduce the risk of neural tube defects by up to 70%.

All women of childbearing age should take 400 micrograms of folic acid daily, even if they're not planning pregnancy. Since neural tube development happens so early, often before you know you're pregnant, having adequate folic acid levels beforehand is crucial.

If you've had a previous pregnancy affected by spina bifida, your doctor will recommend a higher dose of folic acid, typically 4,000 micrograms daily, starting at least one month before conception. This higher dose significantly reduces the risk of recurrence.

Eating foods rich in folate also helps, though it's difficult to get enough from food alone. Good sources include leafy green vegetables, citrus fruits, beans, and fortified cereals. Many grain products are now fortified with folic acid specifically to help prevent neural tube defects.

Managing other health conditions before pregnancy is also important. If you have diabetes, work with your doctor to achieve good blood sugar control before conceiving. Avoid medications that interfere with folic acid unless absolutely necessary, and discuss alternatives with your healthcare provider.

How is Spina Bifida diagnosed?

Spina bifida is usually diagnosed during pregnancy through routine prenatal screening, though sometimes it's discovered at birth or even later in life for milder cases.

During pregnancy, your doctor will offer a blood test called AFP (alpha-fetoprotein) screening around 15-20 weeks. Higher than normal levels might suggest a neural tube defect. If this test shows elevated levels, your doctor will recommend additional testing to get a clearer picture.

Ultrasound imaging provides detailed views of your developing baby's spine and can often detect spina bifida directly. High-resolution ultrasounds can show the opening in the spine and help determine the type and severity of the condition.

Amniocentesis, where a small amount of amniotic fluid is tested, can confirm the diagnosis and provide additional information about the baby's condition. This test is usually offered when other screening tests suggest possible problems.

After birth, doctors can usually diagnose spina bifida by physical examination. They'll look for visible signs like a sac on the back or skin changes over the spine. Additional tests like MRI or CT scans help determine the extent of the condition and plan treatment.

What is the treatment for Spina Bifida?

Treatment for spina bifida depends on the type and severity, but the goal is always to help people live as independently and comfortably as possible.

For spina bifida occulta, treatment is usually not necessary since this mild form rarely causes problems. Your doctor might recommend monitoring during childhood to watch for any changes, but most people need no specific treatment.

Meningocele typically requires surgery to close the opening and remove the fluid-filled sac. This surgery is usually successful, and children often develop normally afterward with minimal long-term effects.

Myelomeningocele requires more comprehensive care starting immediately after birth. Surgery within the first few days of life closes the opening to prevent infection and further nerve damage. Some medical centers now offer fetal surgery during pregnancy, which may improve outcomes for certain babies.

If hydrocephalus develops, surgeons place a shunt system to drain excess fluid from the brain. This small tube redirects fluid to another part of the body where it can be absorbed safely. Regular monitoring ensures the shunt continues working properly.

Physical therapy begins early and continues throughout childhood and beyond. Therapists help children develop strength, coordination, and mobility skills. They also teach families exercises and techniques to support their child's development at home.

Occupational therapy focuses on daily living skills, helping children learn to dress, eat, and manage personal care tasks independently. Therapists also recommend adaptive equipment that makes daily activities easier and more manageable.

How to manage Spina Bifida at home?

Managing spina bifida at home involves creating routines that support your child's health and independence while maintaining a normal family life.

Skin care is particularly important for children with decreased sensation in their legs. Check daily for cuts, bruises, or pressure sores, especially if your child uses braces or a wheelchair. Keep skin clean and dry, and make sure shoes fit properly to prevent injuries.

Bladder and bowel management becomes part of your daily routine. Many children learn to use catheters or follow toileting schedules. Work with your healthcare team to find the approach that works best for your child and family situation.

Exercise and physical activity are crucial for maintaining strength and preventing complications. Swimming is often excellent exercise for children with spina bifida, as it builds strength without putting stress on joints. Encourage age-appropriate activities that your child enjoys.

Watch for signs that might indicate complications, such as changes in behavior, new weakness, or problems with shunt function if your child has one. Trust your instincts as a parent – you know your child best and can often detect changes before others notice them.

Maintain regular medical appointments even when everything seems to be going well. Your child's medical team can catch potential problems early and adjust treatments as your child grows and develops.

How should you prepare for your doctor appointment?

Preparing for medical appointments helps ensure you get the most out of your time with the healthcare team and don't forget important questions or concerns.

Keep a list of any changes you've noticed in your child's condition, including new symptoms, changes in mobility, or differences in bladder or bowel patterns. Even small changes can provide important information to your medical team.

Bring a current list of all medications, including dosages and how often they're taken. Include any supplements or over-the-counter medications your child takes regularly.

Write down questions before you go to the appointment. It's easy to forget what you wanted to ask when you're focused on what the doctor is telling you. Don't hesitate to ask for clarification if you don't understand something.

If your child has a shunt, be prepared to discuss any symptoms that might indicate problems, such as headaches, vomiting, or changes in behavior. Your observations at home are invaluable for monitoring shunt function.

Consider bringing another family member or friend to important appointments. They can help you remember what was discussed and provide support during potentially stressful visits.

What's the key takeaway about Spina Bifida?

Spina bifida is a manageable condition that affects each person differently, and with proper medical care and support, people with spina bifida can live fulfilling, independent lives.

The most important thing to remember is that prevention is possible. Taking folic acid before and during early pregnancy can significantly reduce the risk of neural tube defects. If you're planning a pregnancy, start taking folic acid supplements now.

For families living with spina bifida, remember that you're not alone. Medical advances continue to improve outcomes, and comprehensive care teams are available to support you and your child. Early intervention and consistent medical care make a tremendous difference in long-term outcomes.

Every child with spina bifida has unique strengths and challenges. Focus on what your child can do rather than limitations, and work with your healthcare team to maximize independence and quality of life.