Spina Bifida is a neural tube defect that occurs in the first trimester of the pregnancy. Spina Bifida is when the neural tube does not close properly, it literally means split spine. Normally, during the first month of a pregnancy, the two sides of the baby's spine join together to cover the spinal cord, spinal nerves, and meninges. Meninges are the tissues covering the spinal cord. The brain and spine at this point are just in the beginning stages of development. It is called the neural tube. Any birth defect involving the incomplete closure of the neural tube is referred to as Spina Bifida. There are three different types of Spina Bifida so not everyone's symptoms and stories are the same. The three types are called Spina Bifida occulta, Meningocele, and Myelomeningocele. Some symptoms occur within every type but for the most part, these forms of Spina Bifida are very different.Spina Bifida occulta is often so mild that those who have it are not aware they have it until they receive an X-Ray. According to Spina Bifida Association, also known as SBA, 10-20% of otherwise totally healthy people have this form of Spina Bifida. The most common symptoms are back and leg pain. Signs of Spina Bifida occulta could include a hairy patch, dark spot, dimple, or swelling on the back at the site of the gap in the spine. The next type of Spina Bifida I'm going to tell you about is Meningocele. This is the rarest type of Spina Bifida. The spinal cord is not affected. There are only mild disabilities. A sac pokes through a hole in the spine that contains the coating that protects the spinal cord, and also contains some spinal fluid. The final type of Spina Bifida I am talking about is called Myelomeningocele. This is the most severe type of Spina Bifida. In this type of Spina Bifida, the unfused part of the spinal column allows the spinal cord to protrude through an opening. This is sometimes called "open Spina Bifida." The meningeal membranes that cover the spinal cord also protrude through the opening over the spine. This forms a sac enclosing the spinal element. The spinal elements include meninges, cerebrospinal fluid, and parts of the spinal cord and nerve roots. Some affects of Myelomeningocele are leg paralyzation, the person could have trouble urinating or having a bowel movement due to the fact that the nerve damage makes it hard for them to sense when they need to go. There are other health problems associated with this type of Spina Bifida such as Hydrocephalus, Arnold-Chiari malformation, tethered spinal cord, and latex allergy. Hydrocephalus is very common in people with Myelomeningocele. 80-90% of patients with Myelomeningocele require a shunt. A shunt is a catheter (tube) that carries cerebrospinal fluid from a ventricle in the brain to another area of the body. A common type of shunt used in hydrocephalus patients is a Ventriculoperitoneal shunt, called a VP shunt for short. VP shunting is a surgical procedure that primarily treats hydrocephalus. Hydrocephalus is when excess cerebrospinal fluid (CSF) collects in the brain's ventricles. CSF cushions your brain and protects it from injury inside your skull. Too much CSF can cause brain damage which shows too much of a good thing is not always good for you. Hydrocephalus is also known as "water on the brain." The spinal defect in those with Spina Bifida is what prevents the fluid from draining normally. The fluid buildup causes pressure and excruciating headaches. If not treated correctly, hydrocephalus can lead to seizures, nervous system problems, or mental retardation. Most children with Myelomeningocele and some with the other forms of Spina Bifida have a condition called tethered spinal cord. Tethered spinal cord is when a piece of tissue holds down the spinal cord so it cannot move up and down as it should. Doctors can perform a surgery called spinal cord detethering to free the spinal cord. Affects of tethered spinal cord include leg weakness, curvature of the spine (scoliosis), pain in the back or legs, and bladder problems.
Although Spina Bifida is not as well known as some other birth defects, it is not new at all. Archaeologists have found skeletons that date all the way back to between 10,000 and 8,500 B.C. in Taforalt, Morocco that look to have Spina Bifida. Scientists believe Spina Bifida was common among those who lived there. Many skeletons that were found in Peru that date back to as early as 5,000 B.C. had abnormal spines. During an excavation in Egypt, 272 skeletons were found and of that 272, 3% had Spina Bifida occulta. When doctors first began to try and treat Spina Bifida, they were very unsuccessful. The patients more often than not died very soon after birth due to infection or from the pressure on their brain from hydrocephalus. The earliest documented surgery done on a child with Spina Bifida was done by Dr. Peter van Forest. He was a Dutch physician in the 1500's. His notes described a surgical procedure in which he removed a mass on the base of the neck, but, sadly, the child died. A review done on the surgical history of Spina Bifida shows that for almost 200 years (early 1600's to the mid-1800's), surgeons from around the world concluded that Spina Bifida was untreatable after having surgeries fail over and over again. Dr. Benjamin Bell, in the late 1700's, stated that Spina Bifida was "the most fatal disease to which infancy is liable; for as yet no remedy has been discovered for it… Experience shows, however, that every attempt of this kind should be avoided for hitherto the practice has uniformly proved unsuccessful. The patient has either died suddenly, or in the course of a few hours after the operation." I will give a brief timeline of events in the history of Spina Bifida starting in the 1600's. Nicolaas Tulp named the condition Spina Bifida in the mid-1600's, Giovanni Battista linked Spina Bifida to hydrocephalus in 1761, Rudolf Virchow named the condition Spina Bifida occulta, and finally Hans Chiari discovered in 1891 that in some children born with Spina Bifida, the lower part of the brain stuck out into the upper part of the spinal column. This is called respectively, the Chiari malformation.
Thankfully, doctors did not stop researching how to treat this unavoidable birth defect. As history progressed, so did medical knowledge. By the 1870's aseptic surgical techniques were introduced. This meant less infection which led to a lower mortality rate. Spinal closure surgeries were improving the survival rate but doctors were now faced with deaths that were being caused by untreated hydrocephalus. In the 1950's doctors came up with the idea to insert a needle into the soft spots of the baby's skull to drain excess fluid. While this worked, soft spots eventually close as the child grows. Neurosurgeons were not having much success while working on the development of a shunt. Then in 1955, Dr. John Holter welcomed a son who was born with Spina Bifida – and hydrocephalus. Dr. Holter worked day and night to try and invent a device to save his son's life, he started working with Dr. Eugene Spitz. Together they developed the Spitz-Holter valve or "shunt". This was the point in history where Spina Bifida took a dramatic turn. Mortality rates, which had been at 90%, turned to a survival rate of over 80%. Unfortunately, higher survival rates came at a price. Shunts were the most effective way to treat hydrocephalus but the needed frequent revision. In 1965 Dr. Richard Smithells and Dr. E.D Hibbard made the announcement in the Lancet medical journal about the connection between folic acid and neural tube defects. Much later, in 1998, the U.S government mandated that companies that make grain products add in folic acid. Since that mandate, the number of children born with Spina Bifida has gone down. Doctors D.J. Brock and R.G. Sutcliffe first discovered in the early 1970's high levels of alpha-fetoprotein in the amniotic fluid of babies born with neural tube defects. In the 1970's the leading cause of death in individuals with Spina Bifida was renal failure. Sanitary, periodic catheterization "all but eliminated the mortality rate associated with urological complications." The 70s and 80s are considered the "dark ages" of Spina Bifida care. A debate over the quality of life of individuals with Spina Bifida caused unnecessary pain, disability, and death for those born with Spina Bifida. This resulted in a medical pessimism toward Spina Bifida which still has not entirely gone away. In 1967, a panel of doctors conducted an evaluation of 522 cases of myelomeningocele in babies, from 1955-1962. At the end of the 7 year period, they decided there was "no place for the selection of patients for conservative treatment rather than operative treatment on the grounds of paralysis, deformity, or hydrocephalus present at birth." At the conclusion of this study, most centers in the United States adopted the practice of operating within 12 to 48 hours after birth, as opposed to waiting weeks, months, or in some cases even years. There was a doctor on the panel, named Dr. John Lorber, who did not agree. He was the leading voice of pessimism at this time. He argued to abandon the practice of treating most babies with Spina Bifida, instead only treating the most "promising" cases. Dr. Lorber wrote that the "majority of children have very few or no friends; most are left without jobs, have no chance of love or marriage, and when their exhausted parents can no longer cope, they will end their days in an institution." In his mind, rejection by society justified receiving no treatment and death. According to Dr. Lorber, disability equaled poor quality of life. Dr. Robert Zachary thought quite the opposite saying that "extreme disability is not synonymous with unhappiness and we are only at the beginning of finding ways of developing the capabilities of these patients…" Unfortunately, Dr. Lorber had the upper hand in this debate. He set the standards to predict which lives were "worth saving." His criteria became widely accepted internationally during the 70s and 80s. Those who did not meet his criteria were heavily sedated and did not receive food or antibiotics. A vocal minority refused to implement this protocol because it would be denial of care. The result of this refusal was that the children who did survive after being granted medicine and food, were severely disabled due to the lack of treatment and their spinal closure surgery being delayed. It was because of Dr. Lober's protocol that the patients who survived possibly could be described as having poor quality of life. The condition of these patients only contributed to the negative perspective of the medical profession. Through the establishment of Spina Bifida clinics, children received care from teams of doctors who specialized solely in treating those with Spina Bifida. This produced a whole generation of children who could have independent mobility, social continence, and normal intelligence. The disability rights movement strived to educate the public about Spina Bifida whilst opening up opportunities for independent living and for employment. Because of how quickly this all happened, the medical community was scrambling to catch up. This change in pace meant a majority of physicians were ill-equipped to help parents make an informed decision about their child. Despite all of the changes, a strong pessimism in the medical profession lingered. This included medical doctors, pediatricians, obstetricians, and even maternal medicine specialists. The obstetricians and maternal medicine specialists presented Spina Bifida as the worst case scenario to parents of unborn children and advised having an abortion. In 2003, the National Institutes of Health began the MOMS Study. MOMS stands for "Management of Myelomeningocele Study." There were 3 hospitals chosen to be a part of the study and 183 random, unborn babies were used. Fetal repair was something new but was looking promising. 91 of the babies were selected for the fetal repair surgery, and the remaining 92 were selected for the postnatal repair. The study in its entirety took a total of 8 years. The fetal surgery was performed between the 19th and the 25th week of pregnancy and the postnatal surgery, of course, took place after birth. All 183 babies were delivered at 37 weeks via C-section. The study concluded that babies that had the fetal repair surgery were half as likely to need a ventricular shunt, a Chiari malformation was less common in the group that received the fetal repair, and 2x as many of the fetal repair recipients were independently walking at 30 months. Based on the outcome of this study, in many fetal centers, fetal repair of Spina Bifida is the standard of care. Doctors and researchers continue to make big strides in medical care for those with Spina Bifida. There is a bright future ahead for those born with Spina Bifida.
There are many environmental factors that research has shown contributes to the development of Spina Bifida. Genetics play a big role in Spina Bifida. Some of the Spina Bifida causing suspect genes are MTHFR, MTR, MTRR, and MTHFD1. These are the most likely because they affect how the body processes folic acid. Spina Bifida tends to run in families because of shared genes. Having a family member with Spina Bifida increases your chance of having a child with Spina Bifida. Mothers who take certain types of medication for seizure control, such as Depakote, Depakene, and Tegretol, are more likely to have a child with Spina Bifida. Running a prolonged high fever during the early stages of the pregnancy has been connected to Spina Bifida. Doctors still are not sure whether it is the fever itself or the illness that caused the fever that affects Spina Bifida risk. Sitting in a sauna or hot tub seems to increase the risk of Spina Bifida so it could be the heat itself. Spina Bifida is more common in Hispanics and Caucasians than in African Americans and Asians. Parents who already have one or more children with Spina Bifida are more likely to have another child with Spina Bifida. Mothers with obesity or diabetes might be more likely to have children affected by Spina Bifida. Agent Orange is a chemical that was used to strip the leaves from trees during the Vietnam war. Exposure to Agent Orange in the father has been linked to a higher rate of cancers and birth defects, including Spina Bifida.
People who are ill-informed of Spina Bifida often have misconceptions about it, so I am going to offer some answers to commonly asked questions and shed some light on some myths that are all too often believed. When parents find out their child has Spina Bifida it is a very emotional and confusing time. They have lots of questions and concerns. Too often an unborn baby diagnosed with Spina Bifida is aborted because of misconceptions about Spina Bifida or the child's quality of life. In fact, 64% of unborn babies who have Spina Bifida are aborted. Just in case you don't grasp that, that is over half. About 4,200 unborn babies are diagnosed each year with Spina Bifida, only 1,500 are born. I believe that there would be fewer babies with Spina Bifida aborted annually if parents were more informed. The first question I will address is, "Will the child walk?" It all depends on where the lesion is. The higher the lesion, the less chance they have of being able to walk independently. However, lots of children with even the most severe form of Spina Bifida are able to walk with the help of leg braces and canes or a walker. Another commonly asked question is, "Will the child have 'normal' intelligence?" A majority of children born with Spina Bifida have average or above average intellectual abilities. Spina Bifida is a physical disability, there are lots of children with Spina Bifida who are just as intelligent as their peers.
A scary question to have to ask is, "Will the child live?" The answer is yes as long as the child is given the proper treatment, with no unexpected complications. Spina Bifida babies are sometimes some of the healthiest looking babies in the ICU. The final question I will touch on is one that I myself have been asked on multiple occasions, "Why do people get Spina Bifida?" Scientists still don't know exactly why. Due to lots of research, they have concluded that they think it is a combination of genes and a lack of folic acid before and during the first trimester. Now I will address some myths – Myth 1: "If Spina Bifida does not run in her family, a woman does not have to take folic acid while she is pregnant." Fact 1: Even babies without a family history of Spina Bifida can develop it. Folic acid may reduce the risk of Spina Bifida by up to 70%. Myth 2: "People with Spina Bifida are not as smart as those who do not have it." Fact 2: As I mentioned earlier, Spina Bifida does not affect mental function. Things that could possibly affect mental function are untreated hydrocephalus or a mental disability not brought on by the Spina Bifida. And, lastly, Myth 3: "Most people with Spina Bifida have to use a wheelchair." Fact 3: Many people with Spina Bifida have the mildest form and have no trouble walking on their own. Even those with the most severe form can often walk with the help of braces and canes. Some people with Spina Bifida may have a wheelchair to use for long distances or when they are tired, that does not mean they use their wheelchair all the time.
People with Spina Bifida are just like us, they just may do things a little differently than us sometimes. They still are capable of doing amazing things. There are several well-known people who have a form of Spina Bifida including Hank Williams Sr., John Cougar Mellencamp, Frida Kahlo, and Jean Driscoll. Individuals with Spina Bifida still live wonderful lives in spite of their disabilities. They like to read, cook, watch and play sports, play instruments, sing, and many other things. They are not Spina Bifida. They are our brothers, sisters, aunts, uncles, moms, and dads, and coworkers. They are valued members of society. Here are some things to remember next time you meet someone with Spina Bifida:
Spina Bifida is not a disease. It is not contagious. It is a birth defect. It does not go away, but it is not something they "suffer" from. Spina Bifida is not who that person is, it is a birth defect that they have. Just smile and carry on a conversation just like you would with anyone else. You will soon find out you have a lot more in common than you previously thought.