Spina bifida, meaning, “split spine,” is one of the most common birth defects. It is present in about 1 in every 1000 births. This birth defect is part of a group called neural tube defects. The neural tube is a hollow structure where the brain and spinal cord form. This happens at the end of the first month of pregnancy when the spinal cord is developing. As a result, the spinal cord and nerves become damaged. This defect causes an opening in the back that can be visible or hidden under the skin.
There are 3 main types of Spina Bifida. One is spina bifida occulta. This is the mildest type, often referred to as “hidden” spina bifida. This type is not commonly found until adulthood. In this form, there is a tiny gap in the spine but no opening in the sac or on the back. The nerves are normal and cause no disabilities. Meningocele is another type, but rare. In this type the sac of …show more content…
fluid still comes through the opening in the babies’ back but the spinal cord is not in the sac. There is usually little or no nerve damage and causes minor disabilities. Myelomeningocele is the most severe and common one. With this condition a sac of fluid comes through an opening in the babies’ back. Part of the spinal cord and nerves in the sac become damaged. This type of spina bifida causes moderate to severe symptoms. For example, loss of feeling in the legs or feet, not being able to move the legs, bowel and bladder problems, and seizures.
The symptoms for spina bifida fall into general categories.
First is the mobility symptoms. The brain controls the muscles in the body with nerves that run through the spinal cord; therefore, any damage to the nerves can result in problems controlling the muscles. Accordingly, most children with spina bifida will experience paralysis in their lower limbs. If they experience weakness they may need to use crutches or other support. The muscles in the legs are not used regularly and for this reason they will become severely weakened overtime. This weakness can affect bone development and result in deformed joints, bone fractures, and abnormal curves of the spine. Not only do the nerves control your limbs but they also control your bowel and bladder. They help control the muscles and keep the urine in the bladder. The bladder muscles can be tight or itchy and store little urine. Bowel problems could consist of constipation followed by diarrhea. Normally, this disorder happens during the first month of pregnancy meaning the typical age of onset is when you are still in the
womb.
Scientists suspect that one of the multiple causes of spina bifida is genetic. It is not dominant nor recessive but it falls under a category called multifactorial inheritance where something goes wrong in the fetal development. For example, the brain and spinal cord do not close completely. These traits occur from maternal, environmental, and genetic influences. Most common birth defects fall under this category. In some cases you can do predictive genetic testing to know beforehand if your child will have any multifactorial traits.
Spina bifida is not chromosomal defect but instead it’s a neural defect created by the lack of folic acid in the mothers system. Spina bifida does though rely on the MTHRF gene to form properly and when the gene is not formed correctly there is an increased risk of spina bifida. The MTHFR gene contains the DNA code to produce the MTHFR enzyme. When the MTHFR enzyme is not present, neural tube defects like spina bifida are produced.
If one of your parents has spina bifida there’s a higher chance your kid may get it. The chance of spina bifida to happen to your second child depends on how close the family member with the trait is related to you. If your parents or siblings have the trait you have a 50 percent change to get it compared to if your first cousin has it you’ll have a lesser chance at 12.5 percent.
There is genetic testing available for spina bifida. When you become pregnant you have the option to do prenatal screening to test for spina bifida or other birth defects. You can take blood tests, ultrasounds, and an Amniocentesis.
Spina bifida not only affects the person diagnosed but it also affects the whole family. However, depending on how severe the condition, people with spina bifida live a rather normal lifestyle. At the infant and toddler age, the parent support is very important. Babies’ at the most severe levels could have braces, crutches, or even in a wheelchair. Other babies could be walking or crawling at the normal age and have nothing physically wrong. Safety is an important issue with children living among spina bifida because they are at a higher rate for injuries. Most teens with spina bifida will be able to dress themselves and bathe themselves. When it comes to the sexual health of people affected with spina bifida it should not affect much. Most people are fertile and able to have children. The biggest concern for woman with this disorder is to take folic acid before and during the pregnancy. Having enough folic acid in their system can help prevent passing spina bifida onto their children.
Fortunately, there is number of treatments available to help manage spina bifida. In some cases if you have been diagnosed before birth the baby can undergo surgery still in the womb. There is also many treatments after birth, many including surgeries. Children with spina bifida occulta usually do not need treatment. Children affected by spina bifida meningocele and myelomeningocele typically cannot go on without surgery on the spinal cord after more than 48 hours after birth. A very common surgery people with spina bifida encounter is shunting. Shunting is a procedure that drains excess fluid from the brain into the abdomen. Treatment does not end at surgery; you should continue to see a team of physicians and therapists. The life expectancy of people with spina bifida is no different from normal people. The prognosis of spina bifida depends on how severely you have it and the severity of the abnormalities but normally people with spina bifida live a normal life. There is ongoing research to identify and diminish neutral tube defects.