What is Spina Bifida?
Spina Bifida literally means ‘split spine’ or ‘open spine.’ This occurs when the spinal cord and vertebrae do not form properly during the first 4 weeks of pregnancy. The spinal cord and meninges will protrude from the body through an opening in the back. This is called myelomeningocele, the most severe form of Spina Bifida. Because of the opening in the spine and the exposed nerves, the spinal cord becomes damaged causing loss of function in some areas of the body below the defect location. About 1 in 1,000 babies born in the United States has this type of spina bifida. This is the type of Spina Bifida that Katelyn has.
Because of the abnormal development of and damage to the spinal cord, a child with myelomeningocele typically has some paralysis and loss of sensation in the hips and legs. The higher the opening is on the back, the more severe the paralysis tends to be.
Katelyn was born with an opening in her lower back, just above her tailbone. She cannot move her legs, but can move her feet and ankles slightly. We cannot tell yet where she has feeling in her skin.
Like many other kids with myelomeningocele, Katelyn also has hydrocephalus. This usually happens shortly after the back closure surgery. During pregnancy the excess cerebral spinal fluid (CSF) drains out through the opening in the back. Once the opening is surgically closed, the fluid tends to collect in the brain ventricles, causing the head to swell. Katelyn had a VP shunt placed at 1 week old to drain excess fluid from her brain ventricles into her abdomen to be reabsorbed into her body. The shunt is a small, flexible tube with a valve in the back of the skull. The tube is inserted into the brain ventricle and runs under the skin all the way to the abdomen. There is enough tubing placed to allow for the baby to grow to a full-size adult. A common complication is for the shunt to malfunction by getting clogged or coming apart. This requires additional surgery to replace the shunt.
Most kids with spina bifida have some problems with their bowels and bladder. The nerves that send and receive messages from the brain are affected, so kids either don’t know when they need to go to the bathroom, or the bladder cannot relax/contract as needed. Many kids need catheterized several times a day to drain excess urine from the bladder to prevent urinary tract infection and reflux into the kidneys. Some kids cannot pee at all and must be cathed every three hours to empty their bladder. Many children can learn to cath themselves by the time they go to Kindergarten. Katelyn has good bladder function at this point. She can pee on her own and only needs to be cathed once each day. The bowel function generally requires a rigid bowel regimen to maintain healthy bowels and achieve social continence.
How is Spina Bifida diagnosed?
Expectant parents generally find out that their baby has Spina Bifida at the 18-20 week ultrasound because the doctor either sees the Chiari Malformation or the sac protruding through the spine.
The AFP(alpha-fetaprotein) test measures how much AFP, which the fetus produces, has passed in the mother’s bloodstream. If the amount is high, this can confirm the Spina Bifida condition. This test is used to detect the presence of multiple conditions, so a positive AFP result is usually used to confirm what had already been identified by ultrasound.
Katelyn was diagnosed during the 18 week ultrasound. The perinatologist could see the chiari malformation (shifting of the brain) in the ultrasound, but he could not see the opening in her lower back. The Spina Bifida was confirmed with the AFP test and subsequent ultrasounds. Yes, that was a very difficult day for us… we did a lot of research to learn as much as possible what this meant for our baby girl. But to really understand, we just had to ‘wait and see’. Waiting for her to get here was the hardest part, and all of her milestones will be ‘wait and see.’ That just makes everything she does so exciting and such a joy!
What types of doctors does someone with Spina Bifida need?
From the moment Katelyn was born, doctors have been necessary and life-saving for her. When she was just 1 day old, she had her first surgery. Her neurosurgeon gently pushed her spinal cord back inside her body through the opening on her back, and then closed the opening to prevent infection and protect the spine.
When she was 1 week old, the Neurosurgeon put in a shunt, a device that drains the extra fluid in the brain. Since then, Katelyn has had several procedures – MRIs and ultrasounds to check her shunt, chiari malformation, and shunt ; 3 hernia repairs; a GJ (gastro-jejunum) feeding tube placed. Katelyn cannot drink formula from a bottle because she has GERD (gastroesophogeal reflux disease). She spits up and aspirates the formula into her lungs, which caused her lungs to not work well. This is why she was so sick and not breathing well for a few months, until this was figured out.
In addition, a kid with spina bifida might need surgery on the feet, hips, or spine. Katelyn had to have her feet casted to correct the Club Feet, which is when the feet turn inward. She also has bi-lateral hip dysplasia which means both of her hips are dislocated. The orthopedic surgeon will wait until we can determine if she will walk or use a wheelchair before making the decision on whether to operate to put them back in the sockets.
Arnold Chiari Malformation is another common complication for those with Spina Bifida. Chiari Malformation is when the brain is shifted back in the skull. The cerebellum and brain stem get ‘crammed’ in the base of the skull and may not completely develop due to the lack of space. Katelyn has a very small cerebellum and a very small brain stem. The hole in the base of the skull that the brain stem passes through (posterior fossa), is also very small which can put pressure on the brain stem. Chiari Malfomation does not always cause problems, but if it does then a chiari decompression may be necessary. This is when the neurosurgeon removes material at the base of the skull to make room for or “decompress” the brain. This surgery is a big deal and is usually done as a last resort after all other studies have determined that the chiari malformation is causing the symptoms. Doctors generally will not do this procedure on very young babies, except in the case of severe symptomatic chiari. This is because the removed material can quickly grow back in young children. Katelyn’s chiari malformation is being studied by her neurosurgeon, due to her breathing and apnea issues. But everything else will be ruled out first before we even begin talking about chiari decompression. She still has a sleep study, MRI, and spine study over the next few months to hopefully get some answers on these issues.
The frequency and types of procedures or surgeries needed for each kid are different, but they certainly go through a lot and these kids are as tough as they come! …. and very sweet, I might add.
Kids like Katelyn also need checkups a couple of times a year and generally see a full team of medical experts. Most children go to the Myelomeningocele clinic (Myelo Clinic) to see the whole team of medical professionals in the same day. This team may include pediatricians, Orthopedic Surgeons, Neurosurgeons, ENT doctors, Pulmonologists, Urologists, Physical Medicine (for mobility equipment), physical therapists, and occupational therapists. The goal is to help every child and adult to be as healthy and as independent as possible.
The information contained here is based what we’ve learned from reading about Spina Bifida, learned from Katelyn’s doctors, and personal experiences since Katelyn’s diagnosis. A great resource to learn a ton more about Spina Bifida is the Spina Bifida Association. This has been a fantastic resource for us over the last year as we learn as much as possible about our new normal and what we can expect for Katelyn in the years to come.