Spina Bifida Awareness: Symptoms and Diagnosis

**Forgive me that it took so long to post this. At first I had some technology problems. Then I fell and landed on my arm, and couldn’t type, but more about that later.**

 

Unlike most cases of CP, Spina Bifida is usually recognizable at birth. There is almost always an opening in the back where the spine is exposed, or a bulge on the back from protruding spinal contents. There can also be other visible complications, such as club foot and hydrocephalus. Depending on the level of function, babies with Spina Bifida tend to have less movement than other babies, specifically in the lower body, or from the defect down.

Usually the only time Spina Bifida does not show symptoms and diagnosis immediately at birth, is in cases of Spina Bifida Occulta. This form of Spina Bifida is a small separation in the spine, which usually doesn’t cause any physical problems. In fact, 15% of people have it and don’t know it [SpinaBifidaAssociation.com]. It is sometimes accidentally discovered during an X ray done for a separate problem.

There are also ways to diagnose Spina Bifida before birth. There are prenatal tests that show signs of Spina Bifida, however, these tests are not 100% accurate. The AFP Screening tests for high levels of alpha –fetaprotein, which tends to be (but is not always) higher in cases of Spina Bifida. Also, only a small percentage of those who test high for the protein have Spina Bifida. [mayoclinic.com]

Amniocentesis is an optional screening, in which a sample of amniotic fluid is taken. With this test they are also looking for elevated levels of AFP, which will be apparent in cases of Spina Bifida, because the skin that should surround the spine is not there, allowing the AFP to leak into the amniotic fluid. This test presents a small risk of loss of pregnancy. [mayoclinic.com]

Both of these tests can be compared with other procedural blood tests to determine an elevated risk of SB or other defects. [mayoclinic.com]

I would like to restate the fact that a positive result of these tests is not necessarily a diagnosis of SB or another defect. There are other reasons for elevated hormone or protein levels.

An ultrasound can also show signs of Spina Bifida, such as a visible opening in the back, or other tell-tale characteristics.

Today, about 90% of cases of Spina Bifida are diagnosed during pregnancy, with an ultrasound and verifying prenatal tests. Special prenatal care is then given, and the opening in the back is surgically closed within 24 hours of birth. [betterhealth.vic.gov]

But in 1984, the year Kate was born, this was not the case. They didn’t start testing for Spina Bifida until 1985. They only did ultrasounds for emergencies, and even then they were not detailed enough to show signs of Spina Bifida in the spine or brain. That being her mother’s first pregnancy, she didn’t have anything to compare it with to know that the baby didn’t move as much as other fetuses. And doctors didn’t know to ask all of the developmental questions that they ask now. So when Kate was born with an exposed spine, it was an unexpected shock. She had surgery to close the opening two hours after being born.

Kate and I are glad that we were born in an era with so much technology and knowledge that some of our would-be disability issues are solved before they even happen. And some that are not solved are greatly reduced. But sometimes, just sometimes, we wonder what life would be like if we had been born 20 years later. When they knew things like how folic acid affects pregnancy, greatly reducing the risk of Spina Bifida. Or how stem cells from cord blood can aid in healing a young child with CP. The cool thing, if you think about it, is that we were the guinea pigs that helped them make some of the discoveries that work now. We helped make today’s disabled kids’ lives a little easier. I guess God knows what he’s doing.

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Cerebral Palsy Awareness: Symptoms and Diagnosis

Even though my cerebral palsy was most likely developed in the womb, I wasn’t diagnosed until I was two years old. The floppy and hypertonic muscles and movements of babies with cerebral palsy are so similar to that of any other newborn that unless it is a severe case, it isn’t noticed until months down the road, when developmental milestones are missed, or something seems ‘not quite right’. Even then, doctors want to rule out other possibilities before making a diagnosis.

After interviewing my parents, this is what I learned about how they found out I had CP:

I wasn’t crawling until  about 10 months, but when I ‘crawled’ I just pulled myself with my arms and upper body, and my legs dragged behind.

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Since some babies learn to crawl this way, my mom didn’t think much of it. My dad wondered if there was a problem, because the muscles in my legs always seemed tight and contracted, and my feet and toes were always pointed down.

In this pic of me, about a year and a half old, notice how my feet are pointed down. I am unable to rotate my ankle to point my toes voluntarily.

In this pic of me, about a year and a half old, notice how my feet are pointed down. I am unable to rotate my ankle to point my toes voluntarily.

My mom noticed had more trouble with my left side.

As I try to crawl, notice how I am not supporting my left side and well as my right, so I look 'lopsided'.

As I try to crawl, notice how I am not supporting my left side and well as my right, so I look ‘lopsided’.

When I learned to stand I always stood on my toes. When I learned to walk a long time after, I walked on my toes. Since my mom walked on her toes when she was young, she didn’t think much of that either. But when it seemed to be getting worse with time instead of better, they became concerned.

It should be noted that I have a mild case of CP. A lot of babies’ symptoms are much more obvious. Still, unless the baby has a severe case, it probably won’t be noticed until the baby starts trying (or should be trying) to get around on its own.

One of the tell-tale symptoms is a failure to reach developmental milestones, like pushing up, crawling, and walking. Other symptoms can be:

  • Continuing primitive (newborn) reflexes after 6 months of age [americanpregnancy.org]
  • Muscles that are abnormally stiff or floppy
  • Lack of coordination
  • Tremors or involuntary movements
  • Writhing movements
  • Preference and better use of one side of the body
  • Drooling (beyond appropriate age)
  • Trouble with sucking, eating, and swallowing
  • Speech difficulties

[mayoclinic.com]

The symptoms depend on the type of CP, which depends on the part of the brain that was damaged. The severity of the symptoms depends on the extent of brain damage. Most of these symptoms would be difficult to see in a baby, which is why CP is normally not detected until between 1 and 3 years of age.

In my case, a diagnosis was a long, winding road, but here’s the short version:

My mom remembers taking my grandma to her foot doctor when I was a little over a year old. The doctor played with me a little and then continued with the appointment. When my mom put me on the floor to crawl around, the doctor noticed I didn’t crawl quite right. With permission, she picked me up and tugged on my legs a little. She mentioned to my mom that she might want to take me to a doctor. The first doctor thought it was an orthopedic problem and tried correcting it with casts. My family saw that it wasn’t helping, and they contacted Shriners Hospital. The Shriners doctors started by coming to my home to measure my legs and flexibility. Following that, they did cat scans, reflex testing and other tests. They hooked me up to electronic impulse wires; wires that read electronic impulses from my brain and muscles, and analyzed them with a computer. My mom remembers that they hooked me up to these wires and had me walk down a long, black mat. On the computer all you could see was my skeleton walking. Finally, at two and a half years old, they had a diagnosis.

That, of course, was 25 years ago. Today, maybe a diagnosis would come sooner. I could be wrong, but I think doctors now are more aware of CP than they were then. And they might not use all the same methods. My mom doesn’t remember exactly all the tests and scans they did. I don’t know how closely growth milestones were monitored back then, or whether a pediatrician today would recognize the subtle signs of my CP during a routine checkup. I don’t know if they still use the electronic impulse wires, but I would love to see that! I do know that they use MRI’s and CT scans, as well as flexibility and reflex testing to help in making a diagnosis.

Along with my diagnosis of CP, my mom was told that I would never be able to run or jump or ride a bike. But she and my family didn’t just take the doctors’ words regarding my future and my abilities. They let me decide. And they helped me achieve my full potential. So when you or family member or friend receives a diagnosis, and the doctor tells you what to expect, respectfully thank them, and then do everything you can to overcome the odds. Let God decide what you are capable of.

Jump rope was one of my favorite things to do as a kid... despite the doctors saying I would never have the capability.

Jump rope was one of my favorite things to do as a kid… despite the doctors saying I would never have the capability.