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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Spina Bifida Awareness: Causes of SB

Previously, because of what I learned in Biology class, I had thought Spina Bifida to be a genetic birth defect. Through the research for this post, I found out that there is really no single cause of Spina Bifida, but it is thought to be a combination of genetic, environmental, and nutritional factors.

That is a lot like CP in a way, because if you read my CP Awareness posts, you’ll find out that there are many different factors that can cause CP as well.

This took a lot more research on my part than my CP Awareness posts, because since I don’t live with it, I don’t have a lot of first-hand knowledge about it.

So mostly what I have below are pieces of articles that I have quoted from online sources. Read on!

“There is neither a single cause of spina bifida nor any known way to prevent it entirely. However, dietary supplementation with folic acid has been shown to be helpful in reducing the incidence of spina bifida

 “The U.S. Food and Drug Administration, Public Health Agency of Canada and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy. Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication should take a higher dose of 4–5 mg/day.

“Certain mutations in the gene VANGL1 are implicated as a risk factor for spina bifida: These mutations have been linked with spina bifida in some families with a history of spina bifida.”     [Wikipedia]

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Spina Bifida is most common among hispanic women, and there are increased incidences of Spina Bifida in areas with a large amount of farm land. [Source: Kate. She learned this at the Spina Bifida Association National Conferences.]

That spiked my curiosity. Why would it be more common in areas with a lot of farm land? Why would that matter? If anything I would think it would be less common, because I would think that the people in those areas have better diets and get more exercise. Kate’s theory is that it could be higher due to pesticides. And that totally makes sense. But it makes me wonder why they don’t do more research on the subject. If that’s true, it goes beyond just ingesting something that’s ‘bad for you.’ That’s eating chemicals that could cause your children to have debilitating birth defects; in some cases even life threatening. Scary.

So I looked a little further. This is what I found:

“New research shows that babies conceived in the spring and early summer have a higher risk for a wide range of birth defects, including Down syndrome, cleft palate, and spina bifida.

The reported increase in birth defects was modest, but it coincided with a similar spike in groundwater pesticide levels during the spring-early summer planting season.

These findings suggest that pesticide exposure may influence birth outcomes nationwide, researchers say.

“There appears to be a season of conception in which the risk of having a child with a birth defect is higher,” Indiana University School of Medicine neonatology professor Paul D. Winchester, MD, tells WebMD.

“This study does not prove that pesticides cause birth defects, but we set out to show that they did not and we were not reassured.”” [WebMD.com]

Interested in reading what they found? Click here.

Detection during pregnancy:

“Neural tube defects can usually be detected during pregnancy by testing the mother’s blood (AFP screening) or a detailed fetal ultrasound. Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests – an ultrasound of the fetal spine and amniocentesis of the mother’s amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase). AFP tests are now mandated by some state laws.

“Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy, as some neural tube defects are associated with genetic disorders such as trisomy 18.”

“Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. With modern medical care, the quality of life of patients has greatly improved.

[Wikipedia]

That part made me sad, because, personally, as a disabled person, I’m glad that I get the opportunity to live my life. I would rather live, disability or not, than not live my life because it might be more difficult. Also, having been recently pregnant, I know the tests detect the signs and possibility of defects, but only that, a possibility. The child could be just fine.

Prevention:

“If you are pregnant or could get pregnant, use the following tips to help prevent your baby from having spina bifida:

  • Take 400 micrograms (mcg) of folic acid every day. If you already have had a pregnancy affected by spina bifida,  talk with your doctor about a prescription to take 4,000 mcg (4.0 milligrams). Folic acid prevents most, but not all, cases of spina bifida.
  • Talk to your doctor or pharmacist about any prescription and over-the-counter drugs, vitamins, and dietary or herbal supplements you are taking.
  • If you have a medical condition―such as diabetes or obesity―be sure it is under control before you become pregnant.
  • Avoid overheating your body, as might happen if you use a hot tub or sauna.
  • Treat any fever you have right away with Tylenol® (or store brand).”

[CDC.gov]

Do you think pesticides cause SB and other birth defects? If you have SB, do you know the cause? Do you live in an area with a lot of farm land? Weigh in!

Spina Bifida Awareness: What is Spina Bifida?

* I apologize for not doing this in a very timely manner. We have been sick and the baby has been, well, a baby.

“Spina bifida [meaning ‘split spine’] is part of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby’s brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the backbone. Spina bifida occurs in various forms of severity. When treatment for spina bifida is necessary, it’s done through surgery, although such treatment doesn’t always completely resolve the problem.” [MayoClinic.com]

Drawing of a baby born with Spina Bifida. [CDC.gov]

Drawing of a baby born with Spina Bifida.
[CDC.gov]

Spina Bifida is the most common permanently disabling birth defect in the United States.

Each year, about 1,500 babies are born with spina bifida

Can Spina Bifida be detected before birth?
Yes. There are three tests*.

  1. A blood test during the 16th to 18th weeks of pregnancy. This is called the alpha-fetoprotein (AFP screening test). This test is higher in about 75–80 % of women who have a fetus with Spina Bifida.
  2. An ultrasound of the fetus. This is also called a sonogram and can show signs of Spina Bifida such as the open spine.
  1. A test where a small amount of the fluid from the womb is taken through a thin needle. This is called maternal amniocentesis and can be used to look at protein

There are three different types of Spina Bifida – Spina Bifida Occulta, Meningocele, and Myelomeningocele (Meningomyelocele), also called Spina Bifida Cystica.

Spina Bifida Occulta
It is often called “hidden Spina Bifida” because about 15 percent of healthy people have it and do not know it. Spina Bifida Occulta usually does not cause harm, and has no visible signs. The spinal cord and nerves are usually fine. People find out they have it after having an X-ray of their back. It is considered an incidental finding because the X-Ray is normally done for other reasons. However, in a small group of people with SBO, pain and neurological symptoms may occur. Tethered cord can be an insidious complication that requires investigation by a neurosurgeon.

Meningocele
A meningocele causes part of the spinal cord to come through the spine like a sac that is pushed out. Nerve fluid is in the sac, and there is usually no nerve damage. Individuals with this condition may have minor disabilities.

Myelomeningocele (Meningomyelocele), also called Spina Bifida Cystica
his is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains. This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a person’s head grows too big, and may have brain damage. Children who do not have Spina Bifida can also have this problem, so parents need to check with a doctor.

[SpinaBifidaAssociation.org]

Basically, all of that means that in different forms and different severities, the spinal cord does not fuse together and is usually open and exposed when the baby is born. A surgery is done to close the opening immediately after birth.

People with Spina Bifida also have hydrocephalus (water on the brain) due to the inability for spinal fluid to drain properly. Almost always, a shunt is surgically placed to help fluid drain properly.

As the child gets older, these problems translate into physical disability, as well as dyslexia and other kinds of intellectual difficulties.

The severity of the disability of a person with Spina Bifida tends to depend of the location of the defect. The higher the defect is on the spine, the more severe the disability, and the more functions it affects.

[disabled-world.com]

[disabled-world.com]

Physical disability ranges from being fairly unaffected, able to walk and get around without assistance, to needing braces, a walker, and/or a wheelchair. The nerves that are affected can also cause loss of sensation, poor circulation, and many times, incontinence. They can sometimes get blisters and sores on the skin, and almost always have a latex allergy.

Katie is, I think, somewhere in the middle of that spectrum. Though she uses a wheelchair now, like me, she didn’t always. She used to get around well with the assistance of a walker, and she has always worn braces. She started using a wheelchair around when she started high school, when walking more than a few meters became very painful to her knees, hips, and back.

I asked Kate to share some of her own knowledge and experiences of Spina Bifida. It was much more personal and helpful than anything I was able to find on a website.

This is what she shared 🙂 :

  • My SB is as between the L4 and L5 region of my spine (basically right above the base of the spine)
  • I have Myelomeningocele
  • Started using a chair regularly in 9th grade. Before that it was only for anywhere that would have meant a lot of walking (vacations, museums, zoo, mall, etc).
  • Everyone with SB has hydrocephalus
  • Most people with SB need a shunt implanted to drain the excess spinal fluid from the brain (hydrocephalus) (I thankfully did not)
  • Many will have multiple shunt revisions for malfunction shunts
  • Most use braces, crutches, or a chair
  • No one knows the cause of SB for sure but it is thought to be a combo of environmental and genetic. Lots of research is and has been done on the genetic side. Tends to happen more often in areas with a lot of farm land.
  • Nobody knew I had SB until I was born. My mom had no idea I didn’t move as much as I was supposed to. Because it was her first pregnancy and she had nothing to compare it to. Now they test for it.
  • Had my first surgery to close my back soon after birth
  • My parents were told I probably wouldn’t ever walk. I’ve apparently always like to prove people wrong. Tell me I can’t do something and I will do everything in my power to prove you wrong.
  • Depression and anxiety are very common in Spina Bifida
  • Bowel and bladder incontinence
  • Unemployment rate is in the 70% range
  • Starting at about 12 or 13 I started having pain especially in my knees and back. It continued to progress from there until I had constant back pain as well as frequent knee and hip pain.
  • Using my chair has also caused frequent wrist elbow and shoulder pain
  • My muscles especially the ones in my legs started twitching around the same time and I didn’t find out until I was 28 that that it was caused by tethered cord which should have been discovered when I was in my early teens but wasn’t. At this point the risks of the surgery to untether me out way the benefits so I just have to live with it.
  • I had lots of physical therapy when I was little. Of course at that age PT is playing games and having fun. Took ballet and tap dance too.

Individuals with spina bifida often have trouble processing information (for example, understanding and remembering instructions). Information processing is a key skill in academic areas such as mathematics, science, reading comprehension, and writing. The difficulty is not limited to schoolwork, however, but also applies to processing day to day information from parents, siblings, and school classmates. Individuals living with spina bifida and their parents have reported problems in several areas, such as completing assignments in a timely manner, finding and getting to the classroom in the time allotted, remembering to take medication, and performing required treatments (e.g., catheterizations) at the prescribed time. In addition, some experience difficulty in making meaningful contact/friendships with peers, which may result in social isolation. Parents of children with spina bifida also report difficulty promoting independence and self care. They may find it necessary to repeat seemingly straight forward directions over and over.They are accused of being lazy, rude or uncooperative. [mydoctor.kaiserpermanente.org]

  • Many people have learning disabilities. Specifically Nonverbal Learning Disorder. It is a big part of having Spina Bifida.
  • School was incredibly difficult for me. I started falling behind in math in about 3rd grade. Math still makes no sense to me even simple addition and subtraction takes me longer to do then most people.
  • Big projects were hard because they require you to break them down into smaller parts and I never figured out how to do that. I always ended up scrambling at the last second to finish.
  • Taking a test is nearly impossible. I may know the material, but trying to translate that into answering questions or writing an essay doesn’t work
  • I have a very hard time summarizing things I’ve read but I love to read.
  • I’ve been called lazy when many times I just forgot that I was asked to do something. Or couldn’t remember/didn’t know how to do something.
  • I’ve had many situations where I was asked to do a list of things and only manage to remember one maybe two of the things I was supposed to do, and have to ask what else I was supposed to do. Or I spend so much time doing the first thing that there’s no time left for the rest.

Talking to Kate and reading her answers, I found out so many things I had not known before, even through spending every day with her for years.

I started to recognize some things about myself, that I had previously dismissed, or just believed when people (mainly teachers and fellow students) said I was lazy or just not trying hard enough.  Be careful, especially teachers, how you handle a child that doesn’t ‘fit in the mold’. Teachers can be a child’s greatest empowerers or their most destructive bulldozers.

I started to get angry and frustrated, specifically about our school system, and how if you can’t cut it the way they lay it out, with reading and writing and math tests, you’re almost doomed for failure. Even though there is a wealth of other knowledge and talent that these children and people have to offer. Or just more effective ways of displaying what they have learned.

That is where we have failed as a society.

Do I know how to fix it? No, I don’t. But it needs to be fixed. One person can’t change it. 100 people can’t change it. It needs to start as a change in our hearts and mindsets.

Spina Bifida Awareness: My Best Friend Kate

In 10th grade, just after turning 15; and after finally settling in, getting used to, and even starting to like California, my dad’s job moved us to Minnesota. Again, I would leave what friends I had finally made, and be the new, awkward handicap kid that didn’t know anyone.

I survived the second term, just getting my work done and spending my extra time in my room with my CD player. Third term started, and it included World History with Mr. Laliberte. He was a goofy, hockey loving, first year teacher, who was not much older than we were.

That’s where I met Katie. She sat in a desk at the front of the class, and used a wheelchair, but I didn’t know why. Tired of not having any local friend, and honestly, tired of being shunned by snobs because I walked differently, I decided to just do it. Just talk to her. I figured we at least had one thing in common, and if she didn’t seem friendly, she would just be one more person on the long list.

So one day walking back to Mr. Laliberte’s class from the cafeteria, I did it. I introduced myself, and I asked if she had cerebral palsy. I knew she didn’t, because she moved differently than I did, but I didn’t want to just say “What do you have” or “What’s wrong with you”. She said she had Spina Bifida. I think that was the extent of our conversation that day, and I don’t really remember what happened between then and the day that we went to see Monsters Inc. with a group of new friends from Laliberte’s class, and her (now our) friend Katrina, but by that summer we were pretty much inseparable.

I am lucky enough to have two best friends. Kelly and I have known each other since I was 9, and we have kept in touch and are still best friends despite everything life has thrown at us. But there are aspects of my life that nobody can quite understand as well as Katie does. And there is so much power and comfort in having someone that understands. Not just someone that believes you or even believes in you, but someone who understands. Because they’ve been there. Because they are there.

So, in honor of Katie (aka Kate), I will be doing a Spina Bifida Awareness series for October; Spina Bifida Awareness month. Due to family issues, a packed schedule, and me not realizing it was October until a month in, I am getting a much later start than I wanted to. But I am starting off with Kate’s answers to the Invisible Illness survey.

Read on and stay tuned!

 

30 Things About My Invisible Illness You May Not Know

1. The illness I live with is: Spina Bifida

2. I was diagnosed with it in the year: 1984. As soon as I was born.

3. But I had symptoms since: In the womb but nobody realized it.

4. The biggest adjustment I’ve had to make is: Accepting my limitations

5. Most people assume: That I’m exaggerating

6. The hardest part about mornings is: Walking

7. My favourite medical TV show is: House!

8. A gadget I couldn’t live without is: My phone

9. The hardest part about nights are: Everything hurts

10. Each day I take at least 0 pills & vitamins: I refuse to rely on meds at this point though I could definitely use them. I know I’ll hit a point where I won’t have a choice but I want to postpone the inevitable for as long as possible.

11. Regarding alternative treatments I: Haven’t really tried anything.

12. If I had to choose between an invisible illness or visible I would choose: Visible

13. Regarding working and career: I miss working but it’s difficult when I can’t work more than 5hrs a day and only if I only work a few days a week.

14. People would be surprised to know: Sometimes I actually like being disabled.

15. The hardest thing to accept about reality has been: That it’s not going to change

16. Something I never thought I could do with my illness that I did was: Travel by myself

17. The commercials about my illness: There aren’t any really.

18. Something I really miss doing since my disability has progressed is: Running around. I used to love playing baseball and tag and just running around outside.

19. It is really hard to go without: My wheelchair

21. If I could have one day of feeling normal again I would: Go for a run or a bike ride. Go shopping. Maybe go to the zoo. Any place I don’t go by myself now because I’m afraid I won’t be able to get around.

22. My illness has taught me: You can never truly know, or judge, what another person is going through. Stole this but I couldn’t have said it better myself.

23. Want to know a secret? One thing people say that gets under my skin is: I can’t believe you can (fill in the blank). Drives me crazy when people assume I can’t do something.

24. But I love it when people: Take the time to get to know me.

25. My favourite motto, scripture, quote that gets me through tough times is:

26. When someone is diagnosed I’d like to tell them: Don’t listen to other people. Only you know what you can and can’t do and what you do and don’t want.

27. Something that has surprised me about living with an illness is: How much harder everything is to do.

28. The nicest thing someone did for me when I wasn’t feeling well was: Lots of things.

29. I’m going to get involved with Invisible Illness Week next year because: It’s important for people to pay attention to what other people are going through even if they can’t see it.

30. The fact that you read this list makes me feel: Like you care

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