Question of the Month: I am 65 years old and have just been informed by my "new" doctor that I have Spina Bifida. It was detected through blood tests ordered by this doctor. This news today was rather alarming that I would have had it since birth. I have had no indication or obvious signs over the years to indicate I had Spina Bifida. At my age, what should I be more informed or careful when I do things? Will it affect me to a greater degree later in life? Any information, pertaining to the discovery of this birth defect later in life, would be appreciated.

The diagnosis of Spina Bifida is almost always by X-ray and/or surgical findings. The term Spina Bifida (open spine) means that the spine did not form correctly and there is an opening in the vertebrae. Because of this opening the spinal cord is not completely surrounded by a bony encasement and sometimes there is also disruption of the normal spinal cord development. All of this occurs very early in pregnancy and does not develop after birth. There is a blood test used in pregnant women to help screen for a developing fetus who may have spina bifida. The test, called alpha-fetoprotein is abnormally high in the mother’s blood stream. This would lead her obstetricians to do follow-up tests – radiographic tests – to look for spina bifida in the baby.

After birth, Spina Bifida is evaluated most often by spinal X-ray and or MRI. Blood tests do not help in the diagnosis.

For an adult, an abnormal alpha-fetoprotein test result means something completely different and I would recommend follow-up tests looking into liver problems or other adult-onset conditions. There is more information on alpha-fetoprotein at MedlinePlus from the U.S. national Library of Medicine and the National Institutes of Health.

http://www.nlm.nih.gov/medlineplus/ency/article/003573.htm

As for the second part of your question, what should I do if I get diagnosed with Spina Bifida at age 65 – you can rest easy. A diagnosis at this age – usually during a back X-ray for another reason – is an incidental finding. This means there is no health concern. Most people diagnosed with spina bifida at age 65 would be classified as having Spina Sifida occulta (literally - hidden open spine). This finding is the non-fusion/closing of the vertebrae mentioned above and is almost never associated with any neurologic problems. Approximately 10% (or more by some estimates) of the adult population has Spina Bifida occulta and never know about it. Again, this X-ray finding in adults is not associated with an abnormal alpha-fetoprotein. You should look for other causes of a high alpha-fetoprotein.