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Tuesday: Health

Urology Pearls: The imperfect miracle

By SHAHAR MADJAR 4 min read
MADJAR

Professor Dumms opened her lecture quoting from an ancient Jewish prayer recorded in the Babylonian Talmud: "Blessed are You, our Lord, King of the universe, who created man with wisdom and created within him openings and hollow tubes ... that if even one of them were to rupture, or if even one of them were to permanently open or inadvertently close, it would be impossible to survive and stand before You even for a short while. Blessed are You, Lord, who heals all flesh and acts with wonder."

From her previous lectures, we had learned that each presentation would bring a curiosity--a woman who produced milk from her armpit, a man whose testicle failed to reach its destination in the scrotum, an ovary that grew hair and teeth. We remembered her telling us: "I'm a pathology professor. I'm not healing the living, I learn from the dead. I study the errors of nature. From the congenital to the debilitating, to the detrimental. I ask myself, what went wrong? How does our biology betray us? I want to study the abnormal, the pathological, the disfiguring, and the deadly."

So, sitting in her lecture hall that day, we were wondering: What would come next?

I was reminded of Dr. Dumms's lesson about a year ago, when I saw Elizabeth, a 20-year-old psychology student who came to me with a long history of bladder dysfunction and bladder infections. She also had problems with bowel movements and had to use braces to walk. She was accompanied by her mother, who told me Elizabeth had been diagnosed at birth with spina bifida and myelomeningocele--a birth defect in which the spine fails to close properly during early pregnancy, allowing a sac containing spinal fluid and portions of the spinal cord and nerves to protrude through an opening in the back.

"The doctors took Elizabeth to the OR. It was an emergency, and they closed the defect, but the damage to the nerves couldn't be reversed," her mom said.

I imagined the scene: parents excited about the birth of their baby, then devastated to learn of the challenges their daughter would face.

Seeing Elizabeth and her mom in the exam room brought me back to the classroom with Professor Dumms.

"What we are witnessing, with each birth, with the development of each and every living being, is nothing short of a miracle," she said.

"An egg cell meets with a single sperm cell. And the biological magic starts. Cell division and rapid multiplication. Each cell, despite carrying essentially the same DNA as its neighbors, begins a process of differentiation--each will end up different from its neighbors: a retinal cell in the eye, different from a myocyte in the heart, and entirely different from a nerve cell in the brain or spine. Each carries a unique form and function.

"But wait," Professor Dumms said, "there is more. Then comes the stretching and folding. From a fertilized cell to a flat sheet of multiple cells, to a three-dimensional biological origami--the human embryo folds itself, hitches at the corners, pinches into closed tubes, and blossoms into a complex 3D shape."

Nowhere in the body does this process declare itself more dramatically than when a flat sheet of cells folds inward, its edges rising, approaching one another, and finally joining to form the neural tube--the structure from which the brain and spinal cord will develop.

For Elizabeth, that exact process didn't materialize. The neural tube failed to close completely. The nerves of the spinal cord were exposed through an opening that wasn't suppose to be there. And surgery, although successful in closing the defect, couldn't reverse the damage to the nerves.

Bladder and bowel dysfunction. Difficulty walking. These were challenges she would likely face for the rest of her life.

I advised Elizabeth to empty her bladder using a clean catheter four times a day. Regular emptying would help protect her bladder and kidneys and might reduce her recurrent infections.

There was something calm about her, accepting. I sensed no anger, only what seemed to me a deep understanding and peace.

As for myself, cases like Elizabeth's remind me of the extraordinary complexity and fragility of human development--a single structure that fails to open or close properly can have profound consequences. And yet, considering the countless opportunities for things to go wrong, isn't it remarkable how often they go right?

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