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A clear case of suspected child abuse turns out to be something else

Roy A. Meals, MD
Physician
March 31, 2018
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The emergency room staff was immediately suspicious. His father said that Peter, just over six months old, was pulling himself up to a standing position by grasping his pant leg. Peter fell back, screaming. The extreme distress, entirely unusual for Peter, continued until some Tylenol helped him fall asleep. The next morning Peter was screaming again, and his mother took him to the emergency room.

X-rays showed a fractured leg. The parents were accused of child abuse, and Child Protection Services (CPS) was summoned, which is the law. The father, a self-described “raging alcoholic” at the time, was the prime suspect. A thorough investigation by CPS, including a home visit, ensued, and although the parents were allowed to maintain custody of Peter, they were told that if CPS heard even a whisper of further trouble, they would remove Peter from their home.

Convinced of their innocence yet confused, afraid and angry, Peter’s parents devised a plan. If CPS or the police knocked on their door, Peter’s father would create a diversion, allow himself to be arrested if necessary, while a friend would whisk Peter out the back door and take him to a relative’s house, the whereabouts of which was unknown to the authorities.

Fast forward six months. Peter and his mother were visiting relatives in a distant city, a continent away from his father. After a trivial fall, Peter broke his other leg. The emergency room staff made the same stir. Child abuse seemed to be the correct diagnosis even though Peter was clean and neatly dressed, and his mother was appropriately attentive, neither hovering nor disengaged. She had brought him in right away, and also Peter’s skin was free of any aging bruises or burn marks. The staff was still suspicious even though Peter did not show any of the classical findings of child abuse. These include signs of neglect, inappropriate degree of concern and unexplained skin injuries. A saying in medicine goes, “You are more likely to see unusual presentations of common disorders than you are of seeing common presentations of unusual ones.” In other words, “When you hear hoofbeats, think horses, not zebras.”

This was certainly Peter’s case, apparent child abuse until one bright mind considered a zebra–brittle bone disease. It is so rare that most orthopedic surgeons and pediatricians never see a case. It arises as a genetic mutation that results in either inadequate or faulty production of collagen, the fibrous meshwork of bone on which calcium crystals are deposited. Without the proper framework, the bones behave more like sticks of chalk, which can snap in half with only minimal force. Brittle bone disease comes in several forms, the most severe type results in multiple fractures to skull, ribs, and limbs during delivery and is therefore lethal. Peter has a less severe form of the disease, yet his bones are far from normal, and unfortunately, there is no cure.

Peter, now 33 years old, estimates that he has had more than 400 fractures including all four limbs, ribs, and spine, sometimes one break at a time, sometimes several simultaneously. He remembers telling his father one day that he hurt in nine places. His dad expressed sorrow for Peter having nine fractures at one time. Peter corrected him. “At the moment I only have five fractures, the other four places just hurt.” Peter recalls attending the Boy Scout Jamboree with both legs and one arm in casts. He laughs and says that then it started raining.

After the diagnosis was clear, Peter’s parents made two decisions. First, they carried a doctor’s statement with them indicating that their son had brittle bone disease. This would help defuse suspicion at the hospital. The other decision was monumental. The first parental instinct would be to totally protect such a fragile child and shelter him in a lifelong cocoon. Peter’s parents decided otherwise. They wanted to prepare their son for success and to provide him opportunities and skills to become independent and successful within his limitations. So, for instance, and on Peter’s insistence, his father and he rode a roller coaster together. Peter broke his thigh bone, enduring the same “white hot fire” type of pain that he experienced with all his other fractures.

While growing up, each fracture and the ensuing cast gave Peter weeks to reflect on the risk-benefit ratio of doing that particular activity again. One leg fracture resulted from Peter doing wheelies in his manual wheelchair. Another came from a young lady’s kick after Peter had “smart assed” her. Sometimes, however, the fractures are unavoidable. For instance, once he sneezed while putting on a sweater and snapped.

There could have been even more fractures except that Peter has had at least 50 operations to straighten and strengthen his bones. By the time he was three, stiff stainless-steel rods were inserted into the central hollows of his long bones, which strengthened them. While he was growing, the rods had to be replaced from time to time with longer ones. Bent ones also required replacement.

The parents’ philosophy worked. Peter earned an undergraduate degree from Berkeley in political science and disability studies and then obtained an MBA degree. He is married and is presently in charge of the Center for Independent Living of South Florida. Peter says he breaks fewer bones these days, not because they are any stronger, but because he finally found an activity level that works for him. Most recently, he broke his thigh bone when his power wheelchair did not quite clear a doorway.

Most of us even rarely give our bones a second thought. They are out of sight, painless, straight, solid, dependable. Peter’s experiences teach us that this is not always the case. Yet, with the proper approach, even brittle bones can serve their primary purpose — supporting life.

I was extremely fortunate to be able to communicate with Peter and his father by telephone and email. They have seen this essay and have agreed to share their story.

Roy A. Meals is an orthopedic surgeon who blogs at About Bone. 

Image credit: Shutterstock.com

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