Her Foot Looked Normal. What Was Causing the Excruciating Pain?

Health & Wellbeing

She had sprained that ankle several times over the past couple of years. Her doctors blamed weak ligaments and a sports-heavy schedule. They were an active family and recognized that injuries were just part of sports. But this was different. It seemed as if her ankle never got better after that last injury. Over the next few months, she saw a couple of orthopedists at the Hospital for Special Surgery. One ordered an M.R.I. of the ankle. That study was its own kind of nightmare. Holding her foot in the correct position was painful, the girl told them. And holding it still was practically impossible. Her foot had developed a tendency to roll to the side so that the arch and sole faced inward rather than down. And her toes were constantly in motion.

The M.R.I. was unremarkable. Physical therapy helped the stiffness but didn’t straighten out her foot. A cortisone shot did nothing. Same with an ankle brace. How could all this grow out of a sprain, the parents asked each other. A rheumatologist was certain that this was juvenile rheumatoid arthritis. The blood tests said otherwise. As spring arrived, the young girl started using crutches to get around. Any weight-bearing was excruciating.

Finally one evening, out of a sense of desperation, the father reached out to a high school friend, Joshua Hyman, who was now a pediatric orthopedic surgeon at NewYork-Presbyterian Morgan Stanley Children’s Hospital. He described his daughter’s pain and the strange stiffness that seemed to keep her foot on its side. There was a thoughtful silence on the phone, and then Hyman asked his friend if he was able to move his daughter’s foot — able to put it in a more normal position? He could, the father answered, but it felt as if the foot were fighting him. And as soon as the pressure was released, it would slowly turn back to its side. That’s how it felt best, his daughter told him.

There was another pause. “Has anyone mentioned something called dystonia to you?” Hyman asked.

Dystonia is a movement disorder characterized by persistent or intermittent muscle contractions, which cause abnormal, often repetitive movements or positions, Hyman explained. It can affect any part of the body, and in some cases the entire body. It’s a problem with the brain and the nerves. They send the wrong message to the muscles. There are lots of possible causes, Hyman added: medications, infections, brain injuries, a handful of inherited diseases. Dystonia? the father asked. He wasn’t sure he’d ever heard the word. How did she get this? Why did she get this? Is there a treatment? Hyman was sympathetic but couldn’t answer his friend’s many questions. For that they needed a neurologist — probably one specializing in movement disorders.

It was late spring when the family got in to see Dr. Steven Frucht, director of the Fresco Institute for Parkinson’s and Movement Disorders at N.Y.U. Langone Health. As soon as he entered the exam room, Frucht noticed that the girl’s feet were asymmetric. She was sitting on a chair that was too tall for her feet to reach the floor, so they just hung down, at rest. The right foot was straight, as expected. The left pointed inward, toward the right, at a very unnatural angle. Frucht introduced himself and listened as the girl and her parents described her months of ankle pain.

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