John James: Still Smiling

After a normal birth and delivery, JJ developed normally until 9 months of age when he began having a slight tremor in his hands. By age one, the tremors had spread to his arms, legs, head, and even his tongue. His parents, John and Nancy, described him as "a little boy who shook, and looked like he had Parkinson’s disease." JJ began to lose all of his skills, including the ability to sit, walk, and even speak. Cognitively he seemed unaffected, however. Though he was examined by many neurologists and his case was presented at conferences around the world, JJ’s condition baffled the doctors.

When JJ was 6 years old, he had extremely low tone and no spontaneous movement. He developed a severe movement disorder known as bilateral ballismus (severe violent movements of his extremities on both sides when he became excited). The movements were so severe that he developed fever, weight loss, and fractured his femur twice. Dr. Darryl De Vivo, director of Pediatric Neurology, at Columbia Presbyterian Medical Center in New York, evaluated JJ. Dr. De Vivo performed a spinal tap for neurotransmitter metabolites, which was sent to Keith Hyland in Texas.

After seven years, JJ was finally diagnosed with a dopamine re-uptake disorder. JJ was started on tetrabenazine, which has greatly controlled his movements and has improved his quality of life. He is a handsome young man of 11 with a fabulous smile and a wicked sense of humor. He still has no voluntary movement, extremely low tone, and cannot speak. He is cognitively aware and uses various devices to communicate. JJ’s parents are the founders of the PND Association.