Sam is seven years old. He enjoys Legos, video games, Cub Scouts and playing baseball with the South Metro Miracle League. In short, he is all boy with one speed: fast! When he was three, he began to limp and take to the couch with headaches. That’s when I knew something was up. Before we could follow up with our family doctor, Sam broke his right tibia. We ended up at a local orthopedic clinic where we found out it was a cyst in his bone that broke. When Sam did not heal well and continued to limp, our family doctor referred us to Gillette Children’s Specialty Healthcare, Center for Pediatric Orthopedics.
At our first appointment at Gillette, an x-ray of Sam standing showed many more cysts, or lesions in Sam’s legs. We were referred to other specialties within Gillette and had a lot of testing done. I appreciated how all the different doctors and therapists can all consult with each other for fantastic continuity of care. All the testing showed that Sam has a Chiari 1 Malformation which was causing the headaches and a fibrous dysplastic condition of bone, resulting in the formation of lesions from his head to his feet.
The Chiari happens when the lower portion of the brain, called the Cerebellum, slips into the spinal canal blocking the flow of cerebral spinal fluid and compressing many structures in the brain. Sam’s headaches began to escalate and when he was five, he had surgery to increase the space in his skull for the Cerebellum. His headaches are much better now. The bone lesions however are more problematic. Sam has broken his femurs three times because of them and has had 8 surgeries so far. Dr. Michael Healy is Sam’s favorite doctor. He has done so much to help us find out what is going on. Immediately, Dr. Healy was taking Sam’s case to other doctors at the University of Minnesota. After a couple years, I brought to Dr. Healy the name of a doctor at the National Institutes of Health who has researched Fribrous Dysplasia extensively. The same day Dr. Healy put in a call to him and now, he is currently working with this doctor to define what is going on and what Sam’s future could look like.
Through everything Sam has been so upbeat and curious! After fractures and the surgeries, he is up and going as soon as he can. Sam is always looking to see how things work and explain why things happen the way they do.