Preserving Xavier’s Ability to Walk—and More
When Xavier broke his weak, malformed leg, the emergency room doctor didn’t need a test to diagnose the toddler with a genetic tumor predisposition disorder called neurofibromatosis type 1 (NF1). His leg and café-au-lait spots were telltale symptoms.
Preserving Xavier’s leg and his ability to walk became his mom’s single focus—until scans revealed the extent of his tumors growing on nerve tissue throughout his body. Some of them were growing dangerously close to his spine. As they expanded, his doctors feared they would disrupt his nerves and potentially leave Xavier with nerve damage with serious consequences, including paralysis.
Although NF1 is a surprisingly common genetic disorder, no treatment existed, and surgery wasn’t an option. Xavier’s best hope was an NIH clinical trial testing a medication originally used for cancerous tumors. Thanks to the trial, Xavier’s tumors began to shrink for the first time and retreat from his spine.
Xavier’s trial participation helped bring about the very first treatment for NF1. Selumetinib became U.S. Food and Drug Administration (FDA)-approved in April 2020, giving hope to children around the world diagnosed with NF1.
“Doctors at the National Institutes of Health are really nice … Dr. Gross – best doctors you’ll ever meet. And here at The Children’s Inn, it’s a really, really nice place to be. Thank you, Children’s Inn, for providing us with a shelter and for making for a good visit.”
NF1 Research
National Cancer Institute (NCI)
NF1 is a genetic tumor predisposition disorder that causes tumors to grow on nerve tissues anywhere in the body. NF1 tumors are typically benign but can turn cancerous. The tumors can cause disfigurement, pain and difficulty with movement. Selumetinib is the first and only FDA-approved treatment for NF1. Children like Xavier staying at The Inn played a crucial role in this groundbreaking clinical research effort. Learn more about the trial and the dedicated researchers who made the first treatment happen.