Mar. 15, 2017
Posted by Amanda DeBellis
Rare Impact Award
After being diagnosed with Giant Axonal Neuropathy (GAN), a rare genetic disorder, Christine (Chrissy) Grube volunteered to be the first patient injected with an experimental treatment so that other children with GAN, including her younger sister, Amanda, would have the chance at a better life.
Her parents, Katherine and Steve, told Chrissy that they were not sure of the outcome. Chrissy knew the possibility of not surviving, and she also knew the gravity of her prognosis. “She was excited but very nervous,” her father said. “She understood that it might not work. She understood that it might make her worse — but she also understood that it was a chance to walk again.”
Chrissy’s symptoms improved after the trial. She showed movement in her legs and feet and improved dexterity, signs of success with this neurological disease that causes nerves to die, muscles to stop working, and where children do not survive past their teens or twenties. Sadly, Chrissy passed away in February 2016 at the age of 10, following complications from spinal surgery to correct scoliosis caused by GAN. The week that she died, Chrissy had moved her toes for the first time in years.
“She never once said, why me,” says Chrissy’s mom. “She was trapped in that body and never got angry, never felt sorry for herself, and never made things about her.”
Chrissy inspired so many people, of all ages, with her kindness and bravery, and she continues to help advance medical research. Researchers and doctors at University of North Carolina’s School of Medicine who are studying samples donated after Chrissy’s autopsy recently told her parents that Chrissy has saved years of testing and research to advance the progress of gene therapy. With a degenerative disease like GAN, each passing moment can be critical, and Chrissy is helping to save countless lives.
NORD is honored to recognize Christine Grube with a 2017 Rare Impact Award.