According to a story from wmur.com, a 12-year-old boy named Grady Smith from Salem, NH lives with adrenoleukodystrophy, a rare disease. Grady is a big fan of basketball (his favorite team is the Celtics) and always dreamed of having a court at his home. The surprise gift was organized by Campaign One at a Time, a nonprofit focused on children living with life-threatening illnesses.
Adrenoleukodystrophy is a genetic disease which is linked to the X chromosome. It is most characterized by the accumulation of fatty acids because the enzymes that process them are not functioning normally. This leads to damage of the myelin sheath, an insulating, fatty layer that coats nerve cells and is essential to their function. Adrenoleukodystrophy is caused by mutations that affect the ABCD1 gene. The presentation of this disease varies significantly. This makes the process of diagnosis very difficult in many cases. Some patients have no symptoms, but when they do appear, they often include neurodegeneration, paraparesis, neuropathy, behavioral abnormalities, adrenal insufficiency, and dementia. Symptoms often progress in severity without treatment. Treatment of adrenoleukodystrophy may include gene therapy, stem cell transplant, and changes in diet. These treatments are often only effective in the early stages of the disease. To learn more about adrenoleukodystrophy, click here.
It was five years ago when Grady and his family received the diagnosis. He was having trouble with hearing loss and a test revealed a characteristic lesion on his brain. For Grady, receiving the basketball court was a tremendous gift:
“Basketball’s always been my therapy. If I’m stressed, I would go outside and I would play basketball for a while.” – Grady
The boy struggles with depression and anxiety and is being treated with chemotherapy, leading to nasty side effects. In order to have a chance at a cure, he’ll need a bone marrow transplant. When Grady was born, the state didn’t scan for adrenoleukodystrophy on newborn screenings. Since then, the Smith family helped push for the disease to get added to the screening panel for NH.