Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.
Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.
Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies). It’s one of the "Jewish genetic diseases," but can affect anyone.
There’s much that Max can't do, but one look into his eyes, as in this wonderful photo, reveals that he’s as sharp as anyone. He thinks, he feels, and he responds.
Max was the youngest of the more than a dozen brave kids who’ve had gene therapy for Canavan disease. When he was 11 months old, 6 catheters snaked into his skull delivered 600 billion or so viruses, each harboring a working copy of the gene his body lacked.
The gene therapy helped. “After the first treatment, we noticed improved vision. Within two to three weeks, he started tracking with his eyes, and he got glasses. He became more verbal and his motor skills improved. His vision is still so good that his ophthalmologist only sees him once a year, like any other kid with glasses. She calls him Miracle Max,” his mom Ilyce told me for my book "The Forever Fix: Gene Therapy and the Boy Who Saved It".
Ilyce has contributed an essay on Max’s life to the seven editions of my human genetics textbook published since 2001, which was shortly after the boy had a second gene therapy. The field had stalled when an 18-year-old, Jesse Gelsinger, died from an experiment in 1999, and during the time lag while researchers figured out what went wrong, and clinical trials were halted, some of the Canavan kids backslid (you’ll have to read my book for the full story!).
I finally met Max at his 13th birthday party, along with researcher Paola Leone, who made it all possible. And I plan to be there for his 15th, in October. The best news of all is that experiments in mice – yes, animal studies continue even once a treatment is in clinical trials – are working well with a new virus delivered through the bloodstream. So the next generation of Canavan kids who volunteer for gene therapy clinical trials will have an easier time.
Go Maxie! You are an inspiration to all and represent genetic science at its best!