Preface: Corey Haas has the inherited condition Leber Congenital Amaurosis type 2—LCA2. This condition prevented his eyes from using vitamin A to send visual signals to his brain Chapter One: Ricky Lewis, the author, meets Corey. He observes a happy child who is no longer blind, yet still faces some side effects from gene therapy, including losing his footing sometimes.
The doctor that performed the gene therapy was eye surgeon Al Maguire; this happened September 20, 2008 at the Children’s Hospital of Philadelphia Chapter Two: As a baby, Corey was unlike other babies: he didn’t reach for things that were in front of him; he had a habit of staring at lit bulbs; made no eye contact when drinking from a bottle. At 6 months, his eyes wandered, and thus was assumed to have nystagmus, which was common in albinism. The ophthalmologist Anne Fulton, who specialized in pediatric retina diseases, diagnosed him with albinism.
Turned out not to have albinism; 2004, Dr. Fulton suggested LCA Chapter Three: Leber Congenital Amaurosis: the difference of seeing came from layer of cells from the retinal pigment epithelium. The job of this is to store vitamin A and use protein RPE65 to activate this vitamin. Corey cannot make this RPE65, and by age 40, he would be completely blind. In 2004, despite genetic testing being slow, Dr. Harris sent blood from Haas family to the John and Marcia Carver … Genetic Testing Library; testing was expensive.
Dr. Fulton concluded that Corey inherited a different mutation but in the same gene (Ethan: DNA substitution Nathan: Nonsense mutation). On June 28, 2007, Dr. Fulton suggested gene therapy. Chapter Four: Gene therapy wasn’t always successful, as seen by Jesse Gelsinger. The search for cures became more methodical as people were experimented on. For example, James Phipps was tested on for the small pox vaccine; December 2, 1982 Barney Clark received an artificial heart, Jarvik 7, and since then, thousands are alive due to LVADs.
Failed example: Stephanie Fae Beauclair was born missing half a heart, fixed it with a baboon heart; she died 21 days later.