Precision Medicine is already saving lives. Read the stories of some of the people that have benefited from this new approach:
William Elder Jr.
William Elder, Jr. was diagnosed with cystic fibrosis (CF) at the age of eight, when the life expectancy for CF patients was very low. Now at 27, Bill is alive thanks to Kalydeco, a treatment of a particular form for his cystic fibrosis and a remarkable drug that treats the underlying cause of his CF, rather than the symptoms.
At a congressional briefing in 2013, Bill told members of the U.S. Senate that just knowing that there were individuals who were researching his condition gave him hope and the strength to continue his treatments and work to be healthier every day. Bill described waking up in the middle of the night after taking his new treatment for the first time. “I sat on the floor of my room for a while slowly breathing in and out through my nose, and then I realized that was it. I had never been able to easily breathe out of my nose before. This was something profound,” he said. He recalls telling his parents, “For the first time in my life, I truly believe that I will live long enough to be a grandfather.”
At age six, Emily Whitehead was the first pediatric patient to be treated with a new kind of cancer immunotherapy and was cancer free only 28 days later. “If you didn’t know what happened to her, and you saw her now, you would have no idea what she has been through,” says Emily’s Mom.
Her parents decided to enroll her in a pioneering cancer immunotherapy trial at the Children’s Hospital of Philadelphia. Emily’s T-cells were collected from her blood and re-engineered in the lab to recognize a protein found only on the surface of leukemia cells. Those T-cells were then infused back into Emily’s blood, where they circulated throughout her body on a mission to seek and destroy her leukemia. Knowing how to turn these T-cells into what Emily called “ninja warriors” required big investments in basic biomedical research. In fact, Science Magazine named it a 2013 Breakthrough of the Year — Emily’s family couldn’t agree more.
Melanie Nix’s family has a history of breast cancer — a history that Melanie couldn’t escape when she tested positive for the BRCA gene mutations linked to breast cancer in 2008. After 16 rounds of chemotherapy and breast reconstruction surgery, she had to have both ovaries removed to further reduce risks of cancer in the future. But Melanie is now cancer free thanks to precision medicine.
Melanie’s positive test results for the BRCA gene mutations instantly concerned her medical team. BRCA gene mutations are linked to breast and ovarian cancers. Further tests confirmed that she had triple-negative breast cancer, a very aggressive form of breast cancer that disproportionately affects African-American women. Her best chance for cancer-free survival was to have a