Life without Pain Crises

At NewYork-Presbyterian Morgan Stanley Children's Hospital, a teen finds hope in a breakthrough sickle cell therapy.

Most Teenagers Take Carefree Afternoons for Granted. But for 16-year-old Jonathan Lubin, simply dribbling a basketball is a hard-won triumph. From his diagnosis at two weeks old, Jonathan's life was shaped by sickle cell disease, a genetic disorder that causes red blood cells to become misshapen and block blood vessels, cutting off oxygen to tissues. By two months old, his tiny fingers and toes were so swollen he would cry at the lightest touch. At nine months, he was rushed to the hospital for his first pain crisis.

"I didn't know how to calm him down," his mother, Fabienne, recalls. "As a mother, to not be able to do anything was unbearable."

As he grew, the disease tightened its grip on what should have been a "normal" childhood. Running outside or jumping into a pool could set off agony. Trips to the hospital were so frequent that Fabienne and Jonathan's dad, JR, kept a packed bag by the door, ready to drop everything.

"We'd take him to daycare or a party, and then get a call he was in crisis," JR says. "We'd grab the bag and rush to the hospital."

Serious complications followed: Repeated infections, fevers, ulcers, and organ damage so severe he lost his spleen and gallbladder. At age 10, weeks before basketball tryouts, he awoke to unbearable pain in his legs: Avascular necrosis was destroying his hip.

"Not being able to walk felt like the worst thing in the world," Jonathan says. "It's something you do every day. But I was literally bedridden."

Without a matched donor for a bone marrow transplant, options were limited. Then came a glimmer of hope: a clinical trial at NewYork-Presbyterian Morgan Stanley Children's Hospital at Children's Hospital of New York testing a new gene-editing therapy, known today as Casgevy. It would use Jonathan's own stem cells, edited to switch back on fetal hemoglobin, to prevent cells from sickling.

"The process is lengthy and is a big commitment on the family's part," says Dr. Monica Bhatia, Director of the Pediatric Stem Cell Transplant Program at NewYork-Presbyterian Morgan Stanley Children's Hospital, who was an investigator on the trial Jonathan participated in and oversaw his care.

Jonathan's stem cells were collected, genetically edited, then returned to his body after four days of intense chemotherapy to clear his bone marrow.

Within two weeks, Jonathan's counts began to climb. In less than six weeks, he was home, and it's now been over two years since his last pain crisis. Jonathan plays basketball with friends, drums for his church band, and even traveled to Paris for his birthday.

Thanks to the expert team at NYP and the promise of pioneering research, Jonathan's future is wide open—and wonderfully ordinary.