Sickle cell patient declared disease free after groundbreaking therapy on Long Island
Gene therapy cures man from sickle cell
A sickle cell gene therapy treatment has allowed a Long Island man to turn a chapter in his life. He was Sebastien Beauzile was born with sickle cell anemia and struggled to live a pain free life. However, doctors performed a treatment that made him celebrate his new life. Fox 5's Jodi Goldberg has more on the story.
A 21-year-old New York man who has spent much of his life battling sicken cell anemia has now been declared disease free thanks to a breakthrough gene therapy at Cohen Children's Medical Center.
What we know:
Sebastien Beauzile, 21, was born with sickle cell anemia, a hereditary blood disorder that can cause severe pain, tissue damage, and serious complications.
But now, he has become the first New Yorker undergo a groundbreaking gene therapy treatment, and doctors at the Cohen Children's Medical Center say he is now sickle cell free.
"Sickle cell was like a blockade and now it’s like a wall I just jumped over," Beauzile said.
The backstory:
Sickle cell anemia is caused by misshapen red blood cells that block blood flow and limit oxygen delivery throughout the body. For much of his life, Beauzile dealt with pain crises and restrictions on his daily life.
"I always had to deal with pain crises, if I can do something, if I can't do something," he said.
Cohen Children’s Medical Center treats about 600 children with sickle cell disease. Doctors say roughly 100,000 people live with the condition in the U.S., and millions more worldwide.
What they're saying:
The life-altering therapy eliminates the need for a stem cell transplant which can also cure the disease but is risky and requires finding the right donor. Now, doctors say this therapy offers new hope for patients.
"We know that 75% of Caucasians will find a match in the registry, and only 25% of the black popultion will find a match," said Dr. Jonathan Fish.
Dr. Charles Schleien, Chair of Pediatrics, added, "The cliché ‘the future is here’ is actually true in this case."
Why you should care:
Traditional stem cell transplants can cure sickle cell disease but come with serious risks and require a suitable donor—something that’s often out of reach for patients of color. This new gene therapy eliminates the need for a donor and offers a safer, more accessible path to healing.
"The patient is their own drug, so you start with their damaged cells. You then fix them and after conditioning the patient to receive them, you give them back," Dr. Jeffrey Lipton said.
What's next:
Beauzile, who once called the hospital his second home, now looks forward to a life free from pain. He plans to travel, go to the gym, and pursue a career in medicine to give back to the doctors who changed his life.
"I haven’t heard anything about pain. He’s been home, he hasn’t been in pain—which isn’t something that usually happened," said his mother, Magda Lamour.
"I feel like a new man," Beauzile added.