Sickle cell anemia patient reunites with Long Island doctors whose gene therapy treatments made him symptom-free
Sebastien Beauzile, the first person in New York to receive Lyfgenia, a gene therapy to treat sickle cell anemia, at Cohen Children's Medical Center on Thursday in New Hyde Park. Credit: Newsday/Howard Schnapp
Within 12 hours of landing in Florida in January, 2021, Sebastien Beauzile, then 17, was admitted to two separate hospitals.
He had come to Florida to surprise his sister for her birthday. But instead, he had become so weak from sickle cell anemia that he had to be carried into a local hospital, then sent to another specialty hospital, where he stayed for two weeks.
Diagnosed with the disease as an infant, the Laurelton, Queens, resident often found that traveling, like most aspects of his life, was ruled by his health. He spent most of his vacations under medical care.
"Growing up with sickle cell pretty much ran my overall life," he said.
But in December, Beauzile, 21, became the first person in New York State to be made symptom-free of sickle cell disease after undergoing Lyfgenia, a new type of gene therapy that uses stem cell technology to transform his own bone marrow so it can produce normal hemoglobin in red blood cells.
On Thursday, he reunited with physicians he had known most of his life in the lobby of Cohen’s Children’s Medical Center in New Hyde Park, embracing them like family.
"That has given me the opportunity to live a normal life," he said about the gene therapy.
Sickle cell disease is a group of conditions that affect a person’s red blood cells, causing them to take a sickle shape that can't move through blood vessels easily and can block oxygen from reaching body tissues, causing anemia and chronic pain.
Diagnosed at a young age, Beauzile said that struggling with sickle cell disease is the only life he has ever known.
His mother, Magda Lamour, 60, of Laurelton, said Beauzile had been going to the hospital since he was 2 months old, and had his first sickle cell-related complication at 4 months old. He had his first blood transfusion at 2 years old.
The treatments had their own complications, Lamour said, because Beauzile’s body would eventually reject them, resulting in chronic pain.
"As a caregiver, watching him suffer was the most hurtful thing to experience," Lamour said.
Beauzile said he "was in home more than school," because he had at least four hospital admissions every year of his life.
Dr. Banu Aygun, associate chief of hematology at Cohen, said before gene therapy, Beauzile’s only chance of a permanent cure was through a bone-marrow transplant, but he was never matched with a donor on the registry.
About 100,000 people in the United States are diagnosed with sicklecell disease. Although the disease predominantly affects the Black population, only about 25% of Black patients will match with someone on the registry, said Dr. Jonathan Fish, head of Stem Cell Transplantation and Cellular Therapy at Cohen.
"Finding a donor on the registry really depends on who you are," Fish said. "So, to be able to offer patients who have a limiting disease like sickle cell disease and a life shortage disease like sickle cell disease, an opportunity to have a life altering therapy, is truly remarkable."
On Dec. 17, doctors extracted Beauzile’s own bone marrow to collect his stem cells. Doctors then inserted a healthy adult hemoglobin gene into the bone marrow, which was reinserted back into Beauzile. Because it is a patient’s own bone marrow being implanted, there is a minimal risk of rejection.
"The patient is their drug," said Dr. Jeffrey Lipton, chief of Division of Pediatric Hematology/Oncology and Stem Cell Transplant at Cohen.
Beauzile said that he almost instantly felt a difference and since then, has had no symptoms. He can now do many things regularly that he couldn’t do before, like work out.
As he now considers Dec. 17 his new birthday, the beginning of a new life, Northwell staff, physicians and his family, surprised Beauzile with a red velvet cake and sang "Happy Birthday."
"You guys have changed my life," he told them.
Within 12 hours of landing in Florida in January, 2021, Sebastien Beauzile, then 17, was admitted to two separate hospitals.
He had come to Florida to surprise his sister for her birthday. But instead, he had become so weak from sickle cell anemia that he had to be carried into a local hospital, then sent to another specialty hospital, where he stayed for two weeks.
Diagnosed with the disease as an infant, the Laurelton, Queens, resident often found that traveling, like most aspects of his life, was ruled by his health. He spent most of his vacations under medical care.
"Growing up with sickle cell pretty much ran my overall life," he said.
But in December, Beauzile, 21, became the first person in New York State to be made symptom-free of sickle cell disease after undergoing Lyfgenia, a new type of gene therapy that uses stem cell technology to transform his own bone marrow so it can produce normal hemoglobin in red blood cells.
On Thursday, he reunited with physicians he had known most of his life in the lobby of Cohen’s Children’s Medical Center in New Hyde Park, embracing them like family.
"That has given me the opportunity to live a normal life," he said about the gene therapy.
Sickle cell disease is a group of conditions that affect a person’s red blood cells, causing them to take a sickle shape that can't move through blood vessels easily and can block oxygen from reaching body tissues, causing anemia and chronic pain.
Diagnosed at a young age, Beauzile said that struggling with sickle cell disease is the only life he has ever known.
His mother, Magda Lamour, 60, of Laurelton, said Beauzile had been going to the hospital since he was 2 months old, and had his first sickle cell-related complication at 4 months old. He had his first blood transfusion at 2 years old.
The treatments had their own complications, Lamour said, because Beauzile’s body would eventually reject them, resulting in chronic pain.
"As a caregiver, watching him suffer was the most hurtful thing to experience," Lamour said.
Beauzile said he "was in home more than school," because he had at least four hospital admissions every year of his life.
Dr. Banu Aygun, associate chief of hematology at Cohen, said before gene therapy, Beauzile’s only chance of a permanent cure was through a bone-marrow transplant, but he was never matched with a donor on the registry.
About 100,000 people in the United States are diagnosed with sicklecell disease. Although the disease predominantly affects the Black population, only about 25% of Black patients will match with someone on the registry, said Dr. Jonathan Fish, head of Stem Cell Transplantation and Cellular Therapy at Cohen.
"Finding a donor on the registry really depends on who you are," Fish said. "So, to be able to offer patients who have a limiting disease like sickle cell disease and a life shortage disease like sickle cell disease, an opportunity to have a life altering therapy, is truly remarkable."
On Dec. 17, doctors extracted Beauzile’s own bone marrow to collect his stem cells. Doctors then inserted a healthy adult hemoglobin gene into the bone marrow, which was reinserted back into Beauzile. Because it is a patient’s own bone marrow being implanted, there is a minimal risk of rejection.
"The patient is their drug," said Dr. Jeffrey Lipton, chief of Division of Pediatric Hematology/Oncology and Stem Cell Transplant at Cohen.
Beauzile said that he almost instantly felt a difference and since then, has had no symptoms. He can now do many things regularly that he couldn’t do before, like work out.
As he now considers Dec. 17 his new birthday, the beginning of a new life, Northwell staff, physicians and his family, surprised Beauzile with a red velvet cake and sang "Happy Birthday."
"You guys have changed my life," he told them.
SARRA SOUNDS OFF: Newsday's All-Decade teams for the 1950's and 1960's On the latest episode of "Sarra Sounds Off," Gregg Sarra and former Newsday sports writer Mike Candel discuss their All-Decade boys basketball teams for the 1950's and 1960's, plus highlights from the county championships.
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SARRA SOUNDS OFF: Newsday's All-Decade teams for the 1950's and 1960's On the latest episode of "Sarra Sounds Off," Gregg Sarra and former Newsday sports writer Mike Candel discuss their All-Decade boys basketball teams for the 1950's and 1960's, plus highlights from the county championships.
