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Thirteen-year-old Rickey Buggs, III, recently celebrated being freed from a life-threatening blood disorder with a plate of Olive Garden spaghetti and birthday cake at a Nashville hospital.
Rickey's painful crises from sickle cell disease led to repeated emergency room visits and hospital stays throughout his childhood. Now, after undergoing a groundbreaking gene-editing therapy, he is likely cured of the inherited disorder, said Dr. Haydar Frangoul, a pediatric hematologist-oncologist at TriStar Centennial Children's Hospital who helped pioneer the treatment.
"It sounds like science fiction, but it works," said Frangoul, whose work has drawn patients from 28 states.
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Before gene therapy, treatments mainly focused on managing pain and symptoms. Now, gene-editing technology can target the genetic defect behind sickle cell disease and potentially free patients from its devastating symptoms.
Frangoul, medical director of HCA Healthcare's Sarah Cannon Transplant and Cellular Therapy Program, made history in July 2019 by performing the first procedure of its kind in the world on an adult patient — a woman who continues to thrive seven years later. The doctor led multi-site clinical trials on more than 40 patients, research that earned U.S. Food and Drug Administration approval in 2024 for use in adult patients and children age 12 and older.
Frangoul then oversaw clinical trials in collaboration with the Sarah Cannon Research Institute of nearly a dozen children ages 5 to 11 with severe sickle cell disease, authoring a study published in June in the New England Journal of Medicine. On July 1, FDA officials publicly announced a new milestone, approval for doctors to use the "state-of-the-art" gene-editing treatment on children as young as age 2.
Sickle cell disease is an inherited disorder that can cause chronic, severe and unpredictable pain and dangerous complications. It attacks the body's organs and may cause strokes and deaths in patients in their 40s or younger, Frangoul said.
An estimated 100,000 Americans have the disease and about 1 in 13 African Americans carry the sickle cell trait, according to the Sickle Cell Disease Association of America. Both of Rickey's parents had the trait, though his mother, Dr. Lametra Scott, said she didn't know about this until she was pregnant.
The disease can harden and mutate red blood cells into a crescent-like shape, causing them to stick to the walls of blood vessels instead of transporting oxygen throughout the body, Over time, the sickle cells build up inside the blood vessels and cause blockages.
An estimated 20% of patients or fewer qualify for a bone marrow transplant from a relative who is a match and who doesn't share the trait. However, the procedure is risky and can be deadly.
With the new therapy, there is no risk of rejection because doctors remove the patient's own blood-forming stem cells and edit them before infusing them back into the patient, Frangoul said.
The transplant can't reverse damage but prevents further harm, sparing significant pain and more damage, the doctor said.
"The intent of this therapy is curative for the disease," Frangoul said, pointing to the world's first patient who he cared for and who shows no signs of active disease seven years later.
The Sickle Cell Disease Association of America called gene therapy "potentially curative," but cautioned on its website that "it could act as a cure, but it is too new to say for sure. It has been shown to result in a significant decline in pain episodes, but we need to learn more about long-term impacts and side effects."
Frangoul said all available data shows the treatment continues to protect patients from complications of the disease, but added: "clearly, we need to follow patients long term to make sure that this is a long-term cure."
Weeks after his surgery, Rickey said: "I'm way better since the beginning."
Frangoul, who oversaw Rickey's transplant, stopped by the teen's room July 1 and the two watched a few minutes of a World Cup game. The 13-year-old longed to begin summer at home, where he can sleep in his own bed and play PC video games. He urged Frangoul to instruct the doctor on duty to let him leave the hospital early.
"Slip him a note," the teen suggested.
Everyone in the room laughed, except for Rickey.
Frangoul assured the teen he would get to leave soon and pointed to a future of high school sans sickle cell disease.
That will be a big change from Rickey's earlier schooling, when his mother would frequently rush to his class to give him medication for bouts of pain.
"We now celebrate two birthdays," his mother said.
One marks Sept. 13, the day she gave birth to her only child nearly 14 years ago.
The other, on May 26, honors the day of his transplant nearly two months ago when his life began anew.
'Chain of limitations'
Rickey loves to swim and play sports, but both can be dangerous with sickle cell disease.
He experienced a crisis after one swim session when his body got too cold.
"It was like needles hitting me in the legs," he said.
The swimming session led to a trip to the emergency room.
His mother said she has ensured her son could participate in sports like other kids, but Rickey said: "I feel like I had a chain of limitations."
In the water, he wore a wet suit to keep his body from being too cold. When he left the water, he immediately changed out of wet clothes and dried off.
When running or playing outside, Rickey had to drink lots of water and take breaks to slow his breathing. Some athletes with the disease have suffered complications that can include deadly heart attacks or strokes.
Another time, the summer heat caused a crisis with Rickey feeling severe back pain that sent him to a hospital emergency room.
"It felt like someone was poking my back, just kept poking," he said.
Something as seemingly minor as a fever could be serious because he has had a weakened immune system.
How the new therapy treats sickle cell patients
While Rickey remained awake, it took between four and five hours for medical staff to remove stem cells from the teen's blood through a line in his chest.
The blood was sent to an external lab for gene editing to increase production of fetal hemoglobin, a protein that helps deliver oxygen from the mother's bloodstream to the fetus and is suppose to switch to adult hemoglobin soon after birth.
While his cells were being modified, Rickey receive four days of chemotherapy to eliminate his bone marrow.
After editing his cells, they were frozen and mailed from the lab to the Nashville hospital.
Medical staff brought the treated stem cells in a vial and thawed them the day of the transplant. Then, they used three syringes to transfusion the cells into a central line insert in the teen's chest.
"It has a nasty taste," Rickey said.
A nurse gave the teen candy that reminded him of Sour Patch Kids gummies, which helped.
Rickey remained awake during the procedure, noticing his heart race and his stomach expand. Nerves may have been a factor, but a preservative used to keep the stem cells alive during freezing can cause flushing, abdominal pain and nausea during the infusion.
After the transplant, Rickey remained hospitalized for about six weeks, as doctors waited for his body to make healthy red blood cells.
"I'm cured? I don't know if it's all the way," Rickey said weeks after the transplant, causing his mom to laugh.
He was still experiencing a stabbing pain in his left knee when he walked, but Frangoul assured him that will soon subside.
Rickey's mom said her son should gradually realize the life-altering transformation when he is able to return home and when he begins the 8th grade at Bellevue Middle School without blood transfusions every three weeks and frequent visits from his mom to bring him pain medication. And without painful episodes that have led to hospitalization.
A day before Rickey left the hospital on July 2, his mom smiled and told him: "You'll see, you are cured."
Mom turned advocate
During one episode before his transplant, Rickey had a fever but no pain or respiratory distress to indicate he had a serious condition, acute chest syndrome, or ACS. It's the leading cause of hospitalization and death in patients with sickle cell disease.
Fortunately, Rickey's mother knew to get him evaluated immediately and it was caught early. She knows some parents might initially dismiss a fever, so in 2015, she started the Breaking the SSickle Cell Cycle Foundation to spread awareness.
Rickey concedes: "She's good at what she does."
Scott is hoping to address health care disparities that disproportionately impact African Americans and Hispanic residents with delayed sickle cell detection.
Scott said the foundation is offering free testing to see if someone carries the trait through a partnership with Meharry Medical College's Sickle Cell Center.
Scott said testing for the sickle cell trait should be covered by insurance and promoted by doctors in childhood. She didn't discover that she had the trait until she became pregnant.
Even if someone like Scott has the sickle cell trait but not the disease, they can still experience life-threatening exertional sickling, which can lead to physical collapse during intense exercise. Without breaks and water, exercise can put child and adult athletes at risk of heart attack or stroke.
"It always scares me that a lot of the deaths occur when school starts back," Scott said. "Your coach is yelling: 'Go, go, go!' and you don't want to me be the weakest link, but a couple of days later and your parents are planning your funeral."
Along with promoting early testing, Scott is spreading the word about the new treatment.
More information
Information about the disease and sickle cell trait tests can be found on the Breaking the SSickle Cell Cycle Foundation website.
Residents can sign up for the foundation's Sickle Cell Warrior Walk & Run 5K, planned for 9 a.m. Sept. 26 at Hartman Park, 2801 Tucker Road.
Details about the recent FDA approval of the gene-editing therapy can be found on its website.
For more information about the disorder and advocacy opportunities, visit the Sickle Cell Disease Association of America at sicklecelldisease.org.
Beth Warren covers health care and can be reached at [email protected] or on X at @BethWarrenCJ..
This article originally appeared on Nashville Tennessean: FDA approves Nashville doctor's potential cure for sickle cell disease
