San Antonio Express-News (Sunday)
Sickle cell patient becomes her own donor
Now Katy teen can see a future unfolding
“I felt like there are people who need this more than me. But now I thank God every day. It’s a real blessing.”
Helen Nduku, who underwent gene therapy
The pain Helen Nduku experienced from sickle cell disease was debilitating.
“Imagine someone squeezing and stabbing you at the same time,” the 17-year-old Katy resident said. “It’s very much like that. It’s intense, down in your bones.”
It was so bad that Nduku had to take narcotic painkillers for relief. She regularly went to the hospital, staying for weeks at a time.
“I’m so used to the hospital,” she said. “It’s like a second home to me.”
The pain was so pronounced that it prevented her from having a normal childhood.
She never learned to ride a bike and couldn’t play video games because sitting for an hour or more often would be too much.
Traditionally, the only cure for sickle cell disease is a bone marrow transplant from a matched sibling donor, said Dr. Tami John, an assistant professor in the Department of Pediatrics, Section of Hematology/ Oncology at Baylor College of Medicine.
That was not a possibility in Nduku’s case.
“She did not have a matched sibling,” John said.
But that was before gene therapy for sickle cell disease came into the picture.
The teen is the first patient in the Texas Medical Center to receive gene therapy for sickle cell disease. Basically, the approach involves extracting stem cells from a patient’s own blood, instead of relying on someone else to donate.
“You’re essentially your own donor,” John said.
Once the stem cells are collected, they are modified in a lab.
Modifying the stem cells is a lengthy process, lasting about two to three months, John said. The timeline from collecting cells to manufacturing takes about four to six months, she said.
In the meantime, patients undergo chemotherapy, which essentially kills off the other bone marrow. Afterward, the patient receives a transfusion of their own stem cells, now modified, which plants the seeds for healthy red blood cells to form.
What is sickle cell?
Nduku was diagnosed at birth with sickle cell disease, an inherited blood cell disorder.
Healthy red cells are round. In individuals with sickle cell disease, the red blood cells are shaped like a sickle, or a “C.”
Individuals with the disorder have a constant shortage of red blood cells. The cells can also get stuck and prevent sufficient blood flow or oxygen delivery. The result is pain and organ damage.
Symptoms of the disease include, but aren’t limited to, abdomen and chest pain, fatigue, breathlessness, delayed growth, jaundice, susceptibility to infections, leg ulcers, swollen extremities, stroke and fever, according to the Sickle Cell Association of Texas.
Even with standard treatment options, patients can still have acute and chronic symptoms.
A couple of years ago, Nduku opted to home-school because navigating a high school campus was too difficult. Besides, the painkillers made it difficult to concentrate in class. Her GPA began to slip.
Nduku gave up on dreams of “one day.” She decided that going to college would be too difficult with her immobilizing pain — and with that, her hopes of a career also went down the drain.
“If I would get sick, I wouldn’t be able to go to class, and I would miss out,” she said. “If I went to college, who would take care of me?”
There were times when she was frustrated. “I would complain to my brother, ‘Why did God do this to me?’ ”
Most of the time, however, she felt resigned to a cycle of intensifying pain and hospitalizations.
“You grow up with sickle cell and you think: This is my life. I’m probably going to die from sickle cell,” she said.
Impact and new options
There are 100,000 cases of sickle cell disease in the U.S., according to data from the Centers for Disease Control and Prevention.
The disease impacts primarily Blacks, Hispanics, Greeks, Italians, East Indians, Saudi Arabians, Asians, Syrians, Turks, Cypriots and Sicilians, according to the Sickle Cell Association of Texas. But the occurrence of sickle cell anemia is higher in the African American population, affecting 1 in 365 births. By comparison, CDC data says, in Hispanic American births, it’s 1 in every 16,300.
Human trials for the stem cell treatment started about five years ago. In 2020, Texas Children’s started a Phase 3 clinical trial, sponsored by bluebird bio, a Boston-based biotechnology company.
The clinical trial is a multisite study with participants in seven states. Texas Children’s was the first to enroll and treat, as well as to study, pediatric patients.
Nduku was 15 when presented with the option to enroll.
“Helen has been a patient at Texas Children’s for most of her life,” John said. “She’s had significant complications from her sickle cell disease. Gene therapy just became available. We decided together that this route would be best for her.”
The doctor explained that Nduku’s frequent hospitalizations and chronic pain, despite standard therapies, made her an ideal candidate for the trial. She also met inclusion criteria and age requirements.
Nduku admitted to being hesitant at first. She worried about complications — and also did not want to build up any hopes that she would be selected for the trial.
“I didn’t think I would be chosen,” she said. “I had no expectations at all.”
When Nduku learned she had been selected, her parents, Enita and Kayode Odofin, urged her to go through with the option.
“My mom and dad really pushed for it,” Nduku recalled. “They said, ‘You’ll be able to go to college away from home.’ I started to think of my own freedom. It was nice to think I could be free.”
Becoming her own donor
Shortly after Nduku decided to enroll, COVID-19 arrived and delayed the process.
“The stem cell collections were delayed three to four months due to the pause on nonemergent procedures due to COVID-19,” John said.
It ended up taking about one year from enrollment to the stem cell transplant, John said.
Nduku’s stem cells were collected in July and August in 2020. In October, Nduku turned 16 while her stem cells were being genetically modified. In January 2021, she began chemotherapy for four days.
On Jan. 19, 2021, Nduku received a transfusion of her manipulated stem cells.
“I felt better,” Nduku said. “They had to watch me for about two weeks to make sure my platelets were stable.”
First, she went every week for a checkup. Eventually, the appointments were spaced out. She currently goes quarterly.
For about six months, Nduku followed strict precautions to protect her compromised immune system. After the first three months, she was allowed to meet with small groups of people. By August, she began taking trips outside.
“I started going to the store or going to the park,” she said. “Little basic things, I started doing.”
In September, Nduku was able to undergo hip replacement surgery. Her sickle cell disease caused avascular necrosis, or death of bone tissue caused by a lack of blood supply, in her hip.
And in the fall, Nduku began working part time as a truck dispatcher at a company owned by her mother.
She can now sit and enjoy a video game. And she learned, at 17, to ride a bike.
She has been accepted into the University of Pittsburgh and plans to take a gap year before studying chemistry or business.
John plans to follow her for at least 15 years to ensure the therapy is still working.
Spreading hope
Nduku is in a small group. “Only about 50 people in the world have received this therapy to date,” John said.
Texas is home to the third largest population of individuals with the disorder in the country, John said. And in the Greater Houston area, more children are born with sickle cell than in other parts of the state.
In the past, Nduku said she felt unworthy of being the first patient in the gene therapy study.
“For a while, I felt selfish,” she said. “I felt like there are people who need this more than me. But now I thank God every day. It’s a real blessing.”
She wants other patients to know this life-changing option is out there.
“I hope to give other people hope,” she said.