Teens with sickle cell swimming on spring break for 1st time
1 sibling treated with gene therapy, the other with stem cell transplant
This year, for the first time, two teenagers in Florence, South Carolina, are going to be able to go swimming on spring break without worrying about serious complications from sickle cell disease (SCD).
Ashanti and Dontrell Pickens have long wanted to swim on their school holidays, but were not able to do so: Cold water temperatures, essentially anything colder than 80 degrees, could trigger a sickle cell crisis.
Now, however, the siblings have each received transformational treatments — Dontrell, 15, underwent a type of stem cell transplant, while Ashanti, 13, was treated with a gene-editing therapy — that have radically altered their disease.
“Kids with sickle cell can’t swim if the water is not above 80,” Toni Yates, the teens’ mother, said in a news story from the Medical University of South Carolina (MUSC). “They’ve never, their whole lives, been able to just jump in a pool and not worry about the temperature like the rest of the kids.”
The siblings, both now free of sickle cell symptoms, are looking forward to spring break — and swimming — in Florida. Their mother wants others to know there are cutting-edge treatments, and hope, available.
‘He has a zero percent chance of surviving if we don’t do something’
SCD is a genetic disorder characterized by the production of an abnormal form of hemoglobin, which is the protein that red blood cells use to carry oxygen in the bloodstream. The abnormal protein tends to clump up inside red blood cells, deforming them into a sickle-like shape that gives the disease its name. These misshaped red blood cells can get trapped inside blood vessels and block blood flow, leading to painful vaso-occlusive crises and other complications.
Before the stem cell transplant, Dontrell had been experiencing frequent transient ischemic attacks, called TIAs, which are essentially mini-strokes that can occur when blood flow to the brain is temporarily interrupted. Jennifer Jaroscak, MD, a sickle cell and cellular therapy expert at MUSC Health, said the teen had one of the worst cases of SCD-related brain damage she had seen in her career, and available treatments weren’t helping.
If successful, a stem cell transplant can cure SCD. Also known as a bone marrow transplant, this procedure involves replacing the stem cells in the bone marrow that are responsible for giving rise to new blood cells, thus restoring the patient’s ability to produce red blood cells with healthy hemoglobin.
In a stem cell transplant, usually both the donor and recipient need to be identical, or a match, for certain immune markers to minimize the risk of transplant rejection or other complications. But Dontrell instead received a haploidentical transplant — a haplo transplant for short — in which only half of the markers were matched. His father was the donor for the procedure.
“I was flat-out honest with [his] mom,” Jaroscak said. “I said, ‘I’ve never done this kind of transplant for sickle cell disease. They’re saying there are good results with this kind of transplant. … I think he’ll have a 70% chance of surviving.'”
According to Jarocak, Dontrell’s mom countered with “He has a zero percent chance of surviving if we don’t do something.”
Dontrell became the first pediatric patient in South Carolina to undergo a haploidentical transplant for SCD. The treatment was a success, the doctor noted.
“He did great. He sailed through the transplant,” Jaroscak said.
Now, “he’s a year out. He just got his port out. He makes all normal hemoglobin. He is participating in baseball. He’s finally grown a couple inches because he’s well below normal size for his age,” Jaroscak said. “So he’s doing all the good things.”
Transformational treatments prove life-changing for siblings
Ashanti, meanwhile, received a different transformational treatment — though also an experimental one.
The teen participated in the adolescent cohort of the RUBY trial (NCT04853576), a study testing Editas Medicine’s gene-editing therapy candidate renizgamglogene autogedtemcel, known as reni-cel, in people with SCD.
Reni-cel is designed to enable patients’ blood cells to produce increased amounts of fetal hemoglobin, an alternative form of hemoglobin that’s normally produced during early fetal development. This form of hemoglobin can help compensate for the mutated version of the adult protein, ultimately reducing SCD symptoms and complications.
I want people to know that there is hope because I feel like with sickle cell, you’re not promised a lot of hope.
For Ashanti, the procedure seems to have worked as intended, according to Jaroscak, who noted that the field of sickle cell treatment has changed dramatically in the last few years.
“There are curative and transformative therapies that are available, and people should really talk to their sickle cell team about what other treatments are available for them,” Jaroscak said.
Yates said she hopes her children’s stories will offer hope to other people affected by SCD.
“I want people to know that there is hope because I feel like with sickle cell, you’re not promised a lot of hope,” she said.
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