Sickle cell success stories: Why spring break will lead to a first for these two

Ashanti and Dontrell Pickens of Florence, South Carolina, are about to do something on spring break that they’ve been wanting to do for years: swim without worrying that it will trigger a sickle cell crisis. 

Their mom explained why. “Kids with sickle cell can't swim if the water is not above 80,” Toni Yates said. “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.”

 

Ashanti, 13, and Dontrell, 15, haven’t been able to do a lot of things other kids take for granted. Both were born with the inherited condition and have dealt with its effects their entire lives – until recently.

Dontrell became the first pediatric patient in South Carolina to have a “haplo” bone marrow transplant for sickle cell disease. In a haploidentical (half-matched) transplant, the donor doesn’t have to match all of the recipient’s white blood cell markers. The kids’ dad was able to be Dontrell’s donor.

And Ashanti got gene therapy through a clinical trial at the Medical University of South Carolina. It caused her body to stop producing sickle-shaped blood cells. Both kids have gone from struggling under the burden of a chronic condition to the freedom of finally feeling well.

It was a different story before the kids got their treatments through a team led by Jennifer Jaroscak, M.D., a sickle cell and cellular therapy expert at MUSC Health. Their mother said those were difficult days.

“They both started getting really, really sick. 2020 and 2021 is when they both, just back to back to back, started having really bad crises.” In a sickle cell crisis, misshapen red blood cells cause blockages in blood vessels that can lead to levels of pain ranging from dull to stabbing. 

 

Crises can also cause larger problems, including chronic pain, acute chest syndrome, liver disease, lung issues and strokes. “Dontrell started having TIAs (mini-strokes). And so I was like, ‘I want to cure them,’” Yates said of her two children.

Jaroscak did, too. “Dontrell had the worst central nervous system disease I’d ever seen,” the doctor said, referring to a sickle cell complication that raises the risk of stroke.

“He came up here for a bone marrow transplant consult when he was getting chronic automated exchange transfusions every two weeks. And he still was having TIAs,” Jaroscak said. In exchange transfusions, the patient’s unhealthy sickle-shaped red blood cells are removed and replaced with healthy donor cells. It’s a temporary but important fix.

Dontrell’s mother was terrified she was on the verge of losing him. She worried about Ashanti, too. But she feared that Dontrell, her oldest child, was running out of time. 

That’s when Jaroscak told Yates that a haplo bone marrow transplant might be his best bet. “I was flat-out honest with Mom. 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. We do haplo transplants for other diseases. I think he'll have a 70% chance of surviving,” Jaroscak said.

 

“His mom said, ‘He has a zero percent chance of surviving if we don't do something.’ And he did great. He sailed through the transplant. 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. So he's doing all the good things.”

Then, it was Ashanti’s turn. Jaroscak said she was a good candidate for the Ruby clinical trial sponsored by Editas Medicine. It edited her stem cells using CRISPR technology. CRISPR, short for clustered regularly interspaced short palindromic repeats, can modify DNA. Jaroscak said that editing aimed to allow her body to start producing healthy red blood cells that make fetal hemoglobin. “She could become asymptomatic from her sickle cell disease.”

And Ashanti did. Both she and Dontrell now face a future that they hope will find them free of those symptoms for years to come, if not for life. Their mom is thrilled and has a message for other families dealing with sickle cell disease. “I want people to know that there is hope because I feel like with sickle cell, you're not promised a lot of hope.”

 

Jaroscak said this is a pivotal time in the field of sickle cell treatment. “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.”

While the gene therapy Ashanti got is still in the clinical trial stage, the Food and Drug Administration has approved two other gene therapies, Casgevy and Lyfgenia, for people age 12 and up. “We are a qualified treatment center for both,” Jaroscak said.

“We have two patients who are currently approved, two patients who have signed consent and another patient that's going to sign consent at the end of this month. So we've had success in getting their treatment approved through insurance, and insurance should cover them because they're very effective treatments.”

Haplo transplants like Dontrell got are an option in some cases, too. Another MUSC Health patient is on track to become the second person in the state to get a haploidentical stem cell transplant for sickle cell disease.

Yates, Dontrell’s and Ashanti’s mother, is ready for the two to live life to the fullest on spring break in Florida. “We don't have to look over our shoulder and wonder if sickle cell is going to attack today.”