Swimming and Snowmen: A New Life for Preteen With Sickle Cell Disease

Gene therapy freed Aba from chronic pain and helped her imagine a new future

This winter, 12-year-old Aba is excited to do something that she has been dreaming about for years: play in the snow.

Aba was born with sickle cell disease, which causes red blood cells to become sticky, firm, and C (or sickle)-shaped, instead of flexible and round. The sickle-shaped cells clump together so blood can’t flow to tissues and organs and deliver oxygen, causing intense pain. Pain crises can be triggered by cold temperatures, so Aba couldn’t even go swimming except on the hottest of days, let alone visit the snow.

Now that’s all changing thanks to gene therapy, which transformed Aba’s sickle cell disease after a lifetime of pain.

Aba was born in Haiti and was living in an orphanage when she met Adriane, her adoptive mom. Aba said she liked living there and playing with the other kids.

Adriane was in Haiti volunteering at the orphanage when she met Aba.

“During that time, she didn’t have good medical care; she’d had a stroke and was really sick,” Adriane said. “She’s always been very quiet, and those are the kids I’m drawn to; I like reading with them or doing a puzzle. Aba slowly opened up to me and finally started smiling. The director of the orphanage said she’d never seen her smile. Moving there to adopt was not in my plan—I was 30 and single. But I just met her and the rest is history.”

When the COVID-19 pandemic hit, Adriane and Aba moved to Northern California. They found a tight-knit community of people Aba knew from Haiti. As pandemic restrictions started to lift, Aba was able to attend school for the first time. 

Aba also started seeing a pediatric hematology team at her local hospital. Fortunately, Aba was now living in an area with enough medical resources and hematology experts for her to receive the standard care offered to most patients with sickle cell disease.

Aba was doing well all around; she was healthy, and she was making lots of friends at school.

Then, an accident during gym class at school unraveled everything. Aba got hit on the side of her head with a ball and ended up with a partially detached retina. After surgery to correct it, Aba started having migraines several times a month. The pain was so severe that she often ended up in the emergency department, despite taking several pain medications.

She also started getting more viral infections, including a cold that turned into pneumonia. She was hospitalized during Christmas and received a blood transfusion because her hemoglobin levels were low, making it difficult for her red blood cells to carry oxygen throughout her body. In the hospital, she suffered through her first pain crisis since her previous stroke. She started getting red cell exchanges, where sickle-shaped red blood cells are filtered out of her blood and replaced with healthy red blood cells from blood donors, every few weeks.

“Even with that, she’s been in the hospital constantly due to severe pain and headaches,” Adriane said. “If we got out in a week, it was a miracle. And every time we got out and got her to a place where she could function, we were waiting for the next time the weather changed, it rained, or any random thing, and we’d end up back in the hospital.”

That’s when Aba’s care team started talking about gene therapy. The U.S. Food and Drug Administration had approved a gene therapy called Lyfgenia for people 12 and older with sickle cell disease. Aba was referred to Lucile Packard Children’s Hospital Stanford for the treatment.

“We had the gene therapy available, and her symptoms were so severe, we didn’t think she could wait for her local hospital to have access,” said Tami John, MD, the director of Clinical Gene Therapies at the Bass Center for Childhood Cancer and Blood Diseases and one of Aba’s doctors. “I have a great relationship with Aba’s hometown care team, allowing for regular discussions about her care all along the way, even from a distance.”

Still, even with the detailed handoff, Aba and her mom were naturally apprehensive about coming to Stanford and meeting an entirely new care team, after they had forged such strong relationships with Aba’s local team.

“Aba was really close with a lot of nurses at the other hospital where she had been treated, so she and her mom were nervous, but Aba and I just clicked right away when she came in for the first time,” said Charlotte Musgrove, RN, a nurse on the inpatient gene therapy unit who cared for Aba throughout her time at Stanford. “We were able to create such a strong relationship. When she first came to Stanford, she was super-shy, so it was really special to see her personality come out.”

Adriane also started to feel more of a connection with Aba’s care team at Stanford.

“We had a genuinely great experience at Stanford,” she said. “It was hard leaving our team, but there were so many times I thought, ‘I cannot imagine being anywhere else right now.’ Stanford has so many teams who have been through this process and know what it looks like. We felt genuinely safe and cared for.”

The process started when some of Aba’s blood-forming stem cells were collected in a process called apheresis. Then, working copies of the beta-globin gene were added to Aba’s blood-forming stem cells. In people with sickle cell disease, the beta-globin gene is defective, which leads to the sickle-shaped red blood cells. Adding working copies of the beta-globin gene helps the body make red blood cells that are round, not sickle-shaped.

In the meantime, Aba received chemotherapy to clear the stem cells out of her bone marrow to make room for the newly modified stem cells. At first, Aba didn’t feel the effects of the chemotherapy. Then came the infusion of Aba’s gene modified blood-forming stem cells. These cells are specific to Aba and can only be used to treat her.

“It’s a very surreal experience because emotionally and mentally you know what’s happening, but it’s also so anticlimactic,” said Adriane. “It’s just 20 milliliters of clear fluid in a little bag, and it only takes five minutes to infuse. Years and years and years of buildup and trauma, and it changes in a five-minute experience—it’s very strange.”

After Aba’s modified cells were introduced back into her body, they settled into her bone marrow and slowly started producing normal red blood cells. But the side effects of chemo started to pile up. Knowing her history with pain, Aba’s care team had developed a detailed pain management plan, but it was still a very difficult time for Aba.

Due to the chemotherapy needed to prepare her body to receive the new blood-forming stem cells, Aba battled mucositis, or mouth sores, as well as nausea and vomiting. She lost her hair, to which she had added pink and purple braids before arriving at Stanford. A potential blood clot scare led to painful injections of a blood thinner two times a day. But the worst side effect was also the last to show up: Aba’s skin started peeling. She had to endure extremely painful dressing changes several times a day and had to get back on some of the pain medications she had stopped.

“That was really difficult, trying to navigate the pain involved with her skin peeling,” said Angela Chong, PA, a pediatric physician assistant on the gene therapy team who cared for Aba. “I would say, ‘The best medicine is time, and the cells need to grow and mature for her skin to heal.’ Once the cells started growing, that is when Aba started feeling great.”

As Aba’s immune system started to rebound after the chemo and her new blood-forming stem cells gained a foothold, her symptoms slowly improved.

“You’re just watching her come fully back to life,” Musgrove said. “We’d play this game where I’d go into her room and she’d pretend to be asleep, and then she’d roll over and start tickling me. And when she got her strength back, she’d hop out of bed, put her feet on my feet and we’d dance around the room. We even had pillow fights at the very end. I thought, ‘OK, she’s ready to get out of here, she’s feeling good.’”

Another one of Aba’s main nurses, Judy McNabb, RN, remembers a range of moments with Aba, from holding her hand when she wasn’t feeling well to talking about The Great British Bake Off, complete with a British accent, to playing basketball in Aba’s room when she was feeling better.

“I always made it a point to do something that would get her to smile for a hot second at least,” McNabb said. “As I found out really quickly, Aba loves to do these dramatic eyerolls. Her mom reassured me that the eyerolls meant she liked me. Any little connections that I could make with Aba helped me care for her better.”

In addition to her enjoyment of music and art therapy, Aba’s care team was impressed by her dedication to attending school via Zoom throughout her hospitalization.

“There was a sign on her room door with the hours of her schooling each weekday, and our team tried to respect her school time and avoid entering her room or interrupting during those times,” said Lizzie Callard, PNP, a pediatric nurse practitioner on the gene therapy team who cared for Aba. “Adriane was instrumental in encouraging Aba to take part in school, especially when she wasn’t feeling her best. I believe that it not only helped provide some structure to her day, but also allowed her to remain connected to her ‘normal’ life and gave her a reason to get out of bed and get dressed in her own clothes.”

Six weeks after transplant, Aba was discharged, and two weeks after that, she was allowed to return home.

By multiple measures, Aba’s gene therapy has transformed her health and her life. Now her blood is mostly made up of healthy, round, and flexible red blood cells that don’t deform to the sickle shape like they did when her body was stressed. Most important, her symptoms have also improved dramatically—no more migraines or pain meds.

Aba had also struggled to grow and maintain her weight for several years, and she needed a nasogastric tube to help her get enough calories. But now, Aba is eating and maintaining weight on her own. Several of her nurses swore she’d grown a few inches when they saw her at her most recent follow-up visit.

When she got home, Aba was excited to play with her cats, Bella and Skye, and she wants to add a new kitten to the family. She spent the summer playing with her friends at the Boys and Girls Club summer program—and she could finally participate in any water activities she wanted.

This fall, she’s back in school and enjoying her favorite activities, like dance, theater, tumbling, building with Legos, and doing art projects. And of course, this winter, Aba will get to experience sledding, snowmen, and snow angels for the first time.

“We were driving down to Stanford for the first time and I said, ‘This is going to be tough,’” recalled Adriane. “Aba said, ‘Yeah, but it will be worth it because I can go to the snow.’”

For Adriane, it was hard to envision Aba living a life without sickle cell disease.

“Adriane came in with the hope that we could change the course of Aba’s disease but really poignantly told me that it was hard to imagine a life that would be different,” Dr. John said. “It was a careful balance of coming in with hope and planning for a new lifestyle that they couldn’t even have imagined a few years ago. Things that Aba could never do, now we can reimagine what’s possible for her.”

For Aba’s care team, gene therapy represents a chance to provide this new future to many more children.

“This is just absolutely amazing that we can do this for kiddos with sickle cell disease,” McNabb said. “I have seen so many kids with sickle cell disease suffer for so long, and we finally have something that can cure them.”

Adriane wants to reassure other parents considering gene therapy that they—and their kids—are strong enough to get through it.

“Going into it, I had a lot of fear and hesitation because I didn’t have context for it,” she said. “I knew it was going to be very hard, but especially with sickle cell you have already seen your kid go through so much that you have everything you need to get through this. I’ve seen her in pain before for long periods of time, not knowing if things would get better. With this, we knew we had to stick it out and it would get better, and it did. When you have sickle cell, you think this is how you think you’ll live for your entire life, and now for the first time you get to imagine a regular life. Your kid gets to have dreams without limitations.”

 Learn more about gene therapy.