Anyah, 13, and 11-year-old Cobus share the same friends and favorite games. They even share identical blood and immune systems. That’s because doctors at Cook Children’s in September 2024 infused a small portion of Cobus’ bone marrow into Anyah’s body in hopes of curing her sickle cell disease (SCD).

Anyah was born with SCD, a genetic disorder that bends red blood cells into a crescent shape. SCD can cause pain, anemia, stroke and other complications when those sickled cells get clumped up in the blood vessels.

Thanks to the healthy cells she received from her brother, Anyah now makes her own healthy red blood cells instead of abnormal ones. She doesn’t have limits on physical activity or need blood transfusions like she did before the stem cell transplant.    

“My favorite thing is that I don’t have sickle cell anymore. I’m able to do more things,” she said.

September is National Sickle Cell Awareness Month, a time to promote understanding and encouragement for the estimated 100,000 people in the United States who live with SCD. The Cook Children’s Sickle Cell Program follows about 600 patients with services including diagnosis, treatment, stroke screening, clinical trials and more.

Gretchen Eames, M.D., Medical Director of the Cook Children’s Stem Cell Transplant Program,  said Cook Children’s has done 67 transplants for patients with SCD since 1999. That statistic includes two young adults who received their own stem cells, also known as an autologous transplant, via a clinical trial involving gene editing, a leading-edge therapy.

Patients who undergo stem cell transplant with a matched sibling donor have a greater than 90% chance of being cured, Dr. Eames said.

“It’s a very big deal, very serious therapy, but the success rate is very high,” she said. “And if we can get a patient to be pain free, not needing transfusions, now they have a healthy outlook for the rest of their life.”

How did the process unfold for Anyah and Cobus? Both of them faced their challenges – including needles and nausea – with resilience and a cheerful attitude. Here’s their story.

Starting with Anyah

Anyah never experienced pain episodes from SCD. But at age 10 she had the first of two aneurysms when blood vessels ruptured in her brain. Anyah and her mom began traveling from their home in Killeen to see the Stroke Clinic experts at Cook Children’s Medical Center – Fort Worth in 2023. 

That’s when hematologist Clarissa Johnson, M.D., who heads up the Sickle Cell Program at Cook Children’s, became Anyah’s SCD physician. While sickle cell disease can cause aneurysms, the location of Anyah’s aneurysms was unusual even for sickle cell disease. Extensive testing did not reveal a specific cause for them. Because sickle cell disease can also cause stroke and brain bleeds even without aneurysms, Dr. Johnson hoped that curing Anyah of SCD would protect her brain and prevent future damage related to sickle cell disease.

Neither of Anyah’s two brothers has SCD. They were potential stem cell donors – but each boy had only a 25% chance of fully matching Anyah’s tissue typing. Genetic tests showed that Cobus was a full match; younger brother Titus was a half match. The transplant was on.

“It really came down to this is the best method for her to have the best possible life and the least amount of trauma,” said the kids’ mom, Rachel Hastings.

If neither boy had been a match, the medical team could have pursued an alternative treatment, such as unrelated donor transplant. “But it’s complicated. We’re lucky we didn’t have to go through that path,” Rachel said.

Anyah underwent tests on her heart, ears, eyes and kidneys in preparation. One of her ovaries was removed to preserve her fertility. Then, for seven days right before the transplant, she underwent chemotherapy to wipe out her bone marrow.

“I describe it to parents like hoeing the garden, removing her cells and making a fresh empty garden for the new cells to take hold,” Dr. Eames said.

Chemo caused her hair to fall out and sores in her mouth. “I could barely speak. I didn’t eat for a few days. I was throwing up everywhere,” Anyah said. 

Another medication suppressed her immune system so that she wouldn’t reject the infusion of Cobus’ bone marrow. Meanwhile ….

Cobus Takes a Turn

Cobus didn’t get nervous until the day of transplant, Sept. 18, 2024. But he was also excited because he wanted to help his sister. “She’s there when I need help, and she’s always ready to defend me if she needs to,” he explained.

Cobus remembers playing a video game in his hospital room until falling asleep under anesthesia. A needle inserted into his hip bone withdrew about 1-2 teaspoons of bone marrow at a time, Dr. Eames said. The needle’s position had to be adjusted to avoid diluting the collection.

The procedure took about 30 minutes. Cobus then got to sit with Anyah in her room while his bone marrow was infused into his sister’s vein.

Donors typically report pain that feels like getting kicked in the back, Dr. Eames said. Their stem cell levels replenish within four to six weeks.

Cobus teases Anyah that he’s a hero, and their mom doesn’t disagree. Going through the transplant journey together created a unique brother-sister bond.

“Two peas in a pod,” Rachel said. “When they were younger, people used to think they were twins, and they’ve always been close as siblings. But I think this leveled it up.”

Back to Anyah

Cobus’ stem cells entered Anyah’s bloodstream through a catheter, like getting a transfusion. She was awake during the four-hour process.

“Those cells know where their home is, and they flow through the bone marrow cavities and know to stop there and set up house,” Dr. Eames said. “Just like when you plant a garden, it takes a couple of weeks for the seeds to sprout.”

Two to three weeks after transplant, signs will indicate that the new stem cells are growing. Patients can be discharged when their blood counts keep increasing and there’s no fever or infection. Anyah spent six weeks in the hospital and then stayed at the Ronald McDonald House under close monitoring during the acute recovery phase.

“There were moments when I was there to comfort her, to pray for her, to lift her up and hold her up,” Rachel said. “But there were also moments where she was like, ‘Do you need a hug Mom?’”

It was an empowering and inspiring highlight, Rachel said, when Anyah rang the bell to celebrate her discharge. They came home right before Christmas 2024. Anyah was prescribed almost 20 medications at first. Now she’s down to just aspirin, Vitamin D and a medication to control for iron overload. 

“It is really joyful news that she is now one year out from her transplant and doing so well, and at much less risk for complications,” Dr. Eames said. “Transplant outcomes have gotten better and better over the years. We have a very holistic team and wrap our arms around the entire family and support the sibling who’s the donor, support the parents and extended family.”

Anyah says she feels amazing. A Cook Children’s patient ambassador, she happily chats about the art activities, facility dogs and the kindness she experiences from hospital staff. She shared a bit of advice for other patients: “Keep the bad energy away. Keep the positive energy near you.”

Dr. Johnson said Anyah will continue to follow up with her stroke and transplant teams. But she’s considered cured of SCD. Dr. Johnson pointed out Anyah’s knack for looking on the bright side during the hard times, which included a hospital readmission for severe nausea. 

“She really was very minimal on complaining,” Dr. Johnson said.  “She would say, ‘My hair's starting to come out, but that's OK. It's going to grow back.’ She just radiates positivity. I don't know that I've encountered too many kids like her, considering the challenges she was facing.”

Families should know that the Cook Children’s Sickle Cell Disease Program offers a variety of therapy options depending on the severity of disease, Dr. Johnson pointed out.

“Our goal is to support your child to thrive and live the best life they can,” she said.

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Sickle Cell Disease: Leading-Edge Treatment Brings Hope
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Two Cook Children’s patients underwent gene-editing therapy for sickle cell disease (SCD) in 2024 through a clinical trial. The goal was to alter their DNA so that they start producing more fetal hemoglobin, which carries oxygen more efficiently than the misshapen red blood cells of a person with SCD.

One of the participants in that clinical trial, Ashlynn Malone of Little Elm, no longer experiences SCD pain since receiving a transplant of her edited stem cells at Cook Children’s Medical Center – Fort Worth in July 2024.

Before the transplant, Ashlynn often ended up in the hospital with a severe pain crisis. She had to be careful not to overexert herself, which tended to trigger the pain flare-ups. The severity of Ashlynn’s SCD made her a candidate for the RUBY Trial.

Thanks to that therapy last year at age 19, she’s now able to work, exercise and explore her passion for travel. Gene editing didn’t technically cure her disorder – but it has stopped the cycle of frequent pain episodes that was limiting her lifestyle.

“I can enjoy my 20s without having to worry about my health so much,” Ashlynn said. “I feel like my chains have finally been broken, and I get to do all the things I want to do.”  

An estimated 100,000 people in the United States have SCD, an inherited disorder in which red blood cells bend into a sickle shape, like the curve of a crescent moon. SCD causes pain, anemia, organ damage and other complications when those sickled cells tangle up in the blood vessels.

Cook Children’s hematologist Clarissa Johnson, M.D.  leads the Sickle Cell Program at Cook Children’s, which offers diagnosis, treatment, stroke screening, clinical trials and more.  

“It’s been encouraging in the last several years to see a lot more treatments that we can offer,” Dr. Johnson said. “Gene editing is a great example of how progress in science can improve the lives of patients. It’s also a great example of how the willingness to participate in clinical trials can help advance the field, because there had to be someone who said ‘I’m willing to try this’ when it was still very much an unknown.”

The RUBY Trial measured the safety and effectiveness of the experimental technology for editing genes of patients with SCD. Participants had their stem cells collected and sent to a lab on the East Coast, where the therapy manufacturer made tweaks to the cell composition. The next step was chemotherapy to make room for the body to receive the new cells. Then the participants received an infusion of their own cells edited to produce fetal hemoglobin – and healthier blood as a result. 

Departments across Cook Children’s played a role in the RUBY Trial, now concluded. The effort involved the research, apheresis, radiology, lab, pharmacy and hematology departments, along with the stem cell transplant physicians and team.

“Cook Children's involvement in the RUBY Trial has opened new horizons for gene editing therapy, offering hope and transformative possibilities for patients with sickle cell disease at our institution,” said Meg Moffer, coordinator of the Cellular Immunotherapy Program.

Dr. Johnson said gene-editing therapy is an exciting development that inspires hope for the future in SCD care. Every clinical trial involves risk along with the potential benefit, she pointed out.

“This has been a life-altering experience for the people who went through this clinical trial. I think they are pioneers to have the bravery to do that,” Dr. Johnson said. “As the clinician, I’m not the one who has to do the treatment. I can give the information, give the advice and encouragement, but they still have to be the person to say, ‘I’m going to give this a try.’

“To me that’s very brave, and I’m always very happy when someone takes that chance and the outcome for them is really good, which it has been for our patients.”

Ashlynn wanted to share her story as a tool to help educate the public about SCD. She urged patients to find out more about gene-editing treatment options.

“Do your research and look into it. It could be right for you. I’m happy that I went through with it,” she said. “I hope my experiences and journey through this treatment can help light up the way for other people who suffer from sickle cell.”  

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Whenever his lower back started to throb, Triston Tate knew a full-blown pain crisis was about to hit as a result of Sickle Cell Disease (SCD).

The pain would spread to his knee or arm, pulsing like a heartbeat. Prescription pain medication didn’t help. Episodes were severe enough to send Triston to the hospital on a regular basis.

Not anymore. Thanks to a research study underway at Cook Children’s and other sites nationwide, Triston received a particular type of genetic therapy for people with SCD. It isn’t a cure – but for Triston, the therapy has been life-changing. His cycle of pain and frequent hospitalization has stopped.

Back in September 2023, Triston’s health care team at Cook Children’s mobilized stem cells in his bone marrow to the bloodstream. Those stem cells were collected and sent to a lab on the East Coast, where the therapy manufacturer, Editas Medicine, Inc., made some tweaks in a process called gene editing.

Then in January 2024, Triston’s modified stem cells were ready. During an infusion at Cook Children’s, those cells entered his body to help make healthier blood.  

 “They took a part of me, made it better, then gave it back to me,” he explained.

The 22-year-old Burleson resident became the first patient at Cook Children’s to undergo the treatment as part of the RUBY Trial. The trial’s second patient at Cook Children’s received the therapy in July 2024, while three others have been approved to participate.

“The prior clinical trials and current experience have been very encouraging regarding the benefit of this treatment for our patients with severe sickle cell disease,” said Cook Children’s hematologist Clarissa Johnson, M.D.  “The focus on developing new treatments and improving current treatments gives us hope for the future in sickle cell disease care.”

The RUBY Trial measures the safety and effectiveness of an experimental technology for editing the genes of people with SCD. Enrollment for new patients ages 12 and up is closed. But the company anticipates recruiting patients 11 and younger, Dr. Johnson said.

Triston met the criteria for the RUBY Trial because he had one pain crisis after another. He estimates he was hospitalized at least 100 times. He couldn’t work or go to college. 

“It just got so bad,” he said. “I was hurting, taking pain medicine almost every day and being in the hospital every month for like two years straight. It was getting old. I needed to make something happen.” 

Still, he hesitated at first. He was reluctant to spend a month or so of recovery in the hospital, which the treatment requires. But Triston eventually signed on because he wanted fewer SCD complications. 

After his cells were collected and modified, they were shipped back to Fort Worth on dry ice.

Gretchen Eames, M.D., Medical Director of the Cook Children’s Stem Cell Transplant Program, oversaw the next step: chemotherapy followed by an infusion process that put Triston’s edited cells into his body, traveling to his bone marrow. 

“Patients require chemotherapy before the cell product infusion in order to ‘make space’ in the bone marrow for the manufactured cells to move in and take hold,” Dr. Eames said. “After four days of chemotherapy, the cells arrive frozen at the bedside and are then thawed out in a warm water thermal bath and then infused.”

Chemotherapy caused Triston’s throat to be sore, the only side effect of chemo he noticed. In the weeks after the transplant, he slept a lot, played card games with his mom, and passed the time on the PlayStation at Cook Children’s . He was discharged from the hospital once he could consistently create white blood cells and no longer needed frequent transfusions of red blood cells and platelets.

Like other participants in the RUBY Trial, he’ll be monitored by doctors for two years.   

Seven months later, Triston reports he’s not had another pain crisis. Now he has more energy, a job and can keep up with his friends. He described the treatment as simple, smooth and successful.   

“It works,” he said. “I don’t even take pain medicine anymore,” he said. “It’s a blessing I don’t have to go through that pain anymore.”

Dr. Eames said gene editing trials such as the RUBY Trial have been transformational in improving the quality of life and overall outcomes for patients with SCD. 

“We are so excited to be able to offer this exciting new cellular therapy here in Fort Worth, close to home for many of our patients -- and to be soon able to offer it to many more patients throughout Texas and our neighboring states,” she said.

FACTS ABOUT SICKLE CELL: 
September is National Sickle Cell Awareness Month. Here’s what you need to know:

• An estimated 100,000 people in the United States have SCD, an inherited disorder.
• A genetic mutation causes the red blood cells to curve like crescent moons rather than round discs.
• The cells get clumped up in the blood vessels instead of flowing smoothly, which causes pain and can lead to anemia, organ damage, stroke or other complications. 

RELATED STORIES:
 Clinical Trial Aims to Treat Sickle Cell Disease with Genetic Therapy

Eleven years ago on March 17, 2003, we were blessed with a beautiful baby boy names Ja'Kiyran McArthur, also known as J.T.

Two weeks after he arrived we received a letter from the hospital where Ja’Kiyran was born, stating he had a chronic blood disorder called sickle cell disease. We were panicked, scared and very young. At our first scheduled visit with Cook Children's Hematology department we were informed that in order for a child to have this disease both parents have to carry either the sickle cell trait or an abnormal form of hemoglobin.

Over the years we have endured countless medical center stays due to sickle cell crisis*, pain episodes, blood transfusions and antibiotic therapy. Often times, we felt hopeless and  therefore received counseling when he was 6 months old.

We have learned to take it one day at a time, remain encouraged and enjoy each good day he has. Our faith teaches us that love, positivity and believing in the miraculous conquers all.

Even though we are exhausted and financially strained when he becomes ill, we wouldn't trade our struggles or this amazingly smart young man for anything in the world. We are extremely grateful to Cook Children's for providing excellent care and showing us and our son love and constant attention. The nurses are amazing and make each stay feel like being at home. The physicians are consistent and persistent when it comes to getting him well.

Everyone works together to create a loving family and superb care. We thank God for our hospital family and their tireless efforts. We want to remind everyone to get informed about this disease and help us to raise awareness and find a cure for all who have to live with it every day.

Mrs. Ashley McArthur

For more information:

• Cook Children's Sickle Cell Center
• What is sickle cell disease?
• Who gets sickle cell?
• Sickle cell disease
• My friend has sickle cell disease. How can I help?