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.

RELATED STORIES:
Sickle Cell Disease: Leading-Edge Treatment Brings Hope
Screenings Aim to Prevent Stroke for Children with Sickle Cell Disease
Sickle Cell Disease Treatment Gives Toddler Fresh Start

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.”  

RELATED STORIES
Stopping the Pain: Genetic Therapy Treats Sickle Cell Disease
Clinical Trial Aims to Treat Sickle Cell Disease with Genetic Therapy

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

A recently approved drug is giving hope to younger patients living with sickle cell disease (SCD). Crizanlizumab is intended to reduce the frequency of pain crises and limit hospitalization in adult and pediatric patients ages 16 and older with  SCD. 

Patients of Clarissa Johnson, M.D., pediatric hematologist/oncologist and other SCD specialists at Cook Children’s have participated in the clinical trial to determine the dosage for pediatric patients for Crizanlizumab, the recently approved drug marketed under the name Adakveo.

“It’s an exciting time to be in sickle cell disease care,” Dr. Johnson said. “For the first time since 1995, we have options to offer our patients. The research pipeline for sickle cell is open and this new drug is a sign of the times.”

Pain crises are complex and associated with potentially life-threatening complications of SCD. Red blood cells of people living with the genetically inherited disease are sickle-shaped, similar to a crescent moon; and cells become stiff and sticky – adhering to blood vessel walls during circulation.

Healthy red cells are rounded and pliable, designed to flow smoothly through the body and supply oxygen along the way. When sickle cells clump together, they restrict blood flow and can ignite pain and inflammation. The pain can occur suddenly and with enough severity to require days of hospitalization and dosing of powerful pain medication to endure them.

Dr. Johnson’s patient, Kambri Gaut, has suffered pain crises with hospitalization. Her parents say there is little comfort for the pain when crises do happen.

“It gets to you. Especially as a man, you want to fix it and you can’t fix this,” said Kambri’s dad, Kevin Gaut. “Now that she’s older, she can tell you what’s wrong, and what works and doesn’t work.”

Fortunately, Kambri participated in the crizanlizumab clinical trial and experienced success.

How does the drug work?

Adakveo is a monthly IV infusion therapy. Dr. Johnson would prefer something less invasive, but it is an option for her patients.

Kambri visits the infusion clinic every 21-30 days and it can mean she misses some school. Her mother, Brandi, says Kambri does well in school and it is easier to make up missed classwork online.

“She has only been hospitalized twice in the last three years while participating in the trial,” Brandi said. “It is a commitment to meet with the research team and participate in the work they need for the clinical trial; plus, receive the infusions, but we’re used to it. I have no complaints and we plan to let her keep doing it.”

We asked Kambri if she has signals when she might experience a pain episode. “The weather – when it is raining and cold,” she said. “Mostly I live my life and I drink water a lot.”

“Some patients describe sickle cell pain as a glass-cutting feeling as the cells travel through the vessels,” Dr. Johnson said. “The new drug is a manufactured antibody that targets markers on white cells that make the red cells sticky; it disrupts the clumping of the cells together which is what contributes to the greatest pain.”

Living with sickle cell disease

The 13-year-old definitely lives life to the fullest. Kambri is a cheerleader, plays volleyball, and has danced since she was 6 years old. She ran track and played basketball.

“We let her do what her body allows,” Brandi said. “If she can, she can. If not, she won’t.”

The Gauts work diligently to ensure Kambri has a support team wherever she goes. Before each school year, Brandi shares with the school nurse, a handbook about SCD that Cook Children’s and Dr. Johnson provide to patient families. The nurse, at Kambri’s new school in Cleburne, educated the coaches about Kambri’s condition and what the young athlete needed from them. The nurse explained triggers that signal SCD complications and the coaches even developed a plan, including non-verbal cues during games, when Kambri needs rest and more water.

Dr. Johnson says she prefers treating her SCD patients with Hydroxyurea, an oral medication that treats pain crises and a broader range of complications including anemia, which can be the main issue. Therefore, Dr. Johnson prefers her patients to try Hydroxyurea first and if it fails to control their pain crises, she sees Adakveo as an adjunct therapy.

“Some patients with SCD are not that anemic. This drug could be sufficient for them,” Dr. Johnson said. “We would prefer to have a [subcutaneous] form of the drug rather than infusion. We offered that feedback during the trial. The downside is researchers will not look into something like that when they have not completed the trial for infusion therapy.”

Clinical trials underway for younger patients

Currently, doctors at Cook Children’s are only treating about 20 patients with the new drug, out of the 400 patients in the SCD program and results are varied. Qualifying age and administration by infusion are limiting factors. Dr. Johnson says teenagers can have more of a say in their medication choices and some young adults like to try Adakveo even if they later decide the inconvenience factor is less attractive to them. Dr. Johnson believes the monthly infusions could be a drawback for younger children, but the clinical trial is ongoing to understand the effectiveness down to toddler age.

The new medication has provided relief to Kambri and her family. Besides the teen feeling well enough to compete in sports, we asked Kambri what else she enjoys.

“My favorite subject [in school] is science, learning about planets, chemistry, things like that,” she said. “I watch Netflix. I like being with friends and talking with friends on Facetime. Watching sports.”

“Even though this drug is not a panacea, it is great to have more in our medicine cabinet to treat sickle cell,” Dr. Johnson said. “This is more than a Band-Aid. Pain meds are a Band-Aid. This is a game-changer for us.” 

Learn more about sickle cell disease:

U.S. Centers for Disease Control and Prevention
Sickle Cell Disease Coalition
Sickle Cell Disease Association of America, Inc.

Sickle Cell Awareness Month is recognized each September. For many of the more than 100,000 Americans living with the disease, acute painful episodes and chronic pain happen year-round. As if living with sickle cell disease (SCD) isn’t tough enough, they often face stigmas that come with fighting the disease.

People with SCD suffer from sickle cell pain crisis. These symptoms can lead to absenteeism from both school and work. This may create a false impression that the person with SCD is “lazy.”

Twelve-year-old Daylen Parrish, a patient at Cook Children’s Medical Center since 2009, understands both the pain and stigmas all too well. He was 10 days old when his family first met Clarissa Johnson, M.D., a hematologist/oncologist and lead physician at Cook Children’s Sickle Cell Program.

Daylen’s mother, Erikah, says they met Dr. Johnson on her first day of work at Cook Children’s, and though that moment was scary, that wasn’t where their story began.

Erikah and her husband both carry the sickle cell trait, which one in every 13 Black or African American children are born with. Since they were aware they were carriers, the couple had conversations about not having children because they knew their child would likely be born with SCD. They were surprised when they found out they were expecting and knew they had a long road ahead of them.

Daylen spent the first few years of his life in and out of Cook Children’s.

“It became our second home,” Erikah said. “We were there eight to 10 times throughout the year. It was hard as a mother because when he was young and couldn’t speak, I didn’t know if he was crying because he was a baby or because he was in pain.”

She says one thing that she vividly remembers is the learning curve and the hard days of ‘trying to get it right and figure things out.’

Erikah says Dr. Johnson was good to her family from the very beginning.

“I remember her telling me we were going to try everything we could to make sure Daylen lived as normal as a life as possible,” she said.

“I've been managing his care since he was a newborn,” Dr. Johnson explained. “His parents have always been very receptive to any sort of new therapies that are out there and they just want what’s best for him. We all want what’s best for him, and want him to live his life, even with SCD.”

Daylen would agree Dr. Johnson has kept her promise to do just that.

“I love being at Cook Children’s,” he said. “It’s like a hotel, and better than being at school, except the pain part. But it’s a nice break, who wouldn’t like a break with good food?”

As Daylen has gotten older, his trips to Cook Children’s have become less frequent, but he’s faced new challenges.

“I can’t do what my other friends can do at school,” Daylen explained. “Sometimes at recess, I have to stop and take a break. Or if I am playing with my friends outside, I have to stop a lot.”

Daylen says this is because he becomes tired and cannot push his body to keep going like the rest of his classmates or friends. He says this has been hard for him because sometimes he feels like he doesn’t fit in and can’t do the things others can do.

Erikah says she is proud of her son every day for his fight through daily tasks and SCD episodes. Additionally, she says Daylen has the most supportive and kind friends that anyone would be blessed to have and she is thankful for them being inclusive to her son. 

Another challenge Daylen faces is the daily medications and doctors’ visits that he says other kids don’t have to go through.

“He takes hydroxyurea, which is one of the common therapies that we use for patients with sickle cell,” Dr. Johnson explained. “Generally, that has worked out well for him. There's a newer drug, not FDA approved yet for his age, but he was able to participate through a clinical trial and is receiving that, and that does seem to potentially be offering him some benefit also.”

Daylen says he understands the importance of having to take his medications, go through clinical trials and attend his doctor’s appointments, but he hopes for a day when things can be normal for him.

“All the doctors and nurses have become family to us,” Erikah said. “From day one, I have never felt alone at Cook Children’s and have met other families who have children with SCD and it has made this process so much easier for us. We are grateful for Cook Children’s.”

“I love the doctors and nurses at the hospital,” Daylen said. “I am glad they help me when I am sick.”

Dr. Johnson says fostering those relationships with patients and patient families is important.

“It helps when you have a relationship with a family, to be more of a partner in care,” Dr. Johnson said. “There is built-in trust there when you’ve been with a family through multiple scenarios, so it helps when you have a relationship.”

Daylen and his family are hopeful there will one day be a cure for SCD, but until then, they will continue their fight and share their stories to encourage others.

For more information on SCD, listen to Dr. Johnson on “Unraveling the Complexities of Sickle Cell Care” on Cook Children’s Doc Talk podcast.

What is sickle cell disease (SCD)?

Sickle cell disease (SCD) is an inherited blood disorder in the United States. It causes the body’s red blood cells to harden and become shaped like crescents, or sickles, instead of resembling healthy, round discs. Sickle cells can get stuck in small blood vessels and block the flow of blood and oxygen to organs in the body. These changes in cells can cause repeated episodes of severe pain, organ damage, serious infections, or even stroke. A person with SCD is born with it. People cannot “catch” SCD from being around a person who has it.

This serious disorder is most common among people whose ancestors come from Africa, South and Central America, the Arabian Peninsula, India, and Mediterranean countries, including Turkey, Italy, and Greece. In the U.S., it is especially prevalent in the African American population, where an estimated one in 500 people has the disease. This often-invisible and rare disease impacts over 100,000 people— most of whom are of African descent and will require regular blood transfusions to help manage their disease.