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

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

Sickle cell disease (SCD) can cause damage to blood vessels in the brain, putting children as young as age 2 at risk for stroke.

That’s why patients with certain types of SCD need preventive screenings called transcranial doppler ultrasound. The ultrasound measures how fast blood is flowing in the brain’s arteries, an indicator of stroke risk.   

SCD is a genetic disorder that causes red blood cells to be sticky, stiff and sickled – shaped like crescent moons, in other words. Sickled cells don’t move easily in the blood vessels, which causes pain and possibly anemia or stroke. Sickle cell disease affects people of African, Central and South American, Middle Eastern, Asian, Indian and Mediterranean descent. An estimated 1 in 365 Black newborns have SCD, a lifelong condition.

September is National Sickle Cell Awareness Month, a time to highlight the tools to treat children and teens with the disorder. Cook Children’s serves about 400 patients with SCD. About 5-10% of that population have the genes that make stroke more likely. They need ultrasound screenings at least once a year from age 2-16.

“The main patients that we are concerned about with stroke are the patients who have hemoglobin SS and sickle beta-zero thalassemia, which are severe types of SCD,” said Cassandra Wallace, RN, BSN in the Hematology and Oncology Center at Cook Children’s. “Those patients typically have a higher percentage of sickled cells and more damage done to the blood vessels in the brain. That’s what causes the changes to the blood flow and puts then a higher risk for stroke.”

Hematologist Clarissa Johnson, M.D. heads up the Sickle Cell Program at Cook Children’s, which includes testing, diagnosis, treatment and research. Ultrasound screening is one component of the program.   

Dr. Johnson said the ultrasound screenings allow the medical team to intervene before a stroke happens. Depending on the results of the ultrasound, the medical team might order further tests, adjust the patient’s medication, or start the patient on monthly blood transfusions. If the blood flow is normal, the ultrasound will be repeated in a year.

Screening for Stroke

Most SCD patients at Cook Children’s get their screenings done at the Dodson Specialty Clinics building. It’s a painless process that typically takes about 30 minutes.

Technicians target specific blood vessels on both sides of the patient’s head to measure the rate of blood flow. If inflammation has caused the vessels to narrow, the blood flows faster.

Dr. Johnson says ultrasound results fall into three categories:

• Normal
• Conditional yellow zone (slightly high rate)
• Elevated red zone (high rate)

Depending on what the ultrasound finds, follow-up care might include getting an MRI, starting on a medication, or adjusting the dose. Another treatment option is monthly blood cell transfusions to lower the percentage of sickled cells. 

Wallace said Cook Children’s keeps track of when SCD patients are due for their next ultrasound as part of their ongoing checkups. What’s the outcome? Better management of stroke risk.

“The changes that occur in the brains of sickle cell patients are not visible,” Wallace said. “We do the screening to pick up on minute changes that we may not otherwise see had we not done the transcranial doppler.”

Know the Signs

Another component of SCD care at Cook Children’s is educating patient families about the warning signs of stroke. A stroke occurs whenever the blood supply to the brain is disrupted, causing a loss of oxygen. It can happen at any age. The damage can be permanent.   

Sometimes a stroke happens “silently” and can only be detected later by MRI. Silent strokes occur in as many as 39% of children with SCD before they turn 18, according to the American Stroke Association. Silent strokes can cause learning difficulties and other cognition problems.

Overt strokes, meanwhile, cause slurred speech, facial droop, weakness in the arms and legs, difficulty walking and confusion. If your child has these symptoms, call 911.

“We try to push the parents to know that ‘Time is Brain.’ We want them to remember that it’s very important that they seek treatment right away to save as much brain tissue as we can,” Wallace said.

To spot the signs of stroke, remember the acronym BE FAST:

Balance - Is there a sudden loss of balance or coordination?

Eyes - Is there blurred or lost vision?

Face - Is one side of the face drooping or numb?

Arm - Is there weakness, numbness or loss of movement in the arms, legs or one side of the body?

Speech - Is speech slurred?

Time - If you or someone you know is experiencing any of these symptoms, call 911 immediately.

The most important thing to know is that strokes happen in children. If something is different or off about your child, seek emergency care.

Related Stories:

Teen Survives Life-Threatening Sickle Cell Crisis 

Fighting The Stigmas: Meet Daylen, the Sickle Cell Warrior

New Therapy for Battling Sickle Cell Disease Gives Hope to Younger Patients

When the Ray family embarked on a cruise in April to celebrate Caleb Ray’s 18th birthday, their focus was on celebrating a milestone, not the sickle cell disease Caleb has lived with since being diagnosed shortly after birth. 

Towards the end of the cruise, Caleb developed a fever and began to experience pain. The family knew the pain was likely associated with sickle cell, but none of the normal remedies Caleb used to treat a sickle cell pain episode gave any relief. After disembarking and arriving home, his pain grew so severe that his family took him to the Emergency Department (ED) at Cook Children’s Medical Center where he was admitted to the hospital.

Shortly after, Caleb’s lungs, liver and kidneys began to fail. He was transferred to Cook Children’s Pediatric Intensive Care Unit (PICU) where he was placed on a ventilator to support his breathing, and continuous dialysis to rid his body of the buildup of toxins from kidney failure. His prognosis was grim. 

A Viral Trigger

A battery of tests revealed that Caleb’s life-threatening sickle cell crisis was triggered by a common childhood virus called Epstein-Barr (EBV). Many people are infected with EBV in childhood and experience little to no symptoms. In some cases, EBV can lead to infectious mononucleosis, also known as mono, according to the Centers for Disease Control. Healthy teens and adults who contract EBV and have symptoms usually recover within a few weeks. But for those living with SCD, any virus, even those that are common and typically mild, can trigger serious complications.

“The Epstein-Barr virus triggered something called EBV-induced sickle hepatopathy,” said Clarissa Johnson, M.D., hematologist and SCD specialist at Cook Children’s. “Essentially, that is a condition where you can develop acute liver failure, which he did. And when you develop liver failure, it can affect other organs, including your kidneys.”

Caleb also developed acute chest syndrome, a severe lung-related complication of SCD and one of the leading causes of death in individuals with sickle cell, according to the American Lung Association. In acute chest syndrome, sickled cells block vessels in the lungs, leading to a pneumonia-like illness.  

“Any one of those organ systems getting critically ill can result in a person's death, particularly a sickle cell patient,” said James Marshall, M.D., a pediatric intensivist at Cook Children’s. Dr. Marshall cared for Caleb while in the PICU. 

Caleb’s mother, Stephanie Ray, and grandmother, Tracy Ray, kept constant vigil at his bedside. 

“I didn't know how he was going to come out of it,” Tracy said. “They were talking about his kidneys not working and possibly needing a transplant. It was just all horrible news. I just kept telling Stephanie and my family that we can't be moved by what we see, but stand on what we know and we know that God can heal.”

Caleb underwent a number of supportive treatments and therapies while in the PICU, including an exchange transfusion to quickly reduce the percentage of sickle cells in his body and prevent further damage to his organs. A host of medical specialists, including Dr. Marshall, Dr. Johnson, nephrology, pulmonology and many more, closely collaborated on Caleb’s case.

“Part of our method of caring for critically ill children at Cook Children’s is to freely bring in subspecialists to focus on specific organ system disorders with the critical care doctors kind of quarterbacking the team,” Dr. Marshall explained. “In most intensive care unit settings for children, the critical care doctors run it all with advice from the subspecialists. But we work as a team, so there's not someone telling the others what to do. It's a bunch of us getting together and pondering the patient, day and night, thinking of the best combined strategy.”

With the support of his family and care team, Caleb overcame the odds against him and was discharged from the hospital on May 25, one month after he was admitted to Cook Children’s. 

“All patients like Caleb would have not survived,” Dr. Marshall said. “But his whole body and mind all wanted to get better. I was with him when we took out his breathing tube and let him wake up and was able to learn more about his personality. He was just as cheerful and vigorous coming out of the dark, dark night of critical care as any young man that I would meet. So a strong spirit and a positive approach to life, particularly when you have something that’s going to be with you for life, like sickle cell disease, is just absolutely required to get through the low spots.”

Lifelong Care

Sickle cell disease (SCD) is an inherited blood disorder that affects the body’s hemoglobin, or the protein in red blood cells that carry oxygen throughout the body. A mutation in the hemoglobin gene causes red blood cells to be sticky, rigid and shaped like crescent moons, or sickles, instead of round, flexible and flowing easily through the blood vessels like normal red blood cells. Sickled cells can clump together and block the flow of blood, resulting in inflammation and pain from decreased oxygen to the organs. Sometimes the pain can be so severe an individual requires hospitalization, like in Caleb’s case. 

September is National Sickle Cell Disease Awareness Month. An estimated 100,000 people in the United States have SCD. It primarily impacts people of African descent, those from Central and South America, and people of Middle Eastern, Asian, Indian and Mediterranean descent. 

There are several types of SCD, the most common being Hemoglobin SS, usually referred to as sickle cell anemia. Caleb has Hemoglobin SC, the second most common type of SCD. Hemoglobin SC has similar symptoms as SS, although sometimes less severe. Symptoms can be mild throughout childhood but worsen with age. 

“Some of our families whose children have SC may think that their child is not at risk for problems and that is not true,” Dr. Johnson said. “People with SC don't tend to be the ones who are in the hospital the most and they don’t tend to have some of the more severe complications that we see, that's going to be our SS patients, but the older someone gets with SC disease, they can begin to have more problems.”

That’s why Dr. Johnson says it's important for Hemoglobin SC families to stay engaged with their doctor and their care throughout childhood and adulthood. 

Family Focused

While SCD limited Caleb’s ability to play some sports while growing up — over-exertion and dehydration can trigger SCD pain episodes — it hasn’t stopped him from living life to its fullest. The key, he says, is to take things “day by day.” That’s what his family did during his latest health crisis, although his grandmother said it was more like one prayer at a time.

The Ray family points to the doctors, nurses and staff who cared for Caleb as contributors to his healing, too. They say everyone from the medical providers to food service and the housekeeping teams were dedicated to Caleb’s care and to making them feel like family.

“We cannot thank them enough,” Tracy said. “They touched us in a special way. I mean, we’re a  Black family and most of the staff were white. We never felt any kind of resistance at all, and that's just not the life that we live. But those nurses took care of Caleb like he was theirs. They were so respectful. Even when he was intubated, when they would have to move him or lift him, they talked to him like he was a human. It was just beautiful.”

Dr. Marshall gives the credit right back. 

“His family’s membership in our health care team was really fabulous. How they interacted with the health care team was a model for other families.” Dr. Marshall said. “The family was always there and always present. They were always pleasant despite the tenseness of the situation. I think the point really is that a collaborative family can make patients better. Not just be there, but literally take part in the patient's care and help them heal. And his family was a great example of that."

Today, Caleb is looking ahead to the future. He will soon begin coding courses in hopes of becoming a computer software coder. 

“One thing that I admire about Caleb is his resilience,” his mother said. “I think that throughout the whole thing, he's always kept his positive attitude. He's always been a happy kid. He handles it better than we would for sure. He’s not angry. He's not bitter. He just rolls with the punches.”

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.

Four-year-old Winnie Babalola smiles all the time and talks nonstop. But it wasn’t always that way.

Diagnosed with Sickle Cell Disease at two weeks old, Winnie faced a condition that can cause damage to organs and intense pain episodes. She began treatment at the Cook Children’s Sickle Cell Center where the hematology team followed her. “Every time Winnie had a fever or got sick, she needed to be in the hospital for several days of monitoring,” said Ademilola Awoyemi, Winnie’s mom.

Bone Marrow Transplant Brings Hope

In 2019, Winnie landed in the hospital where doctors discovered her spleen was markedly enlarged, requiring a blood transfusion. Soon after, the family met with Richard Howrey, M.D., associate medical director of the Stem Cell Transplant Program, to discuss curative therapy for 10-month-old Winnie. The family decided Winnie would undergo a bone marrow transplant after discovering Winnie’s brother, Wisdom, was a perfect match.

“The goal of a transplant is to wipe out her diseased bone marrow that only makes sickle cells and replace it with healthy bone marrow essentially curing her of Sickle Cell Disease,” Dr. Howrey said. 

Transplanting patients early in life helps to prevent long-term complications, according to Gretchen Eames, M.D., M.P.H., medical director of the Stem Cell Transplant Program. Those who do not undergo transplants have a much harder time in adulthood with access to healthcare, insurance issues and difficulty navigating a chronic disease. They also have a shorter life expectancy due to progressive complications of Sickle Cell Disease

Journey to Healing

Because of the pandemic, Winnie’s transplant was delayed until June 2021 when the process began with surgery to place a central line. She then received chemotherapy over the span of a week before the transplant. During the first phase of the transplant, Winnie experienced the typically expected side effects including severe mouth sores which required IV narcotics for pain and a feeding tube to maintain nutrition, along with multiple transfusions for low blood counts.

“Transplant comes with risks, and Winnie experienced a few complications including thrombotic microangiopathic anemia (TMA) which caused high blood pressure and a breakdown of the red blood cells,” Dr. Howrey said. “We adjusted her medications and gave her a specific medication which targets the pathway that causes TMA and thankfully, she had a great response.”

Throughout all of this, Ademilola said everyone at Cook Children’s helped her to focus on taking it one day at a time.

“From day one, the doctors and nurses were tremendous and gave Winnie the best treatment,” Ademilola said. “It was hard, but they really brightened our days.” 

Winnie was discharged two months after her transplant, has continued to do well, and is now fully recovered.

Brighter Days Ahead

The prognosis of patients with Sickle Cell Disease who undergo matched sibling bone marrow transplants is very good, with a survival rate of about 95%. Having a matched sibling was a great advantage for Winnie. Compared with other types of bone marrow transplants, matched sibling transplants have a lower risk of graft versus host disease, which is when the donated bone marrow attacks the body.

Winnie’s young age and lack of other complications such as stroke or end organ damage prior to transplant was another factor in her favor.

“Now Winnie is off all medications and doing great,” Dr. Howrey said. “Her immune system has fully recovered. I fully anticipate Winnie will be cured from Sickle Cell Disease.”

Ademilola said the bone marrow transplant changed their lives. Last month, Winnie walked into school for the first time, and the preschooler couldn’t be happier.

“Winnie is a fighter,” Dr. Eames said. “Providing life-saving therapy and carrying patients like Winnie through this journey to a successful outcome is very rewarding.”

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. 

The audience can’t see the battle that may be raging inside her as she moves to the music. At any given moment, a clump of red blood cells—misshapen by Sickle Cell Disease (SCD) into crescents that can block blood flow and oxygen from reaching parts of her body—may cause an acute “pain crisis” in her chest or back or legs or arms. The pain has been described by some SCD patients as feeling like being stabbed repeatedly with knives or having bones inside the body broken over and over again.

It can be intense. But, still, Kambri dances on.

“It helps as a distraction,” the 12-year-old says in a soft voice during a recent telephone interview. “I’m not really thinking about the pain.”

Brandi Gaut, Kambri’s mom, says her daughter doesn’t “wear the pain on her face” and doesn’t want to let down her dance team. She remains active, even when it hurts, her mom says.

“One thing about Kambri—you know, they use the term ‘sickle cell warrior’—I would definitely use that to describe my daughter. She’ll go to dance (class) hurting,” Brandi says. “And she’ll be like, ‘No, I want to dance.’ The hematologist always told us, let her do what she feels like she can do. Let her make the decision.”

“There have been times when she has danced in a recital, and as soon as we finish the recital, we literally leave there and go straight to Cook Children’s. She’s done that two or three times,” says Brandi, a Crowley resident who sits on the board of Carol’s Promise Sickle Cell Foundation, a North Texas group that works to educate others about SCD and advocate for those who have it.

Kambri is one of millions of individuals around the globe, including about 100,000 Americans, affected by the complex blood disorder that interferes with the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen to the body. World Sickle Cell Awareness Day, observed annually on June 19, is an international event designed to educate the public about the challenges those living with the painful disease face, as well as raise awareness for possible treatments and funding for research.

“We only think of what we see in the United States…but this is really a global disease,” says Dr. Clarissa Johnson, M.D., a hematologist/oncologist and lead physician at Cook Children’s Sickle Cell Center, which treats about 400 patients throughout Texas each year. Dr. Johnson is actively involved in sickle cell research and has participated in several medical mission trips to countries, including Nigeria and Ethiopia.

“It affects people’s ability to have a meaningful life and their contribution to society if they’re greatly affected by the disease and limited in their ability to reach their goals,” she says. “It’s a chronic illness, it’s a lifelong illness, and it can also shorten the lifespan.”

SCD is a genetic condition in which a child receives two sickle cell genes, one from each parent. It’s estimated about 3 million people in the United States are carriers of the sickle cell trait even though they don’t have the disease. If each parent carries the trait, there’s a 25 percent chance their child may be born with SCD.

Worldwide, about 300,000 infants are diagnosed with SCD, most of them with African ancestry, according to the Sickle Cell Information Center. Of those children, 75 percent live in Sub-Saharan Africa. Without newborn screening programs and early detection, 50- to 90-percent of those children will die before the age of 5, the international organization reports.

Among the misconceptions of the disease, one is that SCD only affects those with African ancestry. Although the number of SCD patients of African-decent is highest, other populations are affected, including Hispanics from the Caribbean Islands, and Central and South America; East Indians; Middle Easterners; and those of Mediterranean decent.

Different types of SCD exist, depending on the traits inherited. The Center of Disease Control lists the following as the most common forms:

• HbSS—commonly known as “sickle cell anemia,” in which an individual inherits two sickle cell genes “S,” one from each parent. This is usually considered the most severe form of SCD.
• HbSC—an individual inherits an “S” gene from one parent and another gene from the other parent for an abnormal hemoglobin called “C.” It’s considered a less severe form of SCD.
• HbSbeta thalassemia—an individual inherits an “S” gene from one parent and another gene for thalassemia, a type of anemia, from the other parent.

Patients with SCD, depending on the type they have, may experience jaundice of the eyes or skin; anemia; sudden pain in various parts of the body; delayed growth; facial bone deformities; enlarged spleen; gallbladder disease; damage to kidneys, lungs and other vital organs; stroke; and bacterial infections. These conditions can be mild or become quite severe, depending on each individual’s case.

As it stands, there’s no universal cure for SCD, Dr. Johnson says. A bone marrow transplant (also known as a stem cell transplant) can cure the disease, but finding a perfect match is difficult and recipients may suffer serious complications after the procedure, she says.

Right now, managing the symptoms seems to be the best approach. For most SCD patients, that means staying hydrated to keep their blood healthy (promoting blood flow), getting enough sleep, eating a nutritious diet, staying up-to-date on vaccinations, maintaining a healthy body temperature (staying warm when it’s cold and cool when it’s hot) and exercising.

Medications, such as hydroxyurea (originally created to treat leukemia), also are used to help reduce the frequency of painful episodes and lower the number of blood transfusions and hospital stays for some SCD patients, but it’s not effective for everyone. One promising FDA-approved medication, Crizanlizumab, also known as Adakveo, has been prescribed for patients 16 and up to decrease the frequency of pain crises, and another drug, Oxbryta, is FDA-approved for patients 12 and up to increase hemoglobin for those with low base lines. Although approved for adults, the meds are still being tested in clinical trials with younger children.

Common nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin, ibuprofen and naproxen can be used to manage some of the pain, but if it worsens into a crisis situation, SCD patients may need stronger forms, such as morphine or Dilaudid.

“That’s how severe the pain can be,” Dr. Johnson says. “We don’t want kids to suffer…we don’t want adults to suffer. So right now, we use what we have to use.”

A severe “pain crisis” is what typically brings SCD patients to the Emergency Department, Dr. Johnson says, and it’s also the most common reason for hospitalization. On average, SCD patients are hospitalized up to five to seven days after an episode.

While hospitalized, SCD patients may receive blood transfusions, which infuse healthy red blood cells into patients, lessening anemia and the viscosity of their blood, helping it to circulate easier through their bodies and provide more oxygen. The transfusions can ease complications from the disease.

“Blood donation is very important as transfusions are part of the treatment for many with sickle cell disease, and the blood has to be specially matched,” Dr. Johnson says. “Thus, it’s even more important to have those of similar ethnicity donating to increase the available blood supply for these patients.”

In the near future, Dr. Johnson says she hopes physicians will be able to treat the underlying genetic cause of the disease instead of just the symptoms. Research into genome therapy looks promising, she says, explaining that a patient’s mutated sickle-cell gene could either be repaired or a corrected version of it inserted next to it. The patient’s own healthy stem cells would be used, eliminating the need for finding a donor, she says. But research into genome therapy must go slowly to ensure researchers don’t inadvertently cause more complications while manipulating genes.

“I’ve told parents it’s not something we’re doing right now… but hopefully that is something that will give hope to having a universal cure in the future,” Dr. Johnson says.

Brandi Gaut is one of those hopeful parents, especially as she watches her daughter approach adulthood. She worries as Kambri gets older and doesn’t have her nearby as an advocate, she may suffer the same experiences that other SCD “adult warriors” have.

Brandi says one of the biggest misconceptions about SCD adult patients is they’re often perceived as “drug-seekers” when they go to emergency rooms in the middle of pain crises. Some health care professionals don’t want to give them pain meds because of a suspicion they’re abusing them, she says.

 “This disease is painful. What are you supposed to do when you’re in pain of that level? You need that medicine, but why is it you have to convince somebody?” she asks. “That same type of stigma is not always given to people who have leukemia or any other painful disease where they’re hurting or aching.”

She has seen it with Kambri when she has taken her to other healthcare facilities (not Cook Children’s) when they’ve been out of town.

“They’ll say, ‘Oh, she looks really good…maybe you’re not hurting that bad.’ But that doesn’t mean my daughter isn’t in pain just because you can’t see it on her outward appearance,” Brandi says. “That worries me…because like I told you, she goes and dances a whole recital and then leaves curled up in the backseat for the hospital. It worries me because she doesn’t wear her pain all over her face.”

“I’d like people to know, this is a very serious disease,” Brandi says. “I hope more attention is brought to it so there can be a cure, so people won’t have to live with years and years of suffering. Because it’s not only the pain—it attacks your immune system, it can affect your kidneys and all other parts of your body.”

In the meantime, while they hope for a cure, Kambri, who was diagnosed during a newborn screening with the HbSC form of SCD, continues to do the things she loves—like dancing, playing on her tablet and going to Camp Jubilee, an annual summer camp for area children with SCD. She has been involved with the Norvartis-sponsored clinical trial for Adakveo at Cook Children’s for the past year and a half and has had no SCD-related hospital stays since she began it. In the past, she usually was hospitalized three or four times a year, her mom says.

Kambri has definite plans for her future, in which she may transform herself into another type of warrior. Asked what she wants to be when she grows ups, she answers without hesitation. “I want to be a lawyer. I like helping people…fighting for people.”

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

Sickle Cell Disease (SCD) causes an abnormal shape of the red blood cells. The red blood cells are shaped like crescents instead of circles. They don’t last long and they can get stuck in the blood vessels, which blocks the blood flow, often resulting in pain and organ damage.

SCD is a group of inherited red blood disorders affecting an important protein in the red blood cell. This protein is called hemoglobin. Hemoglobin helps the red blood cell to carry oxygen to all the different parts of the body. In sickle cell disease, the body produces one or more abnormal types of hemoglobin. This means that the ability of the red blood cell to carry oxygen to all parts of the body is changed. Sickle Cell Disease is a lifelong illness that can result in serious health problems.

There are different forms of Sickle cell disease which are named depending on whether a person inherits a sickle cell trait from each parent or if the person inherits sickle cell trait from one parent and a different abnormal hemoglobin trait from the other parent. Some common types of sickle cell disease include SS disease also known as Sickle Cell Anemia, Sickle Hemoglobin C disease, and Sickle Beta Thalassemia.

Sickle cell disease affects about 100,000 people nationwide. Among the many misconceptions of SCD, African Americans are not the only race affected by the disease. While the African American race makes up a reported 60 to 80 percent of Americans diagnosed, people of East Indian, Middle Eastern, Hispanic and Mediterranean descent may also be affected.

The cure for SCD lies in bone marrow transplants, and while siblings typically are the best matches for this disease, anyone willing to donate can be tested.

Donating bone marrow requires less than 5% of bone marrow cells and is typically taken from the hip of the donor or through a non-surgical procedure in which it is collected through an IV.

While Stem cell transplant can provide a cure for Sickle Cell Disease, it is not an easy cure. There can be many complications. Some patients may not engraft, meaning the donor cells may not grow, and the patient’s own cell grow back instead or a second transplant is needed. There can also be challenges with finding a donor. So unfortunately we cannot consider stem cell transplant to be a universal cure that is available to all with the disease. More research for a universal cure is needed. There are small trials with gene therapy being done currently which I hope will prove successful to offer the chance of cure to even more people with Sickle Cell Disease.

The Sickle Cell Program at Cook Children's Sickle Cell Center serves more than 400 children annually across northern Texas and adjoining states. The program offers testing, diagnosis and treatment for the many types of sickle cell disease. Research is also an important part of the program as the team seeks new ways to treat and prevent the many complications that can occur as a result of this disease. Click here to learn more.

Cook Children's Hematology and Oncology Center is actively involved in sickle cell disease research, including stem cell transplantation. The recognized team of researchers work with leading organizations across the U.S. and around the globe to find solutions to treating, preventing and curing the disease. As a research facility, Cook Children's also has a number of clinical trials available and we are able to match our patients to trials at other facilities. 

Other resources on this topic:

• Sickle Cell Disease
• Hematopietic Stem Cell Transplantation
• Clinical Trial Drug Reduces Pain Of Sickle Cell Patients
• Brotherly Love: Siblings Receive Bone Marros Transplant From Older Brothers
• 'She Takes It and Keeps On Moving.' Child Battles Four Major Diagnosis and Two Surgeries in 5 Years
• The Greatest Gift: Bone Marrow Donors Tell Their Stories
• 4 Reasons Why Pediatricians Recommend Public Cord Banking
• Warning Signs of Pediatric Stroke
• Living With Sickle Cell

Life as a parent with a child who has Sickle Cell Disease (SCD) is already frightening enough, but could you imagine this diagnosis with two of your kids?

Mykhia and Malik, now 11 and 12 years old, were diagnosed with SCD within the first two years of their lives. When the family first learned of the diagnoses, they were referred to the Hematology and Oncology department at Cook Children’s.

Their mother, Monique Hammon, was familiar with the disease as it already ran in her family. She knew Malik and Mykhia would eventually need the cure of a bone marrow transplant.

“On my dad’s side, I grew up watching my family deal with sickle cell and a majority of them died from it,” Monique said. “My sister’s son went through the same thing that Malik and Mykhia went through, except he didn’t have a sibling that could donate bone marrow.”

Malik began to have more and more SCD crises, an acute pain episode that occurs when the sickle-shaped blood cells start to clump in the blood stream, and was frequently hospitalized at Cook Children’s.

Monique watched her children struggle to act like kids. They couldn’t play sports or swim due to the frequent crises and health problems, such as signs of stroke and organ failure.

“Mykhiah never had an episode. Her eyes would stay yellow, but one day her spleen swelled up and she had to have it removed,” Monique said.

Siblings typically have the highest chances of becoming potential bone marrow donors, but only 30 percent of families can find a match. Malik and Mykhia’s oldest brother was eventually tested to determine if he could be their cure, and he was.

“They [Malik and Mykhia] had a donor match,” Monique said. “I just thank God that my oldest son was a match for both of them instead of them waiting for a donor to come.”

Mykhia received her transplant first in 2015, due to signs of stroke on her MRI test results while Malik received his in 2016. The siblings can now swim and play soccer without fear of potential crisis.

“While Stem cell transplant can provide a cure for Sickle Cell Disease, it is not an easy cure. There can be many complications. Some patients may not engraft, meaning the donor cells may not grow, and the patient’s own cell grow back instead or a second transplant is needed," said Clarissa Johnson, M.D., medical director of the Sickle Cell Programt at Cook Children's. "There can also be challenges with finding a donor. So unfortunately we cannot consider stem cell transplant to be a universal cure that is available to all with the disease. More research for a universal cure is needed. There are small trials with gene therapy being done currently which I hope will prove successful to offer the chance of cure to even more people with Sickle Cell Disease.”

SCD is the abnormal shaping of red blood cells. The red blood cells are shaped like crescents instead of circles. They don’t last long and they can get stuck in the blood vessels, which blocks the blood flow, often resulting in pain and organ damage.

Approximately 100,000 Americans have Sickle Cell and an estimated 3 million Americans carry the trait, which can be passed onto their children.

Among the many misconceptions of SCD, African Americans are not the only race affected by the disease. While the African American race makes up a reported 60 to 80 percent of Americans diagnosed, people of Indian, Middle Eastern, Hispanic and Mediterranean descent may also be affected.

The cure for SCD lies in bone marrow transplants, and while siblings typically are the best matches for this disease, anyone willing to donate can be tested.

An estimated 3,000 people die each year in the United States from waiting for a donor for a bone marrow transplant because of the lack of donors on the registry.

Donating bone marrow requires less than five percent of bone marrow cells and is typically taken from the hip of the donor or through a non-surgical procedure in which it is collected through an IV.

Jakera wasn’t in pain but her mom, Tiffany Ferguson, noticed her little girl had lost range of motion on her right side.

“She couldn’t open her hands, she couldn’t lift her arms. I immediately called her doctor and told her that Jakera couldn’t move anything on right side. She told me it sounded like a stroke and to call 911,” Tiffany said.

An ambulance rushed Jakera to Cook Children’s where she was treated for a stroke and diagnosed with moyamoya, a more serious disorder that developed from her sickle cell disease. Moyamoya can occur when sickled red blood cells cause repeated damage to the blood vessels in the brain. The blood vessels begin to tangle and create a “puff of smoke” appearance on an MRI.

Moyamoya can lead to more stroke activity and typically requires surgical intervention to improve blood flow around damaged blood vessels. Jakera’s medical team decided to intervene before another stroke could occur.

Jakera had revascularization surgery in February 2019, a procedure where surgeons flipped the protective covering on top of the brain (the dura) to encourage the main artery there, the middle meningeal artery, to create new collateral arteries into the brain.

Following the surgery, Jakera now receives blood transfusions every four to six weeks.

Along with interventions such as blood transfusions, sickle cell disease is also managed by medications and potentially a stem cell transplant for long term success against the disease. But finding a donor can be seemingly never ending. Physicians will look to find a match from siblings and family first before trying to find an unrelated donor, according to Cook Children’s physician Clarissa Johnson, M.D. Jakera has not yet had a stem cell transplant, but her family remains hopeful she’ll find her match.

“A stem cell transplant is a cure for sickle cell disease because you’re basically putting new stem cells in the body,” Dr. Johnson said. “Red blood cells are made from stem cells so if you put new stem cells in the body that don’t contain Hemoglobin S, you are creating a situation where you no longer have stem cells that make sickle cells.”

With sickle cell, stroke and moyamoya, Jakera has endured her share of hardships, but it wasn’t until she was diagnosed with Bow hunter’s Syndrome that she was affected by just the turn of the head.

“She started blacking out three to four times a day. It happens [when she turns] like a bow and arrow hunter when they have to turn their head to the side to aim,” Tiffany said. “She was born right handed but when she turns her body to the right, it cuts off the circulation to her brain so she actually switched hand dominance to the left.”

Jakera had a spinal fuse from the back of her neck down to her shoulders to limit the amount she can physically turn. She can no longer turn more than 90 degrees to ensure there is enough blood reaching her brain. While this is not a cure, her physicians believe it will relieve the loss of consciousness.

Jakera is not the only one in her family impacted by sickle cell disease. Her father also faces medical difficulties.

“There were days where I was running from Cook Children’s to Harris and back to Cook Children’s so that I could be with both of them during their crises,” Tiffany said. “Everyone in the family is learning to deal with it because we know it isn’t going to go anywhere right now, but they understand the most important thing is making sure they [Jakera and her father] are OK.”

Four major diagnoses and two surgeries in five years could seem daunting to most, but Jakera has flown through it all with ease, and has even made the local cheerleading squad.

“She’s like a little woman,” Tiffany said. “She takes it and keeps on moving. The stroke limited her a lot but the squad has been so good to her. She always pushes through.”

Sickle Cell Disease is a blood disorder where the red blood cells (which typically carry oxygen through the body) are misshapen and don’t move well through the smallest blood vessels. One of the worst parts about the disease is the occurrence of sickle cell pain crises, which can lead to severe pain in the back, arms, legs or chest. These episodes can last hours to days and often result in severe pain which can require time spent in the hospital.

“This new drug may help to decrease the frequency with which people have pain crises,” said Clarissa Johnson, M.D., medical director of the Sickle Cell Program at Cook Children’s. “I’ve been telling families about the trial results. But I have also told them that it will most likely be a while before a drug trial is completed involving a larger number of patients to gain FDA approval. I’m very hopeful that trial of this drug will be successful. It is not a cure but could potentially make it easier to live with this disease, since the currently available cure of bone marrow transplant is not an option for everyone, due to a lack of available donors.”

The drug in the trial acts as an antibody to the surface of blood vessel wall and platelets that stick together, which is part of how the pain crisis happens.

Kenneth I. Ataga, M.D., professor of medicine and director of the comprehensive sickle cell program at University of North Carolina at Chapel Hill, and his colleagues, evaluated the safety of crizanlizumab. Dr. Ataga said he believes the use of crizanlizumab for people with Sickle Cell Disease “will make a significant difference in patients’ lives.”

Additional studies are needed to assess the agent in younger children with sickle cell disease.

“Children younger than 16 years of age also have painful crises but the pathophysiology is the same, so there is no reason in my mind to think it would not work,” Ataga told HemOnc Today.

Highlights of the study include:

• Almost 200 patients with a history of two to 10 Sickle Cell related pain crises in the last 12 months.

• Patients receiving high-dose crizanlizumab had 1.63 pain crises compared to 2.98 in those that did not.

• Crizanlizumab was well-tolerated, with a low rate of side effects, particularly acute chest syndrome incidence.

• Five deaths occurred during the study period but these weren’t considered related with the treatment.

Get To Know Clarissa Johnson, M.D.

At the core of Dr. Johnson's passion for medicine and pediatrics is her desire to be an advocate for those who don't have a voice for themselves. Her initial interest was to be a research scientist, but realized face-to-face interaction with patients and their families might make a greater difference in people's lives.

This personal commitment is made every day at Cook Children', but has also led Dr. Johnson to medical mission trips to hospitals and clinics in Nigeria, Ethiopia and Eritrea. Click to learn more about Dr. Johnson.

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?