Sickle Cell Awareness Day Shines Light on Complicated, Painful Disease

Every time competitive dancer Kambri Gaut takes the stage—whether hip-hop dancing, tapping or clogging—she transforms into a silent warrior.

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.