Family traits
Mother of five prepares three sons for lifelong sickle cell journey
On a clear March morning, the Tucker children play on a swing set at the park. Jazel, 10, pushes her sister, Kristalyn, 3, who squeals with delight. Brothers AJ, 9, Kaden, 6, and Nicholas, 5, chatter happily while they swing. “Seeing them smiling and laughing right now is the best thing because behind closed doors, they’re crying in pain,” said their mother, Crystal Tucker. “They want it to stop, and they don’t understand why. Why did this have to happen to them?” All three boys were born with sickle cell disease, an inherited blood disorder that can cause a host of health problems. “Most of the time, it’s painful,” AJ said, “but others, it’s not that rough.”
GENETIC LOTTERY
Sickle cell disease stops the body from correctly producing hemoglobin — a protein in red blood cells that transports oxygen and carbon dioxide — causing the cells to break down quickly, leading to anemia, a lack of red blood cells, said Dr. Suzanne Saccente, pediatric hematologist at Arkansas Children’s. When the atypical red blood cells do not receive enough oxygen, the cells sickle, becoming hard, sticky and crescent-shaped, she said, adding that sickle cells can form log jams that block blood vessels, cutting off the oxygen supply to parts of the body, which causes pain and organ damage. “The cell turnover and anemia affect every organ system in the body,” she said, “so even though you say it’s just a blood disease, it affects every organ system.” People inherit a copy of the hemoglobin gene from each parent, she said, adding that individuals who inherit a copy of the hemoglobin S gene from both parents have hemoglobin SS disease, the most common form of sickle cell disease. Patients with hemoglobin SS disease have a 10 percent risk of stroke, she added, as well as increased risk of bone and joint problems, lung problems, infections and early kidney failure. Tucker said her sons have hemoglobin SC disease, the second-most common type of sickle cell disease, which means the boys inherited an Hb S gene from one parent and an Hb C gene from the other. Although this form is milder than hemoglobin SS disease, Saccente said, patients face similar risks and symptoms. Unlike her brothers, Jazel has only one sickle cell trait, Tucker said, so Jazel could have children with the disease if their father also has the trait. Kristalyn, the youngest child, does not have the trait or disease. People with sickle cell trait only have sickling and pain in extreme circumstances, such as high-altitude training for professional football players and Navy SEALS, Saccente said. According to the Centers for Disease Control and Prevention, sickle cell disease affects 90,000 to 100,000 people in the United States, occurring in about 1 in 500 African-American births and 1 in 36,000 Hispanic-American births. Those whose ancestors hail from tropical areas are most at risk for sickle cell disease because the trait gives red blood cells more resistance to malaria, which provided an evolutionary benefit in areas where the mosquito-borne disease is common, Saccente said. “Obviously, if you have [sickle cell] disease, the problems outweigh the benefits,” she said, “but those who had the trait had less problems with malaria and went on to reproduce more.” Although there is no widely available cure for sickle cell disease, the National Institutes of Health reported that bonemarrow transplants have been shown to reverse the disease. Saccente said the transplants are most successful if the bone marrow is donated by a matched sibling who does not have sickle cell disease. Patients must weigh the risks of the procedure against the benefits, she added, because bone-marrow transplants cause complications for recipients, such as increased risk of infection and graft-versus-host disease, in which the white blood cells in the new tissue attack the recipient’s body. “How bad is your sickle cell disease, and when is it worth it?” she said.
CRISIS
Tucker said she was surprised when AJ was diagnosed with sickle cell disease at birth. “I had not heard of sickle cell ever in my life until AJ was born, and [doctors] told me he had it,” she added. “I didn’t quite understand what it meant.” AJ was 8 months old when he had his first pain episode, or crisis, she said. These sudden bouts of intense pain can last from a few hours to a week, Saccente said. “It stops everything,” she added. “They are in so much pain that they can’t work through it.” At the time, Tucker and her family were stationed in Germany, where her now ex-husband was serving in the Army. There were no military hospitals available, Tucker said, so AJ was admitted to a civilian hospital. “That was quite an experience because nobody spoke English, and I didn’t quite understand what was going on,” she said. “He was a baby, so we couldn’t talk to him. He was just crying and screaming and had a high temperature.” After the episode, the family moved to Texas, and Tucker said AJ did not have another crisis until the family moved to Arkansas, her home state, in 2012. Kaden never had a crisis in Texas, either, Tucker said, which has left her wondering whether Arkansas is the best location for her family. Saccente said various factors, including cold, dehydration and viruses, can trigger pain episodes. Tucker said she believes Arkansas’ swift, drastic weather changes cause more crises. “Really, anything can cause a pain crisis,” Jazel said, echoing her mother, who explained that the family is still learning the many variables that cause the boys’ pain episodes. Stress and sudden pain, such as a broken leg, have both triggered crises, she said, and AJ has noticed that swimming can also trigger an episode. “That has been a process for all of us as a family,” Tucker said. “A lot of things can be prevented, especially when you start noticing that this seems to be a common thing that happens after we do this.” When the boys go into crisis, they may have swollen hands and feet, fever, shortness of breath, jaundiced (yellow) eyes and, of course, pain, Tucker said. During a pain episode, her sons may hurt so badly that they are unable to eat or walk, she said, and she often has to help them with simple tasks, such as brushing their teeth. “Their daily living is impacted so much,” she added. “They can’t do it on their own. I don’t know how adults deal with it, especially if they’re alone, if they don’t have a spouse.” Tucker said she treats her sons’ pain with over-thecounter pain relievers, heat packs and, in more severe cases, prescription Oxycontin. If she cannot manage their pain at home, the family heads to the hospital, where staff can provide stronger medicine. Sometimes, hospital staff will administer morphine and send the sick child home to see if his pain subsides, she said. “I dread that because sometimes when they send us home, we’re coming right back, and the ER visits can take up to 12 hours,” she added. “That’s really hectic because I have four other kids that I have to place somewhere, or they’re usually in the ER with us, so all six of us are sitting in that little-bitty room at the ER.” Each of her sons could be hospitalized one to three times a year, she said, and each hospital stay can last one to three weeks.
COMPLICATIONS
“I can tell you this: You don’t want to get sick,” AJ said. “It’s disgusting, and it’s painful.” Certain medical treatments can help prevent pain episodes and keep sickle cell patients healthy. Hydroxyurea is used to treat patients with hemoglobin SS disease, although it is not prescribed to those with hemoglobin SC disease as frequently, Saccente said, adding that the U.S. Food and Drug Administration recently approved a drug called Endari to treat sickle cell. Sickle cell patients younger than 5 take penicillin to stave off infections that can lead to life-threatening complications, she added. Furthermore, Tucker said, her sons take folic acid daily to promote red-blood-cell production. Children who have sickle cell make five to 30 percent of their red blood cells each day, Saccente said, adding that typical children make only 1 percent. Tucker also works to keep the kids healthy by providing a well-balanced diet and avoiding situations that could trigger a crisis. She sends her children to school with bottled water and hopes they stay hydrated, and in the winter, she sends them to school with hats, scarves and mittens, hoping they bundle up before recess. However, she cannot always protect the children from germs. “Do I really want to send my kids to school today? Because they could get really, really sick,” she said. “This year, seeing people with the flu has made me quite nervous. I’ve been thinking about pulling them out, at least until it calms down a bit.” During a visit to Nicholas’ school, she said, she got worried when she saw how many of his classmates were coughing. Sure enough, she said Nicholas got sick and spent a week at the hospital, the Tuckers’ first hospital stay of 2018. While a fever might not warrant a doctor visit for most children, Tucker said she has to take the boys to the hospital if they have a fever higher than 101.4. Saccente said this allows physicians to check the boys’ blood counts and provide IV antibiotics to head off infections that could lead to devastating complications. Patients with sickle cell have an increased risk of sepsis, a dangerous bodily response to infection, she added. Other viruses, such as parvovirus B19, which causes fifth disease, a common childhood ailment, can be deadly for children with sickle cell disease. The virus stops red-blood-cell production, which can cause an aplastic crisis in which sickle cell patients become severely anemic and require blood transfusions. “To me, the worst part of being sick is I have to get blood transfusions,” AJ said. “I have, like, 10 other people’s blood in my body right now.” Infections can also lead to acute chest syndrome, which causes symptoms such as chest pain, coughing, fever and trouble breathing, the CDC states. Saccente said ACS occurs when an illness reduces oxygen in the lungs, increasing sickle cells in the area and causing log jams that, in turn, reduce oxygen levels further and create more sickle cells. “You get a spiral of increased infection and increased sickle cells in that area,” she said. Treatments for ACS include antibiotics, blood transfusions, respiratory treatments and, in severe cases, intubation, in which a plastic tube is placed in the windpipe to maintain an open airway, Saccente added. “It’s really scary,” Tucker said, recalling Nicholas’ hospital visit. “They can seem fine one minute, and then they’re rushing to the ICU.”
HOSPITAL LIFE
When one child is admitted to the hospital, Tucker must find a place for the others to stay. “God has blessed me with a really good support system,” she said, adding that her grandparents, who live near Arkansas Children’s, can keep the kids overnight. If her grandparents are unavailable, she
said, she reaches out to church members through a group text of people who have offered to help. “I don’t think people understand how life-changing it is,” she said. “Hospital visits and constant pain are our life. We have to worry about getting sick or hurting ourselves because that could lead to up to three weeks of our lives changing.” Having a brother in the hospital also takes an emotional toll on the children. “I feel sad because they’re in the hospital,” Jazel said. “I feel sad, too, because sometimes Nick, when we have to go to school or we have to drop him off somewhere, he gets scared and calls Mom, and so I just feel kind of sad,” AJ said. “Kaden, I do feel sad about him sometimes, but he’s too busy playing the Xbox.” Kaden grinned while he rattled off the video-game systems that help make his hospital visits more enjoyable. Because the boys often miss school when they are sick, Tucker said, each of her sons has a 504 Plan to ensure that they receive academic accommodations. Once before the plans were in place, Tucker said, AJ could not make up his work during an absence, and his grades dropped. The plans can have drawbacks, she added, and AJ has also been exempted from schoolwork entirely, which could prevent him from learning the basic skills he needs to succeed. “If you have a fever, you can’t go to day care, [and] you can’t go to school, so then you just have to be home,” she said. “Oftentimes, my boys are at home, which makes it hard for me to work because if they’re in the hospital every two or three months, who’s going to hire me when I have to be out one to three weeks?”
THE FUTURE
Tucker said she plans to care for her sons as long as needed. She added that she has heard that people with sickle cell disease are living longer than they used to, which gives her hope. One of her uncles, now in his 60s, has sickle cell disease, she added. When he is not at the hospital, he is often homebound because of his illness, she said, but he is alive. “Usually [patients with sickle cell disease] have more problems as they age, and that’s because of the chronic organ damage that slowly happens with sickle cell disease,” Saccente said. “We all age, and our bodies have changes as we age, but with sickle cell patients, all of those changes add up a little bit faster, so most of them have more pain crises as they get older.” However, treatments have made incredible progress in the past 20 years, she added. Saccente, who trained in Birmingham, Alabama, a city with a large sickle cell population, said it was not unusual for babies with sickle cell disease to die of sepsis during the early 1990s. In the years since, improvements in blood-transfusion methods, antibiotics, vaccines and support services have improved outcomes for patients with sickle cell disease, she added. Tucker said she plans to go back to school and find employment so she can support her children, but she worries about the boys being left behind if she begins working. “My kids come first, and I guess I have to do those things and, hopefully, succeed, but my fear is that I’m going to fail all of that and my kids,” she said. “If they’re hurting and I have to stay home with them, they can’t go anywhere. … Even if I found a family member or a church member who could watch them, they don’t know the things to look for, and it’s not their mom.” When things get rough, Tucker said, the family’s faith in God gives them strength. The three oldest children were baptized last year, she said, adding that she hopes to apply for a scholarship to a Christian school, where the kids can continue to have a faith-based influence if she begins working. “I want what any parent wants, which is the best for them and to give them the life that I never had,” she said. “They sure didn’t ask for this. I didn’t either. I just want them to live as normal of a life as they can have under the circumstances.”