Public largely unaware of sickle cell horrorsby Heather WoolwinePublic Relations To “break the sickle cycle,” the Sickle Cell Disease Association of America demands awareness so that the horrors of sickle cell disease are exposed during the National Sickle Cell Disease Awareness Month of September. Originating in at least four places in Africa and the Indian/Saudi Arabian subcontinent, sickle cell disease exists in all African countries and any place where Africans migrated. “One theory as to how a genetic mutation like sickle cell could have survived or evolved over time is that it was a survival response to malaria,” said Sherron Jackson, M.D., Pediatric Sickle Cell Clinic director. “The environment that sickle cells are produced in is not conducive to malaria so people with sickle cell trait or disease survived rampant parasites carrying malaria.” Contrary to popular belief, sickle cell trait/disease is not exclusively a condition that affects Africans or American blacks; indeed, anyone has the potential to receive the sickle cell trait. Instead, the African theory of mutation offers a reason for the trait more commonly noted in blacks and those of Mediterranean or Arabic descent. MUSC’s Pediatric Sickle Cell Clinic is the only one of its kind in the Lowcountry, and Jackson shares a deep connection with those for whom she cares. “Through this kind of practice I’m able to find the reward and joy in caring for patients from the time they’re born until they turn 18,” she said. “The trust that is formed between doctor and patient is priceless. I had a parent tell me the other day how much she appreciates the clinic. It’s so gratifying to see our patients respond to treatments or maintain their health, and yet heartbreaking because sometimes all we can do is guide them through a pain episode knowing we can’t prevent those episodes from coming.” Pain episodes for a sickle cell patient are not only intense and often debilitating, but they are responsible for a stereotype associated with sickle cell disease. “Some of the adult patients complain that medical providers lack sensitivity to their pain,” Jackson said. “They feel society has branded them as prescription drug seekers or addicts, and that they are burdens on their health care providers. I always try to emphasize to our students, staff and patients that pain is one of the major manifestations of this disease and that pain management is different for everyone. We are responsible for learning as much as we can about managing chronic pain. That’s actually a major advantage of sickle clinics at MUSC, because it enables a group of health professionals to better track and understand patients’ pain needs.” Jackson’s life-long interaction with her more than 500 patients and their families not only leads to trust but also to another important aspect of patient care, and compliance. “The quality of life for many sickle cell patients in South Carolina is improving, and it makes me very optimistic that we are progressing with our management of sickle cell disease,” she said. “But there’s still not enough awareness with the general public, and that’s why this month is so important.” In 1985, when Jackson began her devotion to sickle cell patients at MUSC, the medical center instituted mandatory testing of all babies born at MUSC for the sickle cell trait or disease. As soon as 1987, that testing was enacted statewide. A simple blood test is performed on the newborn to identify the child’s hemoglobin type. If a child has mostly hemoglobin S, a crescent-shaped red blood cell, then he or she is diagnosed with sickle cell disease. Sickle-shaped cells block blood vessels and do not live as long as normal red blood cells, so in addition to causing tissue and organ damage from vessel blockage, sickle cells often cause anemia. Having the sickle cell trait is a little different. Just because an individual inherited the gene from mom or dad, it doesn’t necessarily mean the child will exhibit those symptoms. In fact, these patients actually produce more normal hemoglobin and are generally healthy. The blood from sickle cell screening tests is shipped to DHEC in Columbia, and within two weeks physicians and families are notified if a child tests positive for either the trait or the disease. “The most important thing is to identify those babies early on and begin educating their families as to what may be in store for them,” Jackson said. “The most common cause of death associated with sickle cell disease prior to mandatory testing was due to blood infection as a result of the pneumococcus bacteria. Now, because of the increase in early diagnosis, we treat sickle cell patients with penicillin prophylaxis, vaccinate against pneumococcous and provide folic acid supplementation. The mortality rate from blood infections in sickle cell babies is now down from 30 percent to 3 percent.” And while early health maintenance begins almost at birth for many sickle cell patients, many unknowns about their future health still remain despite medical advancement. By nature, sickle cell disease is unpredictable and varied, with other genetic factors or diseases influencing its progression and manifestation. Many children fall prey to what Jackson calls “silent sickling,” meaning that although they seem healthy and symptomless, havoc is wreaked on organs and systems within the body. “Sickle cell disease can be very disruptive and a real challenge to fostering a healthy lifestyle for a child,” Jackson said. “It affects the child and the parents’ quality of life. You never know which group you’re going to be in. Are you going to be a child who remains symptomless until you’re 25? Will your health change when you hit puberty? Will you see a change before or after your sixth birthday? For any of these groups, it’s a major adjustment and a mystery. I wish I could tell my patients what it is going to be like for them, but I can’t. The best I can do is provide a light at the end of the tunnel during treatments and through family involvement.” Jackson encourages all of her patients’ families to treat the child as normally as possible and then to rally around that child when illness occurs. She said although reactions must be quick when a sickle cell patient falls ill, families and patients need to remember that the illness will pass, especially pain episodes. “Some patients are very stoic and others are very frightened each time. Their pain is mostly in the joints and bones because of the increased number of pain receptors in those areas. The best that we can do is help them get through the pain episode and to pick up where they left off afterward,” she said. Like any physician, Jackson promotes healthy lifestyles to her patients and their families, including plenty of exercise and a healthy diet. In some of her patients, certain triggers for symptom manifestations have been identified, like weather or water temperature changes. But overall, managing sickle-shaped hemoglobin is a serious challenge. Two very different therapies hold promise in treatment of sickle cell patients. The first is a curative approach known as the bone marrow transplant. Already a cancer treatment, a bone marrow transplant comes from a donor who matches a sickle patient or from the cord blood of a normal newborn. Only for patients with severe manifestations like acute chest syndrome or stroke, the number of transplants performed in sickle cell patients is still relatively small due to high morbidity and rejection. Hydroxyurea treatment is chemotherapy that turns on a patient’s fetal hemoglobin gene, normally turned off after the first year of life. Patients receiving this therapy constantly make new, normal hemoglobin and are thus able to combat sickling symptoms more effectively. More commonly used in adults, researchers are now looking at the effects of hydroxyurea in pediatric patients, including an MUSC study with sickle cell infants. Although more convenient and economical, not every patient responds to the treatment and candidates must belong to the same high-risk group eligible for transplants. It also has the major side effect of stifling the body’s immune response, so patients must be monitored closely while undergoing hydroxyurea. “Although both of these treatments are very promising and ongoing research is being conducted to better understand both, we still rely heavily on blood donations and blood donors to help us care for our patients,” Jackson said. Looking to the future, Jackson praised MUSC’s involvement in current clinical trials involving sickle cell research and sees promise in continuing to expand MUSC’s research mission. “MUSC is in a great position to participate in sickle cell research because of our large patient base and our willingness to collaborate with centers and hospitals across the country,” she said. “Improving our outreach efforts and increasing the number of South Carolinians we serve is also important because there are still children in the state who don’t have access to the education and expertise of specialists when they fall acutely ill. MUSC provides specialty care for patients with sickle cell disease, but I’d like to see our presence spread to more locations so other physicians can better serve the people in their areas.” The MUSC Pediatric Sickle Cell Clinic is open Monday through
Friday.
For more information call, 792-2957. Friday, Sept. 10, 2004
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