Q. I am the mother of a precious 11-month-old girl. Before we left the hospital, the doctor told my husband and me that our baby was perfectly healthy. Four months later, she was diagnosed with sickle cell disease. I’d appreciate any information you have on how to manage and cope with the illness.
A. Although you may have felt blindsided to learn that your baby has sickle cell disease (SCD), rest assured that with good care she can lead a full and productive life.
SCD is a chronic illness caused by an abnormality in hemoglobin, a protein in red blood cells that carries oxygen throughout the body. In people with SCD the red blood cells, which normally are round and flexible, are elongated, sticky, and curved. These irregular cells can clog blood vessels, depriving body tissues of needed oxygen and causing pain. SCD’s effects vary, and some kids will have fewer problems than others.
SCD is inherited. A person who has one normal and one abnormal hemoglobin gene has a hemoglobin trait, although this person does not have the disease. In couples where both the mother and father have an abnormal hemoglobin gene there is a 1 in 4 chance of having a baby with SCD in each pregnancy. Approximately 1 in every 375 African-American babies has the condition. The disease also occurs in other ethnic groups, including some Hispanics and people of Mediterranean descent.
Bacterial infections, such as meningitis and pneumonia, are among the most serious complications of SCD in infants and children and can be life-threatening. The infections occur because the sickle cells clog the spleen, a lymph-node-like organ that helps the body kill germs. To reduce infection risk, children take penicillin twice a day until they are at least 5 years old.
Pain, often from uncomfortable swelling in the hands and feet, is another common problem in children under 3 with SCD. Mild pain can be treated at home with extra fluids to reduce clogging, acetaminophen or ibuprofen, warm compresses or baths, and gentle massage. Sometimes a child can experience an acute episode that results in pain so severe that the child will be hospitalized for treatment.
Low blood count, or anemia, occurs when the sickle red blood cells break down faster than healthy ones and the body is not able to replace them fast enough. Mild anemia isn’t usually treated, but a transfusion could be necessary if the body stops producing red blood cells or the spleen enlarges suddenly and traps a large quantity of blood, causing the blood count to fall drastically.
Although SCD can’t be cured you can reduce complications by making sure your baby gets penicillin, eats a healthy diet, and drinks lots of fluids. Call your doctor immediately about any of the following symptoms: fever over 101; cough or trouble breathing; swollen or painful abdomen; very pale color; listlessness; jaundice (yellow skin color); or whenever something just doesn’t seem right. Your daughter will require more frequent check-ups than other infants, and in addition to regular immunizations, will probably receive a flu shot and pneumococcal vaccines. Ask for a referral to a pediatric hematologist or a sickle cell center, where the staff provides specialized care and will be knowledgeable about new therapies. I also urge you to join a parent support group.