sickle cell affects the whole family
by J.C Phillips
Sickle cell anemia is a genetic disorder of the hemoglobin in red blood cells that causes the normally smooth, round cells to become hard and misshapen – sickle-shaped. The sickle- shaped cells clog blood vessels, depriving the body’s vital organs of oxygen and causing pain. Approximately one in 500 African Americans suffers from sickle cell anemia while one in twelve African Americans carry the sickle-cell gene, which is known as sickle cell trait. However, the disease affects far more individuals than this statistic might suggest. The numbers ignore the thousands of family members and friends whose lives are also affected because their loved ones are victims of the disease.
I grew up watching this form of anemia ravage my little sister’s body. She was in and out of hospitals her entire life. The veins in her arms were so abused from years of I.V. use that she had to undergo the surgical placement of a permanent catheter into her chest. In the last years of her life, she was unable to work, her body had become swollen and she was walking around on a dosage of pain medication so high that the rest of us would have been down for the count. But the effects of the disease did not stop there.
I watched my parents sit with my sister night after sleepless night while she rocked back and forth in agony. Eventually my sisters and I became immune to her cries. Her visits to the hospital became routine. After a while, they were seldom worth mentioning. As children, we didn’t understand why my mother kept the oxygen tank stored in the cabinet over the washing machine or why outings were sometimes cancelled at the last minute. As adults, we watched in silent terror as her body continued to deteriorate. Finally, at the age of 30, she succumbed to heart failure.
If both parents carry the sickle cell trait, there is a 25 percent chance a child will be born with the disease. Therefore, before having children, I insisted that my wife be tested for this trait. I know that I carry the gene and felt strongly that I didn’t want to father a child if there was a risk the child would have sickle cell disease. I didn’t want to put a child of mine through that and, quite honestly, didn’t want to relive the helplessness, fear and grief that infused my relationship with my sister.
Perhaps it is unfair to portray my sister’s life as one long uninterrupted sickle cell crisis. In spite of the disease she managed to graduate at the top of her high school class, earn a college degree, buy a home and get married. She played the violin, doted on her nephews, and loved to laugh. She was also a good listener and only too happy to balance her older brother’s checkbook from time to time. When she died, I lost a good and trustworthy friend. Maybe I should leave judgments about the quality of her life to her alone.
After all is said and done, it is quite possible my wife and I would have had children even if she had carried the gene. But I still would have insisted that she be tested for the sickle cell trait before becoming pregnant. Knowledge is power. I know from experience that the toll on anyone suffering with sickle cell anemia is enormous. The toll on the family can be overwhelming, too.
From time to time, I read about some breakthrough that has moved scientists closer to finding a cure. Recently, scientists at Harvard and MIT have used gene therapy to correct sickle cell disease in mice. Recently, scientists have found that the drug Hydroxyurea could bring relief for millions of sufferers and in some cases be life saving. There are continued advancements in the use of bone marrow transplants to correct sickle cell disease and there is progress being made daily in the use of drugs to stimulate the development of fetal hemoglobin in the blood, which stops the cells from changing shape and decreases the pain. Even though a cure is still years away, these developments, diagnosis improvements and treatment changes are making it possible for those with sickle cell to live longer, healthier lives.
I am heartened that the lives of those suffering and their family members are being offered relief. Still, I can’t help but wish the good news had come a decade or two earlier. My sister squeezed a lot into her 30 years. I just wonder how much more she would have accomplished had she been given just a few more pain-free days.