Soon after her baby’s 6-month birthday, Wanda Gougis’ worst fears were confirmed. The doctor told her that her daughter, Juanita, had inherited what some other members of her family had – sickle cell anemia.
Instead of the normal cries for food or attention, Juanita cries out in pain. The infant faces repeated episodes of excruciating pain involving every joint and organ in the body.
The worst is that the mother has to stand by and watch her child go through this while having no treatment to offer. The medicines for sickle cell anemia that are given to adults have such horrible side effects that doctors do not want to treat children with them. So the future for this infant includes repeated pain crisis, stunted growth, frequent infections and many missed school days.
Sickle cell affects the structure of the hemoglobin in red blood cells by forming a sickle or crescent shape that has difficulty passing through small blood vessels. The disease occurs in about one in every 500 African-American births.
There are presently no completely safe and effective treatments for the 80,000 to 100,000 African-American people with the sickle cell disease. However, one promising treatment is on the horizon.
A young UCLA scientist, Dr. Yutaka Niihara, discovered that by placing the abnormal sickled red blood cells in a culture dish with the amino acid glutamine (a harmless substance that is in the body and commonly found in food), the sickled cells would open up and become the normal ball-like shape. Niihara gave this substance to a few patients who had at least one painful crisis a month.
The results were astonishing. The number of visits to the emergency room greatly diminished, and refills for pain medicine also dramatically decreased. The patients also noticed improvement in their activity level.
This potentially safe, effective treatment that could be given to infants, children and adults is currently undergoing trials that are supported and funded by the National Institutes of Health and the Food and Drug Administration. The goal is drug approval by the FDA.
Individuals with sickle cell are being recruited for the study; the sooner the trials are finished, the sooner this treatment can be made available to everyone in the country who has this disease.
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