Having a newborn baby can be a difficult adjustment for parents -- lack of sleep, midnight feedings, incessant crying. But what's even more difficult for any parent is caring for a sick child. And in the African American community, one in 500 children is born with sickle cell disease.
Dr. Betty S. Pace has made it her life's work to find a cure for the disease. Growing up in the small town of Racine, Wisconsin, she knew a large family who lost four young children to sickle cell disease.
"One was a good friend of mine, and she died in junior high school. I remember visiting her when she was bedridden from having a stroke," Pace said. "It really had an impact on me."
Sickle cell disease is an inherited red blood cell disease caused by a genetic error in a person's hemoglobin, which makes the red blood cells inflexible and sickle shaped. This leads to blockages in blood vessels and prevents oxygen from reaching the body's tissues. Side effects of the disease include swelling of the spleen, which occurs when the sickle blood cells get caught in the spleen and cause it to expand like a balloon; pain and inflammation, which happen when blood flow is cut off from the body tissue and organs; anemia; jaundice; and stroke.
"The best way to prevent death in children with sickle cell disease is diagnosis in infancy," said Pace, who Popular Science magazine named in 2004 one of the United States' "Brilliant 10" scientists. "If children with the disease are given penicillin twice a day from 3 months to 5 years, the rates of death and infection are significantly decreased."
Although there is still no universal gene therapy-based cure for sickle cell disease, Pace said that recent educational initiatives targeting parents have doubled the life expectancy of those with sickle cell disease. "We teach parents how to react to the disease symptoms. If their baby has a fever, they're told to bring the baby to the emergency room immediately because the child may have an infection. We also teach parents how to feel the spleen to see if it is enlarged," said Pace.
The average life span for individuals with sickle cell disease is 42 years for men and 46 years for women; and while the present state of the disease is challenging, Pace has confidence in the future. New, promising drugs are under development; and effective treatments continue to lengthen life expectancy. "It's my job to help people understand the process of the disease," said Pace. "I try to help parents so they don't feel like they're on this mission alone."