The pain in his joints throbbed in and out, with every beat of his heart. Pain, like a million tiny needles jabbing in and pulling out, with every beat of the heart.
“Mommy! Make it stop! Make it stop - now.” He needed to calm himself in the midst of pain and panic.
He had tried rhythmic breathing. He tried thinking of pleasant things. He tried focusing on the touch of his mother’s hand.
After forcing fluids and keeping perfectly still, like a slowly receding tide, the waves of pain steadily washed away. Soon, he would be back to a weakened but more normal self.
(This brief description of a crisis is experienced routinely in the young lives of most sickle cell patients. It’s played out as frequently as once a week and perhaps as rarely as once a decade. But research being conducted at UTD may make such suffering a thing of the past sooner than most people think.)
Sickle cell anemia, an inherited blood disorder in which red blood cells distort and become a sickle shape, shortens the lives of sufferers, inflicts tremendous pain and makes patients more susceptible to infections. It also may be cured within a decade, according to Betty Pace, M.D., director of the Sickle Cell Disease Research Center (SCDRC) and professor at The University of Texas at Dallas.
When Dr. Pace was a teenager growing up in Racine, Wis., one of her close friends, Phyllis Sanders, died from the disease.
“Back then, people with sickle cell did not do well. Many of them died by their early teens,” Dr. Pace said.
Soon after Phyllis’s death, Dr. Pace made a commitment to find a cure.
“It’s just one of those things in life that made such an impression on me. From that point on it basically became a career focus [that] when I grew up I’d do sickle cell research,” she said.
Her research efforts have not gone unnoticed.
‘Brilliant 10’
In 2003, Dr. Pace was named one of the “Brilliant 10” scientists in the United States “for her innovative approach to combating a fatal disease that affects millions of people across the globe” by Popular Science magazine.
The magazine annually honors 10 scientists who are “working in hybrid disciplines, defining new fields and whose work is watched and admired” by colleagues.
“After I got the award from Popular Science as one of the Brilliant 10, my hometown had a program for me, where they honored me by declaring it Dr. Pace Day in the city of Racine, where I grew up. And I got the chance to see Phyllis’s parents after many years. They were really encouraged that I’m still doing research on sickle cell disease,” Dr. Pace said.
Pace’s research efforts
Dr. Pace’s research aims to identify proteins to reactivate dormant fetal hemoglobin genes. She said production of fetal hemoglobin could supplant the sickle hemoglobin and ultimately improve symptoms.
Dr. Pace also is testing a gene-therapy approach to prevent fetal hemoglobin from switching to adult hemoglobin production, which usually takes place a few months after a child is born.
“Fetal hemoglobin has been in a love-hate affair of sickle cell anemia for years,” Dr. Pace said. “It is effective in blocking polymerization of sickle hemoglobin, which produces polymer strands and sickle shaped red blood cells.
“When fetal hemoglobin levels are high – which is why babies don’t have symptoms until their fetal hemoglobin drops – it actually blocks the polymerization process. You get hybrids between fetal and the sickle hemoglobin, no longer forming polymers that damage red blood cells. That’s what we are after,” Dr. Pace said.
If successful, the cure might be a simple pill or injection.
“We will have a cure for sickle cell disease in the next 10 years,” Dr. Pace said.
Current remedies
Dr. Pace listed preventive measures since Phyllis’ death that have helped improve life for sickle cell patients. Among them:
- Prophylactic penicillin: “A study showed that giving babies penicillin from 3 months old to about 5 years of age would reduce the No. 1 cause of death in sickle cell patients, which is infection.
- Newborn screening: “The second major thing that came out of the prophylactic penicillin study was newborn screening programs in the all states except one. To start penicillin treatment at the appropriate time the babies must be identified at birth,” Dr. Pace said.
- Trans cranial Doppler screenings: “Screening all children between 2- and 16-years-old with sickle cell anemia at least once a year with trans cranial Doppler, which involves placing a small device against the head and measuring blood flow to the brain, is the current recommendation. Increased pressure and blood flow is predictive of stroke risk,” Dr. Pace said.
Because sickle cells tend to produce a “logjam effect” in vessels, restricting blood flow depriving tissues and organs of oxygen, patients are at higher risk of developing strokes and permanent organ damage.
“One out of 10 children with sickle cell anemia will suffer a stroke. The trans cranial Doppler study will allow us to identify these children before they have a stroke and suffer permanent disabilities,” Dr. Pace said.
Medical background
Unlike most of her colleagues at UTD, Pace is not a Ph.D.
“Actually, I am an M.D., and I’m the only one at UTD. I maintain some contact with faculty at U. T. Southwestern Medical Center through clinical research and interacting with George Buchanan, M.D., in the pediatric sickle cell clinic.
“I am a licensed physician in Texas. But the majority of the time I train students and do research in my lab in Berkner Hall. We currently have 15 people at some level of training or employed in my lab, which is part of the Sickle Cell Disease Research Center,” Dr. Pace said.
Directing the SCDRC
Dr. Pace and the research center promote public education and awareness.
“Education has been the No. 1 activity that has improved the quality of life for sickle cell patients. Teaching people about their disease, how to respond and seek medical care, has made a tremendous impact on disease outcome.
“We can do all of our fancy and complicated research, but telling people what to do about their disease and how to help is very important,” she said.
“My baby is research and training. We recently established the MIRROR program at UTD – Minority Recruitment, Retention and Opportunity for Researchers of the future,” she said.
The program provides annual stipends of $5,000 to $32,000 to minority undergraduate, graduate and post-doctorate researchers and is federally funded, Dr. Pace said.
“Our goal is to get students interested and excited about going into biomedical research careers,” Dr. Pace said.
With so much research going on, she still has time to teach.
“In my spare time,” she laughs, “I developed and teach a course called Genomics, a branch of genetics that studies organisms and their full DNA sequences. It’s a combined graduate/undergraduate course.
“I also teach three hands-on classes in a new laboratory methods course for students seeking a master’s degree in biotechnology.
“Some people ask, ‘How do you spend your whole life doing nothing but sickle cell disease.’ And I say, ‘Answering a simple research question takes a long time, but I’m up to the task,’ ” she said.
- Updated: January 8, 2008
