New Treatments To Ease the Pain of Sickle Cell Disease


Nine-year-old Miekel describes his frequent headaches as if he's being "bashed on the head with a frying pan." He also talks about terrible pains in his back, arms and legs and the occasional trips to the hospital where he is given medication that takes away the pain but sometimes makes him nauseous. He also says he is lonely at times because he often gets too tired to play with other children his age.

   Miekel, who is African-American, suffers from sickle cell disease, a genetic blood disorder that mostly affects people of African ancestry. The disease also occurs in other ethnic groups, including people of Mediterranean, Hispanic and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia and about 2 million Americans — one in 12 African Americans — have sickle cell trait, meaning that they carry one gene for the disease but do not have the disease themselves.  

   Children such as Miekel may suffer from frequent bouts of pain, commonly referred to as "crises".  These vary in severity, length and frequency, and can affect any organ in the body; they include aching arms, legs, hips and chest and can cause abdominal pain, fever, cough and difficulty in breathing.  Youngsters may also develop jaundice — a condition that results from the high rate of red blood cell breakdown, which can cause the skin and the whites of the eyes to develop a yellowish tint.  Those with this disease are more vulnerable to infections, stroke, organ damage, and, in some cases, early death.

   Needless to say, sickle cell disease frequently disrupts the active lives of children and teenagers, causing them to miss school and restricting their participation in sports and other after-school activities. 
   Miekel is one of three young people featured in a short film by Dina Valentin, titled, Feel My Pain.  Valentin (pictured), 23, of the Bronx, who also suffers from the disease, recently showed her film at a special celebration for sickle cell patients and their families at the Bronx Zoo, hosted by The Comprehensive Sickle Cell Center of Montefiore Medical Center.  Montefiore is one of only 10 comprehensive sickle cell centers funded by the National Institutes of Health — the only one in the New York metropolitan area — for the treatment of sickle cell disease.

   A college student at Borough of Manhattan City College, majoring in film and video, Valentin made the film with basically no budget, as a school project. Her younger brother, David, 19, is one of her subjects.  "The purpose behind this film was to not only educate people about sickle cell but to show them that kids with sickle cell are just regular people," Valentin says.  "They go to school, play football, sing and dance, and fall in love just like kids and teenagers everywhere.  And, they want to be treated like everyone else."  She stresses in the film that the disease is entirely genetic, and not contagious, a common misconception.

    Dr. E. Anders Kolb, director of the Pediatric Hematopoietic Stem Cell Transplantation department at The Children's Hospital at Montefiore (CHAM), treats many children with the disease.  Sickle cell anemia affects hemoglobin, he explained, a protein found in red blood cells that help carry oxygen throughout the body.   Normal red blood cells move easily through the bloodstream; however, children with this disease have an abnormal form of hemoglobin that produces molecules that tend to clump together, causing them to form into a curved, sickle cell.  Instead of moving through the bloodstream easily, these sickled cells can clog blood vessels and deprive tissues and organs of oxygen.

   Some experts believe that sickle cell anemia may be the result of a genetic mutation that happened in malaria-prone regions like Africa thousands of years ago.  People with the trait may have been more likely to survive malaria outbreaks.  Since they survived when others did not, this allowed the trait to be passed down through generations.

   Most of the time, sickle cell is managed with pain medications such as morphine, Motrin and codeine.  However, these medications can have unpleasant side-effects, especially in children.

    Meghan D. Kelly, director of Child Life at CHAM, deals with the psychological aspects of sickle cell disease and also teaches kids how to control their pain through relaxation and guided imagery techniques.  These techniques are not meant to replace conventional pain medication, she explains, but to complement it.   "At the time of a sickle cell crisis, many children develop anxiety in anticipation of it, and the resulting pain, which may worsen the actual crisis," she said.  "Teaching children how to manage their pain through imagery empowers them to become part of the solution and may make them less reliant on powerful medications."

   Dr. Kolb speaks about what's on the horizon for sickle cell patients.  "Efforts to cure patients with sickle cell disease include strategies to replace the cells in our bodies that make the abnormal hemoglobin, or even replace just the mutated gene," he says.  "Today, patients with sickle cell disease may undergo a   transplant, using a matched sibling donor, to replace their bone marrow, including the cells making the abnormal sickle cell hemoglobin.” 
   The procedure is quite risky, so it is reserved for only those patients with the most severe manifestations of the disease, but it is a potential cure.  "Improved supportive care, better identification of appropriate donors, and expansion of the donor pool to include cord blood donors, are all strategies that have improved survival and reduced transplant-related side effects," he says.
   Another potential strategy for treatment is gene therapy, according to Dr. Kolb.  Using this strategy, scientists may be able to insert into the bone marrow stem cells of a patient a gene that encodes for normal hemoglobin.  The hope is that the new gene will compensate for the faulty one. "Ultimately, patients may be able to be transplanted with their own bone marrow, thus reducing the risk for many side-effects, while still offering a chance for cure."

   Montefiore has a toll-free info line on sickle cell disease, call 1-800-MD-MONTE.