Great Barrington — It is a devastating blood disorder that, in the United States, afflicts almost entirely African-American children and causes a pain akin to being struck and run over by a truck.
If a child with sickle cell disease survives into adulthood, many won’t live long. Half of those who have it will die by age 40.
Research and cures for sickle cell disease have been underfunded as attention and wealth floods into other conditions. But this may change with the work and passion of local physician John Horan and grant writer Ruth Dinerman who, last December, started the national nonprofit research foundation STAR (Sickle Transplant Alliance for Research).
Horan, STAR’s medical director, splits his time between Great Barrington and Atlanta where he is a specialist in pediatric cancer and blood disorders. He’s also an associate professor of pediatrics at Emory University School of Medicine where he helps develop and lead clinical trials. He explained that sickle cell disease is inherited when both parents carry the genetic trait. It causes red blood cells to become “rigid” and get caught in small blood vessels, causing “a really horrific pain crisis.”
It is life-threatening, Horan added, noting that strokes in children with the disease are common, “like you would see in a 70-year-old adult.” There are ways to spot the occlusions to the larger blood vessels that feed the brain and to treat that, he said, “but that’s with constant blood transfusions, and most blood in banks comes from white donors.”
Indeed, there is a race card here, and an uncomfortable statistic: Horan said a 2013 edition of Blood Journal, for instance, found that fewer whites have cystic fibrosis than African-Americans have sickle cell disease, yet “cystic fibrosis has 400 times more funding than sickle disease,” Horan added. “Diseases that have impacted whites have had strong powerful organizations that raise money.”
For partly this reason, both Horan and Dinerman, STAR’s executive director, say it inspires them to have STAR’s home base in Great Barrington, the birthplace of African-American author, civil rights activist and scholar W.E.B. Du Bois.
“We could have based [STAR] in Stockbridge,” Dinerman says, “but we wanted the home of Du Bois rather than the home of Rockwell.”
Until the 1970s, most children with sickle cell disease would die before the age of five to 10 years. “It still happens in Africa,” Horan said, because the disease damages the spleen, which usually filters the blood and protects against bacterial infections. “Vaccines and prophylactic antibiotics in the West keeps those infections at bay,” he noted.
Roughly 100,000 Americans have sickle cell disease and many more are genetic carriers, Dinerman said. Dominicans and Puerto Ricans are also more commonly carriers of the disease, as well as people in certain areas of India and Africa. Horan explained that being a sickle cell carrier is protective against malaria, and that this is an evolutionary adaptation. “A lot of diseases are driven by malaria,” he added, and said he had only met one white person with the disease.
Horan and other physicians and researchers around the country are on board, along with 15 large medical institutions like Emory that are offering their “grace and support,” Dinerman said. There’s also one medical center in Calgary, Canada. Horan said six or seven blood and bone marrow transplant programs across the country came together to create a “trial consortium.”
“We’re doing it because there’s a lot of other funding and infrastructure for kids with leukemia and other cancers, but very little or nothing for children with sickle cell,” Horan said.
“It’s pretty much a death sentence if you are a child with it,” Dinerman said. “If we can cure it in children, then there won’t be any young adults with it. By the time these children reach adulthood, so much damage has been done.”
The only cure is a bone marrow transplant from a well-matched donor, usually a sibling, she said. That has a 95 percent cure rate with a disease-free future.
But there just isn’t enough, as last year only around 200 people in the U.S. had bone marrow transplants, Dinerman said. “Improving the cure and making it available to more people is why we started STAR.”
Two clinical trials have been launched. One is National Institute of Health-funded and directed by Seattle-based researcher and physician Leslie Kean to try an immune suppressant medication that will allow a child with the disease to better accept the new immune cells from the transplant. When a child does not have an optimal donor match, “the transplant can kill them or leave them with chronic disability,” Horan said. The problem is known as “graft versus host,” and it is a major focus of Kean’s work.
A second trial is to “help the more moderate sufferers,” Horan said, “to save them from problems as adults.”
Horan says that, given the racial element, STAR is working hard to be “culturally sensitive, inclusive, but not in a paternalistic way.”
Horan noted that one challenge for the trials is mistrust among African-Americans of big medical centers, a legacy of the Tuskegee Syphilis Study in Alabama in which the U.S. Public Health Service studied the progression of untreated syphilis in black males under the pretense of administering free health care, and withheld penicillin after it became available and was a known cure.
“Tuskegee casts a long shadow,” Dinerman said. “We’re making good scientific decisions, and we want guidance to make sure we’re making ethical decisions.”
As the organization is young and growing, its board is looking for more input and help. For those interested, she said, one can go to the STAR website to make a donation or sign up for free updates about the progress of the trials and other news.
Dinerman said STAR’s board is composed of doctors and researchers as well as someone who has sickle cell disease. While Emory was the lead institution for one grant, STAR is looking for more large grants to fund research and trials.
Dinerman pointed out that STAR hopes to also address a tragic reality in older patients with the disease: how rare it is to find physicians who specialize in treating it since, for so long, it killed the afflicted before they could grow up. For this reason, Dinerman said many young adults rely on emergency rooms to treat their pain.