At 33, Alexis Jones-Heggs has known a life filled with “regular crises.”
Times when she was unable to walk or sit up straight or even use her hands to eat. High school graduation, when she’d just gotten out of the hospital and says she “limped all the way across the stage.” Becoming pregnant with her daughter, when some family members feared mightily for her own health.
Yet now, Jones-Heggs hopes, she’s setting a powerful example for people like her with sickle cell disease.
“I feel sort of like a pioneer,” the soft-spoken Jones-Heggs said by phone from Augusta University Health in January, several weeks after undergoing a bone marrow transplant from her sister as a possible cure for the inherited red blood cell disease. “I feel like I’ve opened the door for a lot more people to do this.”
A resident of little Mount Vernon in southeast Georgia, Jones-Heggs is one of the first adults in the country to get a transplant as part of a groundbreaking national clinical trial that also has a major presence in metro Atlanta. Forty sites are participating in the first of its kind National Institutes of Health-funded trial, including the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta and Emory University, the Winship Cancer Institute of Emory University, and the Medical College of Georgia and Augusta University Health.
People with sickle cell disease have abnormal hemoglobin, the protein in red blood cells that carries oxygen throughout the body. This inadequate distribution of oxygen causes frequent “pain crises” — sudden and severe onsets of pain in patients — and over time, can lead to organ and bone damage, clinical strokes and premature death.
Approximately 100,000 Americans havesickle cell disease, according to the NIH’s National Heart, Lung and Blood Institute. Most are “of African ancestry or identify themselves as black,” it says, although people from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds also have it. About 1 in every 365 black children is born with sickle cell disease, NHLBI says.
During the bone marrow transplantation (BMT) procedure, which has proved successful with younger patients, the recipient undergoes chemotherapy to destroy their own bone marrow and ward off rejection. That’s then replaced intravenously with closely matched marrow from a healthy donor.
“When their (the donor’s) marrow takes over, it will produce red blood cells without sickle cell disease,” said Dr. Jeremy Mark A. Pantin, the MCG Department of Medicine hematologist/oncologist who performed Jones-Heggs’ transfer. “It’s the only cure right now.”
The trial will enroll 200 patients between the ages of 15 and 40. About 60 will get a transplant, ideally from a closely matched sibling. The remaining participants for whom a suitable donor can’t be identified will go into a comparison group and receive the current standard of care for two years.
The trial seeks to definitively determine if bone marrow transplantation leads to better outcomes for older sickle cell patients, says the Atlanta doctor who is the principal investigator for the study’s clinical coordinating center.
“There’s a lot of pain, organ damage and hospitalizations associated with this disease,” said Dr. Lakshmanan Krishnamurti, director of bone marrow transplant and chair of blood and marrow transplant at the Aflac Cancer & Blood Disorders Center of Children’s Healthcare of Atlanta and Emory University. “There have been a lot of improvements in care, but the needle has not really moved that far in terms of survival of adult patients in particular.”
A patient cannot be determined as “cured” until one year post-BMT. The national trial runs through 2020, making any discussion of outcomes premature at this point.
“We are still in the early stages of the study, and it is too early to tell how many patients will benefit,” Krishnamurti said.
Sickle cell disease is a problem with particular resonance in Georgia. There were 7,992 people with it here in 2016, according to the Sickle Cell Foundation of Georgia. Krishnamurti said Atlanta likely has the largest number of sickle cell patients in the country. Indeed, the Aflac Cancer & Blood Disorders Center of Children’s Healthcare of Atlanta and Emory University is home to the country’s largest pediatric sickle cell disease program, caring for over 1,800 children and young adults.
For more than two decades, bone marrow transplantation has more commonly been performed on children, who tend to have suffered less organ damage and other sickle cell complications, Pantin said. Their cure rate is so impressive — 92 percent worldwide for matched sibling donor transplants, CHOA’s Krishnamurti said — that questions about the possible implications for older patients logically seemed to follow.
“We know now that if you have a really good match, you can cure children with sickle cell disease at a high rate,” Krishnamurti said. “So how about if you are able to replicate this for adults?”
It’s a possibility Jones-Heggs has been pondering for some time. In 2012, Amber Jones, the only one of her four siblings who also had sickle cell disease, died at age 19. Then, two years ago, a teenage cousin with sickle cell underwent a transplant, and “her whole demeanor has changed now,” Jones-Heggs said.
Still, there was an even more compelling reason she kept asking her doctors “why not me?”: Jocelyn, her 12-year-old daughter. She doesn’t have sickle cell.
“I don’t want her to not have me around,” said Jones-Heggs, who’s divorced. “This isn’t easy, and there are days when I think, was it really worth it? But my sister and so many friends have died, so I want to be here for my daughter.”
The procedure isn’t without risks. One potential major complication is graft-versus-host disease, in which the donor’s immune cells mistakenly attack the patient’s own cells and organs and can be life-threatening in some cases. Other risks include severe infections and the possibility of infertility for some patients who receive chemotherapy. Even after transplant recipients are released from the hospital, weeks and months of follow-up visits loom.
“A transplant takes a lot out of life,” said Pantin, who has three more patients being screened for inclusion in the trial (if suitable donor matches aren’t found, they’ll likely become part of the comparison group). “It can take months, even up to a year to get back on your feet.”
Jones-Heggs said most ill effects she experienced from the procedure were largely related to chemotherapy: Her hair fell out, and she developed painful ulcers on the roof of her mouth, lips, tongue and gums. She got out of the hospital about two weeks after her transplant in mid-December and has follow-up visits twice a week at the Medical College of Georgia and Augusta University Health.
Jones-Heggs said recently she “feels good.” It’s a long process, but she’s hopeful.
“I hope that it completely cures this for me,” Jones-Heggs said, “and I hope that this will help make it a program that nobody’s denied who wants it.”