Alexis Jones-Heggs, 32, is planning for a lot of things she just couldn’t do before. She would like to travel to the mountains. She wants to swim underwater. She wants to fly in an airplane for the first time and much more than that.
“I’m going to skydive,” she told a startled Dr. Jeremy Pantin.
“Oh dear,” he said.
But first, Jones-Heggs needs a stem cell transplant and she is hoping one of the two sisters who came with her to the Sickle Cell Center at Augusta University will be a good match. She is the first to become part of a new national clinical trial at Medical College of Georgia at AU to look at transplantation as a potential cure for sickle cell disease, which has plagued Jones-Heggs all of her life. Current treatments can only ease symptoms of the disease, where oddly shaped and fragile red blood cells die and can lead to anemia or can clog small blood vessels and produce intense pain crises.
“It’s worse than having a baby,” said Jones-Heggs, who has a 12-year-old daughter. “I would have 10 babies before I would go into a sickle cell episode. It’s like pain with no relief.”
The damage to her blood vessels in her left shoulder became so severe that it led to a condition called avascular necrosis, where the lack of blood causes bone to die, and she had to have her shoulder replaced, a procedure that usually occurs in much older patients.
“The avascular necrosis, it comes with the territory,” Jones-Heggs said. “I know a lot of sickle cell patients that had their hips replaced.”
The pain can be all over at times but often it strikes a specific area, a knee or an arm or the back, she said. There is one that strikes the chest, called acute chest syndrome, that can affect the lungs and the ability to breathe, Jones-Heggs said.
“It is sort of like pneumonia but it’s very dangerous,” she said. “A lot of people don’t make it through that.”
A little sister, Amber, died from a similar complication in 2012 at age 19, Jones-Heggs said. A lot of her friends with the disease have also died, she said.
“I feel I have been beating the odds and beating the statistics,” Jones-Heggs said. “I don’t know why God is keeping me but He has kept me and I am grateful, more than grateful.”
As she sits in an exam room at the clinic, she wears a shirt that says, “All my life I had to fight.” That has always been her reality.
“I know if I go out in the sun or I play or I get overexerted or if I go swimming or I get too hot or I get too cold or I am stressing out about anything, it triggers it,” Jones-Heggs said. “My life was never normal. I always had to watch the other kids play. Then if I did sneak off and play I paid for it, if not late that night then the very next morning.”
Things like higher altitudes, such as flying in a plane, or anything that increases her blood pressure she had to avoid. Then two years ago, a cousin in Miami received a stem cell transplant and Jones-Heggs asked her sickle cell physician and the center’s director, Dr. Abdullah Kutlar, about the possibility of getting one herself. She was told they were working on it. That became a reality when Pantin, a stem cell transplant specialist, came on board.
The first transplant in a sickle cell patient was performed in a child in 1984 and there had been about 500-600 since then, according to a 2014 review, in part because there were no big clinical trials looking into it. One study in adults found an 87 percent success rate while others noted there was still a 5-10 percent chance of rejection or death after transplantation.
“They are all small institutional studies,” Pantin said. “This clinical study is clearly designed to show in a multi-center national study that transplant is obviously superior and curative for sickle cell disease.”
First, Jones-Heggs needs one of her two siblings to match to do a transplant. One sister, Kimberly Bell, said she was really nervous the night before thinking about the possibilities.
“I don’t think I slept,” she said. But she is hopeful it will happen and cure her sister.
“We already lost one sister to this disease and this is a blessing,” Bell said.
If she gets a match, Jones-Heggs will undergo chemotherapy to wipe her existing bone marrow to prepare the way for the transplant.
“It’s still going to make me lose my hair?” she asked Pantin.
“Yes, but it will come back,” he assured her. Jones-Heggs will have to move from Mount Vernon to Augusta for two to three months for close monitoring and will have to make frequent visits after that during the first year.
“The first year is the most intense” for potential complications from the transplant, Pantin said. But unlike his cancer patients who receive a transplant, the risk of relapse is not there.
“Long-term, it looks excellent,” he said.
Now there is just the matter of a match. Jones-Heggs got the answer 11 days later and it was met with joy, and tears. Her oldest sister, Aqulia Jordan, was a match.
“I cried like a baby,” Jones-Heggs said.