Intense pain. Fatigue. Repeated infections, emergency room visits and hospitalizations.
Desiree Ramirez endured them often — until she became the first adult cured at a Kansas hospital of sickle cell disease.
Bone marrow stem cells donated by a stranger rescued Ramirez at age 23. Now, a year past transplant, with follow-up doctor’s office visits slowly receding, she finds herself eagerly anticipating a normal life, one without the inherited blood disorder that affects 70,000 to 100,000 Americans, mostly people of African heritage.
“I am doing a lot better now,” Ramirez said during a recent checkup at the University of Kansas Cancer Center in Westwood. “And I see better things to come in the future.”
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Sickle cell disease deforms blood cells, causing them to clump together as they journey through the body. It can cause anemia, pain, strokes, organ damage, tissue damage, swelling of extremities and other health problems. The disease occurs in about one in 500 African-American newborns and one in 36,000 Hispanic-American newborns.
Though pioneered three decades ago as the first sickle cell cure, bone marrow stem cell transplants remain underused — especially for adult patients — because of the risks involved, a lack of public awareness and a shortage of bone marrow donors for African-Americans.
Nationwide, fewer than 120 such transplants took place last year. Children’s Mercy Hospital, which currently has about 300 sickle cell patients, has done four or five transplants over a 14-year period. The University of Kansas Hospital’s transplant on Ramirez was the metro area’s first on an adult with sickle cell.
In even smaller numbers, U.S. doctors also are using stem cells from peripheral blood and umbilical cord blood to cure patients. International researchers recently announced the first cure from gene therapy, which they used on a French teenager.
More public education about the cure and better recruitment of bone marrow donors could help more high-risk patients shed the disease, said Joseph McGuirk, medical director for blood and marrow transplant for the University of Kansas Health System.
“This is an increasingly utilized strategy to cure patients — and cure is correct,” he said, in reference to the fact that many still aren’t aware a cure exists.
Even the chief of staff once questioned McGuirk about whether he was going around telling people there was a cure. “Actually, I am,” answered McGuirk, who offered to send over some literature.
The news also stunned some African-American community leaders when McGuirk told them last year that sickle cell could be cured.
Many of them have begun spreading the word, too, by distributing brochures and discussing transplants at community health forums and other events.
“Sickle cell is a really harsh disease to live with,” said Eric Kirkwood, a sickle cell patient and the director of Uriel E. Owens Sickle Cell Disease Association of the Midwest. “A lot of people could be cured with this transplant.”
Yet it’s not an easy cure. And it’s not for everyone.
Some patients respond well to medication and can live with nonsevere sickle cell symptoms for decades. They should not risk a transplant, which could leave them sicker — or even kill them, doctors say.
For those battling what McGuirk calls “high-risk features” of the disease, the transplants can prolong and transform lives. But if doctors wait too long, and the disease progresses too far, the patient’s transplant mortality chances grow too high.
The key is to strike a balance between too early and too late.
“There are so many variables; it is not an easy decision,” said Gerald Woods, Children Mercy’s director of hematology, oncology and bone marrow transplantation.
KU Hospital staff looked several years for their first patient. “We’ve seen a few referrals over the years, but when we have conferences with patients and their families, there is a lot of skepticism,” McGuirk said.
Ramirez researched the procedure, peppered doctors with questions and discussed the possibilities with family. When she weighed the risks against how severely the disease had impacted her life, her decision came easily.
She didn’t want to keep living the way she had been.
‘It’s just really hard’
As an infant, Desiree Ramirez cried so hard her mother knew something was wrong.
“I think all moms know the different cries their baby does, like a hunger cry versus this cry,” said her mother, Lasherrez Clark of Topeka. “This cry, it sounded like a pain cry. … I would take her in (to the doctor), and they couldn’t figure out what was wrong.”
When Ramirez was 3, her Topeka doctor finally ran blood tests. He sent Clark and her daughter to the University of Kansas Hospital to hear the results and talk treatment.
Both parents must have the gene for a baby to inherit the disease. Clark, who is African-American, had no idea she carried the sickle cell gene. Ramirez’s father, who is Hispanic, didn’t realize he carried it, either.
As Ramirez grew, her health problems multiplied. Pneumonia badgered her. Pain crises intensified and appeared more frequently. She needed amoxicillin to defeat repeated infections.
Clark rarely slept more than a few hours at a time. She had to look in on her daughter, check her temperature and listen for moaning. If a pain episode might be brewing, Clark wanted to get ahead of it with medication and hydration.
“It is just such a debilitating disease and it’s so painful, and it’s hard to watch your child crying and screaming and there’s nothing you can do about that,” she said.
But sometimes, symptoms exploded suddenly.
They’d go to an urgent care clinic only to be turned away because the clinic didn’t treat sickle cell. Sometimes, hospital emergency room nurses acted skeptical, as if they thought this child had a pain medicine habit instead of actual pain.
Ramirez spent some birthdays and Christmases in the hospital. She found it difficult to make plans with friends “because at the last minute, I might have to pull out because I am having a sickle cell crisis, and people don’t understand that,” she said.
One time, her mom splurged on concert tickets. At the last minute, sickle cell forced Ramirez to miss the concert.
Another time, they drove to Denver to start a family vacation, and Ramirez got sick as they arrived. Mom turned the car around and headed back to Topeka.
“It’s just really hard,” Ramirez said. “You can get infections at any moment. It’s just a lot of complications.”
About five years ago, they began investigating transplants. A move to Texas and other factors sidetracked those efforts. At one point, Ramirez enrolled in an Oklahoma college, later dropping out because of her disease.
After returning to Topeka, Ramirez and her mother reached out again to KU Hospital.
Soon, the search began for a bone marrow match.
Finding one can be a challenge. Perhaps 30 percent of all patients who need a bone marrow transplant will have a sibling who is a match. Others must turn to the worldwide donor registry. The news there for African-Americans, and other minorities, isn’t always good.
A study released last year involving acute leukemia patients found that African-Americans’ chances of finding a match were half that of white patients, McGuirk said.
If a match is found, it still can take weeks to confirm the match and work out transplant details, assuming the donor doesn’t back out.
Ramirez feels fortunate that the registry found multiple matches for her. A still-anonymous woman agreed to go through with the donation.
When she heard the news, Ramirez felt relieved. Her mother burst into tears.
‘Such a blessing’
Bone marrow transplants are complex.
Doctors use chemotherapy, and sometimes radiation, to eradicate the patient’s immune system.
About a week later, the bone marrow stem cell transplant takes place through a process that resembles a blood transfusion. The bone marrow flows from a bag into the patient’s vein as a nurse monitors the patient’s vitals for negative reactions.
The new immune system may not like its new host. It could recognize the patient’s body as foreign and attack everything from the skin to the liver and intestines in what is known as graft-versus-host disease. Such reactions can be mild, severe — or even fatal.
If treatment goes well, the patient typically stays in the transplant unit about three more weeks.
After being released, the patient must live within a 30-minute drive of the hospital for the next 100 days, which are filled with medical appointments. Later, the time between doctor’s appointments and lab tests gradually extends. Meanwhile, the patient stays on immunosuppressant drugs for months.
Ramirez, who grew to dislike hospitals as a child, took her own pillows, sheets, comforter, nightgowns, family photographs, slow cooker and coffee machine to the bone marrow transplant wing. It felt like setting up a dorm room, albeit one in a highly regulated, germ-free zone. The home comforts helped her cope, she said.
On transplant day, her mother and sister stayed with her. The transfusion took about 90 minutes.
A few days later, her hair came out in big chunks.
Her new immune system took hold. Her blood type became the same as her donor’s. Today, those blood cells still are normal, not shaped like a sickle, as her old blood cells were.
Though Ramirez did develop graft-versus-host disease, it was not severe.
She still needs a new hip to replace the one sickle cell disease damaged through necrosis. But life already is so much better.
“I haven’t had any infections, I haven’t had to go to the hospital, I haven’t had any pain crises or anything,” she said. “I am so appreciative and grateful for this. It is such a blessing.”
Someday, Ramirez hopes to meet and thank her donor.
Her mother would love that, too.
“She (the donor) does not realize how much of a life-saver she is and how much she has altered the quality of life for my daughter and even for myself. … We truly appreciate her.”