Long Island parents have baby whose bone marrow cures sister's sickle cell disease

 Twenty-month-old Vida Rodriguez was a whirlwind on a recent Friday morning, climbing onto chairs and under couches in her family’s Central Islip home while her giggling older sister Alessia chased after her.

That her parents named her Vida — Spanish for "life" — is no coincidence.

She's the reason 7-year-old Alessia is playing at home — instead of lying in a hospital bed, fighting the painful and debilitating symptoms of sickle cell disease.

Maite Rodriguez-Caraballo and her husband, Dario Rodriguez, conceived Vida via in vitro fertilization with genetic testing, looking for a baby whose stem cells would match Alessia's. 

The hope was Vida would cure Alessia of a disease that forced her to spend much of her young life in hospitals.

She did.

Since receiving the transplant from her sister at Memorial Sloan Kettering Cancer Center in Manhattan in January, Alessia has been able to go to the beach and dance in the rain — two things that were previously off limits because they could have launched her into a debilitating pain crisis.

At the ocean, "she spent the whole day in the water," Rodriguez-Caraballo, 32, said. "She was so happy, she said, ‘I'm so cold, I am not feeling anything!’ ”

Rodriguez-Caraballo said she wanted to share her family's story to raise awareness of the disease and the treatment options that are available. Preimplantation genetic testing, or PGT, has been used in conjunction with IVF since the 1990s to analyze embryos for genetic conditions before they are implanted in a woman’s uterus. Cells from each embryo are removed and then tested.

In the Rodriguez family's case, those cells were first examined to determine if they had the sickle cell gene. Then the cells from embryos that did not have that gene were further tested to see if they would be a match for Alessia.

Specifically, they look for the  human leukocyte antigen — a molecule that makes up a person's tissue type, according to the National Cancer Institute. Before a person gets an organ or stem cell transplant, they are tested to determine if their tissues match.

Having a close match in HLA markers makes it less likely the recipient's body will reject the donation.

"We talked about success rates and different options for a transplant," said Dr. Maria Cancio, Alessia’s doctor and a pediatric hematologist oncologist at Memorial Sloan Kettering who specializes in bone marrow transplants and cellular therapy.

Transplants can be done from unrelated donors and parents. But she said, "If you have a suitable matched sibling donor, that's the best outcome you can look for."

100,000 with sickle cell

Alessia does not look like a child who has spent most of her life in pain. She smiles and laughs easily, especially when playing with Vida. She is a voracious reader who proudly shows a visitor her library of books.

She is one of the estimated 100,000 people in the United States with sickle cell disease, a genetic condition that causes her red blood cells to be shaped like a crescent instead of a flexible disc. As a result, it is more difficult for these cells to move through blood vessels and blood flow can be blocked, causing extreme pain. These episodes are known as a "pain crisis," but they are not the only complication a person with this disease could experience.

"About 10% of kids with sickle cell disease will develop a stroke," said Dr. Devina Prakash, a pediatric hematologist oncologist and director of the Hemoglobinopathy Center at Stony Brook Children's Hospital, who oversees Alessia's care.

"As they go into adulthood, they're more likely to have issues with their kidneys, their eyes. They can have chronic lung disease, such as pulmonary hypertension," Prakash said. "So despite everything we do, because of the sickling that blocks their blood vessels and they don't get enough oxygen to the organs over the years, they do get chronic organ damage."

People with sickle cell disease have a life expectancy more than 20 years shorter than that of the average person, according to national data.

Blood transfusions can bring temporary relief to patients, but too many can cause an overload of iron in their blood.

"It's just one of the most terrible diseases there is," Prakash said.

Millions of people around the globe have sickle cell disease, but it is especially prevalent in parts of Africa, the Caribbean, South America, Central America, Saudi Arabia, India and Mediterranean countries like Turkey, Greece and Italy, according to the U.S. Centers for Disease Control and Prevention.

In the United States, the majority of people with sickle cell are non-Hispanic Black or African American and a smaller percentage are Hispanic or Latino, CDC statistics show.

Managing daughter's pain

When Alessia was born in 2018, her parents were stunned to find out she had sickle cell disease.

Rodriguez-Caraballo grew up in the Dominican Republic, aware she was a genetic carrier for the disease, but odds were low that she would pass it to a child. Rodriguez, who is from Honduras, had no idea he also carried the gene.

"There is a big misconception that people who are light-skinned do not carry the trait," Rodriguez-Caraballo said, referring to her husband's lighter complexion. "We thought it only happened to people that look like me."

They learned quickly that a pain crisis in their daughter could be easily triggered by a number of factors including cold weather, dehydration and infections. Alessia's hands and feet would swell and she would cry in pain.

"When this comes about, the only thing you can do is manage the pain," Rodriguez-Caraballo said.

Medications and blood transfusions eased Alessia's symptoms for a while, but they always came back, resulting in numerous hospital stays. Rodriguez-Caraballo left her teaching job and started working as a social worker from home so she could have more flexible hours to help Alessia.

Doctors had spoken with the couple about having another child who could donate bone marrow or stem cells to Alessia. If they used IVF, the embryos could be tested to find out if they had the sickle cell gene and were an HLA match for Alessia. 

"In three months, she was in the hospital five times,"  Rodriguez-Caraballo recalled. "One day the doctor said, ‘You have been here an awful lot lately. Why are you not considering IVF yet?’ It didn't feel right and it's very expensive."

One cycle of IVF can cost between $15,000 to $20,000 or more, according to the U.S. Department of Health and Human Services, and stem cell transplant costs can vary but are generally around six figures. Insurance and foundations can pick up the bulk of costs, though families can be left with thousands in medical debt from copays.

But watching Alessia experience more complications and more trips to the hospital helped convince Rodriguez-Caraballo.

"I knew this is what it will continue to be if we don't do something about it," Rodriguez-Caraballo said.

The process is lengthy and physically difficult. After a round of fertility treatments, IVF, and the preimplantation genetic testing, only one embryo was an HLA match for Alessia.

Rodriguez-Caraballo went into labor in January 2024 while sitting with Alessia — who was struggling with one of her worst pain crises — at Stony Brook Children's Hospital. She was not due for another five weeks.

Vida was born the next day through cesarean section.

"During the next three days, my day consists of taking care of myself because I had just had a C-section, walking to the NICU to see Vida and feed Vida and then walking to the children’s hospital five times a day to see Alessia," she said.

Just a few months later, Alessia was back in the hospital even sicker than before. She needed to have her gallbladder removed.

"It was pure desperation that carried us," Rodriguez-Caraballo said. "Love and faith that things will be well."

The transplant

Doctors decided the transplant would take place about one year after Vida's birth in January. They would use the stem cells saved from her umbilical cord and extract additional stem cells from bone marrow in her hip, then have them transplanted into Alessia.

Before doctors could perform the surgery, the sisters both had extensive health screenings. Alessia had to undergo a grueling regimen of immunosuppression drugs followed by strong chemotherapy to make way for the new stem cells.

"That's a rough period of time because your immune system is as slow as can be," Cancio, Alessia's doctor, said. "Your blood counts are very, very low, so you need blood, you need platelets, you need medication to help with nausea ... you need a lot of things to prepare your body to receive the transplant and keep the transplant."

About 10 days after entering the hospital, Alessia received the stem cell transplant from her sister. Vida recovered quickly that day, "alert, drinking and playful" in recovery, Cancio recalled. But it would be another four weeks before Alessia could leave the hospital.

"It's not like having a kidney transplant, where on the day of the transplant, you get a new kidney," Cancio explained. "You have to wait about two weeks for that bone marrow to take. So that's anxiety provoking because you are waiting and you are very vulnerable."

With a weak immune system, Alessia was confined to her hospital room. She decorated it with family photos as well as red, purple and pink hearts. Other than hospital staff, only her parents and Vida could visit while her body slowly recovered.

When Alessia overheard her mother talking about the experience, she added: "I felt very stuck in the hospital."

"Then you see it," Cancio said. "The stem cells you put in are starting to become blood-forming cells for platelets, red cells and white cells to protect the patient ... She's cured of sickle cell — the transplant was a success."

She left the hospital four weeks after the transplant surgery.

Ethical questions

The use of preimplantation genetic testing among IVF patients in the United States has been "increasing steadily" and went from 14% in 2014 to 44% in 2019, according to the Society for Assisted Reproductive Technology.

In 2007, Newsday published a five-part series following the journey of another Long Island family who were pioneers using the same procedure. The Trebing family of Nesconset chose a bone marrow match for their daughter, who was born with a different life-threatening disease called Diamond-Blackfan anemia. That story also had a happy ending. Katie Trebing is now 22 and, in part due to her experience, is working in a nursing residency in the bone marrow unit at Emory University in Atlanta. Her donor sibling, Christopher, 20, is a junior playing lacrosse and studying business at Babson College in Massachusetts.

The practice has raised some ethical concerns among those who worry parents will select embryos based on sex or other physical traits, or for something like a kidney, which is more likely to cause permanent physical harm to a baby, said Arthur Caplan, a professor of bioethics at New York University Grossman School of Medicine.

He doesn't, however, oppose using genetic testing to find a bone marrow donor.

"This is doing genetic testing for a medical rescue, not to make a better baby," Caplan said. "But everyone has to go in with their eyes open. It may not work, embryos are likely destroyed, and it costs a lot of money. You want to make sure the family knows what all the options and risks are."

In 1987, Caplan helped create the National Marrow Donor Program, which collects donor information from volunteers and matches them with those in need of transplants.

"We knew that in trying to ask people to donate bone marrow, that it was going to be challenging. It is painful, requires a hospital stay — they put big needles in you to get the bone marrow. It’s not much fun.

"We also had to admit that even with good matches, bone marrow transplants are difficult; there were and are failures," he said.

Caplan said he would not be in favor of conception just to get an organ, such as a kidney, for a sibling or relative.

"I think people then start to say, ‘Well now, you're actually causing some permanent harm to the donor child who cannot consent.’ That’s a significant surgery," he said. Still, he said instances like that have happened, although they are rare.

 Rodriguez-Caraballo admits she carries some guilt about what Vida will think when she is older.

"I would never want Vida to think her life is just about this," she said, adding, "every step of the way, there was something that always told me, ‘You are doing the right thing.’ ”

Rodriguez-Caraballo wrote a children's book about Alessia's experience titled "Just Like The Moon," a reference to the crescent moon-shaped red blood cells, to create more awareness about sickle cell disease. Upbeat and with colorful illustrations, the book explores how the main character, 6-year-old Zoe, lives with sickle cell.

Rodriguez-Caraballo hopes to donate copies of the book to sickle cell clinics and hospitals.

"When Alessia was born, there wasn't a book on sickle cell for children that gave you a ray of light," Rodriguez-Caraballo said. "I want people to understand there is life after sickle cell."

Ten months after her transplant, Alessia is doing well and getting her childhood vaccines. This summer, she was able to go to camp and is getting ready for school. She also takes ice skating lessons, visits museums and spends time with her extended family without the fear of getting sick. 

"She really is living life," Rodriguez-Caraballo said." "Before, she was just surviving."

Newsday's Beth Whitehouse contributed to this story.