NEW YORK — For nearly a century, those with sickle cell disease have seen little in the way of new treatments. But now there is a potential miracle cure on the horizon.
One drug has mainly been used until now. And while those with the disease are living longer, they struggle with pain management, a lack of doctors to treat them, and the decision to get a bone marrow transplant and find a suitable donor.
Arcelis Batista, 30, of the South Bronx is blunt when talking about the ordeal:
“In 2012, I almost lost my life. It was scariest thing I went through,” Batista said. “The doctor said, ‘Your body can’t take so many crises.’”
The first thing you notice is Arcelis strains to speak, a side effect of the attacks her lungs have suffered over the years. But she considers herself a sickle cell warrior — lucky to be alive after being driven to risk her life for a cure.
So when Arcelis’ brother tested as a perfect bone marrow match, she did the only thing she could, and got the bone marrow transplant.
But it’s a risky procedure for an adult—some don’t survive, and she had to go through a significant amount of chemotherapy.
“I felt horrible. It was a very, very difficult time for me waiting for my transplant,” Arcelis said of her spring spent in the hospital.
Bon marry transplants have only recently been made available for adults, explains Dr. Jeffrey Glassberg, who runs the Sickle Cell clinic at Mt. Sinai hospital.
“… Because it’s safer in kids. Kids can tolerate more strong chemotherapy,” he said.
New York has the largest group of the country’s 100,000 sickle cell patients, and Glassberg says big improvements have come over the past few decades.
“In the ’70s life expectancy was about 18. Now we quote them in their 50s,” he said.
But these gains don’t come without larger problems, such as not having enough doctors to treat all these surviving adults.
Another result is patients having to deal with the long-term effects of sickle cell disease, like pain, and frequent hospitalizations.
That pain can hinder many aspects of life, including family life.
Demetra DeFeo is a social worker, a newlywed, and hopes to have a family, but knows she has to constantly monitor her fatigue levels and plan carefully to avoid stress.
She’d like to get a bone marrow transplant, but the chemotherapy would likely take away her chances of conceiving so she works through the pain and fatigue and watches to see progresses in treatment.
“I have some likely spots on my kidneys now,” she worries.
And Doris Polanco, a mother of two, says looks can be deceiving.
“So many people say, ‘But you don’t look sick,’ and I tell them if I looked like I feel I would scare you,” she says as her eyes well up with tears.
Polanco describes episodes of not being able to push her child’s stroller the last three blocks, of how clapping for her sister’s graduation created a flare of pain that lasted days.
She also thinks of the bone marrow transplant, but wonders if she could survive it — if the burden of caring for her children for months or more would be too much on her family.
Yet there is a potential miracle cure on the horizon — a new form of gene therapy that’s been successful in a handful of patients.
Dr. Glassberg describes the new gene therapy, being overseen by the National Institutes of Health:
“With gene therapy you get your own marrow — they take your own marrow out, fix it and give it back to you.”
Fewer than 20 people have gone through the treatment, but all with good results.
It’s a cure that can’t come soon enough for the patients struggling with daily fatigue and pain and complications that have them spending far too much time in the hospital.
For more information on treatment in New York, you can reach the Mt. Sinai Sickle Cell program at 646-895-0703 or email@example.com