ROCHESTER, N.Y. – Researchers at Golisano Children’s Hospital have received a multi-million-dollar grant to lead a first-of-its-kind study comparing the effectiveness of treatments for sickle cell disease. More than 90% of people living with sickle cell are Black and hundreds rely on the clinic that specializes in treating it, right here in Rochester.

Sharee Turpin was diagnosed with sickle cell as a baby.

“I didn’t notice just how severe this disease was until about high school or maybe undergrad, you start to see the problems kind of come to the forefront, pain being the hallmark of sickle cell,” Turpin says. 

 The disorder affects the shape of the red blood cells that carry oxygen in the body causing frequent severe pain, trouble breathing and swelling.

“It’s excruciating, beyond excruciating… the pain scale when they ask you 1 to 10 doesn’t work for us, it’s like 17, 30, it is bone-crushing,” says Turpin.

Dr. John Horan, a pediatric blood and marrow transplant surgeon at Golisano, says a bone marrow transplant from a matched sibling can cure the disease, but Turpin, for example, is an only child. There are new gene therapies that are promising too but not everyone will qualify. So, there are also other medications that are used to manage it as children become adults.

“With time, pediatric sickle cell disease really evolves into something that’s much more severe and debilitating for many adults so, some parents opt to do bone marrow transplant when their children are young,” says Dr. Horan.

That’s where the new study comes in. It will recruit nearly 500 kids, teens and young adults with sickle cell and follow them for three years– assessing which treatment they get, at what age and how it helps.

“Looking at the 5-year-old versus the 15-year-old, looking at the patient who is severely affected, versus a patient who is less severely affected to try to provide patients and families with information they need to make an informed decision about whether a bone marrow transplant would be right for their child or if it’s a teenager or young adult, whether it’s right for them,” Dr. Horan explains.

Turpin will be working as a family liaison during the study. “I finally feel like we have a voice, we have input in our health care. For so long we have told people what we go through and it falls on deaf ears sometimes so, this gives us a chance to not only say what we want, say what we need and explain what’s been done wrong and how we can change that,” she says. 

The study is funded by the Patient-Centered Outcomes Research Institute which receives some federal funding but the money does not come from the NIH and researchers have been assured the funding is secure.

Golisano is recruiting participants for the study right now, talk with your doctor if you think you might qualify.

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