Sickle Cell Awareness Month: Breakthrough treatments on the horizon

Naziere “Naz” Evans is a busy young man.

When he’s not working at the UPS store, the 20-year-old Burnsville resident is baking chocolate chip cookies, building with Lego, watching Marvel movies, and hanging out with his three younger siblings.

Evans also has to be prepared to put it all on pause when a crisis with his health arises. Diagnosed with sickle cell disease at birth, he has lived with chronic pain and has had frequent hospitalizations throughout his young life.

September is Sickle Cell Awareness Month, but Evans and his family don’t need a special month to be aware of this inherited blood disorder.

“It has shaped my life. It gets in the way of things you want to do. I was in and out of school and it hard to keep up,” Evans said. “I want to be an engineer but it would be hard to go to college.”

But a medical breakthrough could change the future for Evans and other people with sickle cell disease. He recently qualified to be in a clinical trial for a gene therapy treatment that could put the disease behind him.

“There’s going to be a lot of discomfort with this but I’m prepared. Everyone in my family is nervous but I’m excited,” Evans said.

Sickle cell disease remains the nation’s most common inherited blood disorder; it is more common in people whose families come from African or Caribbean countries. The Centers for Disease Control and Prevention calculates that sickle cell disease occurs in about one of every 500 Black or African American births.

In a person with sickle cell disease, red blood cells are shaped like a sickle, or a ‘C’, while normal red blood cells are shaped like a disc. It is difficult for their red blood cells to move through small blood vessels and they can get stuck, form clumps, and ultimately block their blood vessels.

Sickle cell disease is painful. Other medical complications include acute chest syndrome, eye problems—including vision problems and blindness—kidney and other organ failure, spleen function problems, stroke, and a shortened lifespan.

Children’s Minnesota Cancer and Blood Disorders program cares for more than two-thirds of Minnesota children and adolescents with blood disorders, including sickle cell disease.

Up until now, a stem cell transplant has been the only approved therapy to cure sickle cell disease. It is effective only among a very small number of sickle cell patients.

But gene therapy treatment, like the procedure that Evans will undergo in a clinical trial, may soon offer new options and the potential for a cure for patients living with the disease.

“We are still in the midst of the clinical trials but we are on the verge of having an FDA-approved gene therapy that will be widely available, maybe later this year or early in 2024,” said Dr. Stephanie Fritch Lilla, hematologist and medical director of Children’s Minnesota sickle cell program. The program cares for some  340 children, teens, and young adults from Minnesota and western Wisconsin.

Children are born with sickle cell disease and in the U.S., all babies are tested at birth for sickle cell anemia. The disease is diagnosed with a blood test. Early diagnosis can help protect infants with sickle cell anemia from developing certain serious infections.

“For the past four decades, we have had one treatment option, one medication for sickle cell. In the past three years, we’ve seen rapid advancement and other medications have become available,” Dr. Fritch Lilla added. “We are finally starting to get some momentum on better therapies for these children. For so long this has been a neglected medical condition.

Dr. Fritch Lilla said she is hopeful that new treatments will make a difference in the lives of her pediatric patients.

“Working with children in so much pain is heartbreaking but kids are so resilient; they rebound. It’s inspiring to work with them,” she said.

Evans is scheduled to be hospitalized in both October and December when he undergoes complex procedures to collect his bone marrow. It will be filtered and then his own modified bone marrow will be put back into his body, eliminating the sickle cells.

Evans is already imagining what his life might be like in the future. “With sickle cell, certain things can trigger a pain episode, like stress or the cold. I can’t go swimming because swimming pools are cold but in the future, I hope I can do what I want to without worrying about my body,” he said.

His doctors and longtime care providers are pulling for him.

“Naz is a fine example of someone who just pushes through the pain crises. We say he’s a sickle cell warrior,” said Dr. Fritch Lilla. “He has such a drive to not let the disease define him. He gets knocked down and gets back up. He has taught our team so much.”

Children’s Minnesota is in the midst of its annual Shine Bright for Kids fundraiser. It directly supports the Children’s Minnesota Cancer and Blood Disorders program, which cares for those with sickle cell disease.  To find out more, go to www.childrensmn.org/shinebrightforkids.