Sickle Cell Disease: Naomi's Story

Naomi has been dancing since she was 3. Though the difficult moves and practice schedule cause her more pain and exhaustion than most children, Naomi keeps dancing — ballet, pointé, jazz, modern.

“When she joined the company it was so grueling, and she had her turns with ‘I don’t think I can do it,’ but she pulled herself up,” says her mom, Rhonda. “She would say, ‘Let me get through this. Let me keep moving.’”

Naomi, now 13, was born with sickle cell disease, an inherited blood disorder that can cause stroke, pain, infections and other symptoms. Approximately 1 in 375 African-Americans in the United States is born with the disease. It also affects people of Mediterranean descent.

Red blood cells have the important job of delivering oxygen throughout the body. When a person has sickle cell disease, their red blood cells are a sickle shape and don’t move through blood vessels as easily as normal red blood cells, which are rounder and more flexible.

Symptoms occur when the “sickle” cells aren’t able to deliver enough oxygen to the brain, bones, muscles, lungs and other parts. Because of the severe problems it can cause, the life expectancy for people with sickle cell disease is 42-48 years of age.

Diagnosed before birth

Rhonda and Kevin both have sickle cell trait, which means they don’t have the disease but are carriers. They found out Naomi had the disease through genetic testing when she was still in the womb.

“I think I cried for days,” Rhonda says. “I was devastated.”

The soon-to-be parents began researching the disease. “It was tough,” Kevin says. “We began to understand what it was going to be like. So we started making calls, to be prepared to receive that child.”

When their baby was born, the family knew where they would take her for care: Children’s Hospital of Philadelphia (CHOP). The Comprehensive Sickle Cell Center at CHOP, with more than 900 patients, is one of the largest such programs in the country.

Advances in treatment

Just 30 years ago, children with sickle cell disease often died at a very young age. Advances in treatment have improved quality of life and expected life span. For a lucky few patients, there is a cure: bone marrow transplant. But because finding a donor match is so difficult, this is an option for less than 10 percent of patients.

But a breakthrough is within reach: a cure that would take place before birth.

Alan Flake, MD, a surgeon and scientist at CHOP, and his team have spent more than 30 years investigating a therapy in which stem cells would be taken from a pregnant woman’s bone marrow and transplanted into the bloodstream of her affected fetus. The mother’s healthy cells would circulate and multiply, and by the time the baby was born, so many healthy cells would be in the bloodstream, the child would experience no symptoms of sickle cell disease.

In addition to the continuing research into a fetal cure, doctors at CHOP have helped lead advances that have greatly improved quality of life, including blood transplants to reduce the risk of stroke and the use of a drug called hydroxyurea.

Finding the right team at the right place

From their first meeting with Kim Smith-Whitley, MD, medical director of the Center, the family knew they were in the right place.

“I think the first few visits all I did was cry,” Rhonda says. But Smith-Whitley and the team provided reassurance to the new parents in one of the best ways possible: with a detailed plan for how to care for their baby and minimize her risks.

Because children with sickle cell disease are susceptible to life-threatening infection, they require daily doses of penicillin. At the first sign of fever, the child must come to the hospital immediately for IV antibiotics. The parents kept Naomi away from pools and playgrounds. And wherever they went, they had a route mapped to CHOP.

“I always had a bag ready,” Rhonda says. “We were always on the alert.”

Naomi spent many days at CHOP in her first few years of life.

“There were times she spent weeks in the hospital,” Kevin says. “In those early years, it was very challenging.”

“I feel forever indebted to CHOP for making us feel at home. I remember there was one instance where she had to spend her birthday in the hospital,” Rhonda says. “I was like, ‘Oh my goodness, it’s terrible that we have to be here on her birthday,’ and one of the nurses overheard. About a half-hour later they came in with balloons and cake and started singing ‘Happy Birthday.’ It just brought tears to my eyes.”

Continuing care

Naomi requires fewer hospitalizations now. She continues to see her team at CHOP regularly for check-ups.

“They care for you and they make sure you’re all right and they give you what you need, like your medicine,” Naomi says. “I just love them.”

“Our goal is to get them back to that safe place, that happy place, where they can accomplish all the things that they want to accomplish,” Smith-Whitley says. “That’s what motivates me. These children are bright lights and they are wonderful in their potential.”

Defining herself and her future

Naomi is a very bright light. Because of her devoted family and expert healthcare team, and her own formidable strength, she is thriving.

“She is a powerful person,” Kevin says. “She has an internal strength that I want to be a part of and anyone who meets her wants to be a part of.”

Naomi has many friends and excels in academics, rarely missing school. And she is already focused on a career: becoming a nurse to help children. She's also begun taking hydroxyurea, which has improved her energy. 

“She is doing so well that sometimes I forget that she has the disease,” Rhonda says. “We’re able to breathe a little more and give her more space and allow her to grow and be who she can be. The disease does not define her — she defines herself.”

“I want people to know that I love sports,” Naomi says. “I love throwing a football. I love doing dance and pointé and sometimes it hurts my toes, but I still get through it. I would say stay strong and you’re going to get through the hard times and get to the good times. And don’t say you’re going to live short, because you’re going to live long."