Sickle Cell Disease: Nadir's Story

Nadir is a curious, helpful kindergartner who loves to color, watch football and bug his 16-year-old sister. His mother, Heather, takes joy in watching him grow and in knowing he has a bright future.

Nadir has sickle cell disease. He will face challenges, but his mom knows he will have help at every step from The Children's Hospital of Philadelphia.

"CHOP does everything they can to make the kids comfortable and not feel that their disease is something they have to be ashamed of or something that limits them," Heather says. "I'm so grateful for that."

Sickle cell disease affects more than 80,000 people in the U.S. alone. Instead of soft, round red blood cells, people affected by the disease have hard, crescent or "sickle" shaped cells. This impairs the ability of the cells to carry oxygen to the organs and causes blockage and scarring in veins and other blood vessels.

The disease can cause fatigue, infections, periodic episodes of pain, organ damage, stroke, and a lung disorder called pulmonary hypertension, which can lead to heart failure.

Diagnosed as a newborn

Nadir was diagnosed as a newborn and began coming to CHOP almost immediately. The Comprehensive Sickle Cell Center here is one of the largest in the nation, caring for more than 1,000 children and adolescents. Many advances in care in the past decades, such as MRI screening for stroke, have made a huge difference for children with sickle cell disease.

Today, children like Nadir can expect a much higher quality of life than those born just a generation ago.

CHOP is also pioneering research into new treatments, including a promising procedure that may one day represent a cure for sickle cell disease: in utero bone marrow transplantation using the mother's cells. If this fetal therapy proves successful, the child would be born without any symptoms of sickle cell disease.

Blood transfusions to reduce stroke risk

When he was 2, MRI screening showed that Nadir was having silent strokes. The CHOP team started blood transfusions, which reduce the risk of stroke by replacing some of the child's blood with blood from a healthy donor. At least once every three weeks, Nadir visits CHOP for transfusions, which can take three hours.

To pass the time, he does normal kid stuff — making crafts, watching movies and playing games, moving his IV pole along with him. Heather plans her work schedule to take the day off so she can be with her son.

The vigilance of their families, together with an outstanding medical team, is of utmost importance to children with sickle cell disease. Since the first appointment, Heather has felt a sense of great partnership and support from Nadir's team at CHOP.

"They helped me to better understand the disease and what I was to look for as warning signs when Nadir was getting sick," she says. "They also showed me how to make my family and other people who spend time with Nadir aware of the disease, so we are all on alert."

Family education at CHOP's Sickle Cell Center

Educating families is an important part of care at the Comprehensive Sickle Cell Center. Nadir takes penicillin every day to prevent infections, and any time he runs a fever, his mother brings him to the Emergency Department at CHOP, where he'll be hospitalized at least 24 hours for high-dose antibiotics.

"As soon as he has a fever, I get him in the car and I'm on my way," Heather says. "I keep a bag packed in our closet."

"I'm very happy with the care that Nadir gets at CHOP," she says. "Everybody is so helpful. They make Nadir as comfortable as possible. They also answer all of your questions and there is always someone there when you need them.

"The whole team at CHOP has been amazing and has made such a difference in Nadir's life. It's exciting to think that the place he receives such great care might one day be the place a cure for sickle cell disease is found."