Strokes common in children with sickle cell disease

With few exceptions, Antwon Thornton is a typical 6-year-old, forever moving and dreaming of football.

But Thornton, a brown-eyed Jonesboro first grader, was born with sickle cell anemia, a genetic disorder with unpredictable complications that causes the red blood cells to assume an abnormal sickle shape, making it difficult for blood to flow through vessels and deliver oxygen throughout the body.

And so for much of his young life, he has suffered from debilitating pain and recurring infections.

Both his mother Nicole Coverson and grandmother Rita McClendon expected that. What they hadn’t counted on, however, is that little Antwon would experience his first stroke before he reached his second birthday.

“We were completely surprised,” Coverson said recently. “He’s the youngest person I know to have had a stroke.”

It happens. Often, doctors say.

Although stroke is a condition we associate with older adults – not a toddler - children with sickle cell anemia can develop a stroke around the time of their fifth birthday, said Dr. Peter Lane, professor of pediatrics at Emory School of Medicine and director of the Sickle Cell Program at Children’s Healthcare of Atlanta.

Children’s Sickle Cell Program, considered the largest in the country, treats as many as 1,700 children annually from birth to age 18.

“We’ve known for decades that kids with sickle cell anemia have a much higher incidence of stroke,” Lane said. “It’s at least 300 times more than what it would be for other children.”

Lane said that historically, 10 to 12 percent of all kids who have sickle cell anemia experience a stroke during childhood. The brain attack can mimic the same symptoms as in an adult and leave children with the same permanent neurological problems.

“The other big concern is that 15 to 20 percent of kids with sickle cell anemia, even without an overt stroke, can have neurocognitive damage, where they have some impairment in learning ability as a result of the disease affecting the brain,” Lane said. “Some people call that a silent stroke so actually brain injury for sickle cell is a major problem and has been for years.”

Antwon, who inherited the disease from both his parents, was just shy of his second birthday on Nov. 16, 2009, when he experienced his first stroke, his grandmother said.

McClendon said it didn’t appear Antwon was having a pain crisis but the infant, who was on an oxygen machine at the time, was struggling to breath.

When he arrived at the hospital emergency room, doctors said he was in the beginning stages of stroke. Before long, he couldn’t move the right side of his body.

Nearly five years later, McClendon and Coverson said Antwon is still fighting his way back. Once a month, he must undergo blood transfusion to prevent another stroke. Regular transfusions slow down the body’s production of sickle cells and raise the red blood count, reducing the risk of another stoke.

Until they can find a bone marrow donor, they say, the transfusions provide Antwon the only hope there is.

According to his hematologist, Dr. Beatrice Gee, Antwon and other children with severe sickle cell complications have very time-consuming treatment plans. “It’s really amazing how hard families work to keep the many appointments that the children need, while maintaining school attendance and helping the children be happy and well-adjusted,” she said.

Although stroke in sickle cell patients is pretty rare before age 2, the risks go up after that, Lane said.

The good news, he said, is since the late 1990s doctors have been able to identify children who were at risk for stroke using a specialized ultrasound known as transcranial Doppler testing. Today, all children who have sickle cell anemia are screened routinely starting at age 2, and those who are found to be at risk are treated with monthly blood transfusions like Antwon, which can help reduce the risk of stroke by at least 80 percent.

Indeed, such screening techniques and early intervention therapies have sharply lowered the mortality rate in children with sickle cell disease, Lane said. Today, about 90 percent of children make it to adulthood.

While it is estimated some 7,000 Georgian’s suffer from sickle cell disease, Lane suspects the number is much higher.

“Nationally we think there are 100,000 kids and adults in the U.S. who have sickle cell disease and about 2,000 infants are born with sickle cell every year in the United States,” he said.

Lane said that new guidelines issued in early October by the National Institutes of Health, are an important step forward because they will make more clear to healthcare providers, including primary care physicians, what the essential elements of care are.

For instance, Gee said the guidelines suggest that all children with sickle cell anemia may benefit from hydroxyurea treatment beginning around age 1. They also include age-based recommendations that focus on the overall health of the individual, including routine screening for developmental issues, adolescent health, and cardiovascular risk factors, and they offer simplified schedules for screening for organ injury.

Lane said that new therapies hold promise not only to ease symptoms but also to prevent future complications.

But he worries that many sickle cell patients, especially adults, won’t get the recommended treatments because of the state’s refusal to expand Medicaid.

“That ensures many with sickle cell disease won’t have access to the health care they need,” he said.