#parents | #teensvaping | The Weekly | A Teenager’s Breakthrough Gene Therapy for Sickle Cell Disease

Her older sister, Haylee, will start college in Arizona soon. She wants to be a social worker.

For the first time since Helen was a baby, Sheila and Byron say they’re not stressed about their daughter’s health. “It’s a big weight lifted,” Sheila said. “Now I feel comfortable with her leaving for college.”

Since gene therapy is expensive, and there aren’t enough facilities that can successfully treat patients with sickle cell disease, Dr. Orkin says that, before he retires, he hopes to develop a daily pill that can flip the hemoglobin switch the way the genetic treatment did for Helen.

It’s a blood disorder caused by a single mutation in one errant gene that causes blood cells stuffed with hemoglobin to be distorted into sickle shapes. These cells get stuck in blood vessels, causing strokes, organ damage and episodes of agonizing pain — called crises — as muscles are starved of oxygen. The disease can vary in severity, but those with sickle cell may suffer chronic pain, permanent organ damage and frequent infections.

Worldwide, about 300,000 infants are born with the condition each year. The disorder is most common in sub-Saharan Africa, where an estimated 70 percent of children with sickle cell die before adulthood. Most sickle cell disease carriers have African ancestry, but Hispanics, like Helen, and those with Southern European, Middle Eastern or Asian backgrounds are also affected.

Experts have argued that advances in treatment may have been limited partly because sickle cell disease is concentrated in less affluent minority communities.

The Food and Drug Administration approved two new treatments for sickle cell disease late last year, the first in 20 years. The drugs are revolutionary but wildly expensive. Each treatment is priced at around $100,000 a year and must be taken for life. About 30 more sickle cell drugs are now in late-stage clinical trials. At the moment, the only remedy for sickle cell disease is a dangerous and expensive bone-marrow transplant, an option rarely used.

In a half-dozen clinical trials planned or underway, researchers are testing gene therapy to find a cure for sickle cell disease. Already a handful of the enrolled patients no longer show signs of the disease.


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