The life of Evie Jr. Defined by pain. He was born with sickle cell disease. This makes the red blood cell smooth and not round, sticky and he C-shaped. These cells are thought to move freely within the blood vessels and carry oxygen to the body. But in people with this hereditary anemia, they gather together and block blood flow. The disease can damage organs over time, causing stroke and early death.
People with sickle cell disease are often fatigued because their red blood cells die quickly, cutting off oxygen to the body. Strenuous exercise, sudden temperature changes, and dehydration can also trigger pain attacks. Growing up in the Bronx, New York City, Junior recalls being prone to wine sickness and being careful when playing sports or swimming. The pain was so great that he often missed school.
As an adult, it wasn’t easy. Occasionally, he would ease the pain with ibuprofen and be back at work the next day, but every few months a serious crisis would send him to the hospital. As things got worse, in 2019 he joined a clinical trial at the University of California, Los Angeles testing a gene therapy to cure sickle cell disease. This involves genetically manipulating a patient’s hematopoietic stem cells in the lab so that they can produce healthy red blood cells. This procedure is experimental. Junior knew things could go wrong. “It felt like it was time for a Hail Merry,” he says. “My life up until then was sick.”
In July 2020, he received one injection of his own modified stem cells. After three months of treatment, he had the intended change in his 70% of blood cells. This is far beyond the threshold required to eliminate symptoms. Since then he has not had a bout of pain. He can do more outdoor activities and not have to worry about losing his job.He plans to go skydiving soon. It’s something he never dreamed he’d ever dreamed of. “My quality of life is so much better now,” he says.
Junior, now 30, is one of dozens of sickle cell patients in the US and Europe undergoing gene therapy in clinical trials. Some are led by universities, others by biotech companies. One from Bluebird Bio and two such treatments from Crispr Therapeutics and Vertex Pharmaceuticals are the closest to reaching the market. Both companies are currently seeking regulatory approval in the United States and Europe. If successful, more patients could immediately benefit from these treatments, but access and affordability may limit who gets them.
Cheryl Mensah, a hematologist at Weill Cornell Medicine and New York-Presbyterian Hospital who treats sickle cell disease in adults, said: “The number of adults with chronic pain and fatigue will decrease if more patients, especially younger ones, receive curative treatment.”
sickle cell disease It affects approximately 100,000 people in the United States and millions worldwide. Although the majority are of African descent, the disease also affects Hispanics in Central and South America, as well as people of Middle Eastern, Asian, Indian, and Mediterranean descent.
