WashU Medicine and St. Louis Children’s Hospital are the first in the area — and among merely a handful of academic institutions in the U.S. — to start providing a newly sanctioned gene therapy to remedy sickle cell disease. Martin Mwita Jr. (right) journeyed with his mother from their residence in Nebraska to St. Louis to receive the groundbreaking treatment. (Video: Huy Mach/WashU Medicine)

Martin Mwita Jr.’s distress began when he was only an infant, with painful swelling in his hands and feet, often one of the earliest signs of sickle cell disease. By the time he had reached his first birthday, he had been hospitalized multiple times due to the condition. At merely 19 months old, he experienced strokes and severe blood-vessel clogs in his lungs, leading to serious complications that left him in a coma.

“We feared we had lost him,” reflected Mwita’s mother, Jacinta Mwita, about her then-toddler son. “However, after three weeks in a coma, his eyes opened. It was a miracle!”

Martin Mwita, now 21, was born with sickle cell disease, a potentially fatal condition that causes his red blood cells to become sticky and prone to aggregation, obstructing blood flow and oxygen from reaching his muscles and organs. This oxygen shortage results in intense pain episodes known as crises, as well as strokes and organ harm. Monthly blood transfusions offer temporary alleviation of symptoms by introducing healthy red blood cells but can bring about complications such as infections.

Mwita was diagnosed just a few days after birth, and doctors predicted he likely wouldn’t survive beyond age 35 due to the scarcity of his normally shaped red blood cells capable of transporting oxygen throughout his body. As a child, routine activities like running or cycling could prompt sudden, intense pain, leading to frequent hospital stays that eventually became too many to count. Exposure to summer heatwaves or winter chills could also result in painful crises. Mwita — who possesses a natural musical talent — still recalls breaking down in tears when he couldn’t participate in the high school marching band, a physically taxing pursuit often performed on sweltering days. The danger of medical complications and pain crises due to dehydration was too significant.

Now, Mwita has been granted a shot at a cure and the chance to exist without the tormenting pain that has overshadowed his young existence.

He recently became the first patient in the St. Louis area to undergo a gene therapy recently approved by the Food and Drug Administration (FDA) for sickle cell disease. Washington University School of Medicine in St. Louis and St. Louis Children’s Hospital are among only a few academic medical centers in the U.S. that have initiated offering this treatment. Shalini Shenoy, MD, a pediatric professor at WashU Medicine and an esteemed pediatric hematologist and oncologist at Siteman Kids at St. Louis Children’s, spearheaded the implementation of the intensive treatment.

“We could not have envisioned curing sickle cell disease with gene therapy even a decade ago, when we were conducting stem cell transplants with cells obtained from compatible donors to heal patients,” stated Shenoy, who manages patients with blood disorders. “It’s a monumental progress to be able to capture a patient’s own blood-making stem cells and genetically alter them before reintroducing them into the body in such a manner that promotes the production of healthy red blood cells. For Mwita, this treatment signifies a life outside the hospital, free from concern about the next pain crisis disrupting school, hobbies, and future ambitions.”

Explore the full narrative on the WashU Medicine website.

The article Region’s first patient receives sickle cell gene therapy was first featured on The Source.