Meet the Valley Stream boy who became first in state to undergo groundbreaking gene therapy

Behind a Mickey Mouse mask, 8-year-old Yusuf Saeed with a bald scalp, a likely result of his intensive chemotherapy, sat in the glare of cameras on April 18. With elation in his eyes, he played with his toy dinosaurs, sitting beside his mother and his doctors, seemingly unbothered by the full weight of the moment. Yusuf became the first person in the state with beta thalassemia to be treated for his condition using novel gene therapy.

Since he was a month old, Saeed of Valley Stream has been under the careful watch of Cohen Children’s Medical Center doctors, Dr. Banu Aygun the center’s associate chief of hematology, said.

Saeed suffers from a severe case of beta thalassemia, an inherited blood disorder. Roughly 1,200 people in the United States have beta thalassemia, a condition where the body can’t make enough “normal, adult” hemoglobin. As with Saeed, the disorder ties you to a lifelong dependence on blood transfusions administered roughly every two to five weeks. Even under the best of circumstances, a life of routine treatment to stay alive is far from normal and, as Aygun explained, has its drawbacks.

“If you think about a person’s lifespan, it is an expensive treatment,” said Aygun. “It’s also a quality-of-life issue because when you become an adult, you have to take time off work to get the transfusions. Whenever Yusuf’s family traveled, they’d have to come back every three to four weeks to give him his transfusions.”

Another consequence of constant blood transfusions, noted Aygun, is elevated iron levels in the bloodstream which must be dampened by special medication.

Until recently, the only widely known cure for the rare disorder was a bone marrow transplant where the diseased person’s bone marrow stem cells, which give rise to blood cells, are replaced with those of a healthy donor. The ideal candidate is that of a sibling.

It’s not a failsafe procedure. Recent studies report a survival rate ranging anywhere between 66 percent to 99 percent.

Saeed’s mother, Yusara Ahmed, watched her sister undergo the same ordeal her son was now experiencing. Her sister was ultimately spared of the disorder through a bone marrow transplant. Maybe Saeed, who has a sibling, and was at the ideal age to receive the transplant, could be spared the same way. 

“Yes, Yusuf has a twin sister,” noted Aygun.

But any hope was quickly snuffed. “We checked her immediately, but she was not a match,” said Aygun. “Unfortunately, we could not find any donor matches for Yusuf.”

New hope years in the making

Saeed spent his early childhood with the disease, but Ahmed was told about an experimental new gene therapy showing enormous promise. Doctors were confident it was only a matter of time before it received approval from the Food and Drug Administration.

“It was Dr. Aygun who gave us hope about this new gene therapy treatment, and we placed our faith in her and Cohen,” she said.

When the FDA gave Bluebird Bio, the Massachusetts-based biotech company, the go-ahead to sell the treatment called Zynteglo, Ahmed knew they’d take the chance on the new therapy if given the opportunity.

Soon enough, her son was chosen as the first of a lucky few in the state. The family’s health insurance agreed to cover the cost of the bill for the treatment: a whopping $2.8 million. The medicine’s high cost is partly the reason for its limited roll-out.  “The insurance companies are not readily approving it,” said Aygun. “They’re approving it for transfusion-dependent patients.”

The other part is the logistical burden the treatment places on medical centers. Patients need an expert level of care for a procedure that as Aygun described “requires a very well-established” hematology program as well as stem cell transplant program.

How does the gene therapy work?

Doctors collected stem cells nestled in Saeed’s bone marrow that were extracted and genetically modified in a lab, correcting the mutated gene by replacing it with healthy copies capable of producing healthy red blood cells, explained Aygun.

Before those new cells could be infused into Saeed, however, powerful chemotherapy wipes away any remaining bone marrow stem cells. Saeed’s family steeled themselves for the chemotherapy treatment which began in January. Saeed stayed in the hospital while he waited for his new cells to grow under the careful watch of the medical team to prevent any risk of infection or unforeseen side effects.

“The process was pretty smooth, but there were days where he would look out the hospital window crying, missing his sister Mirha who was too underage to come into the hospital,” said Ahmed.

Despite the whole grueling process, the results were worth the wait and effort, noted Ahmed and her son’s doctors couldn’t agree more.

“He has not needed a blood transfusion since then,” said Aygun who was excited about how similar versions of the gene therapy could be used to help cure patients with other blood disorders.

“This treatment is also approved for people with sickle cell disease, so that will be the next group of patients that we will start treating with this treatment,” said Aygun. “The reality is this treatment took decades to become reality. But I’m glad for Yusuf, and he’s doing so well.”

Have an opinion on this article? Send an email to jlasso@liherald.com.