Last spring, we introduced you to Emir Seyrek, who was born with Wiskott-Aldrich syndrome (WAS), an inherited disorder that causes a child to have a poorly functioning immune system and difficulty producing platelets—the blood cells that keep bleeding under control. Until he reached age 2, Emir bled easily and suffered from severe eczema and infections.
In 2013, when Emir was two years old, he and his mother traveled from Turkey to take part in a clinical trial of a new gene therapy treatment for WAS at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. At that point, he had extremely low platelet counts and had been in and out hospitals in Turkey. Within a week of arrival in Boston he suffered a fall and had a skull fracture and potentially life-threatening internal bleeding.
The gene therapy trial—run by Dr. Sung-Yun Pai—replaces the broken WAS gene in a patient’s blood cells. Physicians collected stem cells from Emir’s blood, mixed them with a vector—a virus carrying a working copy of the WAS gene—and then injected the corrected stem cells back into Emir. After his gene therapy treatment, Emir’s platelet levels began to rise. He was sent back to Turkey after seven months in Boston, with high hopes that his platelet level would continue to improve.
Emir is now back at Dana-Farber/Boston Children’s for his annual checkup.
His platelet count before gene therapy was between 24,000 and 29,000. The goal of the trial was to get him up to 50,000 at which point he could play contact sports. Today, his platelet count is at 148,000.
“Emir is the star of the trial. He has the highest platelet count of all of the children who have gone through gene therapy with this vector so far,” says Dr. Pai. “His immune function is excellent, and we have no worries whatsoever from a bleeding standpoint. He’s perfectly safe to play like a normal child.”
As they wait to get blood drawn, Emir’s mother Kadriye watches her son run around the playground with boundless enthusiasm. “All day long, he has so much energy!” she says, offering Emir a bite of banana to keep him going. Kadriye is relieved the appointment went so well and looks forward to heading back to Turkey in a week.
Find out more about gene therapy at Dana-Farber/Boston Children’s.