Born with “bubble boy” disease, 4-year-old has normal life after gene therapy

Seated in an exam room on the sixth floor of Boston Children’s Hospital, Sung-Yun Pai, MD, speaks mother-to-mother—not doctor to patient’s mother—with Marcela Caceres, who has just asked whether she should take extra precautions if her 4-year-old son Agustin is exposed to chickenpox. The answer is no. “I’m a mother too, and a good mother also knows when to back off,” Pai tells her. “It’s important for him to have a normal life.” “It’s hard for me to really accept that that’s the case,” Caceres says, “but I’m working on it.” If Caceres has trouble shedding her instinct to over-protect, it’s for good reason. Agustin was born with X-linked severe combined immune deficiency (SCID-X1)—“bubble boy” disease—and it can be difficult for Caceres to believe that the gene therapy Agustin had four years ago has cured him of the illness that killed her first-born child, Ivan, in 1999 at the age of 5 months. The Caceres family has come to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center from their home in Buenos Aires for Agustin’s annual post-treatment checkup, which is conducted with the aid of an interpreter. Boys with SCID-X1 have no functioning immune system because their bodies fail to produce T-cells, the white blood cells that are critical for fighting disease and infection. Marcela and Alberto Caceres’s second child, 8-year-old Jeremias, was tested at birth and did not have the disease, but Agustin, also tested at bir...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Cancer Our patients’ stories Source Type: news