Stories about: bubble boy disease

Newborn screening and gene therapy save baby from ‘bubble boy’ disease

Baby with "bubble boy disease" pictured with his family
Levi with his Dad, Phillip, and Colton with his mom, Kala (photo by Amie Van Amberg)

Happy to have given birth in January 2015 to two seemingly healthy boys, Levi and Colton, after an uneventful pregnancy, Kala Looks gave little thought to the routine heel prick of newborn screening. At 23 and 24, she and her husband, Phillip, were high school sweethearts starting a family.

Two weeks later, a Michigan state health official called. Something came up on Levi’s screen. You need to bring him in right away. Three weeks and numerous blood draws later, the Looks had a diagnosis: Severe combined immune deficiency (SCID) — “bubble boy” disease. Levi’s blood had only a few T cells, crucial ingredients of the immune system, and those were likely his mother’s lingering cells. Soon he would have no immune system at all.

That the fraternal twins are now healthy, active toddlers, climbing onto the dining room table and leafing through picture books and starting to talk, is thanks to newborn screening and a pioneering gene therapy trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Had Levi been born before October 2011, when Michigan began screening all newborns for “bubble boy” disease, he could well have died of overwhelming infection before his first birthday.

Instead, Levi has a functioning immune system after being treated in Boston as part of an international clinical trial of gene therapy for boys born with X-linked SCID. He is one of three boys treated on the trial’s U.S. arm whose disease was picked up by universal newborn screening, now standard in 42 states. Of the other four boys treated at U.S. sites, one from South America was diagnosed at birth, because an older brother had died of the disease. Three boys, from South America or states that didn’t yet have newborn screening, were diagnosed after suffering life-threatening infections that their bodies had trouble shaking.

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Bursting the SCID-X1 bubble

The Caceres family

Agustin Caceres’s baptism was the only time his family was allowed close to him. But even then, anyone who came in contact needed to wear masks, gloves and gowns. After the ceremony, Agustin went back into isolation, along with his mother Marcela, who stays with him and only comes out for meals.

Agustin spent much of his life separated from the world because he has a form of X-linked Severe Com­bined Immunodeficiency—or SCID-X1—better known as “bubble boy disease.” It affects only boys, leaving their bone marrow unable to make T-lymphocytes, the white blood cells that fight germs and infection.

To keep Agustin safe, his father, Alberto, and his four-year-old brother, Jeremias, live in a separate bedroom. At one point Jeremias even left his nursery school to make sure he couldn’t bring home any infections his baby brother might catch.

Unfortunately, this is not the Caceres’s first experience with SCID-X1; their first son was also born with the disease and died from it before he was even 5 months old. So when Jeremias was born healthy, the family banked stem cells from his umbilical cord blood to benefit future treatment, should they have another son born with the disease. At first doctors were hopeful Jeremia’s stem cells could be used to treat Agustin, but the boys’ tissues weren’t compatible. Without interven­tion, Agustin was likely to die from a bacterial or viral infection before his first birthday.

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