Health & Medicine
'Bubble Boy' Disease Twice as Common as Once Thought: Study
Kathleen Lees
First Posted: Aug 20, 2014 05:03 PM EDT
Researchers have found that the rare and potentially fatal "Bubble Boy" disease could in fact be twice as common as once believed, also known as severe combined immunodeficiency (SCID).
"People were made aware of this condition by the boy in the bubble, who was born without an immune system," said study author Dr. Jennifer Puck, a pediatric immunologist at Benioff Children's Hospital at the University of California, San Francisco, via Health Day. "Before there were good treatments, he had to spend his life in a germ-free environment. But since that time, there are treatments available for every baby born with this, as long as treatment can be started before they get fatal infections."
For David Vetter who was born in Texas, 1971, Dr. Puck said that his immune system was so weak because of the disease, that he had to live inside of a bubble and died at the young age of 12.
Fortunately, with more awareness about the illness, screenings for the disease have become more thorough throughout the world and in the United States for SCID.
"Screening for SCID has picked up a lot of cases that otherwise would not have been detected and has saved lives," said Dr. Puck, who designed the SCID screening test. "Before we just had to guess at the number of SCID cases."
For the study, researchers examined data on close to three million newborns screened for the disease in 10 states, including the Navajo Nation. All the infants were born between January 2008 and July 2013; 52 babies from the sample were diagnosed with SCID.
Forty-nine of the children were treated at early stages and 45 of this sample also responded positively to the treatments.
As this disease is caused by certain gene defects that prevent the immune system from properly treating infection, screening and early treatments are essential to prolong the life of individuals dealing with this potentially debilitating medical condition.
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First Posted: Aug 20, 2014 05:03 PM EDT
Researchers have found that the rare and potentially fatal "Bubble Boy" disease could in fact be twice as common as once believed, also known as severe combined immunodeficiency (SCID).
"People were made aware of this condition by the boy in the bubble, who was born without an immune system," said study author Dr. Jennifer Puck, a pediatric immunologist at Benioff Children's Hospital at the University of California, San Francisco, via Health Day. "Before there were good treatments, he had to spend his life in a germ-free environment. But since that time, there are treatments available for every baby born with this, as long as treatment can be started before they get fatal infections."
For David Vetter who was born in Texas, 1971, Dr. Puck said that his immune system was so weak because of the disease, that he had to live inside of a bubble and died at the young age of 12.
Fortunately, with more awareness about the illness, screenings for the disease have become more thorough throughout the world and in the United States for SCID.
"Screening for SCID has picked up a lot of cases that otherwise would not have been detected and has saved lives," said Dr. Puck, who designed the SCID screening test. "Before we just had to guess at the number of SCID cases."
For the study, researchers examined data on close to three million newborns screened for the disease in 10 states, including the Navajo Nation. All the infants were born between January 2008 and July 2013; 52 babies from the sample were diagnosed with SCID.
Forty-nine of the children were treated at early stages and 45 of this sample also responded positively to the treatments.
As this disease is caused by certain gene defects that prevent the immune system from properly treating infection, screening and early treatments are essential to prolong the life of individuals dealing with this potentially debilitating medical condition.
See Now: NASA's Juno Spacecraft's Rendezvous With Jupiter's Mammoth Cyclone