Heather Smith carries a recessive gene for a rare sex-linked primary immune deficiency disease that kills most boys before they are 1 year old, and she passed it on to her two sons.

Her oldest, Brandon, behaved like a normal, healthy baby until he was about six months old and couldn't fight off his first cold. He had trouble eating, he developed a rash on his face and thrush in his mouth, and his fingernails turned blue.

'Bubble Boy' legislation to create home treatment program

Brandon died within three weeks of being hospitalized in 1993 of severe combined immunodeficiency, or SCID-X1, commonly known as "bubble boy disease." It was so named for David Vetter, a Texas child with SCID-X1, who died in 1984 after living for 12 years in a germ-free plastic bubble.

Courtesy Heather Smith

Brandon Dahley died at the age of seven months from SCID-X1 or "bubble boy" disease.

"I had seen the movie ["The Boy in the Plastic Bubble"] with John Travolta, but I never dreamed I would someday lose my first-born child to this devastating disease," said Smith, founder of SCID-Angels for Life, which successfully pushed for mandatory screening of all newborns for the disease in her home state of Florida.

"[A bone transplant] wasn't even an option presented to us for consideration," she said. "Instead, we were told that we had to say goodbye to our only child and turn off the machines."

After genetic testing, Smith's son Taylor was born in 1995, and because of early detection, he received the first-ever in-utero bone marrow cell transplant, previously only done on sheep. Today, at 18, he is "thriving," according to his mother and leads a normal life. He's now preparing to go to college.

Taylor receives infusions of gamma globulin, a blood product that helps his immune system fight off infection.

Read more here:
'Bubble Boy' Disease, Nearly Always Fatal, Could Have Cure

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