Doctors push newborn test for 'bubble boy disease'
Erin Allday, Chronicle Staff Writer
Published 4:00 am, Saturday, March 19, 2011
UCSF doctors have developed a test that, using just a drop of blood taken within hours of a baby's birth, can determine whether that child has a rare but potentially fatal immune deficiency disorder.
Without treatment, most babies die from infection when they're just months old. If they survive, they're often destined to a life in isolation. Severe combined immunodeficiency disorder, or SCID, is also known as the "bubble boy disease," after the famous case of a Texas boy who lived most of his 12 years in large, plastic bubbles to protect him from infection. He died in 1984.
If babies are diagnosed within weeks of birth, they can get a bone marrow transplant that will let them grow a new immune system to replace the faulty one, essentially curing the disease.
That's why doctors are trying to get the blood test added to the state's newborn screening program, a move that will require legislative approval. Legislation was introduced last month by Assemblyman Richard Pan, D-Sacramento, and a vote is expected this summer.
"Some other states are getting on board, and they may be doing it kicking and screaming, because they don't have an extra dime to spend. But it's so important from a medical point of view, and we believe it'll be cost-effective," said Dr. Jennifer Puck, a pediatric immunologist with UCSF Benioff Children's Hospital, who developed the screening test for SCID.
"These babies, when they come in with infections, they have a $1 million hospital bill before they even get the transplant," she said. "With screening, we'll get useful, healthy citizens and not huge hospital bills their whole lives."
Every baby tested
Every newborn in the state is pricked by a needle hours after birth, and a blood test is sent to a lab to screen for more than two dozen types of diseases, including sickle cell anemia and phenylketonuria, or PKU, a metabolic disorder that can cause mental disabilities and seizures if left untreated.
Diseases are screened only if they can be treated, and only if it's important that treatment be started as early as possible to avoid permanent damage or death. In the case of SCID, it's crucial that babies be diagnosed before they're exposed to even the tamest bacteria or virus - the common cold can be deadly to them. In fact, an infant vaccine for the rotavirus includes a weak but live virus that can cause serious illness in babies with SCID.
Puck developed the newborn screening test five years ago, but it took time to come up with a way to work it seamlessly into the tests that are already performed. The screening tests cost about $100 per baby, and are almost always covered by insurance or Medi-Cal. The SCID test would add another few dollars, Puck said.
"One of the most extraordinary things in early newborn screening is being able to address something immediately," said Gail Margolis, chairwoman of the public affairs committee of the March of Dimes, which supports the newborn screening changes. "In this case, a child could die from very serious infection. These kids, you wouldn't know there was anything wrong without screening."
California launched a pilot program to screen for SCID last August, and since then seven babies have been diagnosed and started treatment. The first of those babies was Annalou Bojorquez, who was born Oct. 9 in Fresno.
She seemed perfectly healthy, said her mother, Elena Bojorquez. Annalou was sent home a day or two after birth with a clean bill of health. Three weeks later, the family got a phone call: Annalou would need to return to the hospital for more testing. Soon after she was diagnosed with SCID, and sent to UCSF for treatment.
Elena Bojorquez said she was terrified at first, because she'd had a half-brother who died of a serious infection when he was only 7 months old, and the family had been told he had SCID. But because Annalou was still so young, and because she still had a fragile but functioning immune system in the form of her mother's leftover antibodies, she was a perfect candidate for a bone marrow transplant.
The bone marrow stem cells came from Bojorquez, and just weeks after the transplant, Annalou's body was starting to produce its own immune cells. The family had to stay at UCSF for six weeks of inpatient treatment.
Out and about
Until two weeks ago, Annalou was confined to her family's home to protect her from infection while her immune system grew.
She's now a happy, lively 5-month-old. She smiles widely at anyone who looks at her, whether they're cooing and tickling or trying to get a blood-pressure reading from her squirming body. During a checkup at UCSF this week, she was a star among the doctors and nurses, who were stunned at her progress.
"Before the transplant, she had no ability to fight off infection," said Dr. Morton Cowan, chief of pediatric bone marrow transplants at UCSF, who performed the procedure on Annalou. "This is the type of outcome we hope to see."
It's almost impossible to imagine her living a life in isolation, her mother said. She loves being around people too much.
Now, she's looking forward to taking Annalou out in public - to the shopping mall and family parties, to parks and church services.
"My dad has Sunday dinners every week with the whole family, and that was the first place we took her" when she was let out of isolation, Bojorquez said. "She was a bit freaked out. But she loves attention."