Early Screening and Treatment of 'Bubble Boy Disease' Will Save Lives and Save California Money
By Dr. Jennifer Puck
Every year, health care bills that pass the legislature land on the California’s Governor’s desk. This year, there is none more deserving of Governor Jerry Brown’s signature than Assembly Bill 395 (AB395). AB395, authored by Sacramento Assembly member and physician Dr. Richard Pan, will not only save lives, it will also save money for California’s taxpayers.
This bill would add a new test to the routine newborn screening that babies in California receive, a test for Severe Combined Immunodeficiency (SCID), sometimes called “Bubble Boy Disease” after the famous patient raised in a germ free environment before effective treatment was available.
Babies with SCID are born lacking immune protection, so they are prone to infections. Even germs that would not harm a normal person cause serious illness in a person with SCID. Unless effectively treated (with a bone marrow transplant, enzyme replacement or gene therapy), babies with SCID do not survive. Furthermore, delayed diagnosis makes treatment difficult, and complications of their infections can cause lifelong disability. Early detection is the key to successful treatment.
As a pediatric immunologist I have cared for many SCID patients and worked to develop a cost-effective method to screen all newborns in California for SCID. I have been privileged to contribute to the California SCID pilot screening program begun in 2010, thanks to philanthropic and industry support. However, the SCID pilot screening project is set to expire in February 2012, and continued SCID screening depends on passage of AB395.
The SCID pilot program has been a great success. California is a large, diverse state with over 10% of all U.S. births, and over 500,000 newborns were screened in the first pilot year, 20 identified who had SCID or related conditions with insufficient immune cells. The diagnosis was made in time to avoid infections and to institute prompt, optimal treatment, giving these infants the best chance at a healthy life.
Newborn screening also saves money. A 2004 cost-benefit analysis prepared by the Senate Office of Research noted “…early testing and diagnosis of newborn metabolic disorders could avoid annual economic losses of $140.15 million to California in direct and indirect costs. Of the $70 million in direct cost savings, roughly $46.7 million could be saved in the Medi-Cal program, with approximately one-half, or $23.3 million, realized in the General Fund."
Significant savings are likewise realized when SCID is diagnosed and treated early. A bone marrow transplant for a healthy newborn diagnosed with SCID by screening is approximately $50,000. However a child diagnosed late who has already suffered infections has a rocky course, incurring costs up to $500,000 or more, and there can be irreversible disabilities that last a lifetime and require expensive chronic medical care. Because some insurance will cover only up to certain amounts, the State ends up having to pay for long-term care that could have been unnecessary. With the screening provided by AB395, we’ll get healthy citizens rather than huge medical bills.
The first baby to be diagnosed under the California SCID pilot screening program was Annalou Bojorquez, born in October, 2010. Though she seemed perfectly healthy, the test was abnormal, and she was referred to UCSF for treatment. Annalou has never been ill. She received a bone marrow transplant at 2 months of age and is now cured of SCID, ready to stand on her own and take her first steps. She is not in in isolation and she takes no medicines. Had it not been for the early detection of her disorder, Annalou’s story could be very different.
By signing AB395, Governor Brown has the opportunity to give all SCID babies in California the same outcome that newborn screening made possible for Annalou. Everyone will win!
Dr. Jennifer Puck, a pediatric immunologist at UCSF Benioff Children’s Hospital, pioneered the SCID newborn screening test.