Monday February 29, 2016, Novato, Calif. – On Rare Disease Day, the EveryLife Foundation for Rare Diseases applauds Senator Richard Pan, MD (D-Sacramento) for introducing SB 1095. The Foundation is joined by the MLD Foundation, National MPS Society, Acid Maltase Deficiency Association (AMDA), the Ryan Foundation, Aidan Jack Seeger Foundation, and Jonah’s Just Begun Foundation to Cure Sanfilippo in supporting this lifesaving legislation to expand California’s newborn screening program.
Because of the rarity of these diseases, it can take more than seven years for a patient to receive an accurate diagnosis. Delays in diagnosis and treatment can cause severe cognitive and physical problems and even death. Early treatment can prevent the irreversible complications of the disease, providing cost savings to the state and ensuring better health outcomes for babies born in California. California saves $9.32 in health care costs for every dollar spent on newborn screening.
“This bill will solidify California as the national leader in ensuring babies are screened for life-threatening rare diseases. We are so grateful to Dr. Pan for his commitment to newborn screening. He is a hero to the rare disease community,” said Julia Jenkins, Executive Director of the EveryLife Foundation for Rare Diseases.
“Rare diseases often are difficult to diagnose in time before permanent damage is done,” said Dr. Richard Pan, a pediatrician and Senator representing the Sacramento region. “SB 1095 ensures California implements recommended newborn screening when an early diagnosis and treatment can prevent disability and save lives.”
The Secretary of the United States Department of Health and Human Services convenes a committee of newborn screening experts to develop a Recommended Uniform Screening Panel (RUSP). The federal process is rigorous, evidence-based, and science-driven, but ultimately states are not required to follow the recommendations. This results in babies in some states receiving timely diagnosis and treatment, while babies born in other states do not, with potentially life-threatening consequences.
Currently, California has to introduce new legislation every time a disease is added to the federal RUSP. SB 1095 removes the legislative delay, so California can rapidly implement the new screen, ensuring babies in California have the earliest opportunity to receive lifesaving treatments.
The EveryLife Foundation for Rare Diseases is a 501c3 public charity dedicated to accelerating the pace of biomedical innovation through science-driven public policy. www.EveryLifeFoundation.org