Press Releases
Press Release: State Senator Richard Pan Introduces Lifesaving Legislation to Make California the Nation’s Leader in Newborn Screening
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
Press Release: Governor Jerry Brown Signs Legislation Ensuring Babies Born in California Receive the Earliest Treatment for Life-Threatening Conditions
Friday, September 16, 2016, Novato, Calif. – On September 16th, Governor Jerry Brown signed into law Senate Bill 1095 (Pan), sponsored by the EveryLife Foundation for Rare Diseases. The bill ensures that babies born in California will be screened for a disease within two years of its addition to the federal Recommended Uniform Screening Panel.
Senator Richard Pan, MD (D-Sacramento) introduced the bill in February, noting that “[r]are diseases often are difficult to diagnose in time before permanent damage is done.” With leadership from the EveryLife Foundation and support from more than 120 patient organizations including March of Dimes, the National Organization for Rare Disorders (NORD), Muscular Dystrophy Association and Global Genes, this bipartisan legislation breezed through both chambers of the state legislature without a single “No” vote.
Every year, many California babies go undiagnosed for diseases and conditions that are easily detectable by newborn blood screening, a quick heel prick that all babies receive at the hospital shortly after being born. But while California was once a leader in newborn screening, the state does not currently screen for all of the diseases recommended by leading scientists and public health officials. Currently, new legislation must be introduced for the state to screen for any disease. As a result, California babies are delayed treatment, which can lead to unnecessary pain and suffering.
Sabrina Low-Dumond’s son Zack suffers from Pompe Disease. Because he was not diagnosed at birth, their Orange County-based family spent four anguishing years searching for answers and she notes that “[t]he delay caused by failure to screen at birth has left Zack with irreversible damage.”
She is not alone. Betsy Bombola of Napa lost her son Brian to MPS, or mucopolysaccharidoses, and remembers that “[t]he damage was irreversible and after 30 surgeries, including open heart, hip replacements, shunts, and corneal transplants, he died at just 34…”
With the Governor’s signature, the lives of babies born with MPS, Pompe, and many other diseases will be forever changed. They will get the earliest diagnosis and treatment possible for these life-threatening diseases. But SB 1095 doesn’t just save lives; it also saves money. For every dollar spent on newborn screening, the state saves $9.32 in health care costs. The EveryLife Foundation for Rare Diseases applauds Senator Pan, Governor Brown, and the hundreds of advocates and patient organizations who helped make this possible.
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