Joslyn Crowe, NNPDF Executive Director

September is Newborn Screening Awareness Month, an important opportunity to focus on this critical and often unmet need in healthcare. Through our materials and programs, NNPDF has been dedicated to raising awareness of the importance of newborn screening for Niemann-Pick diseases and for other lysosomal storage disorders.

Newborn screening is designed to detect certain genetic, metabolic, and congenital disorders in newborn babies. In testing, a blood sample is analyzed to confirm the presence of specific markers or abnormalities that are associated with certain diseases or disorders. Newborn screening can make it possible for many infants to get a diagnosis that can lead to earlier treatment or other steps to protect and improve their health. Early treatment and management is often associated with better outcomes, improved quality of life, and reduced risk of long-term complications associated with certain diseases.

Despite the clear benefits of newborn screening, available programs and access to testing can vary widely by state. The Department of Health and Human Services (HHS) has developed a list called the Recommended Universal Screening Panel (RUSP) that identifies diseases and conditions for which every baby should be screened. Of the 7,000 known rare diseases, only 35 are included in the RUSP.  Niemann-Pick disease is not included on this list.  Each state can determine the diseases that are included in screening in that state. Currently, only Illinois and New Jersey offer newborn screening for ASMD; a new pilot program in New York includes screening for both ASMD and NPC.

NNPDF continues to work in many ways to advocate for the inclusion of Niemann-Pick in more newborn screening panels across the country. Most recently, NNPDF helped to found the Lysosomal Storage Disease Advocacy Coalition (LSDAC), a new coalition of different patient advocacy organizations dedicated to advancing public policy priorities that benefit and improve the quality of life for people living with lysosomal storage disorders. Involvement in the LSDAC supports our newborn screening efforts for ASMD while our advocacy for NPC is executed as an active member of the Firefly Fund’s NPC Newborn Screening Working Group. In April 2023, NNPDF board member Taylor Sabky, attended a newborn screening awareness event held by LSDAC at the State House in Massachusetts to represent the ASMD community in support of legislation that would expand the newborn screening panel to include several lysosomal storage disorders. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have had on their lives.

“By adding Niemann-Pick to newborn screening panels, you are giving families time and options. Families will not have to wait for months on end wondering what is going on with their child. They won’t have to endure a multitude of appointments or feel like a lab rat as test after test is performed to figure out what’s wrong. People with Niemann-Pick won’t have to experience symptoms without remedy; they can access treatment right away that will keep their livers and spleens normal size and functioning properly, that will help their breathing, that will allow them to continue to engage in their lives like a person, not a patient. And as they plan their future families, they can make informed decisions.” – Taylor Sabky, mother of Purnell

Early diagnosis and intervention of all types of Niemann-Pick disease is crucial, especially as we consider that more treatments might be available in the years ahead. We now have a treatment available for ASMD and many research efforts are underway to develop a treatment for NPC. Delays in diagnosis can lead to more advanced disease that can make treatment more challenging and less successful. During Newborn Screening Awareness Month and throughout the year NNPDF joins with people affected by all types of Niemann-Pick disease as well as caregivers and healthcare professionals to advocate for access to screening services that can have a profoundly positive impact in the management of Niemann-Pick disease. To learn more about our efforts visit nnpdf.org/newborn-screening/

“Newborn screening would have helped us. When I think of all that Purnell accomplished in his short life, I wonder, what more could we have done if we had known about his disease a full year sooner?” – Taylor Sabky