Newborn Screening Awareness Month - September

September is recognized as Newborn Screening Awareness Month. Newborn screening is a medical screening tool that can identify newborns who may have certain rare conditions before severe health problems present themselves. It is part of public health programs designed to identify important medical information as early as possible, allowing for earlier diagnosis, treatment, and management of rare conditions. It is important to remember that newborn screening is not a diagnostic test. A screening result may indicate that additional testing is needed to determine whether a baby has a particular condition.

Newborn blood spot screening was developed in the 1960s and involves a simple heel prick to collect a few drops of blood to screen for a set of conditions that can manifest early in life. All 50 states in the U.S. currently have newborn screening programs, although the conditions included can vary (NORD, HRSA Newborn Screening).

In February 2016, X-ALD was added to the U.S. Recommended Uniform Screening Panel (RUSP), the federal list of conditions recommended for state newborn screening programs. Currently, 48 states are screening all newborns for X-ALD (ALD Alliance, ALD Info).

All provinces and territories in Canada conduct newborn screening, but the conditions they screen for may differ (Canada’s Drug Agency). In Ontario, a pilot program for X-ALD screening began in March 2025, initially screening a small, randomly selected subset of newborns. Babies with a positive screening result are referred for appropriate follow-up. Ontario’s official newborn screening program was initiated later, in September 2025 (Newborn Screening Ontario).

Many countries are still working toward expanding newborn screening for congenital and inherited conditions. One of these countries is Egypt, which launched its nationwide Newborn Care Pathway on June 1, 2026. Services during a newborn’s first week include comprehensive medical examinations, growth monitoring, hearing screening, heel-prick blood testing for inherited diseases and metabolic disorders, early jaundice screening, and routine vaccinations. X-ALD is not currently included as a specific condition in this screening program.

Expanding newborn screening for X-ALD can create an important opportunity for earlier identification, appropriate monitoring, and timely intervention when needed. This is especially meaningful because children with X-ALD may appear healthy before signs of cerebral disease develop, and early detection can help families and healthcare teams monitor for changes and consider treatment at the appropriate time.

The importance of earlier identification has been deeply felt within the ALD community in Egypt. In recent months, the community has mourned the loss of five boys affected by ALD whose conditions were identified after their disease had already significantly progressed. We remember these children and their families, and their experiences strengthen the call for greater awareness, earlier identification, and access to appropriate care.

The more we talk about newborn screening and raise awareness, the more we hope to see X-ALD added to newborn screening programs in other parts of Canada and in countries where it is not yet included. Each step toward earlier identification is an encouraging step forward for the global ALD community.