The Copper Connection

Newborn screening (NBS) is a vital health practice that uses a quick heel prick test to detect genetic, endocrine, and metabolic disorders in newborns. This early detection allows treatment to begin before symptoms appear, drastically improving health outcomes and saving lives. Despite its benefits, the list of conditions tested varies by location, leaving significant gaps in early diagnosis for some rare diseases.

Wilson Disease (WD) is a rare genetic disorder, which causes toxic copper buildup in the body, leading to severe damage to the liver and brain if untreated. Unfortunately, there currently isn’t any countries that include WD in newborn screening, and diagnosis often occurs too late to prevent irreversible harm. Families endure years of uncertainty, navigating complex symptoms without a clear diagnosis.

Dr. Sihoun Hahn has dedicated over 25 years to changing this. Through a groundbreaking pilot program in Washington state, his team has already screened over 30,000 newborns for WD since 2022. Dr. Hahn’s goal is to see WD screening added to newborn panels nationwide and, eventually, adopted globally. He has petitioned to include WD in Washington’s screening program and is exploring further expansions in other states and countries.

Early detection of WD could transform lives by enabling treatment from birth, preventing the devastating effects of copper toxicity, and reducing the emotional and financial toll on families. With this initiative, we have the opportunity to revolutionize how Wilson Disease is diagnosed and treated, offering hope for a brighter future. By supporting efforts to expand newborn screening, we can make a profound difference in the lives of families affected by this rare disease.

 https://wilsondisease.org/news-publications/copper-connection-newsletter/