Empowering Decision Making through Newborn Screening

Today, I had the honor of being part of the “Newborn Screening Panel” at the 2019 MDA Clinical and Scientific Conference in Orlando, Florida. The local and national visibility and importance of newborn screening has been elevated recently. Advocates are engaging with lawmakers in several states to review current policies to potentially expand screening panels and include more rare diseases, such as Fabry, Pompe and others. Just last month, the Governor of Indiana signed Bryce’s Bill, which added Krabbe disease, Pompe disease and Hurler’s Syndrome to the state’s newborn screening panel. On the national level, the Newborn Screening Saves Lives Reauthorization Act of 2014 is up for renewal by the end of this year.

As a parent of two now adult children living with Pompe disease, who were diagnosed fairly young, I know the incredible importance of early diagnosis and what this means for a child’s life and for a family in general. Newborn screening empowers parents and caregivers to make choices about potential options for their child. These could, for example, include going on available treatment, entering a clinical trial or otherwise managing the disease through lifestyle changes.

While our industry has achieved several major treatment milestones, there is still much work to be done in our mission to hopefully one day find cures for Fabry, Pompe and other rare metabolic diseases. The team at Amicus works tirelessly every day, to push the boundaries to discover, develop and bring new therapeutic options to approval. As we recently marked International Pompe Day on April 15th and continue with activities around Fabry Awareness Month throughout April, we should always remember the importance of working together as communities – parents, caregivers, advocates, healthcare providers, researchers, industry – for diagnosis, treatment and cures. By highlighting both the importance of newborn screening for these and other diseases, as well as supporting quicker and more accurate diagnosis for all affected populations, we can all play a vital part in the continuum of care.