Hi Dr. Cohen,
I am a resident of Chapel Hill, NC and am writing to inquire about the status of implementation of newborn screening for the 3 new conditions approved in 2018 by the NC general assembly (Pompe disease, MPS I, and X-ALD).
As I understand it, your department (according to the 2018 budget bill) is due annually on March 1 to report on the newborn screening program. Similarly, I understand that newborn screening fees have already been increased to cover the increased costs of these additional genetic diseases. Therefore, I am hoping that you can tell me when screening for these new conditions will commence, and if the March 1, 2019 report has been made public and if it can be shared.
My 2 year old daughter Magnolia was born at UNC and has MPS-1. Because this newborn screening was not yet implemented, we did not find out her diagnosis until after her first birthday when she was not developing appropriately. By that time, her MPS I had already caused severe hip and spine deformities that will cause her permanent disability. Delayed diagnosis of this disease (and the other two added to the new panel) can be fatal and early intervention has been proven to stop the progression of these diseases. WE CAN prevent this from happening to other babies in North Carolina but we need to catch up to other states and start screening!
I’m a member of the National MPS society, and many of us are eagerly awaiting news. What can you share about the status of the screenings? Is there a report that I can read?
Thank you for your help,
Tracy L. Rose, MD MPH
Assistant Professor, University of North Carolina at Chapel Hill
Division of Hematology/Oncology