Nebraska Newborn Screening
LSD Coalition Created and Brian Jones is Treasurer
Our Newborn Screening Coordinator, Rachelen Varghese, presented to the Newborn Screening and Genetics committee in Nebraska on July 25th, 2023. The presentation covered in-depth facts about Fabry Disease, positive consequences of receiving timely therapy and the negative impact of delayed screening. The committee was very gracious in receiving the information and posed several introspective questions at the end. Our need is to find a physician, local to Nebraska, who is a voting member of the committee and can nominate the condition for consideration for inclusion in the state’s newborn screening panel. In the meantime, Rachelen will be reviewing economist papers to address concerns about cost versus insurance coverage of treatment in the state of Nebraska. Additional research will hopefully cover studies of patients from the time of ERT (Enzyme Replacement Therapy) initiation to end of life and ethics about family testing. We would be grateful to connect with local patients to understand the cost of Galafold vs ERT treatment and necessary support from facilities and healthcare providers. If you are a Nebraska resident and affected by Fabry Disease, please reach out to us via testingfortots@gmail.com.
