Although children with some genetic diseases have characteristic appearances which can help physicians make a diagnosis, most genetic and metabolic disorders need laboratory testing to confirm the diagnosis. Since early diagnosis is crucial for many metabolic diseases, we have been actively involved in newborn screening programs, including program promotion, coordination and follow-up, etc., to assure that affected children are identified and diagnosed as early as possible. Thanks to a grant awarded from Fox Foundation early this year, we can make this service possible.

As we deal with many rare genetic and metabolic diseases, especially rare diseases in Amish communities, laboratory diagnostic testing is frequently challenging because standard tests may not be available for every disease. However, an early successful diagnostic test often changes a child’s disease outcome significantly, frequently with dramatic financial savings to the families and medical care systems. While we are in the process to establish our own specialized laboratory, we are very grateful for the support from Dr. Holmes Morton’s Clinic for Special Children in Lancaster, PA. Through their laboratory, we will be able to offer diagnostic tests for many rare genetic and metabolic diseases in Amish communities. Meanwhile, we continue to work with research teams around the world to obtain useful biochemical information to help us make diagnoses of rare diseases such as prolidase deficiency.