Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of Pediatrics and Director of the Lysosomal Storage Disorders Program at UPMC Children's Hospital of Pittsburgh, discusses why the process of newborn screening for lysosomal storage disorders can be so difficult for expecting parents.

Dr. Ortiz notes that one reason the newborn screening process is so uncomfortable for parents is because of a lack of understanding on the part of the physicians given the rarity of lysosomal storage disorders. She hopes that, one day, having a discussion about the possibility of a child having a rare disease will not be so uncommon in the prenatal process and that expecting mothers will feel better prepared for this possibility by geneticists and pediatricians. Dr. Ortiz believes more education about rare diseases will help with this. She also notes a lack of communication between geneticists and expecting mothers which likely adds to the confusion and concern. For example, she notes that many patients do not realize that newborn screening is not a diagnosis, which can create unnecessary panic if a child does not develop the disorder.

Dr. Ortiz concludes by stressing how important it is for health care professionals involved in newborn screening to foster parents’ faith in the medical system, especially because there is a chance those parents may have to remain in constant connection with health care specialists should their children develop health issues.

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