Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening
Newborn screening for Phenylketonuria (PKU) began in 1963, and since then knowledge and treatment recommendations have evolved. In the decades following newborn screening for PKU, individual and family experiences varied widely. We present narratives by people living with PKU during these years, including individuals actively following in PKU clinic and those who have been out of PKU clinic for many years. These stories describe different individual experiences, including diet discontinuation in childhood, changing treatment guidelines, and new treatments that have become available.
Authors
- Suzanne Hollander (ORCID: https://orcid.org/0000-0003-2291-1975)
- B. Holmes (ORCID: https://orcid.org/0009-0002-1519-2554)
- Stephanie Sacharow (ORCID: https://orcid.org/0000-0001-5249-5840)
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1002/ajmg.c.32110
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Rare Diseases Clinical Research Network
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development