Date of Award

1-1-2013

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Crystal R Hill-Chapman

Abstract

Phenylketonuria (PKU) is an autosomal metabolic condition that is screened for via newborn screening. Individuals who are identified as having PKU require a protein-restricted diet to protect against neurological damage. Many parents who learn their child has PKU may already have children who are not affected, or may have children later who are not affected. This creates a unique situation in which parents are rearing children that require a strict protein-restricted diet with children who do not. Parents who are currently rearing children with and without PKU were surveyed to learn what unique perspectives and struggles they face, especially regarding meal planning, diet enforcement, and time management. Telephone interviews were performed to gain a wider scope of understanding from these parents. Nineteen surveys were eligible for use in the study; eleven surveys were completed through the end and five follow-up telephone interviews were performed. These families reported that the children with PKU have slightly more time spent on them per week in regards to doctor appointments, extracurricular activities, and one-on-one attention compared to their siblings without PKU. All survey respondents noted that they were the main preparer of homemade meals (n = 12), in which individuals with and without PKU ate about the same amount per week. Slightly more time was spent preparing homemade meals for individuals with PKU, and for families with more individuals with PKU less time was spent preparing a meal that everyone could enjoy. Telephone interviews collected information regarding everyday life. Parents in general agree that having a child with PKU does not prevent the family from activities, but creates additional challenges to work around. Genetic counselors see these families for short pieces of time as they come to clinic, understanding the additional challenges that some families will face allows for better care and guidance to be given.

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