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Living with phenylketonuria: Perspectives of patients and their families
Author(s) -
Bilginsoy C.,
Waitzman N.,
Leonard C. O.,
Ernst S. L.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-4478-8
Subject(s) - panacea (medicine) , medicine , phenylketonurias , dietary management , intervention (counseling) , pediatrics , family medicine , gerontology , alternative medicine , psychiatry , nursing , phenylalanine , pathology , biochemistry , chemistry , amino acid
Summary This study surveyed PKU patients and their primary caretakers to assess their current management practices, the barriers to effective management, and the potential utility of a home monitor in managing PKU. A survey instrument was mailed to caretakers of all 50 patients with PKU in Utah between the ages of 2 and 18 years in 1997 (response rate 64%). It included separate components for caretakers and patients aged 10 to 18 years. Although there was uneven compliance with recommended practices, caretakers universally recognized the negative consequences of not adhering to the low‐protein diet. There was, however, disagreement regarding such consequences among the older children surveyed. The primary obstacles cited to better adherence were time constraints and stress associated with food preparation and record‐keeping, and the restrictions imposed on social life. Phenylalanine test results were regarded as the principal signal for the need for dietary adjustment. Despite the facts that obstacles to dietary adherence are multifaceted and that no single intervention would therefore serve as a panacea, a large majority of respondents believed a home monitor would facilitate better management of PKU through more regular and timely feedback.