Author ORCID Identifier

0000-0002-4455-3112

Date of Graduation

5-2022

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Kate Mowrey MS, CGC

Committee Member

Syed Hashmi, MD, MPH, PhD

Committee Member

Heather Saavedra, LD/RD

Committee Member

Christina Falugi, MS, CGC

Committee Member

Hope Northrup, MD

Abstract

Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives children with PKU an opportunity to obtain skills related to diet compliance, but also enhance their confidence, relationship development, and independence. Through learned skills and the strict diet regimen at camp, campers were found to have a statistically significant drop in phenylalanine (PHE) levels within a single attendance (mean decrease per year range = 2.1 to 7.8 mg/dL; p<0.001 for all). When looking at the PHE drops by year, the within year difference was higher for camp years before 2007 (mean decrease: 6.3 mg/dL; range: 5.4 to 7.8) than in camp years after 2007 (mean decrease: 3.5 mg/dL; range: 2.1 to 4.6), hypothesized to be due to the availability of the PHE-reducing drug, Kuvan. The most significant discovery was that camp is most effective at reducing PHE levels in those entering camp with levels above the recommended range. Before 2007, the drop in PHE levels over an individual camp visit was significantly higher for campers with elevated pre-camp PHE (median change: -7.6 units, IQR: -10.5 to -5.1) compared to those with PHE levels in the acceptable range (median change: -0.9 units, IQR: -2.3 to 0.6) (p<0.001). Although still statistically significant, the magnitude of this difference between campers with high verses acceptable levels of PHE was lower after 2007, with a median change in PHE levels of -4.9 units (IQR: -7.0 to -2.5) and -1.0 (IQR: -2.3 to 0.2), respectively (p<0.001). Because many individuals with elevated PHE levels struggle with executive functioning, emphasis should be placed on returning these levels to the recommended range. Camp PHEver plays an instrumental role in bringing children and adolescents with PKU into the recommended range throughout the course of camp. Furthermore, camp has been reported by former campers to increase perceived long term diet compliance, independence, confidence, and relationship development and represent the first steps to long term PKU management.

Keywords

PKU, Phenylketonuria, metabolic, diet compliance, phenylalanine, genetic, autosomal recessive

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