Help for Breastfeeding Mothers with Phenylketonuric Infants

Introduction:  Phenylketonuria (PKU) requires low phenylalanine (Phe) containing protein to maintain desired Phe levels and thereby prevent intellectual disability. At the time of diagnosis, mothers who are breastfeeding an infant with PKU often want to continue breastfeeding because of the documented benefits of breast milk, including a lower amount of Phe than in standard commercial infant formula. However, there are challenges unique to this breastfeeding experience. No study has examined the particular needs that would help mothers to continue breastfeeding their infant with PKU.

Purpose:  Identify and describe mothers’ needs that would facilitate successful continuation of breastfeeding with their infant diagnosed with PKU.

Sample: Mothers met the following inclusion criteria:  1) at least twenty-one years of age, 2) able to read and write in English, 3) breastfed a child with PKU, and 4) reside in the United States or Canada.

Method:  Mothers were recruited from the PKU Listserv. Mothers who responded to the recruitment post were emailed a copy of the information sheet and instructions for the survey. Mothers were informed survey completion would be evidence of their agreement to participate. The Internet survey included open-ended questions; this report concerns mothers’ (n = 58) responses to a question about what would have helped while breastfeeding an infant with PKU. A procedure was developed for coding responses into 4 categories:  Lactation Help, Management, More Support and No Help. Intercoder reliability for the coding of responses into categories was 90% agreement.

Results:  Lactation Help (n = 27, 47%) was the most frequently identified as needed by mothers, and yielded four subcategories:  breast milk supply (n = 10, 18%), PKU and breastfeeding resources (n = 9, 16%), breast pumping (n = 8, 14%), and lactation consultants (n = 8, 14%). More Support (n = 13, 23%) was the second most frequent area with three subcategories:  professional support (n = 9, 16%), social support (n = 7, 12%), and encouragement (n = 4, 7%). Management of PKU in the context of breastfeeding (n = 11, 19%) was the third area and reflected two subcategories:  PKU management (n = 6, 11%), and “how much” (breast milk did the infant ingest) (n =4, 7%). Only a few mothers (n = 4, 7%) identified no help was needed while breastfeeding an infant with PKU, the fourth category.

Discussion: This study provided the first description of mothers’ needs identified when breastfeeding an infant with PKU. Lactation and management needs were interrelated and revealed mothers’ struggles to adapt breastfeeding while maintaining Phe levels. Mothers wanted more support that would offset their increased workload and effort to continue breastfeeding despite the infant’s diagnosis of PKU. A few mothers reported no extra needs and were the exception and not the norm.

Implications:  As mothers adapt breastfeeding to maintain their infant’s Phe levels, they should be encouraged to obtain an appropriate breast pump for long term pumping in order to maintain their breast milk supply and actively engaged to problem solve the challenges for providing breast milk to an infant with PKU.