Ford S, O'Driscoll M, MacDonald A.
Living with Phenylketonuria:  Lessons from the PKU community.
Mol Genet Metab Rep. 2018; 17:57-63.

This reports the findings of an online survey of experiences from those living with PKU in the UK and results are from 631 responses, including both adults with PKU and carers of children or adults with PKU.  The paper shows responses to set questions where multiple choice responses were possible, and, more powerfully, it shows the analysed themes from free responses and the paper includes direct quotes.

Responses from adults and children said they find dietary treatment unpleasant and food choices too restrictive. Respondents had difficulty with maintaining focus, and reported educational difficulties, some respondents also experienced anxiety or depression. Physical problems reported included digestive problems, and headaches. Adults and children described exclusion in social settings and relationship issues with friends or family.  Different prevalence of problems was reported for children and for adults.

This paper includes direct statements (verbatim extracts) from the members of the community who completed the survey; these statements and quotes make the paper very powerful and interesting reading.

Read the full research here.


Ford S, O'Driscoll M, MacDonald A.
Reproductive Experience of Women living with PKU; Molecular Genetics and Metabolism Reports
17 (2018) 64–68

This paper publishes the women only part of the NSPKU survey, to which 300 women responded (36% already having children).  39% believed it may be unsafe to have a baby due to PKU; some worried about their parenting skills (16%), and women described how they avoided sexual relations; 8% were too embarrassed to discuss pregnancy or pregnancy avoidance in clinic.

Post-natally, of 93 women, 48% had low mood or sadness, 41% were depressed, 25% felt unable to cope, 33% said they could not care for their PKU and their baby, 14% struggled with child care needs and 4% worried they might hurt themselves or their baby. 70% respondents considered sapropterin treatment would help women have a safe pregnancy.  The paper also includes some powerful direct quotes from the women, as well as the 4 themes from the free text responses which were:  fear of pregnancy beforehand; difficulty of preconception and pregnancy diet; challenges post-natally and information gaps.

The paper includes direct quotes from women who wrote about their experiences in this part of the survey.

Read the full research here.


Ford S, O'Driscoll M, MacDonald A.
Prescribing issues experienced by people living with phenylketonuria in the UK.

Mol Genet Metab Rep. 2019; 21 100527

This paper reports results from online survey responses and shows both responses from multiple choice questions as well as thematic analysis from free text parts of the questionnaire.  There were 252 responses from people living with PKU in the UK who were experiencing or had recently experienced prescription problems in the PKU dietary treatment.

Examples of the data published include:  59% (n=146/246) of responses showed difficulty accessing basic low protein foods (bread, pasta) and 33% (n=81/248) protein substitute.   36% (n=88/248) of responses said problems had occurred for over a year. The themes which arose from open responses were home delivery problems, lack of co-ordination, running out of food, stress and hassle, GP issues, supply affecting treatment adherence and finally, encountering ignorance of PKU amongst service providers.

The paper includes quotes from respondents, that is, their own words about their negative experiences getting PKU treatment prescribed.

Read the full research here.