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| Journal of the New Zealand Medical Association,
21-September-2007, Vol 120 No 1262
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Phenylketonuria—the lived
experience
Nicole Frank, Ruth Fitzgerald, Michael Legge
Inherited metabolic diseases are a clinically diverse group
of medical conditions which require specialist diagnosis and care. Although
individually they are rare, they have a collective incidence estimated to be 1
in 1500 persons, which would indicate that many general practitioners would
encounter an inherited metabolic disease in their practice at some
stage.1,2
Despite the poor prognosis of many of these
disorders—which may result in intellectual handicap, deformities, and
premature death—some may be treated or have intervention therapy to
circumvent the pathological sequelae of the disease. One such inherited
metabolic disease is phenylketonuria (PKU) and related forms of
hyperphenylalinaemia, an autosomal recessive disorder first described in 1934.
This group of inherited disorders of phenylalanine metabolism is primarily due
to either a deficiency of the enzyme phenylalanine hydrolase in the classical
form, or mutations in the enzyme in the variant forms.
With an incidence of 1 in 15,000 births in New Zealand, it
is likely that there will be approximately 4 infants per year born with this
disease (based on 60,000 births per year). Screening for this and other
metabolic disorders at birth, ensures early detection and intervention under the
guidance of a metabolic physician.
For PKU, the intervention therapy appears comparatively
simple (although, as the results of the research will demonstrate, in practice,
the treatment can be quite complicated and demanding). A restrictive diet low in
phenylalanine and routine monitoring of blood phenylalanine levels ensures that
the amino acid does not increase to the point of neurotoxicity causing
intellectual handicap.
Maintenance of this diet up to adolescence has been a
success story in preventing the complications of this disease, and until
recently, it was thought that dietary treatment of PKU could be discontinued
once the individual reached adolescence with no adverse consequences. However,
that assumption has since come into question.
Recent research shows the possibility of “alarming
problems in cognition and social functioning” for adults who discontinue
the PKU diet.3 Although there is no
international consensus on the issue, many medical practitioners today,
including the specialised medical team providing tertiary care for the PKU
population in New Zealand, recommend life-long adherence to the PKU diet to all
PKU patients.
Despite this recommendation, studies almost unanimously
report low rates of treatment adherence in both paediatric and adult PKU
populations,4–8 and adherence appears to
decrease with age.8–11
In this research we investigate the social impact of the
restrictive diets for people living with PKU and how people living with PKU
assess the constraints and consequences of dietary adherence in their own
private lives outside of the medical consultation. In conducting this research
we explored the lived experience of PKU for the New Zealand adult and its
relevance for issues of treatment adherence in the light of contemporary
medical, scientific, and social science literature around the subject.
MethodThe research was conducted in two parts. First, the
PKU-related literature was investigated, with articles being located through the
databases Medline, Science Direct, Proquest, Factiva, InfoTrack, Nutrition and
Food Sciences, and the JAMA website. In addition, relevant social
science literature was also reviewed, including literature on the social
significance of food and eating, dieting, stigma, and risk, with the last
category added to the review after having been raised repeatedly by the
participants during interviews.
By combining the medical and scientific literature with
the social science literature, a broader understanding of individuals’
accounts of living with PKU could be constructed. This multidisciplinary
approach is in line with the NHC (2005) proposal for improving clinical support
for people with chronic illness.12
The second part of this research involved qualitative
research using data from interviews with eight New Zealand adults living with
PKU. The goal of the interviews was to elicit data about the psychosocial
aspects of the decision-making relating to choosing to adhere to or avoid the
PKU diet.
The open-ended interviews lasted between 50 and 90
minutes, and covered the following topics: participant understandings of PKU,
impressions of normalcy and difference in regard to PKU, identity formation,
challenges of PKU and treatment adherence, coping mechanisms, change of
experience over time, relationships with medical personnel, familial and social
impact of PKU, emotional aspects of the experience of living with PKU, risk
perception and how that relates to treatment adherence, personal agency and
control, and the sensual aspects of the PKU diet.
Participants were located through a national database
available to the National Metabolic Services team in Auckland. All PKU adults
listed in this database (n=46) were contacted by letter inviting them to join
the research project, and eight responded (the low response rate being typical
of third party recruitment). However, this was a sufficient number of
participants for data analysis using grounded
theory,13 which focused on the meanings and
experiences of living with PKU.
Six of those who responded were female; two were male.
The ages of the participants at the time of the interview ranged from 31 to 43
years. Although this group presented a high degree of variation in areas such as
marital status, socioeconomic standing, and life experiences (e.g. occupation,
travel, pregnancy, and child-rearing), it should be noted that their collective
perspective could vary in important ways from those adults with PKU who did not
respond to the project invitation. For example, although the older range of New
Zealand adults was well represented (including one individual who was reportedly
diagnosed just before routing screening began in New Zealand), the views of
younger adults (in their 20s) were not represented.
The interviews were conducted by the first author (NF),
transcribed verbatim, returned to the participants for checking, and then
analysed by the first author (NF), with a second researcher (RF) checking the
transcripts and thematic analysis for consistency of interpretation. The
biomedical science information in both the interview analysis and the literature
review was verified by the third author (ML).
Qualitative software was not considered necessary for
this project. Ethical approval was obtained from the New Zealand Multi-Region
Ethics Committee.
ResultsOverview—The themes which emerged
from the interviews are set out in Table 1, and their detailed analysis forms
the basis of a more extensive publication14 and
an unpublished Master’s thesis.15
However, a number of the open coded categories were particularly relevant to
patient-practitioner interactions. These were collectively identified in the
axial coding as “uncertainty”, “difference” and
“incompatible lifestyle demands” (shown by asterisk), and can be
identified at a higher level of abstraction as forming part of the Medical,
Social, and Personal Spheres of life for the interviewees.
Although a number of other themes arose within each of these
spheres, for the purpose of this article, we will focus on only one theme per
sphere (i.e. the theme which impacts the medical consultation most explicitly).
The selected theme from each sphere of living will be discussed in tandem with
the results obtained from the literature survey.
Medical Sphere: evaluating
uncertainty—All interviewees raised the topic of uncertainty
(functioning at the level of both future and present) in various contexts, and
found this to be anxiety-provoking. Awareness of an uncertain future pervades
the experience of living with PKU for this project’s interviewees.
Participants stressed the newness of their situation, and the fact that they are
the first generation of early-treated adults with PKU, frequently noting that
no-one (including the medical community) “knows what the future
holds” for people with PKU.
Uncertainty was expressed in relation to how long they would
live and how long they would retain their mental faculties. Phrases such as
“uncharted territory” and “no-man’s-land” were
used to describe their situation, conveying a deeply uncertain future. Present
uncertainty that people with PKU must confront is connected to the lack of
medical certitude concerning PKU, and stresses ambiguity pertaining to the
optimal mode of treatment. For although the New Zealand medical community
appears to be consistently recommending a life-long PKU diet, the impression
remains among participants that the necessity or benefit of this is still
ultimately uncertain.
Participants also expressed uncertainty around the value of
the ideal blood phenylalanine level, raising concerns that they received
conflicting information from year to year. An additional area of uncertainty was
identified relating to how to achieve the desirable levels, and the lack of
apparent correlation with self-perceived behaviour.
Table 1. Overview of grounded theory coding
analysis
 The asterisk indicates coded categories discussed in
this article and movement from left to right across the table indicates
increasingly abstracted levels of analysis. The core finding is that people
living with PKU who were interviewed for this project consider the primary
effect of living with their condition to be that they become “expert
negotiators” in the medical, social, and
personal spheres of their lives.
Uncertainty cannot be acted upon until it has been
evaluated, and risk assessment plays a large role in this process of evaluation.
Many of the observations made in the social science literature regarding this
stress that both the recognition of, and the value given to, risks are
subjective and contextually dependent,16
leading to varying perspectives on risk. Often, the perspective of a medical
professional differs from that of a lay-person.
Petersen and Lupton observe that “the medical
practitioner will tend to interpret data on risk through her or his own
emotionally charged experience in working with individuals, having
responsibility for their care and treatment, and being in the position of seeing
patients die or avert death.”17 For these
reasons, Peterson and Lupton argue that doctors will tend to view risks as more
severe or negative than will patients, and will expect a higher level of
adherence to recommended treatment to avoid the risk.
Lay people, however, may draw from a number of sources in
addition to medical opinion to formulate their evaluations of risk, including
their own experiences, the experiences of friends, the familiarity or
abstractness of a particular risk, or the perception of a particular risk
relative to other perceived risks— leading to a discrepancy between the
risk assessments of the two parties.
Two participants gave especially good examples of the
assessment of risk based on the information at hand. Interestingly, both
individuals were off-diet at the time of the interview. The first participant
very clearly assessed risk associated with PKU in relative terms, comparing it
with other forms of risk to which she perceived herself to be susceptible.
Because she saw her weight and her family history of other illnesses as
additional (possibly more pressing) health risks, future harm from being
off-diet was for her, “just another possibility”.
She therefore concluded:
...particularly with my
other bits and pieces that I’ve got thrown into the mix as well...I
think...that controlling blood levels is not necessarily going to make a big
difference
(female, age 35) The second example of risk assessment highlights the
abstract nature of risk communication. This participant explained that after
reviewing some recent research demonstrating the benefit of returning to the PKU
diet (for those who have been off-diet)
...it seems so far
away...Like if 1 of the 200 people [with PKU] in New Zealand would say
to me, ‘Well, that happened to me,’ I would probably take it more
seriously...It just seems like another world (female, age 38).
Social Sphere: managing social
difference—Although “difference” was experienced by
interviewees to varying degrees, it was reported by all project participants.
The most evident outward expression of difference was considered to be in
relation to their eating habits—either when they are unable to eat what
those around them are consuming, or when they consume something (such as the
protein substitute) unfamiliar to others. Both instances serve to create a
distinction between the individual with PKU and others. In many cases, this
difference led to a lack of social acceptance, exclusion, and stigma (especially
in childhood).
The interviewees in general held a deep appreciation for the
social nature of food consumption, a topic that the social science literature
elaborates upon in great detail. Indeed, sharing food can be a potent symbol of
community and relationship, friendship, trust, and intimacy.
Alternatively, the refusal of food can send equally strong
messages indicating the refusal of such intimacy—effectively communicating
“enmity and hostility”.18
Individuals with PKU wishing to maintain dietary control must continually reject
food that is not permitted in their strict dietary regimen, and participants
experienced this to be a very awkward social situation—desiring to
maintain their diet, yet not wishing to inadvertently offend. The expectations
involved with the sharing of food (and the resulting temptation and persuasion
initiated by others) was reportedly one of the primary difficulties encountered
in dietary adherence, and one of the most common reasons for transgression of
the PKU diet.
Goffman’s work on stigma provides some interesting
insights into the social nature of difference and the corresponding management
of interpersonal relationships. He speaks of both information management and
impression management in this regard. Goffman uses the concept of controlling or
managing information in the context of difference to refer to the questions of
“to display or not to display; to tell or not to tell; to let on or not to
let on; to lie or not to lie; and in each case, to whom, how, when, and
where.”19 These questions are certainly a
matter of consideration and sometimes concern for adults with PKU, as the
interviews demonstrated. Of perhaps even greater concern for many participants
is Goffman’s concept of impression management.
Many examples of “impression management” were
provided by the interviews, such as one participant’s method of always
explaining her condition in social circumstances so as to not appear
“rude” by her lack of participation in food-related events, or
another participant’s offhanded, trivializing attitude toward her
condition, which she found caused others to likewise regard her condition as
minor and unproblematic.
In listening to participants explain their methods of
managing their interpersonal relationships in the face of social difference, it
is notable that emphasis is routinely placed on the feelings of others rather
than the individual with PKU (as is common with experiences of
stigmatisation19). This has important
implications for treatment adherence. Participants consistently explained that
they were most likely to transgress their PKU diet when the comfort and feelings
of other people were at stake.
For instance, when asked in which situations she would find
herself most likely to abandon (or make exceptions to) the diet, one participant
replied:
...if I’ve been
invited to someone’s place and they’re maybe someone who
doesn’t know me very well, or knows me but they’re really kind of
uptight about being a really good hostess, or...they’re not going to cope
with me saying, “Well I can eat this, but I can’t eat that and
that,” and they’d feel really bad about it...It’s usually more
about the other people than me (female, age 35)
This leads to an interesting finding. Whereas some medical
literature stresses the importance of a strong network of social support in
adherence to the PKU diet,3,5,20,21 and
adjustment to chronic medical conditions in
general,22 participants in this project
alternatively spoke of others primarily as a challenge to dietary
adherence, and consistently reported a very high degree of self-motivation,
self-discipline, and independence in their maintenance of the PKU diet.
Personal Sphere: negotiating incompatible lifestyle
demands—In common with members of the general population,
individuals with PKU have strong feelings concerning the lifestyles they desire
and for which they feel suited.
For instance, the strong disinterest in cooking and baking
expressed by interviewees represents one grave conflict between desired
lifestyle and the substantial time required to prepare special PKU foods (such
as baking with low-protein flour).
In addition, as society shifts towards increasing
consumption of convenience foods, individuals with PKU often feel left behind,
attempting to juggle the modern expectations of jobs and families, without the
aid of quick meal-time options. Several other challenging lifestyle
incompatibilities were also mentioned, including adherence to the PKU diet while
travelling (especially for extended periods of time and in unfamiliar
locations).
A review of the social science discourse around dieting
reveals that this “unrealistic” nature of the strict PKU diet (in
its ideal form) represents one of many similarities between people’s
experiences of the PKU diet and people’s experiences on other types of
diets.
Both the PKU diet and other types of diets (e.g. diets for
weight-loss) are externally defined, and as such, may not take into
considerations the demands of “real life”. Commenting on
women’s attempts to loose weight through dieting (but equally applicable,
it seems, to the situation of people on a PKU diet), Bordo argues that
“...total control [over food] is ultimately unsustainable”
and that “ ‘the diet’ is itself a precarious,
unstable...state....”23
Similarly, Orbach notes that the “ideal”
presented to women on diets for the purposes of weight-loss produces “a
picture that is far removed from the reality of women’s day-to-day
lives”.24 The parallels here are
self-evident and indicative of further insight to be gained through such a
comparison.
The participants in this project negotiate these competing
lifestyle demands partly through strategic dietary flexibility, delineating
between the “exceptions” that would cause guilt and those considered
permissible. For instance, exceptions made for the benefit of others were often
justified, as in the example provided in the previous section. Many also
appeared to view the occasional exception as harmless, but a string of
exceptions as ultimately poor adherence.
As one participant explained...
...it’s not too bad if
I just do a bit here and there, but if [one thing leads to another and]
it all ends up bad choices, then I feel really bad” (female, age 43).
Another participant mentioned that intentional indiscretion
would not cause guilt...
...if I made a conscious
thing that...I was going to eat something and was just going to enjoy it, then
no way [would I feel guilty]” (female, age 35)
Additionally, many participants indicated that
“special occasions” such as birthdays, special meals out, or
weddings, may constitute a justification for making guiltless exceptions to the
PKU diet.
Routine also proved to be a strategic element aiding in
adherence to the PKU regimen for many. Due to the limitations that the diet
imposes on the individual, once a particular system is found to suffice,
participants often hold to that system with little alteration. It is when
participants are caught up in a healthy routine that they find treatment
adherence to be most feasible. This particular strategy, however, is limited in
its usefulness by the unpredictability of life and the impossibility of
maintaining a routine at all times.
Ultimately, every aspect of PKU treatment (from the timing
of blood tests to the invention of palatable, convenient ways to prepare the
medical foods) requires a great deal of organisation and planning.
Participants expressed that one of the most difficult
consequences of PKU is the need to think constantly, and ceaselessly, about
diet. This results in what one participant referred to as a considerable
“mental burden”.
DiscussionThe difficulty of managing the highly restrictive low
phenylalanine diet for PKU has significant ongoing effects for the patients in
all aspects of their lives and serves as a reminder that patients juggle more
than their diagnosis in living with a chronic illness.
Medical consultations have become simply one more arena in
which to form an independent opinion of the relevance or otherwise of the advice
being offered. On the other hand, the clinician has the opportunity to offer
significant support through the provision of compassionate guidance to these
patients in negotiating a life in which the future is perceived to be so
uncertain.
Expert clinical support is also eagerly sourced and highly
valued by women with PKU during their pregnancies when the maintenance of
recommended levels of phenylalanine is difficult to achieve. (The recommended
PKU diet during pregnancy is stricter than at other times, permitting fewer
daily exchanges of phenylalanine. Tight control of phenylalanine levels is vital
during this time as high levels of phenylalanine can cause serious developmental
problems in the foetus20.)
Many of the suggestions made by the participants for
improved care relate directly to the three aspects of living with PKU identified
in this paper.
One frequent grievance raised by interviews concerned new
developments in knowledge and treatment concerning PKU. This was perceived to be
neither readily accessible nor conveniently distributed, and due to the overall
uncertainty felt by PKU adults and their need to personally evaluate available
sources of information in order to choose a course of action, this was
problematic.
Healthcare professionals could reduce this uncertainty by
increasing the volume of information directed to the adult PKU community, and
ensuring that the means of delivery is more appropriate. (For instance, a number
of participants mentioned that information online is either inconvenient if they
do not have ready access to the internet, or untrustworthy, indicating that
there is a need for alternative methods of information distribution.)
The independence of adults with PKU stemming from the nature
of social interaction with non-PKU individuals also has interesting implications
for healthcare professionals. The importance of teaching dietary independence
from a young age—including the cooking skills necessary for dietary
adherence—was raised, as not all participants were given such instruction
during childhood.
Additionally, because their treatment is largely
self-governed, interviewees stressed that the accessibility of their healthcare
workers was important and highly valued. The complexities of contemporary social
life should also be addressed within the clinical consultation.
To advise PKU adults to “bake” in a world of
fast food chains, double income families, and renegotiated gender roles runs the
risk of rendering the medical consultation invalid through its lack of relevance
to contemporary lifestyles.
As we gain better knowledge of the molecular and biochemical
implications of inherited metabolic diseases and design intervention strategies
based on biochemical interactions, it is important to retain the perspective
that treatments should not be based solely on the long-term clinical outcome but
also on the life experiences of the individuals living with the disease.
PKU represents a classical “treatable” inherited
metabolic disorder with a good clinical outcome; however, this research has
demonstrated through exploring the lived experience of PKU, how professional
support could be altered to better meet the needs of those with PKU and their
families.
Competing interests: None.
Author information:
Nicole Frank, Professional Research Assistant, Barbara Davis
Center for Childhood Diabetes, University of Colorado Health Sciences Center,
Denver, Colorado, USA; Ruth Fitzgerald, Senior Lecturer, Department of
Anthropology, University of Otago, Dunedin; Michael Legge, Associate Professor,
Departments of Biochemistry and Pathology; University of Otago, Dunedin
Acknowledgements: This research was
supported by funds from Auckland’s National Metabolic Service and a
University of Otago Masters Scholarship Award. The authors also gratefully
acknowledge Dianne Webster, Callum Wilson, Rhonda Akroyd, and Christine
McMahon for their contribution to the research process, as well as the
participants of this project for their time, insight, and hospitality.
Correspondence: Ruth Fitzgerald, Department
of Anthropology, University of Otago, PO Box 56, Dunedin. Fax: (03) 479
9095; email: ruth.fitzgerald@stonebow.otago.ac.nz
References:
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