of Inborn Metabolic Diseases
Peter Burgard, Udo Wendel
B.1 Introduction
There are at least five reasons to deal with communication in the domain of inborn metabolic diseases (IMD):
1. IMDs are rare diseases, and it is very unlikely that families and patients have some a priori knowledge about these diseases. In a situation perceived as important, lack of resources in terms of knowledge and skills will result in a feeling of helplessness and anxiety. Information can reduce the knowledge gap and communication can establish trust and reduce anxiety, thereby stimulating active coping strategies.
2. Patients and families have to be taught knowledge and skills, since most of the treatment is done in a self-administered way on a daily and, in some diseases, on a 24-h schedule.
3. Evidence-based patient information requires the translation of complicated facts and logic into every day language.
4. Treatment of IMD is an interdisciplinary clinical enterprise requiring rapid transfer of information between the different disciplines as well as with the patient.
5. Information transfer and communication is explicitly required for fulfilling ethical as well as legal rules for the achievement of informed consent.
Communication skills must be learned by exercise, but theoretical knowledge can guide practice and improve performance. This chapter introduces the basic concepts of communication and information transfer in the domain of IMD.
The basic reason for this article is not to be seen primarily in content but in structure. Most of the ideas presented here are well known and would intuitively be judged as right. However, the main barrier to successful communication is seen in lack of structure. Therefore, we recommend explicitly planning, monitoring, and evaluating the act of communication instead of relying on intuitive strategies or on the expectation that success in communication is unpredictable or will emerge just in the process of dialogue. Nevertheless, we encourage the reader to modify the techniques whenever it seems appropriate.
Like diagnostics and treatment of IMD, successful communication is not art but the result of controlled strategies and techniques. Although not exactly
16 The Role of Communication in the Treatment of Inborn Metabolic Diseases
the same, for reasons of simplicity we use the terms “communication” and
“information transfer” synonymously.
B.2 Dimensions of Communication
Communication is the process of information transfer from a sender to a re- ceiver. This process can be unidirectional (in mass media communication, e. g., when a booklet is handed to a patient) or bidirectional (e. g., personal meeting of a patient in an outpatient clinic). Verbal communication primarily relies on spoken or written words (vocabulary and syntax), but in some cases also on motor behaviour (e. g., sign languages). Nonverbal aspects of communication include mimic expression of emotions, body posture, prosody – i. e., the melody of speaking, and speed of sending information. Different media can express the content of a message: executing actions, showing pictures, and the presentation of spoken or written words.
In the domain of IMD the metabolic team should be trained in verbal and nonverbal communication and in the use of different media. Iconic media (e. g., graphs, figures, simplified metabolic pathways) can be very helpful for increas- ing the amount of transmitted information. With regard to verbal commu- nication, empirical research has demonstrated that speakers have a tendency to overestimate the amount of transmitted information. Therefore speakers should be trained to follow the RUMBA rule. Messages should be:
• Relevant: avoid irrelevant details
• Understandable: adapt to the receiver’s language and language skills
• Measurable: only say what can be proven
• Behavioural: refer to behaviour and its effects and be parsimonious with regard to attitudes
• Achievable: adapt to the receiver’s (intellectual and behavioural) limitations when making recommendations
B.3 The Ideal Situation
Communication is very sensitive to loss, addition, and deterioration of con- tent if information is transmitted over several steps. In addition receivers of information are very sensitive to even marginal and meaningless differences in messages.
Therefore, it is highly recommended that the therapeutic team is coordinated with respect to the treatment of a particular patient. In the initial phase – usually when the diagnosis and treatment is explained for the first time – the whole team should meet the patient and the family. Participants of such a meeting should be:
A. Both parents or all persons involved in everyday treatment and care B. The patient
C. The paediatric metabolic specialist D. The dietician
E. The psychologist
F. The interpreter where necessary
It is often argued that too many people would demand too much from the family and make successful communication impossible. According to our experience, families appreciate very much if they are introduced to the whole team. It is also argued that it is too time-consuming and therefore not efficient to include the whole team, but it will be more time consuming to correct families’ perceptions of apparent divergent information given by different members of a team.
To assure successful communication and information transfer with regard to IMD, we recommend being aware of the following conditions:
A. The sender should have a programme, i. e., a specified set of messages ar- ranged in a logical sequence.
B. Who should participate in the communication and receive the messages? At least in the first meeting of a family with the metabolic team all members of the team should be present. The family will learn how the different profes- sions interact and why the multiprofessional team is necessary for diagnosis and treatment.
In general, treatment of IMD is a family enterprise. Both parents should be present at least during the first meetings, and where necessary other care- givers (e. g., grandparents) should be included. When patients reach school age, communication should be explicitly cut in three phases: speaking with the whole family, speaking with the patient, and speaking with the parents.
At the latest, during adolescence it is necessary to speak with the patient as well as with the parents alone.
C. What kind of material (media) should be used to intensify information transfer? In order to avoid unnecessary repetition, it is helpful to use a semi- standardized set of material, allowing later on to bring the family’s attention to already transmitted information. It is also necessary that the different professions involved know each other’s core messages.
D. How much time will be needed to realise successful communication and information transfer? Allocate sufficient time according to the content of your message. It is better to postpone a subject to another meeting than to say too much at the same time.
E. What are the setting parameters to support communication and information transfer? Setting and sitting extremely influence communication and infor- mation transfer. Sitting side by side (instead of face to face) with a family creates an atmosphere of cooperation and is helpful for explaining iconic material. Avoid interruptions by telephone calls and computer or paperwork.
18 The Role of Communication in the Treatment of Inborn Metabolic Diseases
These interruptions are like noise and decrease the quality of communica- tion.
F. Dealing with information from other sources. Be aware that patients and families will also use other medical as well as nonmedical sources of infor- mation (other family members, general practioners, encyclopaedias, web sites from the internet). Allow the family to refer to this information and offer room for discussion.
B.4 Prototypes of Communication in the Domain of IMD
There are six prototypes of communicative situations in the domain of IMD (see Table B.1). Each of these prototypes has several exemplars repeatedly emerging in the longitudinal course of counselling and treatment. Explaining the diag- nosis is a central issue in the first contact after a positive result in neonatal screening. However, it will reappear in later contexts. First, the diagnosis has to be explained to the parents; second, it has to be explained to the patient; third, parents and patients need support how to explain the diagnosis to relatives, friends, nursery school teachers, and future spouses. Genetic counselling also is a key issue in decision-making concerning further reproduction in families with an index child but also for patients reaching the age of reproduction.
Table B.1. Prototypes of communication in the domain of inborn metabolic diseases 1. Explaining the diagnosis and disorder: introduction of the vocabulary necessary
to explain the name of the disease, its aetiology, physiology, medical and laboratory investigations
2. Explaining standard treatment and care
3. Explaining the course of the disease and outcome (chances and risks) 4. Explaining emergency situations and emergency treatment
5. Monitoring of the treatment: regular investigations, contacts in outpatient clinics 6. Genetic counselling
B.5 Critical Issues in the Prototypes of Communication:
For Example, Phenylketonuria
I Explaining the Diagnosis and Disorder
Introduction of the vocabulary is necessary to explain the name of the disease, its aetiology, physiology, and medical and laboratory investigations. The literal meaning of phenylketonuria is “phenylketones in the urine”. This terminology has lost its meaning for historical reasons since this diagnosis, and treatments are no longer are based on parameters in the urine. Instead, the disease is diagnosed and treatment is monitored by parameters in the blood, i. e., hyper-
phenylalaninemia, meaning “increased levels of phenylalanine in the blood”.
Aetiology refers to a genetic defect and physiology is based on enzyme defi- ciency. None of these concepts is part of common sense. Genes can be explained as analogues of recipes, enzymes as transforming machines, phenylalanine as a basic nutritional component. All of them are hidden components of life and can only be demonstrated by laboratory techniques.
I Explaining the Standard Treatment and Care
The core concept of treatment is secondary prevention, i. e., in the case of suc- cessful treatment, the family and the patient will never experience what will be prevented. As a result the reasons for treatment can only be understood on an intellectual basis, whereas the treatment itself has practical implications for each day in the patient’s life. Prevention is realised by withdrawal of convenient dietary components and supplementation of special products, often perceived as prohibition of normal living. In the extreme this results in the overgenerali- sation of an abnormal life. Parents should be directed to the fact that individual family life-styles or parenting strategies often deviate from mainstream be- haviour (e. g., Muslim families have no problems keeping their children away from pork).
I Explaining the Course of the Disease and Outcome (Chances and Risks) Preventive medicine makes the disease a hypothesis instead of a fact. Explain- ing the course of the “disease” bears the risk of euphemistic explanations such as “development will not be normal”. Given the long-term cumulative effect of increased phenylalanine blood levels, the euphemism might loose its ex- planatory power. Instead phenylalanine in high levels could be introduced as a poison destroying the brain in the same way as continuous drops of water hollow a stone. Prevention can be explained as analogous to seat belts.
I Explaining Emergency Situations and Emergency Treatment
In many IMD, emergency situations result from fasting and/or catabolism, particularly during the night or during febrile illness, i. e., hidden concepts.
Explanation of metabolism as a continuous and reversible process can support the understanding of recommendations and their benefits and risks.
I Monitoring the Treatment
Regular laboratory investigations and contacts in outpatient clinics are neces- sary for successful treatment of IMD. These are instruments to make hidden variables visible in the same way as rear-view mirrors help people to drive safely.
20 The Role of Communication in the Treatment of Inborn Metabolic Diseases
I Genetic Counselling
Autosomal recessive inheritance is responsible for the silent transmission of mutant alleles in heterozygotes. The explanation of a diploid set of genes (recipes) can be helpful to explain that both parents’ and their ancestors’ genes contributed to the disorder of their child. For most people probability calcu- lations of risks are too complicated and abstract for understanding aetiology and the chances of repetition in further reproduction. Exercising a two coin-flip experiment with some trials (in general 20 will be sufficient) will bring evidence to the abstract concept of probability (see also the “measurable” term of the RUMBA rule).
B.6 Teaching Skills
Technical skills such as calculating the diet, tube feeding, taking blood sam- ples, and when and how to contact the metabolic laboratory should be taught and trained in special lessons assisted by dieticians, nurses, and psychologists.
Teaching small groups of families and patients can profit from positive mod- elling and learning from peers. Patient organisations exist for most IMDs. They are helpful for several reasons:
1. Patients in age groups other than the index child can be models for the outcome of treatment.
2. Patients and families can be models for coping with the different aspects of the disease.
3. Patient support groups offer addresses for getting special dietary products.
B.7 Prototypes of Communicative Relations
There are two prototypical relations between sender and receiver in commu- nication. A receiver with heteronomous orientations seeks for directives, i. e., concrete and executable plans and recommendations of what to do; monitoring functions as external control. These directives can also help parents to com- ply with recommendations in the interaction with their child by transferring the burden of explaining the necessity of the daily treatment activities to the metabolic team.
A receiver with autonomous orientations seeks for information, i. e., ideas what could be done. Monitoring has the function of external feedback for internal control. This feedback helps parents and patients to find their own way to be in concordance with treatment recommendations, to make their own (evidence-based) choices, and to design their daily treatment activities.
Treating heteronomous receivers as autonomous ones can make them helpless.
In addition they might perceive the metabolic team as weak or over-demanding.
Treating autonomous receivers as heteronomous ones can make them rebel, since they might result in the perception of the metabolic team as rigid or authoritarian. Orientations can be variable over time and situations: sometimes patients just want a trustworthy expert to tell them what to do. Sometimes they want to make their own choices but need details (such as facts and probabilities) in order to do so. Sometimes they want help in organizing their thinking.
B.8 Summary
Communication and information transfer in IMD aim at successful coping with the diagnosis and treatment recommendations, as well as with the results of treatment. Successful coping involves cognitive, emotional, and behavioural aspects. Each aspect has its own vocabulary and syntax, its own setting and timing, to be realized by the grammar of the metabolic team (Table B.2).
Table B.2. The grammar of communication in inborn metabolic diseases
Dimensions of disease Cognitive coping Emotional coping Behavioural coping
Structure: etiology and nosology Knowledge;
understanding
Attitude Learning
Process: treatment and monitoring Planning: starting/
executing action
Motivation; will Skills; cooperation Result: outcome Analysis of experience;
regulation
Tolerance for frustration
Adaptation
References
1. Morgan M G, Fischoff B, Bostrom A, Atman CJ (2002) Risk communication. A mental models approach. Cambridge University Press, Cambridge
2. Br¨ugge Jimison H, Sher PP (2000) Advances in presenting health information to patients.
In: Chapman GB, Sonnenberg FA (eds) Decision-making in health care. Cambridge University Press, Cambridge, pp 334–361
3. Williams K, Mellis C (2000) Putting evidence into practice. In: Moyer VA et al. (eds) Evidence-based pediatrics and child health. BMJ Books, London, pp 100–105
