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A parent’s story: the need for clear information, not false reassurance

Alkaptonuria, an autosomal recessive condition.

This story tells a quite familiar tale of the parents’ initial struggle to have their concerns over the well-being of their child acknowledged, and then of the need to have clear and realistic information about the condition, once diagnosed.


  • reflection Point for reflection

    1. Where a condition is rare, it could be argued that it is unreasonable to expect a health professional to be alert for the possibility of an individual having that condition. Against this backdrop, the issue of patient (or carer) as expert gains more precedence and a parent who feels something ‘isn’t right’ should be listened to. When a diagnosis is made, the health professional and patient/carer as partners in care should be able to learn together.
    2. How would you have approached the care of this family? Would you have been able to pass on information about the relevant support group? Would you know where to go to find out that sort of information? Do you feel that with so much information readily available now, it is appropriate that patients/carers should take responsibility for accessing this themselves?
  • Activities Activities

    Go to the AKU Society web site and look up the ‘What is AKU’ page. On the basis of what you read there, what additional information would you give parent's about the prognosis for their children? What specific lifestyle advice would you give?

  • quotes Quotes to reflect upon

    "When the results came in, our GP told us not to worry, that the disease wasn't very serious and recommended that we don't go and do a search for Alkaptonuria on the internet because it would make us worried."

    "Thanks to the internet, we’re also in touch with a number of people around the world who have AKU or whose children do. This means that we can share information about how the disease evolves, tips on how to deal with it and ideas on how to raise awareness. I suspect that people with rare disorders and their parents were much more isolated in the days before new media."

  • Further Information Further Information

How does this story relate to professional practice?

  • cogs Nursing Competencies

    [We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]

    The predominant theme through this story is communication. The parents’ need for accurate and honest information is evident, as is their need to have this expressed clearly and at a pace to suit them both. Communication is a two-way process of course, and these parents were not always listened to, particularly about their initial concerns for their child. Their need for detailed explanations was also not ‘picked up’ by the health professionals involved in their care. All of these issues highlight the relevance of NCG 7.

    Although the emergency doctor appeared to dismiss their concerns about their child, their GP did recognise that there might be a problem and arranged for tests for the child that led to the diagnosis of AKU. At this point the family were referred for genetic counselling (NCG 1).

    Alkaptonuria was the original inborn error of metabolism discovered and described by Garrod at the beginning of the 20th century, in 1902. Although it is a relatively rare condition, its historical interest means that it is no stranger to medical text books, and, with its characteristic sign of the darkening urine, it is perhaps surprising that the one health professional did not consider an inborn error of metabolism as a possibility. In dismissing the condition as ‘not very serious’ the GP was not demonstrating an understanding of how AKU impacts on health in the longer term (NCG 4).

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs Learning Outcomes for GPs

    We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at:

    As a result of the tests ordered by the GP, a diagnosis of AKU was made. Whilst we do not know whether there was a family history, the GP was able to identify a genetic condition (GP-1b). Following diagnosis, the GP realised his own professional limitations and referred the family onwards to a genetics and metabolic disorders specialist for expert help (GP-8a; GP-1g).

    The family came across the AKU Society as a result of their own research. Health professionals should be aware that, as in this case, such groups can be a valuable source of support to patients and their families, often at very unsettling and traumatic times when help is much needed (GP-1i).

    We see from this story how important it is for health professionals to be able to spend adequate time with patients and families during consultations (GP-7a) to convey often complex genetic information in a clear, comprehensive and understandable way (GP-2b). Jayne felt that the doctors she encountered were not prepared to spend the time doing this and says ‘the doctors were only prepared to give us a few minutes maximum…..if nurses and doctors could spend time, even just half an hour, taking us through the basics of what causes the genetic disease and the current state of research that would help’.

  • cogs Learning Outcomes for Medical Students

    Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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