The loss of a much loved son: Veronica’s story

A mother’s account of dealing with a diagnosis of adrenoleukodystrophy, an X-linked condition.

Daniel’s parents first noticed changes in their son when he was six years old. Just over a year later, he died. This story reminds us of how important it is to deal with delivering bad or difficult news in a sensitive and considerate way.


  • reflection Point for reflection

    1. Really there are two issues here that Veronica has to cope with. First she has to come to terms with knowing that she passed on the gene change to her son. Secondly, she has to deal with the implications for her own health which she describes as ‘a huge black cloud hanging over my head.’ The potential outcome is a potent mix of emotions including grief, guilt and anxiety. What can health professionals do to help people like Veronica and her husband?
    2. Once in hospital, and with the condition diagnosed, the client’s parents found that the staff did not know enough about adrenoleukodystrophy (ALD) to help manage the condition correctly. Consider how you would approach the care of a client who has a condition that you have not dealt with before. Would you know where to go to for creditable information? Consider whether you would know how, and to whom, you should make a referral, if appropriate.
    3. Veronica’s experience may have been helped if she had felt that the health professionals had been able to anticipate problems and react quickly when faced with a condition they had little experience of. Think about how you would prepare yourself and colleagues to care for the patient. In light of this story is there anything you would do differently?
  • Activities Activities

    1. The parents in this story were affected by the way in which the diagnosis was given to them both in terms of how they were told and who was present.
      • Find out if there any guidelines for delivering bad news that exist locally (i.e. within your Trust) or are defined by your professional body.
      • Role play giving news of a new, unexpected diagnosis which can often be life-threatening, with a colleague. Discuss how you could prepare parents in some way before breaking the news to them.
    2. Identify the steps you and your colleagues would take to ensure that pain and muscle relaxant management was effective.
    3. ALD is an X-lined condition. List the features associated with this type of inheritance pattern. What are the possible combinations of sex chromosomes that could be passed on by a carrier female and unaffected male? You may find it helpful to use a diagram or punet square. You might find it helpful to refer to the NHS Evidence website for a summary of inheritance patterns ( or to the InnovAIT article ( on recognising the common patterns of inheritance in families in a primary care setting.
  • quotes Quotes to reflect upon

    "Medical schools need to spend more time teaching students how to break bad news in a sensitive way. Many of the medical professionals (particularly consultants and registrars) we encountered were arrogant and unsympathetic - they need to realise that they are not ‘God’".

    "I’m not going to beat around the bush - it’s terminal". After that everything was a blur." "My husband went to pick my son up (he’d been playing football with one of the physiotherapists) and was asked to measure him up for a wheelchair when we got home."

  • 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]

    Communication is a key theme throughout this story. At the initial diagnosis, the parents were "given a considerable amount of misinformation by an inexperienced and yet overly confident registrar". This registrar failed to both ‘Recognise the limitations of his own genetics expertise’ (NCG 6), and tailor the information he gave to the family (NCG2).

    After their son was transferred to another hospital, the parents found that the staff were much more sympathetic, but had little experience of adrenoleukodystrophy (ALD). Accessing and sharing information (NCG7) may have enabled staff to pre-empt complications and improve the end of life car for Daniel and his parents.

  • cogs Midwifery Competencies

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

  • cogs Learning Outcomes for GPs

    Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.

  • 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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We are always looking for new stories to add to this site, and are particularly keen to hear from more practitioners. Your colleagues can learn so much from how you’ve dealt with situations which involved genetics.

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