All Stories

Syndrome Without A Name: A grandmother’s tale

A complex congenital condition with no definitive cause, Yvonne’s story.

This story is from a grandmother describing her granddaughter. The granddaughter’s symptoms are complex and despite many tests, there has been no definitive diagnosis.

Toolkit

  • reflection Point for reflection

    If you were in such a situation where Yvonne’s granddaughter came onto the ward, or registered with your community practice, how would you deal with the situation?

  • Activities Activities

    1. Discuss how you would familiarise yourself with the patient and her condition.
    2. Who would you ask or where would you seek additional information about the situation?
  • quotes Quotes to reflect upon

    "We spent a lot of time in hospital without getting any real answers as to why she suffered like this."

    "The full realisation doesn’t dawn immediately. I don’t suppose that there is a day when it does. We kept saying things like, ‘Well next Christmas she will be able to play with her toys.’ It’s a gradual acceptance that this is not going to happen but that small spark of hope always continues to burn."

    "One doctor told us, ‘The end may come like falling off a cliff and there is nothing we can do to stop it - but this might not happen!’ How do you live with this? To watch a child suffer and no way to help."

  • 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]

    This story highlights how family members are involved in caring for affected relatives. Here, we see that Yvonne has been closely associated with her granddaughter’s care since she was born. We can see from this story that despite many consultations and tests, there may not always be a conclusive diagnosis for each individual. The associated issues related to this can mean that families feel isolated when coming to terms with their situation. Health professionals who may be unfamiliar with the family may be unsure of what needs to be done. NCG 6 tells us of the importance of knowing one’s own limitations and when to seek advice from an expert such as a geneticist. On this occasion, working with the immediate experts, the family would be a very good place to start.

    Yvonne described the health visitor as a good source of support. NCG 7 states the importance of obtaining credible, current information to help the family, colleagues and yourself as a professional to assist everyone

  • 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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