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The need for improved communication: Louise’s story

Cri-du-chat syndrome - a condition caused by a chromosomal abnormality.

Louise’s daughter has cri du chat syndrome, a rare chromosome disorder, where the child will have a high pitched "cat-like" cry at birth. Louise describes the journey to date and the symptoms that her daughter has presented with. Louise believes that better communication is needed between healthcare professionals and parents, so that they might be able to better prepare themselves for the genetic diagnosis.

Toolkit

  • reflection Point for reflection

    1. Imagine that the parents of a child with special needs in your area are concerned about his/her education. Think about how you could assist them as a healthcare practitioner.
    2. In her story Louise says "Next thing, I had an appointment with a consultant. Thinking this was about her "clicky hip", I went along to discover my doctors and health visitor had suspected she had this syndrome."How could Louise’s GP and health visitor have best prepared her for that first appointment with a consultant?
  • Activities Activities

    1. What warning signs or factors might alert a midwife or neonatal nurse to the possibility that a newborn might have a genetic syndrome?
    2. Find out what range of symptoms a child with cri du chat syndrome might have.
    3. Cri-du-Chat syndrome is associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from a few base pairs to the entire short arm and evidence exists to suggest that the size of the deletion is related to the severity of symptoms. Find out what you can about how the size of the deletion might relate to the range of symptoms.
    4. Louise talks about the special educational needs school that her daughter goes to as being “an amazing special needs school which she loves”. Who is responsible for ensuring that the educational placement is appropriate for a child with special need?
    5. Louise stresses the importance of parental support groups. Find out what type of support is available in your area and what information could be used to enable parents to find an appropriate group?
    6. What information would you give the family about reassurance risk for any future pregnancies? How would you find out this information?
  • quotes Quotes to reflect upon

    "When I first had my daughter, as a new parent, you think what she is going to be like? What will her firsts words be? When will she take her first steps and what school will she go to?"

    "After she was diagnosed with cri du chat, it was more a question of will she walk? Will she talk? Will she go to a 'normal 'school? It will be a long time before these questions are answered."
    "To improve the care of any family with a child with learning disabilities, what is required is improved communication."

    "Tell parents what is going on, so they can mentally prepare themselves and look for support as soon as possible."

    "My local GP surgery failed to tell me anything about my daughter and her condition."

  • 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]

    Louise says that her whole life changed when she found out her daughter had cri du chat syndrome. She had to change her job for flexibility, enabling her to attend hospital visits. Also, Louise has concerns about how her child will develop and if indeed she will go to a "normal" school, as the syndrome often involves developmental delays and learning disabilities of one type or another. This highlights the potential social and psychological consequences of genetic information for individuals and family members (NCG 5).

    Louise’s doctor and health visitor suspected her daughter had cri du chat syndrome because of her cry and other features. They recognised the need to refer her to a genetics service, where blood tests were done and a diagnosis made (NCG 1). However, Louise says that the doctors at her GP’s surgery failed to tell her anything about her daughter’s condition and she was unprepared for the clinic appointment (NCG 7). As the GP is the first point of access for healthcare, it would be useful for the primary care staff to have some knowledge, which might help them to support families such as Louise’s in a more positive way.

  • 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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