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Making a good thing out of it as we can: Penny's story

A grandmother’s story of living with Charcot-Marie-Tooth, an autosomal dominant condition.

Penny’s story covers six generations of a family with Charcot-Marie-Tooth disease. She speaks eloquently and positively about living with this condition.

Toolkit

  • reflection Point for reflection

    One of the striking features of this story is Penny’s positive attitude to her condition and its ‘place’ in the family. What factors do you think have contributed to this? Which factor do you think has played or plays the biggest role?

  • Activities Activities

    1. Draw Penny’s family tree, starting with her great grandparents and finishing with her two grandchildren. This is quite a challenge as it runs over 6 generations - but have a go!
      • For help on drawing a family tree, refer to Gaff (2005)Nursing Standard 20(1):49-53.
      • Use a solid black symbol to indicate family members affected by CMT. Use a diamond symbol to indicate children where the sex is unknown from the history given. For the purposes of this exercise, assume that the two unaffected siblings in her grandfather’s generation did not have children.
      • What further questions would you ask Penny to clarify her family history?

      An example of Penny’s family tree and suggested further questions can be found here.

    2. Imagine you are the primary care nurse with responsibility for the ongoing care and support of Penny and her family. List the number of professionals with whom you might have contact, and briefly indicate their roles in this. Would you know how to contact all of these people in your area?
    3. What special consideration do you think should be given to grandparents? Make a list and then visit Contact A Family’s page for grandparents and read the issues they highlight and address. [Also available to print as a PDF]
  • quotes Quotes to reflect upon

    "My Dad although barely affected felt very guilty about passing it on and even worse when my daughter was diagnosed. I do not feel the same."

    "It has never changed my life, when you have CMT that young, it becomes a way of life, and you learn to adapt."

  • 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]

    Penny clearly feels she has benefited from the support she and her family have had from health and social care professionals. This level of support requires effective coordination and communication between agencies (NCG 6).

    For Penny and her family to have had this help and support, health professionals involved in their care must have recognised the hereditary nature of the condition, and made appropriate referrals, thus demonstrating NCG 1.

  • 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: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf

    Penny is very knowledgeable about the history of Charcot Marie Tooth in her family and as such, a GP should be able to take and interpret her family history using their knowledge of relevant questions and inheritance patterns (GP-3b). Penny’s story is a good example of how a GP could utilise family history information to identify patients in their practice population with, or at risk of, a genetic condition (GP-1c). This family history information would also be relevant to the GPs of her other family members, including the younger children and grandchildren.

    Penny recalls how her father, although barely affected by CMT himself, felt very guilty about passing it on to his daughter and granddaughter where as Penny does not feel the same. Penny has always held a very positive outlook and told her daughter, also affected, about the family’s condition at an early age. This demonstrates the very different attitudes towards genetic information that patients and families can have (GP-8b).

    Penny feels she has received good support and help from various health professional including GPs, surgeons and occupational therapists. By coordinating care with other primary care professionals, geneticists and other appropriate specialists, GPs can play a key role in providing effective, patient-centred care to those with genetic conditions (GP-1h).

  • 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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