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Christine’s story: Perspectives on Charcot-Marie-Tooth disease

An account from a mother and midwife on this autosomal dominant condition.toolkit

There are two main issues contained within Christine’s account of her experiences related to her son, who has Charcot-Marie-Tooth disease . The first section recounts the events that led to his diagnosis, and the implications of this for his sister. The second issue concerns the impact that Christine’s personal experience of caring for, and living with, someone with CMT, has had on her professional role as a midwife.

Toolkit

  • reflection Point for reflection

    1. Christine’s daughter does not wish to have any screening tests, ‘as she would not terminate for any abnormality’. Given that she would not wish this, if you were the daughter’s midwife, would you still discuss the option of screening with her?
    2. Do you agree with Christine’s decision not to be involved with Mrs A’s care? If you were Christine’s line manager, and she approached you to discuss her decision, how do you think you would handle it? Would you support her decision?
  • Activities Activities

    1. The Abortion Act 1967 and the Human Fertilisation and Embryology Act 1990 make particular reference to conscientious objection in Sections 4 (i) and 38 (iv) respectively. Click here to view the HFE Act 1990, and look up section 38. Read the NMC Guidelines for Professional Practice online and refer to the section on Conscientious objection (paragraphs 46-49). Within your learning group, discuss whether you feel a 'conscientious objection clause' is ethically valid within professional Codes and/or Acts of Parliament.
    2. The right to conscientious objection extends only to the actual procedure of abortion, not to care prior, or subsequent to, abortion. Within your learning group, discuss the challenges nurses and midwives may face in raising a conscientious objection on a case by case basis. Is this feasible? What action (if any) could nurses or midwives take if they were not happy with an aspect of practice in a specific case, when a simple opt-out may not be possible?
  • quotes Quotes to reflect upon

    "His sister, who is unaffected, myself and my ex-husband, had blood taken for genetic testing and never got any results back, or any explanations given to us."

    "My own personal life came into my work and all I could think at the time was that if I’d had the choice to terminate my lovely son, what a great mistake that would have been."

    "One of the most important things that health professionals can do, in my opinion, is to listen to parents who comment on their baby’s/ child’s health and well-being and not to make them feel like they are neurotic!"

  • Further Information Further Information

    CMT UK website: http://www.cmt.org.uk/

    US National Library of Medicine, Genetics Home Reference website: Charcot-Marie-Tooth

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 initial difficulties that Christine experienced highlight the importance of health professionals being able to identify clients who might benefit from genetics services and information (NCG 1). She echoes this point in her penultimate paragraph.

    In choosing not be involved with the care of Mrs A, Christine was recognising that her personal values and beliefs would influence the care and support she could provide, and thus was demonstrating NCG 3.

  • 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

    Christine recalls the details surrounding her young son’s diagnosis with CMT. To her knowledge, there was no family history of CMT and her concerns about her son’s development were dismissed by the healthcare professionals she came in to contact with. Eventually, Christine had to insist her GP referred her son for further medical investigation and subsequently CMT was diagnosed. This highlights the importance of being able to identify patients with a genetic condition even if there is no family history (GP-1b) and making appropriate referrals to genetics services so that specialist help can be obtained (GP-1g).

    Christine also discusses the personal and professional challenges she faced as a midwife when having to care for a patient who had undergone several terminations as the foetuses were affected by CMT. She says “Although it was obvious that this lady’s CMT was a lot more severe to my son’s, I was upset and not able to care for her”. As a healthcare professional, it is important to be able to discuss genetic conditions in a non-directive, non-judgemental manner, appreciating that people have different attitudes and beliefs about inheritance and ensuring one’s own beliefs do not influence the management options offered to a patient (GP-8c). It also highlights the heterogeneity in genetic diseases and the need for a good appreciation of this (GP-3d).

  • 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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