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Living with a late onset, progressive condition: Phillip’s story

One of two stories offering a husband’s and wife’s perspective on living with Charcot-Marie-Tooth, inherited as an autosomal dominant condition in this case.video

A husband and wife [see Kath’s story] talk about the last 20+ years living with a condition that affects the nerves of the arms and legs; the long wait for a diagnosis and the challenges in gaining information about managing the condition.

Toolkit

  • reflection Point for reflection

    Phillip says of his sister "She was in denial over a period of years that there was a problem but now she is coming to terms that she has a problem". How might this situation impact on family dynamics?

  • Activities Activities

    1. Not all cases of CMT are inherited in the same way. Use the link to the website to find out about other forms of inheritance pattern that could occur with this condition. Are they managed in a similar way?
    2. Look at Competence 5 and consider what the ‘utility and limitations are of genetic testing and information’ are for the children and grandchildren of someone with a genetic condition. Discuss with your learning group at what age you think children in such families should be offered testing.
    3. Is it a good thing to know that you have the gene change for a condition that will affect you later on in life? How do you think someone might react to the information, particularly if there is no way of determining when the symptoms might begin or how affected the individual might be?
    4. What follow-up care plan would you devise for a patient in your care who has just been issues with ankle-foot orthoses for the first time?
  • quotes Quotes to reflect upon

    "Because we used to live a damn good life so it’s an imposition. It’s annoying. It’s frustrating, very frustrating."

    "They are seeing so many thousand patients and yet probably once every four or five years someone walks in with this condition."

    "So I think what you are doing here could be really beneficial to the medical profession in helping them to understand the day-to-day problems that people have with it."

    "It wasn’t until I began to look at them [AFOs: ankle foot orthoses] that I started to investigate it myself through my GP and I said look I’m not happy with these things and then he and I began investigating how I could get more and better ones"

  • 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]

    In the opening lines of this interview, we can see just how important a family history can be in ‘assessing predisposition to disease (NCG 1). Phillip describes how three family members (mother, uncle and grandmother) all have a problem, "So I knew there was a problem but it was just a problem no one knew anything about." Since diagnosis the couple have been learning to live with the condition, but they always have one eye on the future. With two children and four grandchildren, they are living with the uncertainty of whether any of them will also be affected (NCG 5). This is particularly clear in Kath’s story when she says "I also watch the grandchildren like hawks and God forbid, they don’t get it. It’s always in the back of your mind. It’s always in the pit of your stomach if ever they’ve got a problem, is it Granddad’s disease you know."

    By talking about the progression of the condition and its effects on day to day life, we can see that there can be a large variation in symptoms, not only over time for an individual, but Phillip talks about other people who have been affected in different ways (NCG 4). In Phillip’s case, the condition began with tingling and then numbness in the feet, and now requires him to wears leg splints because of the muscle wasting that has occurred. With the potential for stress to exacerbate the problem, Phillip made the decision to retire from work.

    This story also highlights the importance of obtaining accurate and current information for the patient and their family and the important role support networks can play in providing this (NCG7).

  • 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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