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Points for Reflection

In her story, Kath says "I think it would be helpful if they took the partners aside sometimes and sort of said look he’s going to have very black days and you are going to have to cope with the very black days and because you are the nearest and dearest they take it out on you." Who do you think ‘they’ should be in relation to this role?

Activities

1. Reflect on ‘the potential physical and psychosocial consequences of genetic information for individuals, family members and communities’ (NCG 5).

2. How might unaffected individuals react to those with, or at risk of a genetic condition?

3. Consider the similarities and differences in the way family members, friends and the wider community, might behave, think or feel.

Quotes

"I think the children try and understand but it must be very difficult for them to try and understand a disease they know very little of and hope they are never going to get."

"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 Grandad’s disease you know."

"Be patient. It’s hard but you have to be patient and you have to have the black days but laugh about it as well. You’ve got to laugh about it because that’s the way we cope."

Further information

CMT UKwebsite

Further information from CMT UK on managing CMT using orthotics

Carers Direct Information, advice and support for carers

National Genetics Education and Development Centre – CMT

NHS Evidence: genetic conditions briefings - CMT

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

Location: The Stories
Living with a late onset, progressive condition: Kath’s story
A husband and wife perspective on living with Charcot-Marie-Tooth, an autosomal dominant condition in this case.

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

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CMT in the family

Keeping a positive attitude

Support for carers

Concern for children and grandchildren

   How does this story relate to professional practice?

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

Since diagnosis Phillip and Kath 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 this story when Kath 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."

Kath also talks about how she copes with Phillip’s condition and about how they cope together. For high quality ongoing care and support for families managing a long-term condition, it is crucial that the health professional involved are clear about their own roles (NCG 6).

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

Kath maintains a very positive attitude and tries to make sure her husband’s condition changes their life as little as possible. Even so, her story gives us an insight into the social and psychological impact it has on her and says ‘the psychological side of this can be quite bad’ (GP-6b). She would like to see partners or carers receiving support to help them to cope, and describes what it is like to live long-term with this progressive condition saying ‘you do live in the shadow of this disease all the time’. One way in which a GP might be able to assist in this regard might be to provide information on any support services available (GP-1i).

She reflects on the affect the condition has on the family (GP-2c) and also the emotional impact of the diagnosis (GP-8d) saying ‘it must be very difficult for them [the children] to try and understand a disease they know very little of and hope they are never going to get’. Kath describes the anxiety she feels living with the uncertainty of whether any of her grandchildren will be affected by CMT. A referral to genetics services, bringing access to specialist help and advice, might help a family such as Kath’s to address any questions or anxieties they may have (GP-1e; GP-1g).

Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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