CMT in the family

Keeping a positive attitude

Support for carers

Concern for children and grandchildren

[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.