Supporting a wife with an autosomal dominant condition – Alan’s story.
Alan’s wife Eleanor, has Charcot-Marie-Tooth (CMT), an inherited progressive neurological condition. Although Eleanor is still very mobile and independent, Alan is Eleanor’s carer. He helps her with some daily chores that she is unable to do due to her condition. In his story, Alan shares with us his thoughts when he was considering his future with Eleanor. Alan’s wife, Eleanor also tells her story.
Point for reflection
Read Eleanor and Alan’s Stories. Both have said how they are approached by professionals wanting to learn more about CMT.
In your clinical practice, what sort of questions might you ask patients and their families to learn more about a specific condition?
Quotes to reflect upon
"and I was thinking - does it actually matter that it’s progressive? Am I going to finish up being a nurse? And I thought well if it does, it does. If it doesn’t, it doesn’t. I’m quite happy to take that on."
"because it’s a progressive condition, you realise something you could do - you can no longer do, but you can’t actually say the point in time when you actually discovered or you actually decided you couldn’t do it."
"And that’s my quandary as a companion and a carer. Trying to do the best and I never get it right. That’s the point and there is no way that as a carer you can ever get it 100 per cent right. You are either doing too much or not enough"
- CMT UK - http://www.cmt.org.uk/
- US National Library of Medicine, Genetics Home Reference - Charcot-Marie-Tooth - http://www.ghr.nlm.nih.gov/condition=charcotmarietoothdisease
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]
As a carer, Alan has much interaction with clinical and nursing staff. His experiences have made him realise how important it can be for professionals to ask the patient about the condition - as they themselves are often the expert - particularly for rare conditions such as CMT.
Alan’s story highlights the importance of obtaining credible, current information for self and colleagues (NCG 7). Health care professionals should be aware that as well as traditional sources of information such as published literature and the internet, a very important source is often the individual with the condition and also any carers involved in their care.
Content relating to the midwifery competencies in genetics will appear here shortly.
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
Alan talks about the effect Eleanor’s progressive condition has had on their life together and the impact it has had on their social life. He also describes his role as Eleanor’s carer and the challenge of achieving a balance as a companion and a carer. His account gives us an insight into some of the responsibility that falls on carers and the social and psychological impact that this can have (GP-6b).
Alan discusses some of the different aspects of Eleanor’s CMT and describes how the management of this includes support from occupational therapists, physiotherapists, social services, doctors and nurses. This highlights that genetic conditions are often multi-system disorders requiring input from other specialist health practitioners (GP-4a) and that GPs can play an important role in coordinating care with other appropriate health professionals leading to effective care for someone such as Eleanor (GP-1h).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.