Eleanor describes her experiences of life with an autosomal dominant condition.
Eleanor has an inherited (autosomal dominant) progressive neurological condition called Charcot-Marie-Tooth (named after the three clinicians who first described it). CMT affects the peripheral nervous system (the nerves in the arms and legs), leading to numbness in the limbs, and poor motor skills, which can result into muscle weakness and wasting. Now in her seventies, Eleanor describes her life and CMT. Eleanor’s husband, Alan also tells his story.
Point for reflection
How would an individual (adult) receive information about the inherited aspects and reproductive implications of a condition like CMT today?
- If you were approached by a person in Eleanor’s situation, what information would you give them?
- What would you say?
- Where would you suggest they went to seek further information about their situation?
- Using the information she gives in her story, draw Eleanor’s family tree.
An example of Eleanor's family tree and suggested further questions can be found here.
Quotes to reflect upon
"In the sixties I was told in 1966 I was told I must never have children. That was the actual words given to me by a neurologist. And so therefore I became, I suppose in some ways, anti-men and I became very much a career woman. And it wasn’t until the middle seventies when I met Alan, we then got married in the early eighties, so I was late going into the marriage field. Had I not been told that in the sixties, then my life might have been different."
"I didn’t have the support that I would have liked to have had so I suppose... I felt very isolated being told something like that."
“My sister won’t talk about it. She has actually said to me ‘You don’t want to go to groups and mix with people like that."
“At times it’s been quite frustrating because people don’t always understand. And I’m not just talking about professionals, but friends, family and you can often feel very much on your own."
- 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]
Although Eleanor’s experiences relating to being told ‘never to have children’ happened a long time ago, it is still a pertinent reminder of the importance of upholding the right of the patient / client to informed decision making and delivering information fairly, accurately and without coercion or personal bias (NCG 3).
Eleanor’s condition is progressive. This means it is very important for her to be monitored and assessed so that any possible interventions, treatments or aids can be in place to help her. Professionals need to be aware of an individual’s condition and how, particularly if progressive, monitoring must be carried out to ensure adequate and appropriate management. The expression of a condition may change over time (NCG 4).
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
Eleanor gives an overview of the knowledge she has of her family’s history of Charcot-Marie Tooth. During a consultation, a GP would need to be able to ask pertinent questions about an individual’s family history, and have knowledge of inheritance patterns in order to take and interpret a family history accurately (GP-1c).
Eleanor was advised by a doctor that she should ‘never have children’ because of her condition and she talks about the major impact these comments have had on her life subsequently. It is important for all heath professionals to be able to communicate accurate information about genetic conditions and their implications in an understandable way so that patients can make informed decisions which can, ultimately, affect the rest of their lives (GP-2b). As a young woman, to receive the advice never to have children would clearly have a psychological impact. Eleanor also discusses some of the consequences that her genetic condition has had on her relationships with other family members. Eleanor received no support from her mother, and her sister, also affected, will not discuss the condition with her. These points not only illustrate some of the social and psychological implications a genetic condition can have on patients and their families (GP-6b), but also remind us that even within a family, people’s attitudes and views towards genetic information can differ greatly (GP-8b).
Eleanor talks about the care she receives from health professionals such as physiotherapists, occupational therapists, chiropodists and acupuncturists, as well as doctors and nurses not only for the Charcot-Marie Tooth, but also for other, unrelated medical conditions. This shows us how an multidisciplinary, coordinated approach amongst health professionals can benefit the patient leading to a comprehensive and effective management and care (GP-1h).
Eleanor highlights a general lack of awareness amongst the health profession about Charcot-Marie Tooth disease and is happy to share her knowledge and experience of the condition in order to improve awareness and understanding. Indeed, she was instrumental in establishing CMT UK and stresses the importance of support groups, reminding us that they can be important source of information for patients, family members and health professionals alike (GP-1i).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.