Bob’s story of life with this autosomal recessive condition.
This story tells us of Bob’s life with Ataxia. He describes how it has affected many aspects of his life – from his physical mobility to employment and the risk to his family of inheriting the condition. This story shows that although there is no cure for ataxia, health and social care professionals can help him manage his symptoms effectively e.g. through the use of aids and respite care.
Point for reflection
- Bob describes the input of social services in his life. Consider the input that they could have in the life of your patients and how you could support that.
- 2.Bob talks about the discrimination experienced as a wheelchair user. Identify these issues and discuss.
- The story here describes the risk for the storyteller’s daughter who wanted to pass a medical examination for her career. If the storyteller was one of your patients and his daughter had approached you for information about her own risk of ataxia - how would you deal with this? What would you do and what would you say to her?
- Identify the different benefits that could be received by Bob to support him
- How useful might the Disability Discrimination Act be in Bob’s story? How much knowledge do you have?
Quotes to reflect upon
"I am just thankful I suffer no pain as so many friends do."
"I am afraid the general impression of the general public is the blanket one - that unfortunately, a wheelchair user must have a deficiency in all areas - not true."
"What does surprise me is that the consultants concerned with the diagnosis have not been interested, except when I persisted and even then I was left not much wiser."
- Ataxia UK: http://www.ataxia.org.uk/
- US National Library of Medicine, Genetics Home Reference: Ataxia - http://www.ghr.nlm.nih.gov/ghr/glossary/ataxia/
- Multiple Sclerosis Society: http://www.mssociety.org.uk/
- Carers UK: http://www.carersuk.org/Home
- Information on public services (http://www.direct.gov.uk/Homepage/fs/en/). See sections on ‘Caring for someone’ (http://www.direct.gov.uk/CaringForSomeone/fs/en) and ‘Disability Living Allowance’ (http://www.direct.gov.uk/DisabledPeople/FinancialSupport/FinancialSupportArticles/fs/en?CONTENT_ID=10011731&chk=j4gVFM/).
- British Association / College of Occupational Therapists - http://www.cot.org.uk/newpublic/about/intro.php/
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]
Bob’s story tells us of his relief when he eventually received a diagnosis. His struggle to cope with his symptoms related to mobility high-light how difficult it is without an explanation or an answer.
Bob’s story describes his daughter’s efforts to find out whether she too was affected. The importance of identifying individuals and family members who might benefit form information by genetics services is illustrated (NCG 1). The story also highlights the utility of genetic testing and information for family members and how it can relate to important decisions such as career choice (NCG 5).
Therapists and social care workers are also providing equipment and respite to enable Bob to manage his condition so that he may be as independent as possible. Recognising how a condition may present in an individual, that this may vary between individuals even within a family, and also how symptoms can be managed, is expressed in NCG 4.
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
Bob says ‘we are told that the average GP will only see three ataxia cases in their career so we can hardly expect them to be an authority on our complaint’. This raises the important point that whilst health professionals cannot be expected to be experts in all genetic conditions - many of which can be complex and uncommon - they must be aware of their own professional limitations, know where to seek specialist help and advice and be able to make appropriate referrals (GP-8a; GP-1g). Bob was worried about his daughter having inherited his condition. Although we are not given the exact details in his story, Bob was referred to genetics services, who were able to provide counselling and reassure him about his daughter (GP-1e).
Bob speaks highly of the care he has received for his condition. He is under the care of his GP, and also receives support from an occupational therapist in terms of aids and equipment and a social worker with regard to respite care. This provides a good example of how important a coordinated approach to care can be in benefitting those with a genetic condition (GP-1h).
Bob draws our attention to the importance carers often have. He says ‘I think people should give more thought and consideration to carers; they are mainly unappreciated and often unpaid – adding more anxiety to their task… they make life worth living for the disabled’. The role of carer is often carried out by family members or dependents, which in itself can sometimes have an impact on the relationship between the people involved. Bob also discusses how his condition has affected his working life and how he has had to adapt to this throughout this time, eventually having to retire early. These examples remind us of how a genetic condition can have a social and psychological impact on the patient and their families (GP-6b).
Bob recalls his own feelings on receiving a diagnosis for his condition – ‘my first reaction to my diagnosis was one of relief…….I had suspected something was wrong for some time, to find it was not cancer or MS was quite a big relief’. This gives us an insight into some of the emotions that can be experienced on receiving a genetic diagnosis and also reinforces how subjective these emotions can be (GP-8d).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.