Ben’s story of his struggle to obtain a diagnosis
A gentleman describes the difficulties he has encountered throughout his life due to not receiving a diagnosis.
Point for reflection
Today, more people than ever receive a diagnosis, but there are still many people who do not have a timely or accurate diagnosis and are battling through life without this. Consider how this may have an impact on an individual’s life and that of their family also.
- Ben has now received a diagnosis and is also attends an annual management clinic with a neurologist.Read up on FSH muscular dystrophy. List the different healthcare professionals required to deliver on aspects of care for Ben’s condition. What should the specialist nurse’s role be in his care?
- Delays in finding a diagnosis for Ben’s condition - and therefore of providing a prognosis, ultimately has had a significant impact. It seems that he had no independent advice as an employee about the best course of action with regard to terminating his employment. How would this situation be handled now? How would you deal with this as Ben’s GP or occupational health nurse?
Quotes to reflect upon
"With regards to the experience of care from the NHS, I suppose the negative one was not getting a diagnosis much earlier in my life. On a more positive level, I now see a neurologist once a year, which in turn has led to obtaining help from social services e.g., bath lift, stools with handles, wheelchair and ramps etc"
- Information on muscular dystrophy from NHS Choices (http://www.nhs.uk/Conditions/Muscular-dystrophy/Pages/Introduction.aspx) including causes, symptoms, diagnosis, risks and treatment and with links to other useful resources. The NHS Choices website also provides information on financial benefit entitlement and legal guidance (http://www.nhs.uk/CarersDirect/moneyandlegal/Pages/Moneyandlegalhome.aspx).
- National Genetics Education and Development Centre - muscular dystrophy - http://www.geneticseducation.nhs.uk/learning-genetics/common-genetic-conditions/muscular-dystrophy.aspx
- The Muscular Dystrophy campaign (http://www.muscular-dystrophy.org/how_we_help_you/care_and_support?gclid=CNL5n6GA0Z0CFZoU4wodW2zFrw#) provides expert information to anyone affected by muscle disease. The website also has number of care publications (http://www.muscular-dystrophy.org/how_we_help_you/care_publications) for patients, families and health professionals, and also provides advice on how to apply for financial grants towards equipment and technology - http://www.muscular-dystrophy.org/how_we_help_you/equipment_grants
- US National Library of Medicine, Genetics Home Reference - facioscapulohumeral muscular dystrophy - http://ghr.nlm.nih.gov/condition=facioscapulohumeralmusculardystrophy
- National Institute of Health GeneReviews - facioscapulohumeral muscular dystrophy - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fsh
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]
Ben’s story highlights the difficulty he has encountered throughout his life due to not having a diagnosis for his condition and in managing his symptoms. This illustrates the vital importance for an individual to receive an accurate diagnosis for their condition and accurate information on their genetic condition (NCG 1).
This also reminds us of the importance of recognising that a confirmed diagnosis of a genetic condition can help in giving knowledge and understanding to correctly manage the symptoms and support good health (NCG 4). In addition this has further implications in assisting people in getting appropriate support in their workplace and at home.
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
Throughout his long medical history and despite many consultations with various specialists including neurologists, none of the healthcare professionals that Ben encountered suspected that he might have a form of muscular dystrophy. It is important that healthcare professionals should always be open to the possibility of a genetic diagnosis even if there is no family history, as in Ben’s case (GP-1b).
Ben describes the impact his condition has had on his career, culminating in him having to end his working life prematurely, and also on his home life, affecting his ability to care for his mother. His story highlights clearly the impact that a genetic condition can have on an individual, their family, dependents and employers (GP-6b).
Following his diagnosis, Ben now receives a more coordinated approach to his care, seeing a neurologist regularly and also obtaining assistance from social services (GP-1h).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.