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Living with facioscapulohumeral muscular dystrophy

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.


How does this story relate to professional practice?

  • cogs Nursing Competencies

    [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.

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs 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:

    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).

  • cogs Learning Outcomes for Medical Students

    Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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