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Ann’s story – a health professional working with families affected by muscular dystrophy

Specialist practice that includes Duchenne muscular dystrophy (X-linked) and myotonic dystrophy (autosomal dominant).video

Ann is working as a medical doctor supporting families who are affected by muscular dystrophy. This is an umbrella term for a number of conditions involving deterioration of muscle and she mentions two specific types: Duchenne and Myotonic Dystrophy. Ann makes several important points for health professionals: take a careful family history, listen to patients and ask if you do not know about the condition. Ann’s story also brings to life the pain of bereavement and the stress on families who live with the condition.


  • reflection Point for reflection

    Ann makes the point that although genetic prenatal testing may be seen as an answer to the risk of having a child with a serious condition, this step in itself may create pressure and bring grief to the family. One of the families known to Ann had to endure several terminations before having an unaffected child.

  • Activities Activities

    1. Imagine that you are a nurse caring for a woman having her third termination of pregnancy because the fetus has been diagnosed with a genetic condition. She asks you if you think she should try again to have a baby. How will you respond? Discuss with a colleague.
    2. Imagine you work in a primary care practice. A man in your practice has Duchenne muscular dystrophy. His brother (a healthy 24 year old) comes to you very concerned about having a child with this condition. What action will you take? Use the reference material to find out what the risk to his children might be.
    3. Ann speaks of the lack of space in the curriculum for more genetics. Imagine you are teaching pre-registration students in your own profession. In what areas of the curriculum could you help students to develop competence in supporting families who have a member with myotonic dystrophy?
  • quotes Quotes to reflect upon

    "Well I think there’s a lot of interest in genetics. There’s a lot of interest in discovering what the genetic causes of the diseases are but I’m not quite sure we have really kind of taken the next step which is doing something about the knowledge. It’s all very well being told what the diagnosis is but then you have to sometimes fight for the types of services and one of the main problems I think about a lot of genetic conditions is that they are affecting more than one part of your body. They affect different systems."

    "It’s quite difficult sometimes getting all the information about the family…it’s very important to establish what diagnoses they are thinking about when you are drawing the family tree…the family may be coming along with a perception in their mind about one particular condition so they will dismiss other things that may be relevant. So they may, again if you think about myotonic dystrophy where there’s an increased risk of sudden deaths from cardiac problems or anaesthetic complications, then patients may dismiss the fact that they had a relative that died with one of these things but it may be very important and it may change the risks in a family."

    "You may be talking about deaths, babies being still-born, multiple miscarriages and that can be really quite difficult for people to talk about sometimes and get them very upset. And the fact that there have been multiple losses sometimes in a family, gives them some complex bereavement issues and you have to deal with those when you face them when you open up that can of worms."

    "...people say well you can have these tests, but they are not easy. They are very, very difficult for families to cope with. And sometimes it is so difficult that these young ladies won’t even tell their mothers because it is just too difficult for them to discuss with the family that they don’t want to open the wounds for their mother and to go through these really difficult things like terminations by themselves. And waiting for that result from an amniocentesis or a chorionic sample for some couples can be just really tremendous pressure so that they almost don’t talk to each other while they are waiting for the results which can take 2 or 3 weeks to come through."

    "I think it’s important for those who are learning particularly about nursing is that you can never ever know about everything, and what’s probably the important thing is to see people, find somebody who does know about it. And don’t just assume that this patient has made up the name of his condition. They probably do know what they are talking about because I get very, very angry when patients come and say ‘they kept telling me that they knew all about my condition. That they knew all about multiple sclerosis and I kept telling them, no, I’ve got muscular dystrophy’. So listen to the patient. Look at the patient. See how the patients cope and modify your behaviour accordingly."

  • Further Information Further Information

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]

    Developing an understanding of the breadth of physical, mental and social challenges faced by families with serious genetic conditions is fundamental to practice. Ann demonstrates how further development of this knowledge underpins specialist practice (NCG 4).

    One issue that Ann highlights is the need for the health professional to be aware of the limitations of his or her knowledge and skill and willingness to ask others for information (NCG 6).

    Ann is frustrated by the responses of some health professionals who are not using current information. Seeking credible and current information for the patient and for colleagues about genetic conditions is encompassed in NCG 7.

  • 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:

    Ann’s role includes discussing different types of genetic testing such as carrier testing, and also pre-natal testing. In providing a comprehensive approach to primary care, GPs should not only understand the different uses of genetic tests and their limitations (GP-3e), but also be able to appreciate some of the issues surrounding genetic testing and the different views towards genetic information that patients and families may have (GP-8b).

    She describes some of the reproductive choices that her patients often face, such as carrier testing, prenatal testing and termination of pregnancy. In helping an individual or family deal with such situations, it would be helpful for GPs to be knowledgeable about the reproductive options available to those with a known genetic condition (GP-4d) and be able to communicate such information in an understandable and comprehensible way (GP-2b) and in a non-directive and non-judgemental manner (GP-8c).

    Ann describes how, in her experience, patients ‘like to see somebody who has knowledge of the condition’ and she highlights the need to improve knowledge and education about muscular dystrophy. Although, as Ann points out, the curriculum for most health professionals is already often overcrowded, it is important for GPs to be aware that genetics is a rapidly evolving field and to keep up-to-date with clinical advances (GP-9). Ann comments, health professionals ‘can never ever know about everything and what’s probably the important thing is to see people, find somebody who does know’. This reminds us that GPs should be able to demonstrate an awareness of their professional limits in regard to managing genetic conditions such as muscular dystrophy, and know where to obtain specialist help and advice when needed (GP-8a).

    Ann comments that, in a clinical context, many genetic conditions affect different systems and emphasises the need for a holistic approach to the patient - she gives the example that somebody with myotonic dystrophy would not only have muscle weakness, but might also have increased risk of getting diabetes, heart problems or cataracts. This is a good example of a multi-system disorder and GPs should be able to liaise with, and co-ordinate care with other relevant health professionals in order to provide comprehensive and effective management and care for the patient (GP-4a; GP-1h).

    Ann describes some of the social and psychological issues and pressures that having a condition such as muscular dystrophy can have on the patient and their family such as strain on family relationships, coping with genetic testing and guilt surrounding reproductive choices. In such circumstances, families might benefit from a GP who has an appreciation of the emotional impact a genetic diagnosis might have on them (GP-8d), and is able to provide information on available support services to help them cope (GP-1i).

    Ann talks about the importance of obtaining an accurate family history and comments ‘where we haven’t got a diagnosis, we haven’t got an easily available gene test, then family history may make or break the diagnosis or inheritance pattern’. She emphasises the need for ‘getting all the right information about the family’ and talks about some of the challenges surrounding this when discussing potentially very sensitive issues with families. GPs should know how to take and interpret a family history and possess knowledge of relevant questions and basic inheritance patterns (GP-3b). They should be able to use this information to identify patients with, or at risk of a genetic condition (GP-1c), in order to deliver effective primary care management and make appropriate referrals to genetic services (GP-1g).

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