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Family life with Tuberous Sclerosis: Mark’s story

A complex condition with autosomal dominant inheritance.video

Mark is a father of two. Both his children have TS and are severely affected. They inherited TS from Karen, Mark’s wife. Here, Mark tells us of his family life and the impact TS has had on his life. Mark’s wife, Karen tells her story in 030.

Toolkit

  • reflection Point for reflection

    1. Read Karen’s story (030) too. Their stories show such a huge impact Tuberous Sclerosis has had on their lives as individuals, a couple and as a family. If a family in your care were in a similar situation and had just learned about a similar condition, how would you help them manage with all of the information?
    2. Why do you think some people may want as much information as possible, while others may feel they are ‘bombarded’.
  • Activities Activities

    How would you help a patient or family member to make sure they are comfortable with the amount of information they are receiving?

    Tuberous sclerosis is inherited in an autosomal dominant pattern. Using the information provided by Mark and Karen and standard symbols, draw their family tree, indicating who is affected with tuberous sclerosis.

    1. What are the features you would expect to observe in such a family tree that illustrates an autosomal dominant inheritance pattern?
    2. How does this story illustrate some of the characteristic of a dominantly inherited genetic condition?

    For further information on taking a family history and drawing a family tree see Gaff CL (2005) Identifying clients who might benefit from genetic services and information. Nursing Standard. 20, 1, 49-53.

    Design a one page information leaflet about tuberous sclerosis for a junior colleague. Include the key facts and where they can go for further information.

  • quotes Quotes to reflect upon

    "...when it’s your children it’s really rather different."

    "People will tell you things and often its like - ‘Do I really need to know what they are telling me now because I’m not really fully understanding it, and if I don’t really need to know what they are telling me, you might as well stop because it's not going in anyway."

  • 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]

    Mark talks about the complexities of his children’s conditions and how he has received so much information – too much for him. He struggles to deal and manage with all of this. This is important to gauge and monitor the amount and level of information – that it is appropriate, for whatever reason and is helpful to the client to deal with the issues under discussion / consideration (NCG 2).

  • 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: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf

    Mark discusses the fact that although the frequency of TS is estimated at around 1 in 8000, there may be other undiagnosed affected individuals with symptoms such as epilepsy or learning disabilities that could be attributable to TS, which highlights the importance of being aware of the heterogeneity in genetic conditions (GP-3d). Mark talks about the complexities of his son’s TS and it can be seen from the way in which TS has manifest itself in James that such conditions can often be multi-system disorders, sometimes requiring a coordinated management regime involving several specialist heath professionals (GP-4a). He raises the important point that whilst his family have received a diagnosis, it is not always possible to determine the cause of a condition, such as learning disability, that may be genetic in origin (GP-6c).

    Mark talks about the need to tailor genetic information to the client’s needs and knowledge. From his own experience, he felt that sometimes he was given too much information that he didn’t fully understand or really need to know. He says ‘the things we really need to know are what will have an impact, what you can do about it, how to avoid the situation’. This reminds us that genetic information, which is often complex, needs to be communicated in a clear and understandable way by health practitioners in order for patients and their families to be able to understand what it means and what the consequences might be and make informed choices about their care and management (GP-2b).

    The identification of an anomaly during Mark’s sister-in-law’s antenatal screening (GP-3c), and subsequent diagnosis of TS, had immediate implications for Mark’s wife Karen (GP-7c) who was also pregnant at the time. Following James’ diagnosis of TS, the GP might also have a role in supporting Mark and Karen’ in making further reproductive choices (GP-4d).

  • 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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