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I tried not to give in to it

Siobhan’s experiences of living with the inflammatory condition ankylosing spondylitis and the multifactorial condition Type 2 diabetes.expert

In her story, Siobhan tells of her experiences of living with type 2 diabetes and also, a form of inflammatory arthritis called ankylosing spondylitis (AS). Siobhan explains how she was always aware of a family history of both conditions and describes how she was diagnosed, the interventions she has received and how she manages the conditions on a daily basis. She also discusses the implications for her sons.

Toolkit

  • reflection Point for reflection

    1. Siobhan says “as far back as I remember my family talked about the men on my dad’s side of the family having AS. My parents always worried that my brother would get AS, especially since my dad and granddad had it and my great granddad….my mum used to worry that I would get diabetes because many females on her side of the family had it….They told me I had AS. I was totally surprised because I didn’t think it affected women”.
      Siobhan’s story reminds us that lay beliefs about inheritance can be strong. Reflect on your experiences as a healthcare professional. Have you encountered a situation where an individual or family have held strong lay beliefs about inheritance? How did you deal with this? Consider what you might be able to do to support an individual or family in this situation.
    2. Re-read Siobhan’s story and reflect on the different ways in which having a genetic condition (or conditions) can impact on an individual and their family. Think about the some of the social and psychological consequences that having, or being at risk of, a genetic condition can have.
    3. Siobhan describes how she was shocked to receive a positive test result for type-two diabetes as “nobody had explained to me what the tests were for and I was feeling too poorly to ask”. Reflect on your experiences as a healthcare professional. Have you encountered a situation where an individual was unaware of the reason for a clinical test and was shocked on receiving the results? How did you deal with the situation? Consider what Siobhan’s doctor might have done to ensure she was fully informed of the purpose of the test.
  • Activities Activities

    1. Both AS and type-2 diabetes are multifactorial conditions. Multifactorial (or complex) conditions are caused by many contributing factors, such as the effects of multiple genes in combination with lifestyle and environmental factors.
      1. Use the following resources to find out more about complex or multifactorial inheritance:
        • Factsheet on environmental and genetic interactions – Complex Patterns of Inheritance.
        • Nature Education journal article.
        • Genetics Home Reference website.
        • If you are planning a teaching session on multifactorial inheritance, the NHS National Genetics Education and Development Centre has a series of PowerPoint slides on this subject.
      2. How AS is caused is not yet fully understood, but current evidence suggests that multiple genetic and environmental factors are likely to play a part in determining the risk of developing the condition. Use the following resources to find out more about the role of genetic factors in AS:
        • The NASS website has a basic overview of the role of genetics in AS and has a link to a recent newsletter article on the subject, as does the Genetics Home Reference website, while the journal article ‘Genetics and genomics of ankylosing spondylitis’ provides a more detailed review.
    2. Using some of the resources signposted in Siobhan’s story, find out what the main clinical signs and features of AS are.
    3. In her story Siobhan says “I started to feel very, very tired and kept getting up in the night needing to have a wee. Then I became afflicted with boils and eventually went to the doctor who took some blood and urine samples and, when I went back, said to me ‘as I suspected, you have type-two diabetes’.
      1. Using the resources signposted in this story, describe the main clinical signs and features of type 2 diabetes.
      2. Devise a management plan for someone diagnosed with type-two diabetes. You may find some useful information on the NHS Map of Medicine, the NHS Clinical Knowledge Summary and the NHS National Institute for Health and Clinical Excellence (NICE) websites.
      3. Work through the NHS National Genetics Education and Development Centre’s reference guide on ‘Genetics and common forms of diabetes’.
      4. To find out more about other, less common forms of diabetes including Maturity Onset Diabetes in the Young and neonatal diabetes mellitus, work through the NHS National Genetics Education and Development Centre’s reference guide on ‘Genetics and rare forms of diabetes’.
      5. As a dietitian how might you be able to support someone who has been referred to you having been diagnosed with type-two diabetes? The diabetes UK website has a webpage for healthcare professionals with diabetes interests and expertise which contains some useful information. The NHS National Genetics Education and Development Center also has a dietetics reference guide on genetics and obesity which might contain some helpful information.
      6. f. Siobhan mentions that she had gestational diabetes during her second pregnancy. Use the resources signposted below to find out more about gestational diabetes:
        • NHS Choices website (which also has a video from a Diabetes UK care adviser explaining how gestational diabetes affects pregnant women).
        • NHS Map of Medicine – Diabetes in pregnancy
        • Diabetes UK website.
    4. Siobhan explains that the symptoms and degree of severity of AS have varied within her family:
      • A condition which exhibits a variable pattern of disease expression, meaning that the clinical features of the condition can vary between different affected individuals even within the same family, is said to exhibit variable expressivity.
      • She also goes on to say “We have looked at a lot of information sheets about AS and they [Siobhan’s two sons] know that even if they did have the gene they might not develop it”:
      • Some genetic conditions exhibit reduced or incomplete penetrance, meaning that some people who have a gene change (mutation) for a particular condition, do not develop features of the disorder.
      • The Genetics Home Reference website provides further information on variable expressivity and reduced penetrance and the PHG Foundation has an interactive tutorial on these subjects.
  • quotes Quotes to reflect upon

    “As far back as I remember my family talked about the men on my dad’s side of the family having ankylosing spondylitis. My parents always worried that my brother would get AS, especially since my dad and granddad had it and my great granddad was known to complain about his ‘bamboo spine’...my mum used to worry that I would get diabetes because many females on her side of the family had it”.

    “I had treatment for the iritis and went for the x-ray results from Rheumatology where they me I had AS. I was totally surprised because I didn’t think it affected women”.

    “There was an AS consultant who was absolutely fantastic. My test results confirmed my AS was active and she prescribed a whole regime of drugs for pain relief….they also tested me and my brother for the HLA-B27 gene and confirmed we both had it”.

    “I started to feel very, very tired and kept getting up in the night needing to have a wee. Then I became afflicted with boils and eventually went to the doctor who took some blood and urine samples and, when I went back, said to me ‘as I suspected, you have type two diabetes’ – which was a TOTAL shock as nobody had explained to me what the tests were for and I was feeling too poorly to ask”.

    “I read somewhere that 9/10 cases of type 2 diabetes develop because of lifestyle. I am overweight and don’t exercise much so this might be true in my case however as well as the type 1 that my grandmother and all her siblings had, there were no cases of diabetes in my mother’s generation of the family but 12 out of 14 of my cousins have developed type two. Some are couch potatoes and some are athletes, some smoke, eat and drink too much. Others are slim and careful about their lifestyle. So I am confused about this”.

    “Both my sons have seen me deteriorate, improve, go downhill again over the years but neither of them wants to be tested for the gene….they know that even if they did have the gene they might not develop it. They are 21 and 22 now so still within the age range where it usually develops. Also if they do develop AS then they would hope to get anti TNF early on to stop it spreading like it has with my brother and me. The diabetes is another factor and one of them is much more bothered about this so they both exercise regularly, eat and drink sensibly and don’t smoke. I just hope this means they won’t develop type two in later life”.

  • 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]

    Siobhan is knowledgeable about the history of AS and type-two diabetes in her family, reminding healthcare professionals of the importance of using the information available about an individual’s family history in assessing predisposition to a condition. Recognising the clinical indicators of AS and diabetes were important factors in Siobhan being diagnosed and receiving the appropriate intervention (NCG 1).

    Siobhan was surprised to hear she had been tested for, and diagnosed with, type-two diabetes as she had not been told what the tests were for. By explaining the purpose of the tests, the doctor could have ensured that Siobhan was fully informed and better prepared for the results (NCG 3).

    Siobhan says “I got referred and there was an AS consultant who was absolutely fantastic. My test results confirmed my AS was active and she prescribed a whole regime of drugs…They also tested me and my brother for the HLA-B27 gene and confirmed we both had it”. The consultant demonstrated a knowledge and understanding of the role of genetic factors in health in order to unpin effective practice (NCG 4).

    Siobhan is clearly well informed about her conditions and describes how they have been managed over time. Her story highlights the need to provide ongoing care to those with enduring healthcare needs, and also the importance of recognising that these needs might change with time. It is also important for healthcare professionals to acknowledge the expertise that individuals such as Siobhan acquire over time and with experience (NCG 8).

  • 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

    Siobhan describes how her GPs have played a key role in coordinating her care, for example by ensuring she has had ongoing diabetes support and by referring her to the appropriate opthalmology and rheumatology specialists for her AS (GP-1h; GP-4a). In doing this, her GPs have recognised their own professional limitation with regard to managing genetic conditions, and known where to obtain expert help (GP-8a).

    Siobhan sees a diabetes nurse and the “regular diabetes support” that she has received is a good example of providing a comprehensive approach to healthcare, ensuring that systems are in place to monitor those individuals who have chosen to undergo regular surveillance (GP-4b).

    Siobhan explains how the AS has affected her own lifestyle and that of her brother and also describes the potential implications for her sons. Her story reminds us of some of the social and psychological implications that having a genetic condition can have on an individual and their family (GP-6b).

    Of her sons, Siobhan says “Both…have seen me deteriorate, improve, go downhill again over the years but neither of them wants to be tested for the gene….The diabetes is another factor and one of them is much more bothered about this so they both exercise regularly, eat and drink sensibly and don’t smoke”. This highlights the need for health professionals to be aware of the ethical aspects of managing families with genetic conditions, such as the different views towards genetic information and testing that individuals may have (GP-8b).

  • cogs Learning Outcomes for Medical Students

    We have linked this story to the learning outcomes in genetics for medical students based on curriculum statements developed in 1990 and 1996 and published in ‘Teaching Medical Genetics to Undergraduate Medical Students’ (British Society for Human Genetics/Joint Committee on Medical Genetics, 2003; www.bshg.org.uk/documents/official_docs/Undergrad.doc).

    In having a comprehensive understanding of the role of genetic and genomics in heath and disease, it is important for medical students to be aware of the contribution that both genetic and environmental factors can have in multifactorial conditions such as type-two diabetes and AS (MS 2).

    Siobhan describes her family’s history of AS, explaining how the condition has affected members of her family in different ways and how, having the HLA-B27 gene change (or mutation) doesn’t mean that someone will then go on to develop AS. These points not only help to highlight the importance of being able to take a family history and identify those with, or at risk of, a genetic condition, but also of understanding the clinical implications of genetic concepts such as variable expressivity and incomplete penetrance (MS 3).

    Following referral to an AS consultant, Siobhan and her brother were tested and found to have a HLA-B27 gene change, demonstrating the importance of understanding the uses of genetic testing and interpretation of results (MS 5).

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