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Ian’s story: A brief history of my life so far with ataxia telangiectasia

Living with ataxia telangiectasia, an autosomal recessive condition.

Ian has ataxia telangiectasia (A-T) and tells the story of how he dealt with his childhood. He has had much support from his family and has been able to enjoy a full life, being involved with many activities.

Toolkit

  • reflection Point for reflection

    1. Iantalks about how he has come to terms with his disability. What impact might the diagnosis and prognosis have on a child or young person?
    2. Imagine Ian’s parents ask you about the best way to talk to their son about this diagnosis. Would you be able to offer any guidance? What sources of support might be available to help them in this task?
    3. Ian’s mother’s concerns were not taken seriously because she was seen as an over-concerned mother following the death of her daughter. What lessons have you learnt from this story?
  • Activities Activities

    1. What clinical interventions are used to manage A-T?
    2. Having read his story, identify specific support that might be of benefit to Ian or similar patients.
  • quotes Quotes to reflect upon

    "... if other people do everything for you, you end up relying too much on them and not doing anything for yourself."

    "...he explained it to my parents and me and I had to accept it. It is something I have learned to live with, there is nothing anybody can do about it, and I just have to get on and live my life as best as I can."

    "Disability is something we are born with; it isn’t anyone’s fault, it is just one of life’s little challenges and we have to make the most of our lives with what we’ve been given. I have never really let my disability rule my life…"

    "I had a sister who died of a cot death at twelve weeks in 1958 and this led to people not listening to my mother when she was telling them about her concerns about me."

  • 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]

    Ian tells us that he has been diagnosed and wrongly diagnosed on three occasions. It is important that clients receive a correct diagnosis and in order to do so, it could be useful for doctors and nurses to seek assistance from genetic experts, where there is thought to be a suspected genetic condition (NCG 1).

    Ian tells us how his GP was not sure of the diagnosis of cerebral palsy and had his doubts. Whilst we do not know if he suspected a genetic condition, this could have provided him with an opportunity to reflect on the limits of his own knowledge (NCG 6) and refer to a genetic service, had such a service been available at that time.

  • 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

    Ian was diagnosed with Ataxia Telangiectasia in his twenties having being wrongly diagnosed on three previous occasions, once with cerebral palsy. Ian’s story does not tell us whether there was a history of this condition in his family, although as A-T is a recessively inherited condition and also very rare, it would be very unlikely that a family history would be present. However, even in the absence of a family history, it is important that patients suspected of having, or being at risk of, a genetic condition are identified (GP-1b) and referred to genetics services accordingly (GP-1g).

    His mother tried telling the health professionals about the loss of her younger daughter to cot death and as a result of this, Ian feels his mother's concerns about him were largely ignored. Receiving a genetic diagnosis in the family can sometimes raise sensitive and emotive issues from the past which can be difficult for family members to cope with and revisit, reminding us of what the emotional impact on the patient and family can be (GP-8d).

    A-T is a multi-system condition and as such, someone like Ian would need coordinated care (GP-4a). Ian talks about some of the practical help he has received in terms of carers, aids and equipment, providing us with a good example of how beneficial support services can be in terms of delivering effective and appropriate care (GP-1i).

  • 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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