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Gary’s story of living with chronic granulomatous disorder

A recessive X-linked condition that affects his immune system.

Gary shares his story of living with chronic granulomatous disorder (CGD) and the many difficulties he has faced with his physical health. Every time, he has been able to successfully overcome them, due to the support from healthcare professionals and his family. Gary’s story emphasises that despite having a genetic condition, his ambitions remain the same, as he is determined to not let anything get in his way.

Toolkit

  • reflection Point for reflection

    1. Gary describes himself as an “expert patient”, who is able to assess and manage his pain levels. How could these be managed?
    2. Look at the Expert Patient Programme – how useful could this be for your patients?
  • Activities Activities

    1. How would you manage CGD?
    2. Consider the different types of blood transfusions and discuss their effectiveness, looking at the pros and cons of this treatment
  • quotes Quotes to reflect upon

    “I have to remain a positive person despite what I have been through; sometimes it has felt like I have been in prison when I have come out of hospital after illness.”

    “I have never let CGD stop me from doing anything from jobs to going travelling. I always try to remain positive as this helps greatly especially through long bouts in hospital.”

    “My message for anyone with a chronic disorder is try not to let it stop you doing anything and live life to the full.”

  • 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]

    Gary is aware of the medical regimen that he needs to maintain every day because his immune system does not work effectively. Knowledge of his condition and the environmental risk factors that can impact his health (NCG 4) are crucial for anyone involved in managing his condition. For example, the requirement for Gary to stay in a room on his own, in order to minimise any risk of infection.

    Gary says that he has had to “..remain a positive person despite what I have been through..”. Living with a genetic condition not only impacts the individual psychologically but also parents and other family members (NCG 5), who support the individual whilst they have periods of ill health. In Gary’s case, the support he gets from them is invaluable and helps him deal with his condition.

  • 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

    Gary’s condition is X-linked. His mother is a carrier but his brother and uncle are unaffected. GPs should be able to take and interpret a family history for someone like Gary and be familiar with basic inheritance patterns such as X-linked inheritance (GP-3b).

    The support Gary and his family have received from the CGD Research Trust has been invaluable, particularly the help from the CGD specialist nurse. This is a very positive example of how being given access to a support service can greatly benefit the families of those affected by a genetic condition both practically and emotionally (GP-1i).

    In his story, Gary mentions several different episodes of illness or infection affecting different clinical systems such as different types of respiratory infections and a liver infection. GPs need to be aware that complex conditions such as Gary’s are often multi-system conditions and are likely to involve liaison with multiple health professionals - for example, Gary’s CGD specialist nurse (GP-4a), and should also be involved in the coordination of such care to ensure comprehensive patient management (GP-1h).

    Gary acknowledges how his family and friends have been a tremendous support to him and says that his genetic condition has been ‘very hard for them at times’ illustrating how genetic information can impact not only on the patient but also on those close to them (GP-2c).

  • 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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