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At last we had a name: Philippa’s story

A mother’s account of her son’s chronic granulomatous disorder - an X-linked condition.

Philippa tells the story of how her son was diagnosed with chronic granulomatous disorder and what life has been like for her and her son living with his condition.

Toolkit

  • reflection Point for reflection

    Being able to provide a name for a genetic condition can be a huge relief to individuals and families. In several of the stories on this website, you will come across parents of affected children who speak of their relief at being given a diagnosis. As Philippa explains, once the family had received a diagnosis and the relevant information, they felt they could move forward.

    1. Think about whether you can recall any instances you might have encountered in your professional practice when receiving a diagnosis has helped a patient and their family to move forward.
    2. Consider what support you might be able to offer to clients and their families during the uncertainty of the diagnostic process.
    3. If a diagnosis has been confirmed, think about how you might be able to support a family with regard to informing other, non-immediate, family members.
  • Activities Activities

    1. In this story, a young boy is brought into hospital for tests to see if he has a cancerous growth in his chest. The tests have come back negative, ruling out Non-Hodgkin’s lymphoma as the cause of the growth. Imagine you are the staff member in charge of this case. How would you determine the next step? What sources of information and advice would you consult?
    2. 2.The mother describes the chances of this condition occurring as being "one in a million" as an indication of its rarity. The CGD Research Trust and Support Group list the incidence level as 1:250,000. Philippa was tested and found to be a carrier for X-linked CGD, which is inherited in an X-linked recessive manner. If a carrier female such as Philippa and an unaffected male decide to have a child, there would be a 50% chance of any male children being affected by the condition, and a 50% chance of any female children being carriers of the condition.
      1. Imagine that you are involved in a consultation with a couple who have one affected child. How would you explain the risk of having another affected child?
      2. Philippa doesn’t say if her twin sister is an identical twin. If not, what are the chances that her sister might also have inherited the altered gene?
  • quotes Quotes to reflect upon

    "at last we had a name and information on this rare condition and we could move forward to dealing with it."

    "We are so grateful to all the consultants, surgeons, nurses, play specialists, who put their motto: 'he child first and foremost' to great affect."

  • 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]

    This mother describes how she took her son through a battery of tests in a host of different hospital departments before an immunology consultant recognised a potential genetic condition. A blood test confirmed the diagnosis of chronic granulomatous disorder. It was the consultant’s ability to ‘Identify clients who might benefit from genetic services and information’ (NCG 1) that finally gave rise to the true diagnosis of this condition.

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs Learning Outcomes for GPs

    Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.

  • 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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