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Helen’s story - Long QT syndrome

An autosomal dominant condition leads to the sudden death of a teenage son.videoexpert

Helen describes the shattering blow to her family that occurred when her 19 year old son died suddenly, due to a genetic cardiac condition that had previously been undiagnosed. A feature of Helen’s story is her relentless quest to find out what caused her sons’ death so that she could help prevent others in the family from dying the same way. It is striking how Helen’s life changes as she finds peace of mind once the diagnosis is confirmed. However, she did not feel well-supported by health professionals as she tried to discover the diagnosis in order to try to prevent the same scenario happening with other family members.

Toolkit

  • reflection Point for reflection

    Helen finds it impossible to accept that her son’s death is just ‘one of those things’ and questions what she has been told. Health professionals may feel uncomfortable when unable to provide all the answers and it is possible that health professionals caring for Helen’s family felt it was difficult to be unable to answer her questions. In fact, Helen finds those who are honest most helpful. Is there ever a situation where a health professional should not be honest? 

  • Activities Activities

    1. Helen continues to search for the diagnosis within her family long after the death of her son. How might you have felt if you were a nurse working in her practice? How could you have supported her emotionally?
    2. Blood and tissue samples were taken for genetic testing, but Helen did not receive the results of the tests as she expected. What is your responsibility as a health professional if you arrange a genetic test? If there are no definitive results, how could you handle this in terms of informing the family?
    3. Assuming that the family members who died suddenly all had long QT, and using the standard pedigree symbols, draw a diagram to depict the family tree over 4 generations based on the information in the story.
      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.
  • quotes Quotes to reflect upon

    "Yes it was a quest actually. First off, completely computer illiterate, bought a computer, got myself on the Internet. We discovered Long QT purely by accident. My husband went to the doctor’s surgery for something totally unrelated and actually read about the condition in a magazine and as soon as we read about it, it set alarm bells ringing."

    "...they thought I was never going to find an answer as to why my son had died but I was determined that it wasn’t going to happen again, that it would be years and years of research myself and writing and e-mailing people across the world is how I got into it."

    "...there were quite a few people had died in my husband’s family, very suddenly with no prior illness and no explanation…an aunt died, his mother died young, his cousin collapsed and died very young but nobody ever questioned it. Also my husband had three children from his first marriage. It was 10 years before we lost our son and the middle daughter from the previous marriage died in almost the same way…so to me it was something that had to be investigated and found."

    "For goodness sake, listen to your patients. Listen to people. I was so often dismissed as being a neurotic mother and I’m not a neurotic mother. I am just an ordinary woman who loves her children. I love my children and I love my husband and I didn’t want it happening again and that’s the reason I am doing this now because I would like people to realise that Mums know things and we’ve got this empathy with our children and nobody can tell you that your healthy son has collapsed and died, but there’s nothing wrong, which is basically what they tried to tell me. ‘It’s just one of those things’ and I wasn’t prepared to accept that."

  • 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 family had a strong family history of sudden death that could have been investigated in connection with the son’s fainting and attacks of dizziness. Part of the skill required of the health professional is the ability to be open to connection of seemingly unconnected events, especially when these appear as a series of unusual coincidences (NCG 4).

    Tissue from Helen’s son and blood samples from other family members were used to try to detect a genetic mutation. By developing an understanding of the limitations and uses of genetic testing (NCG 5) the health professional can support an individual or family considering genetic testing.

  • 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

    Helen’s family had a past history of sudden deaths in the family. Her son also had a history of fainting and dizziness about which he consulted his GP and was told it was due to ‘growing pains’. Even though the family were aware of the medical history, they did not suspect a genetic condition. In situations such as this, it is particularly important for GPs to know how to take a family history (GP-3b) and use this information and their knowledge of inheritance patterns to identify those patients in the practice population with, or at risk of, a genetic condition (GP-1c).

    If a genetic condition is suspected or has been identified in a family, a GP should know where to obtain specialist help and advice for the patient and their family (GP-1e). Helen’s family did eventually see a geneticist on one occasion two years after her son’s death. They would have benefited greatly from being referred much earlier to a genetics service for advice and also to discuss the availability of genetic testing (GP-1g).

    The family not only had to contend with the sudden death of their son but then had to fight for a diagnosis and try obtain as much information about the condition themselves. Their GP might have been able to help the family by recommending avenues of support such as BHF and SADS from which they could have received help and advice (GP-1i).

    GPs should be aware of how to assess genetic risk for families such as Helen’s and, using the on-line risk assessment tools as they become available, provide risk estimates for family members of patients with Mendelian diseases such as Long QT syndrome (GP-3d).

  • 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).

    The family had a strong history of sudden death that could have been investigated in connection with the son’s fainting and attacks of dizziness. Helen’s story highlights the importance of being able take and interpret a family history, and of recognising clinical signs and symptoms which might be associated with an underlying genetic condition (MS3).

    Helen talks about the various tests, including genetic tests, her family members have gone through after her son’s death. As a medical student, it is important to be aware of the uses and limitations of genetic testing (MS5) and be able to communicate genetic information to patients and their families in an understandable manner (MS4).

    Helen says “we saw one geneticist on one occasion and that would be probably two years after our son died”. The family might have benefitted from an earlier referral to genetics services for specialist help and information (MS6).

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