Parents experiences of having an asymptomatic child diagnosed with hypertrophic cardiomyopathy through family-screening

  • Ewa-Lena Bratt, Sahlgrenska Academy, Institute of Clinical Sciences, Department of Pediatrics, University of Gothenburg., Sweden
  • Prof Ingegerd Östman-Smith, Sahlgrenska Academy, Institute of Clinical Sciences, Department of Pediatrics, University of Gothenburg., Sweden
  • PhD RN Åsa Axelsson, Sahlgrenska Academy, Institute of Health and Care Sciences, University of Gothenburg., Sweden

    • Background
    Hypertrophic Cardiomyopathy (HCM) is an inherited cardiac disease with a prevalence of 1:500. Children with a parent diagnosed with HCM have a 50% risk of inheriting the mutation. HCM is the commonest medical cause of sudden death in the age 8-16 years and may have implications for the psychosocial well-being of the child, as well as for the family. A HCM-diagnosis may cause fear and anxiety, because of the risk of complications, and due to lifestyle-modifications the patient is advised to make. These restrictions in sports-participation may bring profound changes to the affected individual’s lifestyle and impacts the whole family.

    Aim
    To describe parents´ experiences of how the diagnosis affects everyday family-life.

    Method
    12 parents with asymptomatic children diagnosed with HCM through family-screening, were interviewed 12-24 months after diagnosis. Analysis was conducted with qualitative content-analysis.

    Results
    The analysis resulted in two themes and six sub-themes. The parents struggled for normalization of life as the diagnosis was followed by lifestyle-modifications which they too had to adapt to.

    1.A drastic change of life:
    -Death as a reality
    -Loss of freedom of choice
    -Faith in the future

    2.A strive for normalization of life:
    -To feel secure
    -To protect without circumscribing
    -To adapt to a new life

    Conclusion
    Diagnosis of asymptomatic children affects the parents who strive to protect their child without circumscribing their life too much, and to achieve a new state of normality. The main changes perceived were ascribed to lifestyle modifications and the awareness of the vulnerability of life.