The presentation of 22q11.2 deletion syndrome (22q11DS) is symptomatically variable, presenting diagnostic challenges for paediatricians and anxious uncertainty in parents. The ‘lived’ experience of parenting a small child diagnosed with 22q11DS is unknown particularly how parents make sense, both positive and negative, of their role. A phenomenological study sought subjective interpretations from two fathers and four mothers of a young child (8–36 months) diagnosed with 22q11DS. Using interpretative phenomenological analysis, data were collected through semi-structured interviews and thematically analysed. Four themes embodied uncertainty and fear simultaneously experienced by these parents such as anticipatory traumatic distress, systemic stigma, confusion at professional smoke screens and ‘not knowing’. This cacophony of distressing emotions plagued their unanswered fear, guilt, loss and grief. In seeking hope, their parenting journey was able to be redefined as one of intrapersonal and interpersonal growth from the adversity of 22q11DS. This study provides a lens into the experiences of parents struggling to make sense of their journey with 22q11DS in the early parenting years. It highlights the complex distress of parenting a small child whose development is fraught with uncertainly and where stigma and suspicion are often experienced when seeking support from social and health systems. However, a metamorphosis of personal strengths also emerged facilitated by hope. Healthcare professionals can best assist through open discussion that acknowledges often limited knowledge, using the guidelines for management of 22q11DS in guiding parents.
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The authors would like to thank the participants for their generous contribution to this research project.
No funding was required or given for this study.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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Goodwin, J., McCormack, L. & Campbell, L.E. Positive and Negative Experiences of Parenting a Pre-school Child with 22q11.2 Deletion Syndrome. Adv Neurodev Disord 1, 63–72 (2017). https://doi.org/10.1007/s41252-017-0010-z
- Velo-cardio-facial syndrome
- Anticipatory trauma
- Psychological growth