Living without a diagnosis: the parental experience

Genet Test Mol Biomarkers. 2010 Dec;14(6):807-15. doi: 10.1089/gtmb.2010.0061. Epub 2010 Oct 12.


Aim: the aim of this study was to explore the parental experiences of raising a child without a diagnosis.

Method: qualitative semistructured interviews were conducted with 14 parents recruited through a large Regional Genetics Centre in the United Kingdom. The interview guide was designed to examine issues such as when and why parents started searching for a diagnosis, whether they were still searching, and what psychosocial issues had arisen as a result of not having a diagnosis. Data were analyzed using the Grounded Theory method.

Results: the parental experience can be viewed as a journey, which comprises of two distinct components: the inner, emotional experience, and the outer, sociological experience. Issues that comprise the emotional journey include the realization that there is a problem, the experience of testing, reasons for wanting a diagnosis, the emotional impact, and active coping mechanisms. Social issues include the experience with professionals, the various support networks accessed by parents, and issues such as education and housing. The issue of frustration was one that occurred throughout the journey.

Conclusion: although some of the experiences cited by parents are common to families raising a child with a diagnosed condition, lack of diagnosis adds a layer of complexity.

MeSH terms

  • Anxiety / psychology
  • Child
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / genetics
  • Female
  • Frustration
  • Genetic Testing / psychology*
  • Humans
  • Learning Disabilities / diagnosis*
  • Learning Disabilities / genetics
  • Male
  • Parents / psychology*
  • United Kingdom