Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature

This is an old study, but the theme is still current.

Hill, V., Sahhar, M., Aitken, M., Savarirayan, R., & Metcalfe, S. (2003). Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. American Journal of Medical Genetics. Part A, 122A(2), 100–107. Available from: https://doi.org/10.1002/ajmg.a.20201.

They introduced the study with:

“It is recognized that the disclosure of a diagnosis of a disability or illness to a family can rarely be a positive experience for the family and the health professionals involved“.

In the abstract you can read the following: “Many studies have shown that, for families who are given the diagnosis of a disability, satisfaction with disclosure is an important element. Information given and the attitudes of the disclosing health professionals during this critical period have a significant effect on the coping and adaptation of the family. While most studies dealt with conditions involving intellectual disability or cancer, this study was conducted to explore parents’ experience of being told that their child had a condition, such as a bone dysplasia, that would result in significant short stature. Semistructured interviews were conducted with 11 families who had children diagnosed with a bone dysplasia, specifically,achondroplasia (n = 9) and pseudoachondroplasia (n = 2). Families were recruited through the Bone Dysplasia Clinic at the Royal Children’s Hospital, Victoria, Australia and via contact with the Short Statured People’s Association of Victoria. Parents were asked about how they were told of their child’s diagnosis, how they would have preferred to have been told, and what would have made the experience less distressing for them. Transcripts of the interviews were analyzed, and major themes were identified relating to the parents’ experiences. Our data suggest that the manner in which the diagnosis is conveyed to the parents plays a significant role in their adjustment and acceptance. Provision of written information relating to the condition, possible medical complications, positive outlook for their child’s future, and how to find social services and supports were some of the most significant issues for the parents. The multidisciplinary approach of the Bone Dysplasia Clinic was important to parents in the continued management of the families.”

Many people will read this and relate to some of these experiences.

Achondroplasia is much more than being short or just having a rare skeletal condition. It affects the child, the parents and the family deeply and it’s a great challenge at several levels.

In this paper, the research group gave some suggestions for the development of Information Packs for Disclosure of Diagnosis of Bone Dysplasia Resulting in Short Stature that I found somewhat useful: