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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"
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:

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:

Information for parents

  1. General information about the condition that is written in a clear and easy to understand manner
  2. A few of the more common complications associated with the condition over the child’s life
  3. Contact information for a social worker or counselor
  4. Parents frequently asked questions
  5. How and where to get more information
  6. Support group information
  7. Social services and benefits families may be entitled to
  8. Fact sheets providing more detailed information about the condition over the child’s developmental stage
  9. Information about the social aspects of the condition
  10. Information about the various emotions families may be going through and mention of the grieving process
  11. Summaries of other parents’ experiences, suggested coping strategies from parents with children at various ages, summaries from adults with short stature about their lives.
Information for healthcare professionals

  1. Information about the condition
  2. Signs of complications and things to monitor as the child gets older
  3. A growth chart specifically designed for children with the condition
  4. Information about the social and emotional aspects of the condition
  5. Contact information for support groups, social workers, counselors, and the Bone Dysplasia Clinic
  6. Information on how to improve communication skills and increase awareness of the impact of language and presentation
  7. Leaflet on disclosure process:
  • When, where, and how are the best ways to deliver the diagnosis
  • What type of information do the parents want at this time, e.g., very specific information or a general overview of the condition
  • The importance of individualizing the disclosure interview
  • The need to have a social worker or counselor immediately available to the family after, or even during, the disclosure interview


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.
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