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Nobody's Fault - Achondroplasia

Maria’s experience as a mother caring for a child with this dominantly inherited condition.

The mother of a boy with achondroplasia relates her varied experiences of dealing with health care professionals during the first year of her son’s life.


  • reflection Point for reflection

    1. For some parents, there is a sense of guilt or responsibility, even for spontaneous mutations when “it’s nobody’s fault”. What support are you able to offer to parents who feel in some way guilty that they have passed on a condition to their child?
    2. The parents of very young children also have the worry over how and what they will tell the affected child when he or she is older. What guidance and support might you be able to give parents who have to tell their child that he or she has a condition which will affect his or her life? Who else might appropriately support them?
  • Activities Activities

    In this story, the family were helped greatly by a health visitor who knew very little about the condition, achondroplasia, but who was prepared to put in the time and effort required to educate herself.

    1. If you were working with a family that had a genetic condition about which you knew little or nothing, how would you start to find the information both they and you needed? Using achondroplasia (or another condition of interest to you), look for information that would be suitable for both you (and your professional development) and for parents/individuals.
    2. As a qualified nurse working on a children’s ward, you are told to expect an admission of a 10 year old child with achondroplasia who has a severe ear infection. List three key points you would tell a student nurse about Achondroplasia. What other advice could you give the student in preparing her for this child?
    3. Would you know how to make an appropriate referral? Write a practice referral letter to the genetic service about the family in this story.
  • quotes Quotes to reflect upon

    “It was just very fortunate for us that we had a brilliant health visitor who gave us all the support she could offer.”

    “It has made us realise how much of a lottery life is.”

    “My son having achondroplasia has not changed the way we feel about him, or the way we will treat him. As we were once told, he’s the same little boy, just a bit shorter.”

  • Further Information Further Information

How does this story relate to professional practice?

  • cogs Nursing Competencies

    [We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]

    The importance of the ability to ‘Appreciate the importance of sensitivity in tailoring genetic information’ (NCG 2), or otherwise, is demonstrated at the start of the second paragraph. A “rude and arrogant” consultant “made a very difficult time a lot harder”. The client’s mother found that the attitude of the consultant did not help her to come to terms with her son’s achondroplasia; she felt unsupported and without a source of help.

    However, later on there is a health visitor who acted to ‘Obtain and communicate credible, current information about genetics’ (NCG 7). This health visitor became the source of support the parents needed, and although she knew very little about achondroplasia, she was prepared to educate herself, so that she could help educate the parents and provide them with more support than would have been the case otherwise.

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs Learning Outcomes for GPs

    We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at:

    Maria explains how her son’s achondroplasia was caused by a fault in one of his genes during conception and was not actually inherited reminding us that it is important for health practitioners to be able to recognise signs and symptoms and to be able to identify genetic conditions in patients even when there is no family history (GP-1b).

    She goes on to describe the shock she felt when she found out about her son’s condition, particularly with a lack of family history, and says ‘I’m not sure if we should feel in some way responsible’. She wonders about what the implications might be for the future in terms of her son passing the condition on to his own children, saying ‘we know that what we say to him to explain this will affect the way he views himself’. Here, we see clearly the emotional impact a genetic diagnosis can have on a family, particularly associated with guilt about ‘passing on’ a condition (GP-8d).

    Recalling the time they received her son’s diagnosis, Maria felt that the information they were given wasn’t fully explained. She was left confused and says ‘when you are given such a life-changing piece of information, there is a lot to take in’, highlighting the impact of this information on Maria and her family (GP-2c). In contrast, she found her referral to a geneticist very helpful where she was provided with clear and understandable information on how her son’s condition came about and some of the clinical symptoms (GP-2b).

    Initially, the family did not feel they got the support and help they needed and had to wait for a referral ‘because nobody knew who we should be seeing’, highlighting the importance of knowing where to obtain specialist help and advice on genetic conditions (GP-1e) and how to coordinate care with other health professionals (GP-1h). Maria’s health visitor and GP recognised their limits with regard to managing her son’s achondroplasia (GP-8a) and their efforts ensured that the family were referred to the appropriate specialists to gain further help (GP-1g).

  • cogs Learning Outcomes for Medical Students

    Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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