Learning about the implications of a chromosome imbalance to a daughter’s development.
Meriel’s daughter has Down’s syndrome and this was only known after her daughter was born. Meriel describes the shock she felt at receiving this news and the sensitivity shown by the nursing staff. She also talks about how she has researched into the condition and discovered ways of supplementing her daughter’s diet, which has benefited her.
Point for reflection
- Read again the paragraph where this mother describes being told about her daughter’s diagnosis. Describe how the manner of the disclosure might have breached the basic ethical principles of healthcare.
- Compare the positive and negative experiences of health or social care described by this mother. What are the factors that appear to differentiate between positive and negative experiences?
- This mother is attempting to help her daughter by seeking information and using dietary supplements. How would you advise another mother who asks you about using these supplements?
- Can you find any published evidence that these are either potentially beneficial or harmful?
Quotes to reflect upon
“When I meet people for the first time, I assume that they do not know, and only mention her disorder if I get to know them. I do not see the point in mentioning it, as to me it is a label with a terrible stereotype. I want them to see her for who she is.”
“We have an excellent general health visitor. She keeps in contact and compares my child to any other, giving an honest opinion. That’s what we have asked for.”
- Down syndrome Association - http://www.downs-syndrome.org.uk/
- UK National Library for Health, Genetic Conditions Specialist Library website: Down syndrome briefing - http://www.library.nhs.uk/genepool/ViewResource.aspx?resID=88948&tabID=290&catID=8930
- US National Library of Medicine, Genetics Home Reference – Down syndrome - http://ghr.nlm.nih.gov/condition=downsyndrome
- The Antenatal Screening Web Resource - AnSWeR (http://www.antenataltesting.info/) http://www.antenataltesting.info/ has other personal experiences of Down syndrome (http://www.antenataltesting.info/conditions/downs/default.html%20target=).
- Antenatal and Newborn screening information from the NHS (England) is available here (http://www.screening.nhs.uk/an/index.htm).
- Brainwave (http://www.brainwave.org.uk/) helping children throughout the UK who experience Developmental Delay
How does this story relate to professional practice?
[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 way in which Meriel was told of the suspected diagnosis “with another woman one bed away” has stayed with her, along with the feeling that “We really should have been told in private.” The nurse at the time failed to appreciate the importance of delivering this information sensitively (NCG 2).
A re-occurring theme throughout Meriel’s story is one of the ‘right to voluntary action’, but also ‘informed decision making’ (both NCG 3). Meriel and her husband chose not to have any screening tests; retrospectively the GP by implying “that I should have had prenatal testing and then had a termination.” appears not to be ‘recognising that personal values and beliefs may influence the care and support provided to clients during decision-making’ (NCG 3). Meriel also voices concern that “the image of DS means that people make these decisions [termination of a pregnancy] with limited knowledge”. Within the process of informed decision making it is the role of health professionals to both support and provide access to information. The AnSWeR site (see Further information on the left of the screen) has been developed to provide ‘balanced information about disability to help you make decisions about screening tests in pregnancy’.
Content relating to the midwifery competencies in genetics will appear here shortly.
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: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf
Meriel and her husband chose not to undergo any prenatal screening tests during her first pregnancy as they did not agree with termination but Meriel says that on the few occasions she has needed to visit her GP, ‘they seem to feel the need to make some comment’. One [GP] implied she should have had prenatal testing and then had a termination and the other ‘appeared pitying’. When pregnant with her second child, she and her husband chose to undergo prenatal testing. In both cases, Meriel and her husband were entitled to make their own decisions even though the choices they made was different. This reminds us that GPs need to be able to discuss genetic conditions in a non-directive, non-judgemental manner regardless of the decision the patient chooses to make, ensuring that their own beliefs do not influence the content of the consultation and the management options offered to a patient (GP-8c), and also be aware that attitudes and decision-making may change over time.
Meriel and her partner went for genetic counselling which they found helpful. She was told about the ‘slightly higher risk of having another child with a chromosome abnormality’ and says ‘we do plan to have other children, but now feel that we could not cope with another child with DS’. Being informed of the recurrence risk for chromosome abnormalities enabled Meriel and her partner to make an informed choice about their reproductive options, in this case the decision to undergo an amniocentesis test for her second pregnancy (GP-3d).
Families such as Meriel’s might benefit greatly from being able to discuss antenatal screening programmes, such as that for Down syndrome, with their GP as part of a comprehensive patient management and also from receiving relevant information to help them make informed decisions (GP-4e).
Meriel says ‘there has been some difficulty in our family’ with her mother not wanting to acknowledge her granddaughter’s Down syndrome. She says ‘I can only think my mother was initially ashamed’. The unresolved arguments with her family and the ‘extra level of stress’ she mentions all indicate the impact that having a genetic condition in the family can have on the patient and their extended family (GP-2c) and also highlights the different views towards genetic conditions that individuals can have (GP-8b).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.