Rachel talks about the diagnosis (whilst pregnant), that her unborn daughter has cystic fibrosis (CF). With no CF in the family Rachel discusses the need for families to receive accurate and useful information, and for improvements in healthcare staff knowledge, in order to provide better care. Rachel also talks about the impact this genetic condition has had on the family now that they have two children with CF.
Point for reflection
Consider the psycho-social issues as raised by Rachel’s story and reflect upon these.
- Reflect on the choices that the parents have made, not to have an amniocentesis in either pregnancy once it was confirmed that they are both carriers of cystic fibrosis gene changes.
- CF is an autosomal recessive condition. Are you confident in explaining this type of inheritance to a colleague or client? If not, try practicing giving the information to a friend.
- In a family where both parents are carriers of CF gene changes and two children have CF, what is the risk/likelihood that the next child born will also have cystic fibrosis?
- If you are not familiar with the UK newborn screening programme for cystic fibrosis, look at the information available online and the links to other newborn screening programmes.
- Would you be confident in providing parents with information about the test, obtaining informed consent and relaying the results of the test?
- Further reading: Alex: The life of a child by Frank Deford (1983) Viking Press, New York. In this detailed and moving account of his daughter, Alex, Frank Deford writes about how the family coped with her cystic fibrosis until her death at the age of eight.
Quotes to reflect upon
"I know that CF is fairly rare in the grand scheme of life, I'd never even heard of it before they said my daughter might have it at 22 weeks pregnant, so I know it's unreasonable to expect every doctor and nurse to know lots about it, but it would have made things so much easier if midwives knew more about echogenic bowel and CF, especially as they are now planning to test for CF routinely on the Guthrie Test throughout the UK."
"We did have one session of genetic counselling, just after my son was born (second child with the condition), but by then it was far too late."
- The Cystic Fibrosis Trust (http://www.cftrust.org.uk/) has a number of booklets available for download (http://www.cftrust.org.uk/aboutcf/publications/booklets/) including one on the genetics of CF.
- UK National Library for Health, Genetic Conditions Specialist Library website: CF briefing - http://www.library.nhs.uk/genepool/ViewResource.aspx?resID=83901&tabID=290&catID=8930
- US National Library of Medicine, Genetics Home Reference: Cystic Fibrosis - http://www.ghr.nlm.nih.gov/condition=cysticfibrosis
- Information on fetal anomaly scans and newborn screening can be found through the NHS Antenatal and Newborn Screening pages - http://www.screening.nhs.uk/an/index.htm
- Information on postnatal depression is provided by: the Royal College of Psychiatrists (http://www.rcpsych.ac.uk/mentalhealthinformation/mentalhealthproblems/postnatalmentalhealth.aspx), Patient UK (http://www.patient.co.uk/showdoc/23069110/) and Mind (http://www.mind.org.uk/Information/Booklets/Understanding/Understanding+postnatal+depression.htm).
- The Antenatal Screening Web Resource AnSWeR (http://www.antenataltesting.info/) has a personal account of cystic fibrosis from Christopher (http://www.antenataltesting.info/conditions/cf/default.html), an adult with CF which includes how his parents found out he had CF and how his life expectancy was frequently revised.
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]
This story highlights the need for accurate and timely information at every stage of the client journey (NCG 7), in this case, before, during and after pregnancy. However, simply providing information is not sufficient. As a practitioner you need to consider each situation individually and provide the right information at the right time (NCG 2). As this couple say, once they had been told their daughter had CF they were provided pamphlets and directed to websites, however, “we weren't ready for more information. We just wanted to know what we needed to know for caring for her, not all the detailed background info. When we were ready, we researched it ourselves.” On another occasion “They did finally put us in touch with the CF paediatrician…but they sprang the meeting on us with absolutely no notice, so we didn't have chance to think up questions.”
It also illustrates how two individuals with the same condition can be affected differently. For example, cystic fibrosis was considered during the first pregnancy because of a problem with the bowel detected on the anomaly scan. The second child did not have any detectable problem. This variation is not restricted to cystic fibrosis, but the story highlights why practitioners should be able to demonstrate NCG 4. It is important in both the identification and management of genetic conditions.
Content relating to the midwifery competencies in genetics will appear here shortly.
Learning Outcomes for GPs
Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.