Kay’s account of her role as her daughter’s advocate
Kay tells us of the story of her daughter Rose who has been diagnosed with Costello Syndrome. Kay shares the genetic story so far, of the tests Rose has undergone and the reactions of healthcare professionals to her daughter’s rare condition. Her story reminds us that first and foremost, parents want their children to be accepted as children, with the genetic condition being a secondary part of their identity.
Point for reflection
- Kay says "The confirmation came with mixed feelings. We were sad that our child had a firm diagnosis of Costello, but glad that if she was going to have it she had been born at the right time when so much research was going on about the syndrome". It is common that parents have mixed reactions when a diagnosis is confirmed. Consider what some of these ‘mixed feelings’ might be.
- Kay says that she has had to become her daughter’s advocate. Drawing on your own experience of working with families or carers, think about how you have helped empower them in their role as an advocate.
- Kay says that at 11 weeks, she was offered a CVS but that a normal karotype after CVS does not mean that you have the all clear. How would you deliver such information to your patient? What advice and support would you offer them?
- In 2005, the gene mutation that causes for Costello was found. Using the resources available to you, find out what you can about Costello syndrome and the underlying genetic causes.
- Kay says that they received information about the mutation in a letter and were not offered any genetic counselling. Discuss how else this situation could have been handled? What would you have done as a practitioner?
- Although we have linked this story to competences that relate to sensitivity in communicating, advocacy and the issues around genetic testing, in fact we could have selected any of the competences. Read through the story again and identify additional competences that relate to identifying clients who might benefit from genetic services, understanding the role of genetics in health, recognising the limitations of one’s own genetics expertise, and communicating accurate genetic information.
Quotes to reflect upon
"..we assumed the reason Rose looked so different from our other babies was that she was premature, however it did not help that when she was delivered the first thing the paediatrician said to Andy, my husband, was "her neck is a bit short!"
"it was only in hindsight that we became angry that no-one had had the sensitivity to suggest the interview was conducted in privacy."
"He had a lovely approach and obviously viewed Rose as a baby and not an 'interesting case' - he helped claw back a bit of my respect for the genetics profession!"
"…having such a rare syndrome meant that we needed to be her advocates and experts."
"treat Rose as Rose, not a child with Costello. She, like every other child is unique…"
"Now that we have our confirmed diagnosis, we have actually felt quite empowered."
- International Costello Syndrome Support Group - http://www.costellokids.org.uk/
- Contact a Family - Costello syndrome - http://www.cafamily.org.uk/Direct/c74.html
- US National Library of Medicine, Genetics Home Reference - Costello syndrome - http://www.ghr.nlm.nih.gov/condition=costellosyndrome
- Gene Reviews - Costello syndrome - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=costello
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]
In her story, Kay comments that "now that we have our confirmed diagnosis, we have actually felt quite empowered" showing us the utility of genetic testing and the impact that genetic information can have (NCG 5).
When the geneticist examined Rose, he noted her "ysmorphic" features; a term that Kay says "haunts us". This example highlights how receiving genetic information can have a psychosocial impact (NCG 5). As Kay says in her story, she spent weeks afterwards looking at other babies and comparing them to Rose. This is one of several instances in Kay’s story where greater sensitivity in communicating was required by some of the health professionals they encountered and would have been appreciated by the family (NCG 2).
Kay discusses her role as Rose’s advocate and also how she has gained expertise on her daughter’s condition and says "in most cases, professionals are eager to have this information and respect my role as Rose’s advocate and the expert on the syndrome." This reminds us of the importance of upholding the rights of all clients to informed decision making and voluntary action (NCG 3).
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
Initial tests gave Kay a 1 in 4 risk of Down syndrome and as a result, she was offered a CVS prenatal diagnosis test which gave a normal karyotype. Kay’s comment ‘what they did not tell you is that a normal karotype after CVS does not necessarily mean you have the all clear. We assumed everything was going to be OK when the CVS and subsequent fetal echocardiogram were normal’, highlights the importance of being aware of the genetics aspects, uses and limitations of antenatal screening programmes (such as for Down syndrome; GP-3c), and also the different uses of genetic tests, such as the prenatal diagnostic test that Kay had, and their limitations (GP-3e).
Kay discusses how, a year after her birth, the gene for Costello syndrome was identified and Rose was found to have the gene change, however it is important to recognise that it is not always possible to determine the gene change responsible for a genetic condition (GP-6c).
Taking into account Rose’s symptoms, her consultant felt that ‘things were not falling into place’ and felt that the family might benefit from specialist genetics help (GP-1e) and facilitated a referral to genetics services (GP-1g). In doing so, she recognised her own limitations and knew where to seek advice (GP-8a).
This story highlights both positive and negative aspects of communication. Whilst the initial geneticist conducted the consultation in an open ward, discussing sensitive matters with no privacy, the genetics consultant communicated with the family in an open, honest and sensitive way. These instances demonstrate explicitly the need for genetic information to be communicated clearly (GP-2b) and also in a sensitive way using appropriate communication skills (GP-3a).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.