A mother shares her story of how her youngest daughter died within a year of diagnosis. She also talks about how important it was that the genetics staff treated her other two children as individuals and protected their right to not be tested.
Point for reflection
The geneticist and genetic nurse acted as "children’s champions", upholding the rights of the other children, then aged four and six, to make their own decisions about testing when they were older. In this case, the two children were not showing any signs of the condition, which was untreatable, so there was no direct benefit to them at that time. It is up to health professionals to help parents realise that their children have rights, and that, although parents might believe they are acting the best interests of the children, there are times when decisions should not be taken on their behalf. However, parents may feel that living with uncertainty about their children makes their own situation more difficult. The support of a skilled and empathic health professional may help them to live with that ongoing uncertainty if testing is not performed for the healthy children.
- SCA7 is one of a group of conditions known as triplet repeat disorders. The gene change present is a 3 base pair nucleotide sequence that is repeated. The number of repeats can increase as the gene is passed down through the family, with symptoms becoming more severe and with an earlier age of onset. This is referred to as anticipation. Look at the NIH Gene Reviews website (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca7) or the US National Library of Medicine Genetics Home Reference website (http://www.ghr.nlm.nih.gov/gene=atxn7) to find out more about this type of gene change and other conditions that show anticipation.
- The two surviving children were 19 and 21 at the time this story was written, fifteen years after the diagnosis and death of their sister. Neither had been tested at that point, although the 19 year old was thinking she might be tested later in life. The 21 year old was unlikely to put himself forward for testing.
- - Thinking about the future of these two surviving children, do you think they should know for certain whether or not they are carriers of a pre-mutation? If they knew, what effects might that knowledge have on their futures? Do you think their attitudes will change at all as they draw nearer to making reproductive decisions?
- - What do you think might be the impact if young children in similar circumstances were tested? Think about the possible outcomes in such a scenario.
- - Imagine you are involved in the care of one of the siblings during her 20’s. Although she may be a carrier, she decides not to be tested and to have a child and take a chance. Is this an informed decision, in your opinion? How would you approach this situation?
Discuss these issues in your group.
- - Charlotte asks you if you could go over the explanation she received from the genetic consultant. How would you explain this type of mutation to her? Draw a diagram to help illustrate this.
Quotes to reflect upon
"The rage gave way over the weeks of tests to resignation and the beginning of a long goodbye." "The nurse I liked most was the one who cried when we talked about how short a time she had left." "So the geneticists were right. I recently met the same geneticists again and it was one of the most meaningful moments of my life when I was able to thank them for the gift they gave my two surviving children."
- Ataxia UK- a charity for people with ataxia, their families and carers - http://www.ataxia.org.uk/
- Ataxia UK publication on cerebellar ataxia - http://www.ataxia.org.uk/publications_and_pictures/ca_leaflet.pdf
- Ataxia UK - A Guide for the Medical Profession on cerebellar ataxia - http://www.ataxia.org.uk/publications_and_pictures/ca_guide_for_medical_professionals.pdf
- US National Library of Medicine, Genetics Home Reference -Ataxia (http://www.ghr.nlm.nih.gov/ghr/glossary/ataxia/target=) and ATXN7 (http://www.ghr.nlm.nih.gov/gene=atxn7)
- NHS Choices – Ataxia - http://www.nhs.uk/Conditions/Ataxia/Pages/Introduction.aspx
- NIH Gene Reviews - Spinocerebellar Ataxia Type 7 - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca7
- Sibs (http://www.sibs.org.uk):support for siblings who growing up with or who have grown up with a brother or sister with any disability, long term chronic illness, or life limiting
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 recognises the importance of family history in identifying individuals and families with, or at risk of, a genetic condition, who might benefit from genetic services and information (NCG1). The information obtained was sufficient to determine that “the most likely cause of her small size was the onset of familial ataxia disease” and give the mother a likely prognosis.
Towards the end of the story, the mother talks about her two other children. She wanted them tested to see if they had the same condition. The mother goes on to describe how the geneticist and genetic nurse who “explained that although we thought of the children as our property, they were individuals”, maintaining the children’s right to autonomous and informed decision-making later on in their lives (NCG3).
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
The doctor was able to take a family history (GP-3b) and use this information to help make a diagnosis (GP-1c). SCA-7 is an autosomal dominant, single-gene condition and the diagnosis meant that Charlotte’s other two children were at 50% risk. It is important that GPs understand how to assess genetic risk for family members of patients with Mendelian conditions such as SCA-7, and also possess the skills to use the available risk assessment tools to do this (GP-3d).
The family benefitted from a referral to genetics services (GP-1g), where they were able to receive specialist information and counselling (GP-1e) and the genetic information was conveyed in a clear and understandable way allowing them to make informed choices (GP-2b).
From Charlotte’s story we see some of the ethical implications that can arise not only for families with genetic conditions, but also for health professionals involved in managing their care (GP-2a; GP-8b). Here, Charlotte, who was ‘desperate to know’ if her other two young children were affected even though they were asymptomatic, says ‘we saw a geneticist who had a genetic nurse with her. To their eternal credit they withstood my pleas…They explained that although we thought of the children as our property, they were individuals and we did not have the right to rob them of the option they may adopt: to live their whole lives without the certainty of knowing they had the gene’.