The story toolbox
Show all tools
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.
1. 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.
2. 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.
"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
Ataxia UK publication oncerebellar ataxia
Ataxia UK - A Guide for the Medical Profession on cerebellar ataxia
NHS Choices – Ataxia
NIH Gene Reviews - Spinocerebellar Ataxia Type 7
Sibs: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 condition.