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Points 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.

Activities

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.

Quotes
"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."

Further information

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

US National Library of Medicine, Genetics Home Reference -Ataxia and ATXN7

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.


Location: The Stories
Transcript

You can download the full transcript here

Cerebellar ataxia: my daughter’s story
Charlotte talks about losing her much-loved daughter to a progressive neurological condition

Our pretty youngest daughter was 18 months old when she was diagnosed at our local district general hospital with cerebellar ataxia. Spinocerebellar Ataxia Type 7 (SCA 7 to be exact). This is an inherited disease of the central nervous system. She survived for 51 more weeks.

We had been referred because she was not gaining weight. I thought I wasn’t feeding her well enough. After doing an examination and taking a family history the doctor with resignation said that the most likely cause of her small size was the onset of familial ataxia disease. Survival was a matter of months.

The doctor was sympathetic. She talked theoretically about support groups but said she didn’t know of any. I wasn’t interested anyway. It was too soon to admit defeat and need a support group. I later found one, Ataxia UK.

In the following days I remember my main emotion as anger. It felt as if my daughter had been physically hurt and I couldn’t understand how anyone would want to harm her; I felt I wanted to defend her against the medics. Years later now, this looks strange to me but that is how it was.

The rage gave way over the weeks of tests to resignation and the beginning of a long goodbye. The consultants at the London hospital were direct, caring and professional. The nurse I liked most was the one who cried when we talked about how short a time she had left. I loved her for that.

The diagnosis meant our other two children were at 50% risk. They were six and four at the time. I was desperate to know if they were free of the gene. We saw a geneticist who had a genetic nurse with her. To their eternal credit they withstood my pleas. How they managed that I don’t know as I begged them. They said they were the children’s champions; the children were too young to speak up for themselves. Their job was to preserve the children’s unknown genetic status so they could make their own choices about testing when they were adults. As there was no treatment and the children were asymptomatic there was no benefit to them from knowing their genetic status at that time.

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. Now the children are 21 and 19. Both have had genetic counselling and neither wants to have the test at least for the foreseeable future. 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.