In many ways, this final episode of the Bitter Inheritance series offers the clearest potential for use in teaching about genetic diseases. This is partly because the focus is on Huntington’s disease (HD), a well-known and well-studied condition, but also the fact that the dilemmas the Day family go through paint a very vivid picture of the implications for the wider family of both the disease itself and of choosing whether or not to take a genetic test. HD is an autosomal dominant disorder of the nervous system – if you have the faulty gene you will get the disease. It is a late-onset disease, symptoms normally start to appear when the sufferer is around 40 years of age and there will be progressive neurodegeneration over a 10 to 15 year period. The fact that the symptoms are not evident until that time means that people have often had their own children by that time, with a 50% chance that they have passed on the disease.
In the programme, Sylvia has tested positive for HD. Following her diagnosis, Bryan, one of her sons, also decided to been tested to “find out for his children’s children” (00:06:00 to 00:07:55). He too, it turns out, has the disease. At the start of the episode, however, his brother James has still not had the test and the programme follows his story. A section from 00:07:57 to 00:11:00 provides an insight into how genetic counselling from the NHS genetics service begins this process, raising some of the issues surrounding the test, e.g. onset and progression and future implications of the disease. The counsellors hope to convey all potential scenarios and consequences in a nondirective manner, so that James has as much information as possible but maintains his autonomy over whether or not to have the test. The genetics services do not want someone to rush into taking the test unprepared for the consequences of the outcome. In contrast, James “doesn’t want to talk about it anymore, I just want the test”; he becomes increasingly anxious and would rather just get it over and done with (00:17:24 to 00:18:37).
The section from 00:17:24 to the end of the episode helpfully demonstrates how such decisions have to evolve and develop, involving a whole series of deliberations along the way. James and his wife Debbie discuss many issues, from practical matters such as life insurance and mortgages, through to whether or not their relationship is strong enough to cope if James has the disease. At several points James also reflects on how he would feel if he has got the disease and how devastated he would feel knowing that he might have passed it onto his children.
Luckily for James the programme concludes with the news that he has not got the disease.
This 40 minute programme has been broadcast twice; 7th February 2002 (BBC2; 21:50) and 30th June 2003 (BBC2; 23:50). TRILT identifier 0016F9D2.