Jacqui is the creator of ‘Sybil on Tour’ which raises money for the Huntington’s Disease Youth Organisation. Follow her on:
‘Toss of the coin’: Testing for Huntington’s disease is not a decision I took lightly and setting the ball rolling took many years of deliberation and doubt. I have pretty much known my risk as a child of a mother with Huntington’s, and the 50/50, heads/tails, negative/positive debates go through your mind every day .
As with many people at risk there is the constant self-analysis, -, and obsession looking for those tell-tale signs wondering, have I got what Mum had? Dropping keys, forgetting names, losing tempers, all could be the start of Huntington’s. An observation by a health professional that I was twitchy and anxious and that might be Huntington’s, finally after many years, sent me to the genetics department to start the process.
At the same time as this, I was (and still am) caring full time for my brother who had been symptomatic for about 15 years. We don’t have children so heads or tails it wouldn’t have any effect of future generations, but I do know that children is a big reason many people decide to test.
At the same time of beginning the process of testing, I was contacted by a radio 4 producer who was interested in people making a life changing decision. The BBC wanted to document the testing process, so myself, my partner Tony, and Sarah the producer began to attend the counselling sessions.
Being the third generation of a HD family, I have probably analysed every ‘pro’ and ‘con’ of testing but it’s useful to talk these through and ensure I hadn’t missed anything. What genetics did stress was that there is no medical reason to take the test, so a result negative or positive was merely knowledge and once that knowledge transmitted you can’t undo it.
Advances in science an numerous trials on silencing the defective gene perhaps make testing seem a little less difficult these days, and there is some hope, however the choice for everyone walking into that room to get their result it’s life changing.
If you want to listen to the testing process and my journey you can find the programme here. Thanks to Leeds genetics team for their care and Tony. Jacqui x