Genetic Testing in UK

It was very interesting reading about genetic testing ,but is mostly in the US and Canada. I think it is quite a bit different over here in the UK, so I thought I would post a similar topic for this side the pond.

I have a little experience of genetic testing. We are all very different and want/need different things. I think my family is quite a good mix. Back in 1995 we discovered that my Dad had inherited the family illness and after much testing they discovered that he had SCA1. They had just discovered how to test, and offered me and my 2 sisters the chance of being tested. As a family, our GP referred us to the West Midlands Regional Genetics Service. My oldest sister did not want to know at that time (years later, she was tested in Australia after developing signs). Both my middle sister and I had young families. I knew immediately that I needed to know.
Ian, my husband and I, had to have 6 months counselling, to decide if we could cope with having the blood test and the definite result. We wanted to know because we did not want to have a bigger family if there was a chance we could pass on the faulty gene. I had the test, it took about a month, and discovered that I had inherited my Dad's faulty gene. I was devastated and it took about a year to properly come to terms with the news. Although we chose not have any more children, we have 2 great kids, now 23 and 21years old. I am so pleased that I did not know about SCA1 before I had them because they are fantastic, and I did not have to decide.
Our GP was brilliant because I did not want to tell my children about the possibility of inheriting my faulty gene but she said just think how shocked I was when I found out, and it was much easier to grow up knowing you MIGHT have something. As adults, they have both decided that there is no point in finding out because our SCA1 does not start until you reach your 40s. They have also pointed out to me that I would not be here if my Dad had thought like me and they may not! I have changed my thinking over the years, although it is still very difficult knowing they have a 50% chance of inheriting my ataxia.
My other sister decided after about a year, that she would have the blood test. She had the counselling but had a mental break down. When she was over it they decided to test her and luckily she is clear and does not have SCA1. I was very, very pleased for her, but a tiny bit of me wished I was her. I am fine now and have come to terms with it!
That was a long one! Like I say, we are all very different and need different things. Testing is only relevant in some cases too and in my case they knew what they were looking for.
I now visit the London Ataxia Centre annually. I know they offer testing and when/if my kids decide they want to be tested it will either be there or where I visited. The tests were free.
Love Lit

Thank you for that perspective. I live in the US, but am interested in hearing what others think about having the genetic testing (I posted the question about it here). I appreciate what you have to say.

Thank you so much Lit. I appreciate your sharing and perspectives.

I have CA of no known cause. My mother had symptoms but these were not apparent as she also had severe rheumatoid arthritis. It is only on reflection that I realise that she walked liked I do now.

I am glad I didnt know I had ataxia as a child - I was energetic and as a middle child, swept along with the enthusiasm of life. My mother died at 57 [she overdosed] my sister died of ovarian cancer at 67 and my brother has no signs at 66. I shall be 70 this year.

I have one child, a son of 40 who has 3 children and he doesnt want to know if any of them will develop ataxia.

My trigger was an operation to straighten my right foot when I was 59. I am still walkilg with aid of two Fischer sticks and my speech is unaffected.

I attend Dr Giunti's clinic in London every 2 years but my genetic testing was done at Ipswich. My muscle biopsy at Cambridge. I was originally diagnosed in Chelmsford, Essex. We are due to move to Colchester next month so I am spreading the knowledge!


sorry about text changes!!