A personal experience of genetic testing
This story comes from a lady who wishes not to be named. We have called her Ann. In 2011, Ann took part in online genetic testing and discovered that she has a variation in the LRRK2 gene. Here she describes how she came to terms with this news and the effect it’s had on her family.
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I was 53 when I was diagnosed with Parkinson’s following three years of visits to the doctors, so definitely at the younger end of the spectrum. But I didn’t know of anyone else in the family who had it so didn’t really consider the possibility that genetics could be involved.
From almost day one I was determined to get involved in research.
I wanted to help find answers and better treatments, if not for my generation then for the next. I knew I would never forgive myself if in the future anyone in my family was diagnosed with Parkinson’s and I had not helped where I could.
In 2011, a genetic testing company was advertising for people with Parkinson’s because they were collecting genetic data for research purposes. Quite a few other people I knew with the condition were doing it and I thought why not, if would help advance research?
Taking part was easy. At the click of a button I signed up and they sent me a kit in the post. I just had to spit into a tube and post it back to them and six weeks later I got an email to tell me my results were displayed on their website.
Looking at my results on the screen my eyes were instantly drawn to the words ‘elevated risk of Parkinson’s’. I quickly clicked on the more detailed findings which said I was a carrier of a genetic mutation in the LRRK2 gene called G2019S. The shock of reading those words is difficult to explain. I just hadn’t considered this to be a possibility.
It dawned on me that these results weren’t just important to me but may also have implications for my children and siblings.
I panicked and shut down the computer.
For a long time I tried not to think about it but eventually I read the report again more carefully then spent quite a lot of time Googling the LRRK2 gene and my particular variant, G2019S, to try and understand what it all meant. I discovered that I had a 50% chance of passing the variant on to my two sons and that there was also a chance my brother or sister could have inherited it.
The first person I told was my husband, who was incredibly supportive.
We spent a long time worrying about how best to tell our sons — who by this time both had children of their own. When we eventually plucked up the courage they were both very understanding and asked lots of questions, including about whether they could take part in research themselves. I have since told my brother and sister and they’ve been great too, although they haven’t yet told their own children.
Looking back six years on I am glad that I know that I carry this LRRK2 variant. For one thing, I now know that specific drugs targeting LRRK2 are being developed and I may be able to participate in clinical trials.
My one regret is jumping in to the testing without discussing it with my family first. If I could go back in time I would definitely change that.
We’d like to thank Ann for sharing her experiences with us. If reading her story has raised questions or concerns, please read the other blogs we’ve produced on this topic below or email us at research@parkinsons.org.uk
