"Genetic testing has given me a lot of answers"
As part of a research trial, Debbie found out that she carries a change in the GBA1 gene, which increases the risk of developing Parkinson's. She explains why she chose to be tested.
“It was about 2 years into my diagnosis when my neurophysio mentioned a research project called Frontline PD. At the time I was trying to get as much information as possible about what was happening to me.
“As a person with young-onset Parkinson’s, I thought it was a good way to find out more, so I signed up. The researchers were only looking for people who carry a specific genetic difference, so I was sent a testing kit and asked to provide a saliva sample.
“A few months later, they rang me with the result: I have a genetic mutation of the GBA gene R502C. They spent a short time on the phone giving me a little information and explaining that I could call them back if I needed any help.
I then did my own research about what this meant for me. Things started to add up: having this gene difference put me at an increased risk of developing Parkinson’s and meant it could progress quite quickly.
“My son can choose to be tested when he reaches 18, but I’m not sure whether he will. Personally, I’m glad I had the test done as it has given me a lot of answers.”
Is genetic testing right for me?
Having a positive genetic test does not change the treatment you receive. But it tells us more about why Parkinson’s developed, and possible risks to other family members.
It might also mean you’re able to take part in drug trials that are testing new treatments in people with a genetic link to Parkinson’s.
But testing isn’t necessarily right for everyone. People can react in many different ways to finding out that they, or someone in their family, has an increased risk of developing Parkinson’s.
Before being tested, it can help to speak to a genetic counsellor to make sure you understand the possible risks and benefits.
There are currently no treatments that can slow or stop the progression of Parkinson’s. But with the right treatment and support, people can manage their symptoms and live well with the condition.