Sophie’s story

Please note: this video does not contain subtitles. A full transcript is provided below.

Sophie:

In 2014 I went for a routine echocardiogram. It was just a routine check-up and Dr Chin said he had some bad news for me, that he had found an aneurysm in my aortic valve, and that he would need to speak to a surgeon.

Once I had met my surgeon I realised how serious it was. I had an aneurysm the size of a golf ball in my aortic valve. I obviously asked him the question, ‘am I going to die?!’ He said, ‘put it this way, if you were my family member, I would tell you to go ahead and do it’. So I went ahead and agreed that surgery was the only option.

Gavin:

When I met Sophie for the first time, it was clear to me that she had an underlying genetic condition that was in all likelihood responsible for her heart failure, her valve disease and the aneurysm of her aorta.

If she had known about this genetic condition at a younger age, she may have been able to receive treatment that would have stopped or slowed the progression of her heart disease. What I realised is that routine testing of genetic abnormalities in a young woman with these diseases affecting her heart was not routine. But what you’re talking about is a very complex intervention. How do you prove that imaging, genetic testing and genetic counselling is going to improve the lives of patients and relatives of those affected? Our research we hope will enable that.

Sophie:

It’s really empowering to know what’s happened to me personally has led to further research. The work that they do is unbelievable, and thank goodness for it. So I don’t regret it, no way, I do not regret it because I feel… alive.