Aurelia and Mike

One couples experience of arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnosis

Mike was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) in 2005 after having a cardiac arrest playing rugby at university.

He was studying medicine at Southampton and his fellow medical students did CPR for over 15 minutes until an ambulance arrived and he was shocked with a defibrillator.

It took a while for heart specialists to diagnose ARVC and he has been looked after by a team at the Heart Hospital in London.

He has had further problems since his diagnosis with episodes of a potentially life-threatening heart rhythm (called VT) leading to shocks from his ICD and also a storm of them in 2008 and 2009 that lasted (on and off) for months and resulted in lengthy stays in hospital and invasive procedures to try to stop them. His ICD also had several malfunctions that required surgery.

Mike and I met in 2008 as junior doctors on a night out, and his VT storm started soon after this. So it was a difficult start to our relationship.

We got through it though, and got married in May 2011. We both knew that we wanted children, but Mike felt very strongly that he didn’t want a child to go through what he has been through and so wanted to ensure any baby of ours did not have ARVC.

Unfortunately, ARVC is inherited and each child of an affected parent has a 50 per cent chance of also being affected. The only tests available when we started to think about having children were both done part-way through pregnancy. This would have meant a potentially difficult and ethically challenging decision of what to do about the pregnancy if the tests showed the baby was positive for ARVC.

I was absolutely certain that I wanted children, even if that meant taking the chance that they might have ARVC. But Mike was not willing to take this chance. He would not consider prenatal diagnosis and termination if the foetus was affected. If that had been applied to him he would not be here.
This was a really difficult time for us and one that I can see has the potential to divide relationships and families.

Luckily, I had some experience of preimplantation genetic diagnosis (PGD) as a medical student at Guy’s and St Thomas’s in London and we heard genetic counsellor Genevieve Say talk about the treatment at the Cardiomyopathy UK's London information day in 2010.

Genevieve’s talk gave a really good overview of the process of PGD - what a couple would need to go through and the rough time frame.

She also talked about what had already been done for cardiomyopathy. She was eloquent, calm and friendly (just as I have found her to be at all of our subsequent meetings). She was very helpful answering questions too.

I managed to get us referred to our local genetics service to discuss the possibilities. To allow this, Mike had to register at the same GP as me and we waited a while to see the team.

They referred us to the specialist centre at Guy’s and St Thomas’s. We were seen there that May and by Genevieve who ran through all our options.

The Human Fertilisation and Embryology Authority (HFEA) had not yet granted a licence for its use in ARVC but Genevieve was not confident that the condition would be accepted due to its variable nature (some people are minimally affected while others’ lives are profoundly affected).

However, we pressed on with the application to the HFEA ethics committee, and also applied locally for funding for PGD. We were lucky enough to be granted funding for one cycle. We have since been told that this is no longer offered locally, a huge shame for other couples in a similar situation.

I found out that I could write to the ethics committee and ask them to consider our views when they considered the licence application. I wanted to do everything I could to help the committee members to understand what life with ARVC is like for Mike and me, and the constant uncertainty about the future.

We were hugely relieved when the answer came through via the PGD team that the licence had been granted.

Then followed the lengthy genetic testing, including family blood testing and waiting for a space to become available for a PGD cycle. This was followed by the gruelling process of IVF which I found hard. Each stage was nerve-wracking. Would the ovarian stimulation work? Would egg collection be successful? Would fertilisation work? Would the embryos grow? And, most worrying of all, would there be any embryos unaffected by ARVC? My ovaries were huge, and I was uncomfortable.
If my memory serves me correctly, eight eggs were harvested and three were unaffected by ARVC and healthy enough to be considered for transfer. Again, we felt incredibly lucky and privileged when we found out we were pregnant with twins!

I can happily say that we now have twin boys, Morgan and Evan, who were born in May, exactly two years to the day from our first appointment with the PGD team in London.

We feel lucky, relieved and pleased and we are so grateful to the PGD and assisted conception team at Guy’s and St Thomas’s, especially Genevieve Say, who has been in regular contact throughout the long and taxing journey.

We also recently had the test results from the twins’ cord blood samples that confirm the twins are unaffected by ARVC.

We feel that, with the help of the PGD team, we have given our sons the best chance we can of a secure and healthy future.

It is so important that other families in similar situations know what options are out there and know how to get the expert advice they need to make the right decision for them about having children.

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