Genetic Results Shock

Darcie's Brugada came from me - her Mom - disproving a lot you read about Brugada and the prevalence and origin of it...

Shocking as it was, deep down I knew it was me, but I needed the results to come back and to be actually told ‘yep, it’s you. You’re the one who has the ’mutated’ SCN5A gene which has been passed on to little Darcie’. When I was first my result told by the geneticist, I had so many emotions, shock, guilt, anger, sadness and realisation…Realisation that it all made complete sense. I’d first fainted when I was in my teens, I’d gone shopping with my Mom and she’d spent ages nattering away to someone in a shop and suddenly I ended up on the floor passed out coming round to my name being called by my Mom. That overwhelming feeling of darkness isn’t one you forget when you faint, but it was that long ago and the first time it’d happened so nothing untoward was ever thought of it - I was a teenager, I’d been standing up for a while – end of. But although it was my first fainting episode, it wasn’t my last…

Joe and I were having a whale of a time visiting his parents who live in Australia when we were in our early 20's - we worked and travelled our way around the country visiting some amazing places and of course enjoyed the heat and everything about the country that has become our second home ever since that first visit albeit the other side of the world. I vividly recall one day stopping at a lake to see some turtles with his parents and boom I had the same feeling I'd had all those years ago; the same dizziness and darkness that overwhelmed me the next thing I know, I'm on the floor again coming round to the sound of my name being called by a worried Joe and his parents. This happened only another twice in Australia. But the next time was quite scary as I was on a busy train going to work by myself. I'd been standing up for quite sometime (again) when I suddenly blacked out and literally had a tonne of faces looking down on me asking if I was OK when I came round. Again, it was so long ago I don't really remember what happened, but I do recall Joe buying the middle-aged man who put me on a train back home a beer the following week to thank him for looking after me! The last time I fainted was in more recent years, but still about 8 or so years ago and I blamed that for doing too much painting in one day and the fumes from the paint. So in all my fainting episodes, I do have reasons for them - the heat, standing up for too long and pushing my self a bit too much. But I have also had heart palpitations in the past too and on one occasion in my early 20's, ended up in A&E being strapped to an ECG machine, but again I did have a reason for this - way too much caffeine...and since that day I've cut out caffeine completely from my diet and haven't had palpitations since. I've had a few ECG's after that episode but nothing was ever picked up. Even my recent ECG doesn’t show the ‘classic’ Type 1 Brugada pattern – it’s not ‘normal’ according to our cardiologist, but it doesn’t point to the condition either. But is this all just a coincidence or is it linked to Brugada? Who knows. I just know it makes sense that it's me it's come from.

Children's results

About a week after I had my results, I received another call from the geneticist who asked if I was ready for the children's results. Was I? Probably not but she proceeded to tell me after I'd put on a brave voice and said yes. Darcie's results we already knew and from what we'd been told, Harper's was going to be positive too - which she confirmed was indeed the case - we'd already braced ourselves for that. So that made 2 of our 4 children positive. The way this type of hereditary gene is passed down, is through autosomal dominant inheritance, meaning that only 1 copy of the mutated gene is needed for any child to have it, which means a 50% chance of each child inheriting the gene. So facing the odds with 4 children, you'd expect only 2 of them to inherit it. Well no, not us, not our family. I don't think I quite expected the shock of what she was going to say next. She confirmed that ALL four of our children tested positive for the mutated gene which has been somewhat of a hard pill to swallow. The question remains then, how many of them actually have Brugada Syndrome and which of them have only the gene and are not diagnosed, like me, and it's this part which is is all a bit complex as each child is different.

We know Darcie has the condition - she has Type 1 Brugada ECG pattern which was uncovered when her tiny heart went into ventricular tachycardia/fibrillation, so her diagnosis from her cardiologist was straightforward. Caitlin is asymptomatic and does not have anything showing on her ECG that points to Brugada, so for her, her management will be routine cardiac screening appointments to ensure nothing has manifested and remains asymptomatic. But it's with a heavy heart that we found out that Bailey unfortunately has also been diagnosed with Brugada Syndrome too; he has the same ECG pattern as Darcie so is at a higher risk of having a cardiac episode, even though he has not had any cardiac events to date. We were also informed that he will require an ICD but the cardiologist team want to try him on a drug 'quinidine' first which helps with heart arrhythmia's and also implant a loop recorder until he's a teenager and can have an ICD under his collarbone but we're still undecided though if this is the right way to go so we have some choices to make still. Harper again is different, but adding to the mix that her and Darcie are identical twins makes it even more multifaceted for us and the cardiologists to digest. As identical twins share the same genetic makeup, by default she is expected to have the condition too but her ECG doesn't show the Brugada pattern at the moment, although it does show that she has a bundle branch block which is also prominent in Brugada patients. She's also had a couple of frightful anoxic seizures recently where her little heart and breathing stopped for a while, which was terrifying to witness as her whole body went stiff and her eyes rolled to the back of her head before appearing deathly white and lifeless. Of course, seeing that made me fear the worst and I'm still traumatised after seeing her that way, but whether this type of seizure is related to Brugada is unknown. But it does make it clear, that based on all of this, she is most likely to have an ICD too. It's not really that straightforward and not the easiest to explain to people either when they're all different even though they all have the same mutated gene.

What we do know is that for now, at this time as parents we have some extremely difficult choices to make to ensure our beautiful children are protected from this condition we knew nothing about 11 months ago. We are fortunate as we do have options whether those be short or long term. But what is most likely facing us, is that 3 of our 4 children will have ICD's and lifelong monitoring for all of them. Although upsetting and shocking news to take, we have a hell of a lot to be grateful for and what's important is that the children have each other and us to support them and get through these very difficult times ahead together.