Tuesday, 20 March 2018

Heart Health update

Some interesting news heart health front today. My results for my genetic testing came in.

Some people may remember that I got some genetic testing done in the later part of last year in relation to my heart and the funny things that it does. The testing was to look for a genetic condition called Arrhythmogenic Right Ventricular Cardiomyopathy or ARVC to its friends. ARVC is a genetic condition that displays some of the symptoms that I was getting and has historically been very hard to diagnose. Up until recently the diagnosis has been done based on symptoms. There is a checklist and if you display enough symptoms it is considered more likely than not that you have ARVC, but that was about as definitive as diagnosis got. Last year I didn't tick many boxes on the checklist, but it was enough to raise concern.

With the advent of accessible(ish) genetic testing they are starting to actually diagnose ARVC in people. They know a number of gene abnormalities that can contribute to ARVC (I can't remember the exact number but I want to say 180ish) and so they can test these genes, which is what they did for me. Genetic testing is a massively time consuming process and so for me they checked about 50% of the known genes and found...


Yep, no abnormalities in those genes outside the norm (everybody has some abnormalities otherwise we would all be clones). So what does that mean?

Well unfortunately there are no certainties with genetic testing unless they find a fault. If they find abnormal genes they can say 'this is mostly likely causing this problem'. However, if they find nothing they simply have to say, 'we didn't find what was causing the problem, but it may still be out there somewhere'. It may be that they didn't test the gene at fault, or it may be that they are not yet aware of the gene that is causing the problem (it is still quite a new field of study). In short, a negative test can't be taken as proof of a lack of problem. Still, for me the upside is that they didn't find the definitive smoking gun. They are very careful to say that doesn't put me in the all clear, but it does reduce the likelihood that I have ARVC. I am happy to take that as a partial win.

To me personally I feel like my heart symptoms have improved significantly in the last 6 months. It may all be in my head, but I have not really been aware of any heart issues since at least the new year. I have made some lifestyle changes in that time and perhaps they have helped, but whatever it is, I am feeling a lot better.

I have some more testing next week and I am hoping that this testing will reflect the improvement in how I am feeling. I am mildly hopeful that some good testing taken in conjunction with the lack of result from the genetic testing may mean things are beginning to look up with regard to the health of my heart.

Fingers crossed. It has been a long road so far and there is a long road to come, but perhaps there is just the faintest hint of the end of the road being in sight.

1 comment:

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