I finally got the date of my procedure. It’s continued to be a struggle, but I will say I’ve had a few good days in between the bad. It truly makes me appreciate the small things in life. I still can’t drive, so my brand new car is just sitting in my driveway. There is a plus to that though, it’s staying brand new ;). I’m starting to get nervous about the procedure, but I’m equally as excited. If this works I’ll be forever grateful.
The good news is, I’m going to see my geneticist this coming Friday. Initially, in 2009 when I first started having heart problems my diagnosis was Brugada Syndrome. My EKG showed signs of it and that’s why I had the defibrillator implanted. I went years without problems after that. I’d have occasional flare-ups but nothing that wouldn’t go away on its own. My heart problems started to get worse in April of last year. More hospital stays than ever, flare-ups that were longer and more persistent, resistance to medications, and my un-diagnosis.
In November of 2014 I was having abdominal issues which led them to find I had an enlarged liver and spleen. I then went to see a surgeon, he sent me to hematology/oncology, and from there to a geneticist. Then the genetic work up ensued. There were a few diseases that would have explained all my symptoms, diseases that would have tied everything together. I tested negative for all of them. In the meantime, the heart docs “un-diagnosed” me with Brugada Syndrome.
Since then we’ve been trying to get insurance approval for whole exome sequencing (WES). This test will look at all five thousand known genes. It will look for mutations between my mother, father, and me. It’s all quite interesting to me. This will be the test I’ll have this coming friday. I’m hopeful this will bring answers to my medical mystery. unfortunately, nothing is guaranteed , and the test will take months to come back.
My fear is that they won’t find anything, or worse, they will find a new mutation they know nothing about. I’m so incredibly curious though. This has been going on for so long now and I am more than ready to get a diagnosis. Some people say “just live your life, you don’t need to know”. Yes, that’s a good way to look at it but what if there is a treatment? Wouldn’t I want to know? The unknown will kill me before any disease does and thats just the type of person I am.
I’d also like to know what my future holds. I’ve already had to come to the realization that I probably won’t ever have kids of my own. I’ve accepted a new career path incase I can’t be a nurse. I’ve realized I can’t do many things. It’s not that I’m giving up, I’m just finding a new way to live. It’s not just me, its my family too. I’m not the only one with health issues, heart problems run rampant on my mother’s side. A diagnosis will give me hope, it will give my family hope and I think that’s what we need.