Category Archives: Genetics

I’ll rise up, and I’ll do it a thousand times again. 

It’s been a while since my last post. I’ve been so emotionally drained that I haven’t been able to bring myself to write. With that being said, I have updates. Lots of updates. 

I finally recieved my genetic results. It was found that myself and my mother have a variation in the ANK2 gene. This gene is associated with various problems of the heart. The specific variation found is “of unknown significance” meaning they don’t know if it is causing my issues. 

Only one other person had this specific variation and they died in their early teens. It wasn’t the best news, but it certainly wasn’t the worst. The good thing about it is that the actual gene is known and for the most part, understood. 

In order to help them pinpoint if it is what’s causing my issues, they are going to test more family members. They will test the females with heart issues and the males with no heart issues. If the females test positive they can say “ok, this is probably causing the heart issues in the family”. If the males with no known heart issues test negative then it will be reassurance that the mutated gene is in fact the trouble maker. 

With that being said, because the gene is known, I am being sent to a genetic cardiologist that has experience with it. I’m very interested to hear what he has to say. In the meantime I also met with another electrophysiologist who has a plan. He wants to start by changing my medication. In order to do so my liver has to be cleared first, so I’m set to have a biopsy done. The new medication metabolizes primarily in the liver so they need to make sure mine can handle it. 

He also wants to go back to my original diagnosis of Brugada Syndrome. He wants to go in and look at the surface of my heart to study it for common problem areas associated with brugada’s heart rhythm disturbances. 

He had a lot of confidence. That’s what I needed. I also needed to hear that there were more options. I’m still holding onto hope that there might be more effective treatments for me. 

While waiting for all my upcoming appointments my 8 year long nightmare came true. This past Monday my heart finally needed to use the device I’ve been so terribly afraid of since it was put in. 

Why am I afraid of it? I didn’t know what it would feel like, if it would work, what I would be doing when it happened. Let’s face it, I was afraid that my heart would ever put me in a life threatening state in which I would require a shock. 

I was leaving my house to go to a friends, it was in the evening after work. I got into my car and started to feel my usual symptoms, shortness of breath, palpitations, and chest tightness. Only this time it felt very intense. I felt as though I was about to pass out and I felt it in my bones that I was in trouble. I picked up my cell phone to call my mom for help. The phone rang twice and suddenly I was hit with this very quick, intense pain. My body jerked forward and I let out this noise as if I was punched in the stomach. The only way I can describe it is that it felt like a bomb had detonated in my chest. It took me a little while to realize what had happened. When I finally came to the realization that my defibrillator went off I was petrified and hysterical. 

I ran inside and was trying to tell my mom but I couldn’t quite get the words out. I felt weak, dizzy, and my chest and back hurt. My mom called 911 and I was brought to the hospital. When my device was read it confirmed that I was shocked. My heart rate was going between 200-250 beats per minute for 24 seconds. It showed that the pacemaker tried to pace me out of it a couple times but when it failed the third time it recognized that it needed to deliver a shock. 

It saved my life, and will most likely save my life again. I couldn’t be more grateful for that. But it sure did throw me into heightened anxiety and a bit of depression. It has really been a tough week. I’m scared. I’m truly scared. It’s a reminder of how serious my condition is. But it’s also a reminder of how precious life is. Although I’ve been down in the dumps, I have to move on from this in order to have and maintain a good quality of life. It’s there to protect me, and it did its job. 

Until next time, love your heart and live your life! ❤

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