Wednesday, August 29, 2012

The Shit Just Hit the Fan

Those were the words that first went through my head on June 11, 2012...excuse my language. This was the day we found out that mom tested negative for the genetic marker that makes you pre-disposed to the diffuse gastric cancer in my family.

So what does this all mean?

As of today, top researchers across several countries are trying to figure out why my mom is negative. In layman's terms: There was a genetic marker identified back in 2011 when they ran a full genetics sequencing on my cousin, Sandra after she was diagnosed with gastric cancer (the same cancer that took Rajen). From that marker, family members were given a letter to go get tested for this particular marker as it makes you more pre-disposed (around 60-80%) of getting diffuse gastric cancer. If you were positive for the marker, you'd have a very high likelihood of getting this specific type of cancer.

After numerous tests and re-tests, all we know for certain is mom's blood work keeps coming back negative for that marker. They've even search her entire gene for other markers. They've ruled out that it could be a lab error at this point. They are now looking at other theories..all of which are super rare in a situation rare in itself. After all, only about 150 families worldwide have hereditary diffuse gastric cancer.

The research as it stands now

Over the past few months, I've been the unofficial leader of my family to inform them of what this all means. Before, we thought, a negative result for the genetic marker was a good thing and gave us a sigh of relief. But, after consulting with the consortium studying our family's genetics, they said that all negative results are very questionable. The fact is mom has diffuse gastric cancer that perfectly aligns itself to what Sandra had. It would be obscenely weird for mom to just get diffuse gastric cancer just randomly when there's an identifiable marker in the family. As far as we know, it's never happened before and they are all scratching their heads. There are some theories bouncing around that the marker in mom is hiding itself somehow. If that's the case, who knows who else it can be hiding in that's already been tested negative.

My fear...

is for Mandy and I. We are trying to be proactive and researching as much as we can about this. Our futures are at stake. We were both tested negative for the marker last year but right now that means squat We've both witnessed what this horrific disease is capable of from three close family members. And to make matters worse, early detection of this is practically non-existent. By the time you have noticeable symptoms, you're at an advanced stage of cancer and survival rates in the single digits.

My Wish...

is to find answers and hope it's in time. Whatever is going on, it's beyond my control and it's much bigger than I am. I trust in the research.  I don't want to die from this. I don't want to see Mandy die from this.

I don't want Stan or Mandy to lose me from this.


  1. I hope you get the answers soon. Does that mean you'd have to do a scope every few years at some point?

  2. Terrible news ! I hope they figure out why those genetic markers did not show up and what all this means. Maybe this is something that will skip a generation. I sure hope so. We do not want to lose you.