Thursday, May 31, 2012

Genetics Testing

After the inconclusive results from the 1st endoscopy. We scheduled a 2nd endoscopy but the soonest that they could do it was May 15th. I decided that I needed to do more. I contacted the oncology clinic to get mom going on the genetics testing portion. I had already formed a relationship with their genetics counselor and one of their top oncologists (Dr. A) from when I got my genetics testing done a year ago. They were quite familiar with our family history of HDGC.  I explained the situation with my mom's symptoms and how we wanted to do the genetics testing ASAP. Within a day or so, they had gotten all the paperwork together and we went in to get the test done on May 14th.  The test itself is pretty simple...a simple blood draw and they ship it out to a lab in California. Results from genetics testing take about 4 weeks but they said they'd try to rush them due to the urgency.

We also met with Dr. A to get his take on the situation. He said he thought it was the diffuse gastric cancer. Based on that assumption, he ordered a Pet Scan and CT Scan. He didn't want to waste time while the genetics testing was in limbo.

Even though, the news was not what we expected and things began to move fast...I felt that progress was being made..finally! It made me feel good that Dr. A was taking this into his own hands and getting everything set up. He also recommended a surgeon's consult at Abbott Northwestern once we got the scan results back to see exactly what we were dealing with. I cannot say enough about Dr. A and his team. They are great people who genuinely care. They saw the seriousness of the situation and took action. I am thankful for that.

1 comment:

  1. Thank you for sharing your story and the stories of you Mom and Family. I have so much empathy for your situation as I too have the genetic mutation that puts me at high risk for HDGC. Your pictures remind me of my sister and me and my Mom in the 70s, 40 years ago. My own Mother carried the gene and died of stomach cancer at the age of 33. When her sister was diagnosed with stomach cancer and died of it, just 7 years ago, a smart geneticist in Chicago alerted all of us to the possibility of HDGC in our family. After testing, 1 cousin, me, my sister, and 1 aunt were all confirmed to carry the mutation. We all had our stomachs removed about 5 years ago. The pain and sadness I remember watching my Mom die when I was just 8 years old then watching my Aunt die only a few years ago, was terrible and unlike anything life can prepare you for. I will pray for your family and your Mom as you journey through all of this and I hope there is at least a small comfort in knowing that you are not alone in your sorrow.