While many of us were contemplating what we are thankful for this Thanksgiving, Jessica MacKenzie was just thankful to be alive and well.
“I’m just thankful that I’m cancer-free and that I’m helping to spread awareness for this deadly disease,” she said.
MacKenzie was recently diagnosed with a rare form of stomach cancer called Hereditary Diffuse Gastric Cancer. According to the No Stomach For Cancer organization, this particular form makes up only 1 to 3 percent of all stomach cancer cases. Although it is not very common in the Unites States, it is the second deadliest cancer worldwide.
A Rough Realization
Had you met Jessica MacKenzie over a year ago, you would have met a typical Virginia Tech sophomore with no worries about cancer. When MacKenzie returned to her home in New York for winter break in 2011, however, everything changed.
MacKenzie lost one of her aunts to gastric cancer in 2010, but at that time, the family had no detailed knowledge of HDGC. Through death came awareness.
In September 2011, MacKenzie’s father, Bob, was tested for the CDH1 gene mutation that causes HDGC along with his two remaining siblings and his mother. All came back positive except for one of his siblings. Afterward, Bob MacKenzie, his sister Debi and their mother were diagnosed with HDGC.
When Jessica MacKenzie went home for winter break three months later, she was filled in on the family’s genetic discovery. They had waited to tell her so the news would not affect her performance on her final exams.
“I knew right away that I wanted to be tested for the mutation,” MacKenzie said.
She returned to Tech for spring semester, however, and waited until this past summer to be tested. In June of this year, MacKenzie learned she had tested positive for the CDH1 mutation.
“I was a lot more relieved when I tested positive,” she said. “I didn’t want to live in the dark anymore.”
A Detrimental Disease
HDGC is caused by the CDH1 gene mutation. This gene encodes for the protein E-cadherin, which normally allows cells and tissues to adhere to each other. The mutation of this gene causes a disruption in the protein’s function, which often results in cancer. Currently, it is still unknown exactly how the CDH1 mutation causes gastric cancer.
HDGC is difficult to detect because it does not form a visible mass. Instead, the cancer is diffused amongst the stomach lining, making it difficult for an endoscope to detect. Many cases are not discovered until the cancer has reached a later stage, and sometimes it is discovered too late.
Female carriers of the CDH1 mutation also have a 60 percent lifetime risk for lobular breast cancer.
The only current cure for HDGC is a gastrectomy, the total removal of the stomach. MacKenzie’s father, aunt and paternal grandmother had their stomachs removed in March.