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“Sometimes the bad things that happen in our lives put us directly on the path to the best things that will ever happen to us”

December 5, 2013 – My husband, my mom, my dad, and I sit around a round table at the hospital waiting for the genetic counsellor to join us. My husband is playing with a peg game in the room while my mom, dad and I discuss where to eat lunch that day after the appointment. It’s 11am. The genetic counsellor joins us at the table.

‘We received the results from your blood test and unfortunately, you tested positive for the CDH1 gene mutation’.

At 29 years old, I had a solid five year plan. On December 6th, all of this changed. Missing Cytosine…frameshift mutation…risk of hereditary diffuse gastric cancer.

My name is Rachel and this is my story about living with Hereditary diffuse gastric cancer syndrome. Cytosine Deleted – Life with the CDH1 genetic mutation
April 2014