Lynch Syndrome -

I'm sorry you haven't gotten any answers to your question, but I'm not able to help you either.  Have you tried contacting a support group for Lynch syndrome to see if they have any similar situations?  Hoping you get some answers and wishing you the best.

Kim

I was told that my recently diagnosed colon cancer (stage 4) has PMS2 gene mutation and my onocologist recommended genetic counseling to test for lynch syndrome. I'm still on the fence if I want to get the genetic testing done but this is all happening at 40 for me so here is how it started if that helps you.

A few months ago I started getting random abdominal cramps (like a muscle spasm) that would come in waves lasting for a few seconds, and coming every few mins for anywhere from 12-24 hrs and then suddently disappear. No pain sometimes for a few days then suddenly they would come back. Sometimes it would hit me while walking and literally it would stop me in my tracks. No correlation to types of food or when I last ate. Pain was located in the lower center abdomen (navel area) mainly. I would feel a "release" of the pain in the lower right side with lots of loud digestive noises or sometimes with gas or BMs and sometimes could feel bulging in the transfer ileum area as digestion would occur between small/large intestines. I also would sometimes feel a popping sensation in my sternum area which I later learned was from a fully obstructed tumor that was blocking my transverse colon. I had much less pain by eating a low fiber, high protein diet, which actually worked out becuase thats what I am temporarily on anyway during the recovery period from the hemicoloctomy.

Regretably these all tuned out to be signs of the cancer being advanced so if I think back a few years, likely when this would have been much more managable I didn't have any major bowel habit changes, never had any blood (transverse and right sided tumors don't seem to produce visible blood in stool), never had any weight fluctuations, etc. but one thing always stuck out. After eating lunch and dinner I would feel like all my hydration was gone, my hands would get exceptionally dry within about 30 mins of a meal. I told my  doctors at annual visits about this and they always said "that's weird" but never offered an explanation except drink more water, which I always did anyway. Since having the hemicolectomy a few weeks ago I haven't noticed this occuring as much, so who knows maybe it was an early sign or maybe its completely unrelated.

I think the biggest thing for you would be to just make you follow your Dr's recommendations on colonoscopy follow ups. If I had known sooner that I could have Lynch Syndrome I would have been getting scoped regularly to catch this earlier.

In regards to treatment; Because I am MSI-H and since just this year immunotheraphy was approved as a first-line treatment, I'm going to be starting that soon instead of chemo.