I was diagnosed late last year and am in treatment at Memorial Sloan Kettering with Stage IV Rectal cancer with Liver metastases. I'm 27.
My doctor ran the appropriate tests and discovered I have Lynch Syndrome (https://www.mskcc.org/cancer-care/risk- ... h-syndrome
Initially my doctor wanted to try a curative-intent therapy, so he assembled a team of surgeons to evaluate my case. It was decided they would attempt to resect the primary tumor entirely while preserving the rectum, and a separate operation would be performed to remove about half of the liver. I would receive FOLFOX before and after surgery.
So, I did my first round of FOLFOX beginning in late December until the necessary time before liver surgery in March. Unfortunately, during surgery they discovered metastases in the peritoneum which had not been detected on scans and had to abort the procedure.
After that we resumed FOLFOX although the goal was no longer curative. It was just meant to control the disease. However, my doctor suspected that thanks to Lynch I would a candidate for immunotherapy with pembrolizumab (Keytruda) because it is likely my tumor exhibited MSI-H (microsattelite instability high) in addition to the broken DNA mismatch repair genes from Lynch.
So MSK did their DNA sequencing on my cancer and confirmed my doctor's suspicion as well as cataloging dozens of mutations present which may or may not have clinical significance in the future. Apparently my cancer is one of those with thousands of mutations, much more than normal.
As soon as it was FDA approved in late May my doctor called and told me it was finally time to transition from chemotherapy to immunotherapy. No complaints from me there, as chemotherapy had devastated my health to the point where I needed blood, platelets, WBC shot injections etc. However as soon as I stopped the chemotherapy, all of the worst physical symptoms of rectal cancer manifested themselves again. Apparently chemotherapy had been very effective in keeping that under control.
So, I began the immunotherapy. 30 minute infusion every 3 weeks. Heaven compared to my 8 hour FOLFOX infusion (it had to be lengthened because I developed an allergy to Oxaliplatin that nearly killed me during treatment once.) The first six weeks of being treated with Keytruda saw absolutely no improvement to my condition, in fact it seemed to inflame the tumor and cause agonizing throbbing pain unlike which I have ever experienced for 24 hours a day. The only time I had relief was when I lost consciousness and slept, however briefly. These nearly two months of hell are definitely the low point in my treatment. And then, a miracle happened.
Days after my third infusion with Keytruda I began to see rapid symptom improvement. The fullness in the rectum subsided substantially. I could urinate normally again! (The tumor had been pushing against the bladder muscle making willful urination nearly impossible.) I could sit up for longer and longer periods! I could walk around without pain. It truly feels miraculous. I even returned to work full time this week!
Obviously this is just the beginning, but I guess the reason I am sharing my story now is that even when things look their darkest there is hope. Good luck everyone.