Diagnosis: Lynch Syndrome
The good news. I’m able to have chemo #8 today. Only four more to go after this one. I was not sure if I’d be “healthy” enough to receive my poison today. My platelets keep dropping but they were good enough to go today and that’s all that matters.
I got out this weekend and did my longest ride since last June. It was only 40 miles but coming where I was last fall/winter I’m very happy with it. I was not sure if I’d ever ride or run again (and no, that’s not a hyperbolic statement…I was that bad off). I even ran this morning and actually felt pretty good. Things are slowly progressing. I’m so tired of feeling like crap and having chemo brain but this is all part of the process. The process sucks and the “new normal” sucks. But what am I going to do? Sit around and wait? Nope…I’m going to live my life.
Now the bad news. I have Lynch Syndrome. I received the genetic testing results a few weeks ago and it’s confirmed. I’m not surprised about this at all. I pretty much knew I had Lynch syndrome once I was diagnosed. Once upon a time I actually taught medical students (and I will again) and I used Lynch Syndrome as a case study to illustrate why DNA repair is so important to the cell. I could go on for hours about this. It’s a subject I’ve always loved to talk about. DNA repair is what got me into science when I was an undergraduate so many years ago. I’ll keep the basic science out of this post but I will say I think it’s a really cool thing to know and talk about it. I can literally talk about DNA repair for hours and be damn excited to do so.
I’ve always said “data is not the enemy” and I still believe that. So, what does this data mean? I’ll be tested a lot for a few different cancers over the course of my lifetime. I’m fine with that. This is good data to have. I really believe the future of medicine lies in genetic testing and being proactive when it comes to treatment. The reactive way of medicine is so archaic. If I was tested for this disease years ago I would not be sitting in this chemo chair right now.
So what is Lynch Syndrome? It’s an inherited condition that predisposes people to all types of cancers. Which types? A lot, including risk of developing colorectal cancer, endometrial cancer, gastric cancer, ovarian cancer, small bowel cancer, pancreatic cancer, urinary tract cancer, kidney cancer, bile duct cancer, certain skin tumors, and brain tumors. Lynch used to be called hereditary nonpolyposis colorectal cancer (HNPCC) and that name came about since you can have a few or no polyps forming and still get colorectal cancer.
What genes are in play with Lynch syndrome? I’m glad you asked that question (actually, none of you asked that question but I know the answer so I’ll share it). There are four genes that are important for Lynch syndrome and they all have to do with the mismatch DNA repair mechanism. They are MLH1, MSH2, MSH6, and PMS2. In addition, they also test EPCAM which is not directly related to the DNA repair process however, mutations in EPCAM can lead to MSH2 not being properly expressed. (Why all the italics you may ask? Gene names are always in italics. If we were talking about the gene product (the protein) I would not be using italics. It’s a nomenclature thing and IT MATTERS!). A mutation in any of these genes means you have Lynch Syndrome. However, it’s worse to have mutations in MLH1 or MSH2 than say…MSH6. In fact, if you have a non-functional MSH6 your increased chance for cancer is only 16% or so versus a normal person. And this is where I won the genetic lottery. I’m MSH6- and I’m one of those 16%. I have cancer and Lynch Syndrome. This is also why it really has not showed up in my family history. My mother’s mom had gall bladder cancer when she was older. If I had to guess I think my mother’s side of the family is where I inherited this from. It’s not good, but not horrible either. If you are a female with this mutation it’s much worse. Your chance for ovarian and uterine cancer skyrocket.
So what is next? I’ll meet with a genetic counselor and figure it all out so my family and extended family have the information. Like I said…data is not the enemy.
What does it mean for me? By having Lynch Syndrome and cancer it means there’s a 30% chance I’ll have another cancer in the next ten years and a 50% chance of another cancer in the next 15 years. However, those stats are for people that fall in the “Lynch Syndrome” category. It does not break out the increased chances of cancer based upon specific genes. I’ve tried, in vain, to find that data. Still working on that. It’ll be the first question I ask my genetic counselor.
None of this surprised me or scared me. Does it suck? Yeah, it does. However, I’m on the right path to beating cancer and I will succeed in living my life. A healthy life.
