The World of Science is AMAZING

Being diagnosed with Lynch Syndrome four years ago I'm still in pretty regular contact with the Hereditary Dept at the Cancer Agency. Now that I think about it, I don't know that I've really ever mentioned this diagnoses.......

2 years after being diagnosed with uterine cancer the Hereditary Dept from the Cancer Agency contacted me to let me know that they were now testing anyone that got uterine cancer under the age of 50 for Lynch Syndrome, a hereditary disorder caused by a mutation which individuals have a higher than normal chance of developing certain cancers often more aggressive and often at younger ages. Yes, uterine cancer being one of them.

My Genetic Counsellor really didn't think that I had it just from looking over what we had on file but I said yes and after testing my tumor sure enough the results (after waiting nearly a year) came back showing the mutation genes in MSH6 and MSH2, two of four deletions that are responsible for Lynch Syndrome.

From that point on I have had and will have for the rest of my life annual screening for colorectal cancer (those with Lynch syndrome carry up to an 85% risk of contracting colon cancer). I've already had a hysterectomy due to the uterine cancer but I have bi-annual screening of my ovaries (those were removed on July 9th so that testing is no longer needed).

The tricky part to all of this is the fact that once I was diagnosed it was time to find it in my DNA. Being as it's a hereditary disorder I have a 50% chance of getting from either my mother or father (from the history we've been able to put together we're guessing my mothers line). After two tries both tests came back inconclusive. It was decided that until the wonders of science had more to offer to test all of the Lynch Syndrome genes (currently only had MSH6 tested) we weren't going to get any further.

Fast forward 4 years and I found out at the beginning of the year that there was a possibility that more testing is available for me. On July 4th my sister, Tricia and I met with my Genetic Counsellor to go over my file and family history. In the end I was offered a 68 gene panel testing (wow!) with results in less than 5 weeks. Now remember 4 years ago there was only 1 gene panel available for me and took 6 months for results. The world of science is AMAZING!!

July 31st I had my result given to me over the phone. ALL 68 genes negative. WHAT????? This means that there is no hereditary mutation showing up in my DNA, which is fantastic news for my children, siblings and parents. However, what does this mean? The Genetic Counsellor is now going to request that my tumor be retested so we have two fresh tests to compare (DNA & tumor). Apparently there is a possibility that the tumor created the MMR (mismatch repair gene).

Currently I'm waiting for the thumbs up from the Hereditary Dept that they'll test the tumor. Once that's done we wait again for results. What are the chances that the tumor will do this? 5%. Seriously, I'm one of the 5%?! This still doesn't give my family the clear. We have to wait for the test results. If my tumor still indicates Lynch Syndrome it will no longer me a hereditary disorder where family will have a possibility of a higher chance of developing cancer but they aren't in the norm either but the middle ground. We'll learn more of what exactly that means as more data comes in. So for now everyone is still being treated as though they could have Lynch Syndrome.

Makes me wonder what science will discover in another 5 years!!

I SOOO Don't Like Surgery

My Gynecolost finally had to tell me this past May that being as I've been screen for the past 6 years it's time to make the decision.  Keeping the ovaries and having my family doctor continue setting up the screening or have him remove my ovaries?  Basically, he wouldn't be seeing me anymore.

We knew this decision was coming and..... Due to cyst issues I feel like I'm constantly getting ultra sounds because every time I go in for screening and see something I have to go back in a couple months later.  It's time to remove them.

I'm scheduled for surgery tomorrow and I'm REALLY REALLY dreading it.  I know it's the right thing to do but I hate surgery, more specifically coming out of anesthetic.  It does horrible things to me.  My other fear is what removing my ovaries will do to my hormones.  Instant menopause is kind of scary but if you recall from breast cancer I've already experienced a chemical menopause, still NOT fair but it is what it is.

Recently I've really learned that this is a moment when I need to lean on others Faith to help me get through this okay.

Our plan is to go in Laproscopically BUT there is a chance that I might have to be opened up.  Have a mentioned that I start my new permenanet position with the School District a week after surgery?!  I really really need this to be done Laproscopic.