TWO YEARS SINCE GENETIC TESTING

Today is TWO years since we were down at Mayo Clinic, Rochester, MN sitting in the office of Geoffrey Beek, Genetic Counselor.  I remember getting my paperwork from Mayo and it showing that we would have an appointment that would take a few hours.  I thought, “Ya right!  There’s no way this appointment would take a FEW hours!”  Needless to say, I was very wrong.

Geoffrey was amazing!  He told us all about Hereditary Diffuse Gastric Cancer (HDGC) which is the kind of cancer that took my mom’s life and most likely my grandpa’s, too.  (HDGC wasn’t noted into the cancer books until after my grandpa passed, so that’s why I say most likely)  My mom didn’t have genetic testing done, so we didn’t know if she had the mutation or not.  You can still get HDGC and NOT have the mutation.  Because of that, Geoffrey gave me a 25% chance of testing positive for the mutation.  He explained what would happen if I tested positive, negative, or if it came back inconclusive.  I remember feeling mentally exhausted when we left, but at the same time, I didn’t feel like there were any other questions or facts he could have given me.  We left the office to discuss everything…..if there’s only a 25% chance of it coming back positive and you can still get HDGC even without a genetic mutation, is it worth it?, how much was all of this going to cost?, would it be covered by insurance?, what really will I do if it comes back positive (how DO you live without a stomach??)? 

We left Geoffrey’s office, had lunch and discussed that you can’t put a price on your life and no matter what the results we got back were, it would be peace of mind. We stopped at the business office to find out fees and if they allowed payment plans (which they did) just in case it was going to be super spendy (which it was… about $6k without insurance). Then, we called the insurance company to find out if it was covered and how much would be covered (yes, it’s covered…had to meet the deductible first and then we would owe 20%).  We decided with all of that information that it would be worth it to do.  So, we marched back up to Geoffrey’s office and got the orders for the blood work.  A simple blood draw and on our way back to Bismarck we were.

With a seven hour drive back, Sean drove and I did a LOT of research.  I was on Google reading about HDGC and the mutated CDH-1 gene on any website I could possibly find.  After reading for that long, it was a no brainer that IF my results came back positive, I would have a total gastrectomy (complete removal of my entire stomach….even saying that now sounds scary).  I didn’t really have a hunch one way or another with how my results would come back, but I wanted to be prepared.  I had 4-6 weeks to prepare myself for when they called and gave me the news.

After a few weeks had gone by, I felt like I should have heard from them.  So, I gave them a call and the nurse answered.  She told me that sometimes they send a letter and sometimes they call you.  She looked in my chart and said I was flagged to get a call.  I asked, at that point, “Well, what determines if you get a call or letter?” (already knowing the answer) and the poor girl stumbled over her words.  So, Geoffrey called and I found out I tested positive for the CDH-1 mutation.  That gave me an 83% chance of getting HDGC (the same cancer that killed my mom at age 44) and if/when I got the cancer, I would only have a 4% chance of survival.  On top of that, the average age of this brutal cancer was 38.  I was 30 at this point and knew I needed get on this ASAP.

After multiple visits to Mayo to meet with the GI team, upper endoscopies, waiting for the waiting period with my insurance to pass, I had my WHOLE DANG stomach removed.  I was TERRIFIED before surgery, but I KNEW this HAD to be done if I wanted to be around for family & friends.  I now have a 0% chance of getting stomach cancer (so take that, stomach!!!) and for that I am SO grateful!!! I have had an overwhelming amount of support which has been SO helpful and really, living without your stomach isn’t that bad.  It’s, actually, much easier than I ever expected it to be.  Life is different now, but nothing I can’t handle.  There hasn’t been one day that I’ve regretted this surgery and if I had to go back and do it again, I ABSOLUTELY would…hands down, no questions asked!  “The best part about life after surgery is LIFE!”

COUSIN IS TESTING TOMORROW!!!!!

Sending extra thoughts and prayers to my cousin, Stacie, as she has her appointment to meet with a Genetic Counselor and do the testing tomorrow regarding the CDH-1 mutation. 

 You are brave, you are strong, and you are simply amazing for taking these steps to ensure you are here for your family and friends long term. Why would you not be proactive against this nasty cancer when you have every mean to do so?

 I pray your results come back NEGATIVE. HOWEVER, if they come back positive, you've got options which is the BEST part of this whole journey and people here to support and back you!!!

UPDATE GALORE!!!!!

Things have been going very well since my gallbladder attack.  I was given a refill of my gallbladder medication, did an ultrasound which came back clear, and was to do a test to check for sludge.  I opted out of doing the testing for sludge, but if that pain occurs, again, I will schedule for it.  My primary doctor was ok with me holding off on this for now.

I wouldn’t say that I’m tired ALL the time, but I do feel tired quite often.  On top of that, I’m ALWAYS cold!  I am not one to sleep with socks on and over the last 4 months or so, I wear slipper socks to bed.  I checked with my medical doctor who said we could run labs and check my thyroid now or we could wait until I’m due in August, but she’s thinking there’s a good chance it’s just from the amount of weight I have lost (at least for the cold part).  I decided that it’s not that big of nuisance, so I would wait until August.  I did do my own research, though, and found out that I possibly could have a deficiency in my iron and/or B12.  So, I started taking supplements for those two things.  I’m not sure if it’s the warmer weather in North Dakota (it’s going to be in the 70’s this weekend and we’re used to SNOW until May-ish), or taking this supplement, but I haven’t been as cold lately.  The tiredness is about the same, though.

 My aunt is doing well.  She is having a hard time getting in enough food and liquid in a day, but I feel like that’s, across the board, one of the more difficult things for TG patients to overcome.  Why eat when you don’t feel hungry?  So, she’s getting used to that.  She’s sick of losing weight and doesn’t want to lose too much hair which is, also, very common with TG’s.  So, she’s trying to pump extra protein into her body to avoid hair loss and she’s taking biotin.  It seems like she may be focusing a little too much on calories and protein vs. just eating whatever her body will allow and just focusing on eating every 2-3 hours.  Don’t get me wrong, calories and protein are HUGE, but I think those are things to monitor once you have the whole eating every 2-3 hour bit down.  She’s going to be a grandma for the 2^nd time any day so she’s pretty excited about that and I hope that helps to keep her spirits up!  It sounds like she will be going back to work part-time in a few weeks and hopefully that helps her to feel more human, also.  I know the point of going back to work was when I REALLY felt like a normal person ready to figure out my new normal!

There has been some research studies done showing a relation between cleft palate/cleft lip and the CDH-1 mutation.  I didn’t know that a cousin of mine had cleft palate at birth as she is older than I and had her surgery well before I was born.  I haven’t heard too much from her regarding my journey, but definitely wanted to reach out to her as this really could impact her largely.  I, also, did NOT want to step on her toes as this isn't for everyone!!  I started that conversation out by asking if she had followed my blog and wanted to get her thoughts on it.  She said she had been following my journey and after I tested positive AND my aunt tested positive, she had been thinking more on this, but wanted to get info as she wasn’t even sure where to start.  I was able to get her the information to my genetic counselor down at Mayo as well as my aunts in Fargo, ND.  I let her know about the cleft palate-CDH1 mutation connection and that intrigued her.  It sounds like she has scheduled to meet with the genetic counselor and I hope she gets a lot of great information….I, also, hope she tests negative.  HOWEVER, if she does test positive, she’s got options and that’s the BEST part of this journey!!!