Heartburn, and Hives and Stomach aches, Oh my!

For as long as I can remember, I have always been prone to stomach aches, random hives, and heart burn.  I used to just sit around and wait for them to go away.  I would attribute it to eating too much too fast or the wrong thing.   After getting the CDH1 diagnosis, I can’t help but be a little nervous about each stomach ache and heart burn episode.

While I was waiting for the CDH1 blood test results to come back, I started seeing an Naturopathic Doctor to try figure out why I was constantly getting stomach aches since they have been getting worse over the past year or two.  I related it to job stress (even though my job was not very stressful, I must have kept it all inside…get it..haha).  I was starting to think I may have some sort of wheat allergy.  She ran a IgG food sensitivity panel and it came back with surprising results. (Click on it to see it clearer)

My IgG allergy panel

My IgG food sensitivity panel

So basically it’s broken down into sections  Anything in red is something my blood really reacted with and anything green, I’m in the clear.  Clearly, I am sensitive to milk products, whey, and….wait for it…..crab. Who knew? For those of you who know me, know that I LOVE ice cream. So this is a little unfortunate, however, I still plan on eating it…just in moderation now.  Those who have had total gastrectomies are usually sensitive to sugary foods anyways, so this is just another reason to decrease my intake.   The results were definitely not what I was expecting but it’s nice to have a possible answer to why I keep getting these stomach aches.  Eases my brain a little bit.  I will be discussing my results with my Naturopath in the new year.  It’s funny how I started seeing her just as all this was coming about.  She can help me balance my nutrition post gastrectomy as well.  Everything for a reason, right?

She also mentioned that stress can be linked to cancer.  It made me think back to my six years of university, one big board exam, planning a wedding, and buying a house over the past few years.  All walks in the park right?

Needless to say, I started to consider Yoga more seriously soon after the diagnosis.  Haha.

Merry Christmas , Let’s eat!!

I like to eat.   This makes family holiday gatherings even better because I get to stuff myself full of food!  So much food that I usually prepare ahead as to which attire to wear so it can expand as I expand.  This year it will be my red lululemon studio pants…haha.  As I prepare to leave for my first Christmas dinner of the year I start to think about how this one is extra special.   Again, even though the news was negative, I’m going to shed my positive light on it.

Reason 1: This could be my last Christmas with my stomach.  I am thinking my surgery will likely be next year depending on what the Gastroenterologists’ say over the next few months.  I am not sure what I will and won’t be able to eat after my stomach is removed.  Some people can eat or drink whatever they want afterwards. Some people become lactose intolerant. Others can no longer eat spicy food or copious amounts of sugary foods.  So I’m going to eat a lot of everything.

Reason 2: Not only do I get to spend it with my family and friends, I can worry less about the extra calories!!  I need to put on some extra weight before I have the surgery (but from a physio perspective, also need to stay fit!) From what I have read, the average person loses 15% of their body weight after surgery.   Although, I should watch out for diabetes…but then again, I have read that some people who were diabetic, were not after surgery….interesting…

Reason 3: As I mentioned before, the mean age of getting HDGC is 38, there is an age span of 14 – 64 in the literature.  My grandfather died at 30 with it.  I have read other blogs and some people have had their brothers and sisters pass in their 20’s.   I feel very lucky this Christmas to be alive and have this information so I can make a change so I can see many more Christmas’  I’m also happy mom beat the odds and she’s doing fantastic 3 years post op!

So that being said, I want to wish everyone a Merry Christmas and Happy Holidays!

Let’s eat!!

Things I’ve always wanted to do…get a gastroscopy…

At 29 years old, I consider myself relatively healthy.  Minus the fact that I have no sense of smell, I would say I haven’t had anything medically major happen in my life.  Like most people, I was hoping that I would never have this occur.   Soon after I received my diagnosis, that would all change.  My genetic counsellor is awesome and referrals were sent out to the Gastroenterologists in Hamilton, as well as Toronto. My results were sent to my family doctor.  Suddenly, I had a whole team of people rallied up just for me!

The week after I received my result, I received a phone call from the Gastroenterologist’s office at St. Joseph’s hospital to book my gastroscopy.  In case you aren’t sure what this is, it is a procedure where a tube with a camera (gastroscope) is sent down your esophagus to look at your stomach.  The surgeon will also take small biopsies to be tested and examined in a lab.  I am a visual person so I attached a picture (thanks google!)gastroscopyIt was booked for Dec 17th, 2013 – 10:45am.  Nothing to eat or drink after midnight the night before.  Arrange for someone to drive you home. Me being a person who needs to eat every 2-3 hours, this seems like a terrible task. No drinking, not even water?!?!   My mom offered to take me to and from the appointment as I was going to be sedated for the procedure.  I asked the receptionist on the phone if I could go back to work afterwards and she recommended that I take the whole day off.   I understood why when my procedure was over.

When I arrived at the hospital, I filled out the appropriate paperwork and waited in the waiting room.  I looked around and most of the other people waiting there were middle aged, they probably thought, what is this young teenager doing here?  Then I was called in and told to put a hospital gown on.  This whole CDH1 thing was starting to become more real.  I was guided to a room where they administer an IV.  I sat in a chair and looked at the nurse who was administering the IV and realize that she’s our shortstop on my baseball team!  We had a good laugh and then she started asking me questions like, “why are you here”.   This is when I had to explain that I had the CDH1 gene mutation that puts me at high risk for developing HDGC.  Again, me being and feeling super healthy, this is a weird thing to explain.  Getting an IV was not fun, I have bruises to tell the tale.

Once the IV was in I went to the procedure room where I met the Gastroenterologist.  I was lying in a hospital bed, with a pulse oximeter, a blood pressure cuff, getting O2 prongs, with my IV pole.  The oncologist starts taking a family history as CDH1 is relatively new and doctors are still learning about it.  After that I get knocked out and wake up in the recovery room.  Procedure done!

I don’t remember putting on my coat, I don’t remember getting to the hospital lobby.    I do remember meeting my mom after the procedure.   I do remember asking my mom why they took 13 biopsies repetitively when she kept repeating that they took ROUTINE biopsies.  I remember the nurse then telling my mom that I should not walk to the lobby and that she was going to get a transfer chair. I don’t remember getting home or eating lunch.  I now understand what I wasn’t allowed to work after the procedure.

So that’s it!  Now I become the patient patient and wait for the biopsy results. Even if they are negative, which they likely are, doesn’t mean I am in the clear.  But it may mean if cancer is there, it isn’t really bad yet.  I have also been booked for my consult with the Gastroenterologist in Toronto who did my mom’s surgery.  This occurs in March.

Adventure continues!!

Hold on, we’re in for an adventure!

Friday Dec 6, 2013 – Brandon, my mom, my dad, and I sit around a round table at Mount Sinai hospital in Toronto anxiously awaiting for the genetic counsellor to join us.  Brandon playing with a peg game in the room while my mom, dad and I discuss where to eat lunch that day after the appointment.  It’s 11am.   The genetic counsellor joins us at the table.  Mom and Dad have been here before.  This same meeting occurred Sept 29th, 2009 for my mom.

‘We received the results from your blood test and unfortunately, you tested positive for the CDH1 gene mutation’.

Before I go on any further, let me briefly explain what this means.  Everyone has 2 copies of the CDH1 gene.  I receive one copy from my mom and one from my dad.   Dad has 2 healthy copies. Mom has 1 healthy and 1 not so healthy.  This mutation has an autosomal dominant inheritance pattern.  If you think back to genetics 101, this means that mom had a 50% chance of getting it from her father and she did. Bummer.  I had a 50% chance of inheriting this gene from my mother.  For those of you who know of my infamous board game dice rolling skills, I figured I could  control this outcome too and end up negative.  Shockingly this was not the case, proving to mom that I am as much like my mother as my father.   So basically when dad’s healthy gene gets tired and throws in the towel, mom’s CDH1 mutated gene takes over.

The CDH1 gene codes for a product known as E-cadherin.  So why is it important?  From what I understand, this protein is involved with cell-to-cell adhesion.  It tells cells where to go and where not to go.  When there is a dysfunction in this protein the cells have no idea where their boundaries are and they can invade surrounding tissues.  People who have a mutation in this gene have an increased risk of developing hereditary diffuse gastric cancer (HDGC) as well as lobular breast cancer.  What’s the risk?  There is an 83% lifetime risk that I will develop this cancer before 80 (for men its 67%) and a 40% chance that I will develop breast cancer.  The mean age that people develop HDGC is 38 years old.   My grandfather died at 30 with stomach cancer. I’m 30 next year. This is scary stuff!

But Rachel, can’t you screen for stomach cancer?  Yes and no. The most common type of stomach cancer is intestinal type gastric cancer.  HDGC accounts for 1-3% of all stomach cancers.  Most endoscopy’s don’t pick this type of cancer up.  Why? Because it is diffuse and it lies in the submucosal layer of the stomach.  Taking regular biopsies is like finding a needle in a hay stack.  You can be asymptomatic until one day…you feel very ill and then it is too late.  So what can you do to prevent it?  Well, the genetic counsellor has discussed with me , I have been reading many research articles myself and you can prevent it by…..drum roll….removing your stomach entirely! WHAT?? You can live without a stomach.  Yes, many people with this gene have done so and are living healthy lives.  My mom is a prime example.  Is it an extreme measure? I used to think so but I don’t anymore.  When you look at the research, all stomachs that have been prophylacticly removed have been tested and all have come back with cancer in them.   It seems like the obvious decision to make.   As for the breast cancer risk, routine mammograms are still the way to go. Research is limited on getting prophylactic mastectomy at this point for this gene.

So yes, this is scary.  But is it bad.  It could be if you really wanted to look at it that way. But I choose to look at it this way, I have been given a choice.  I tell people I received bad news but ultimately good news. I can prevent getting cancer.  On December 5th, 2013 I had a solid 5 year plan.  On December 6th, everything changed.   This is my blog and my story about living with the CDH1 gene mutation.

For more information on HDGC and CDH1 click here.