NIH appointments officially booked

I have my appt with the NIH June 19-23.  Matt and I will be making a trip out to Maryland to have my consults and we are going to make a vacation out of it. Neither of us have been to Maryland/dc before so we might as well make the most of it.  So we fly in on a Tuesday afternoon, will go get admitted to NIH and then our first appointment will be Wednesday morning with the gastroenterologist, Dr Curtin, and have my pre-anesthesia labs, testing, and such.  Then we will have the rest of the day to explore the D.C. area.  Thursday morning I will have an EGD performed by Dr Curtin where I've been told he will take 80+ biopsies from my stomach, which is significantly more than my GI specialist did here in Phoenix.  Then on Friday we will meet with Dr Davis, the surgeon, and the genetic counselor.  I'm excited to meet with this entire team to get educated on what they know and get more of a glimpse into this study.  It sounds very cutting edge and best case scenario for me and my family.  I'm trying not to get my hopes up as it almost sounds too good to be true.  Only time will tell at this point.

The last couple of months my relationship with food has really changed and it’s kind of a roller coaster ride. Some days I feel I want to be as healthy as possible going into surgery so I should eat well and keep exercising.  Other days I just want to enjoy food while I still can. Who knows what my new body with tolerate post PTG. I am still exercising and feel very confident that I at least want my body to be strong going into it.  I definitely don’t want to lose any weight going in but I also don’t want to gain any either.  Talk about a conundrum.  Which leads me to wanting to have the PTG sooner than later so I can be done with it and move on.  Can I stop making these decisions now...stop adulting for now...and just enjoy life with my amazing husband and wonderful children?

This too shall pass...

Mother's Day

I am so blessed to have such a wonderful family.  I did exactly what I always want to do on Mother's Day....absolutely nothing, nothing except spend time with loved ones.  No cooking, no cleaning, no disciplining, no working.  My awesome husband always does a great job of making that happen.  I can just love on the kiddos when they want it and enjoy our time together.  

We went to my mother-in-laws house for the kiddos to swim and had pizza for dinner.  Which was absolutely perfect.  My sister in law gave me a necklace (I was definitely not expecting a gift from her).  It is Morse code for fuck cancer and I love it!!  I would love to start making them.  I could do necklaces and bracelets.  First, I'de like to make them for all of those who have entered my life, touched me in some way, or inspired me on this journey.  Then maybe I can make them for raising funds for HDGC and CDH1.    

Support

On this day, I was able to meet up with a woman who had her PTG 14 years ago.  At a time where it was more rare than it is today, especially with CDH1.  I thought it was so amazing that a complete stranger was willing to take time out of her day to meet and talk to me about CDH1 and PTG and her experience with it all.  I've really come to understand the close knit community CDH1 patients have.  I've met many people via Facebook who have similar stories and we are able to reach out to for support as we need it.  Which is something I find very comforting.  I'm a big believer in 'everything happens for a reason' and truly believe each one of these people have come into my life for a reason, which I might not be clear on at the present moment.  Anyway, back to the woman I met with today. I don't remember much of what this woman said now (several weeks later since this post is being written on June 7, 2018), but I remember how caring, honest, thoughtful, and sweet she was.  She told me all about her family and her story with CDH1.  Which was all very comforting to hear.  She asked me several questions about my story.  We sat outside on a beautiful day and just talked and even cried.  I do remember when we were parting she said to me "think of me as your aunt Laura, and if you ever need anything please call me.  If you need a babysitter, you have a questions, anything at all, please call me"  This was so sweet of her to say, but I truly did feel close to her after our conversation.

My family always has been, and I think always will be very supportive and I truly love them all for that.  But I get a different kind of support from people who can relate and have walked a similar path.  My situation is a little unique as I'm the only person in my family who knows they have CDH1.  I'm much closer to my mother's side of the family and my husbands family than with my dad's side of the family (which is the side with CDH1).  As you know, I've reached out to his family but haven't gotten much interest in the topic.  Which again...to each their own.  And my brother, at this point in time, does not want to get tested for CDH1.  He has always had a completely different outlook on life than I have, and I will not judge him and will try to support him in his decision.  He does not have any biological children, so he doesn't need to find out to see if it affects them.  But he does have a wife and 2 step-children to care for and worry about.  But I digress...so, I'm really cherishing the little CDH1 facebook community.  So thank you all for being so supportive, compassionate, and kind.  And of course thank you to all my family who have supported us in their own unique way and will continue to stand right beside us on this crazy CDH1. Love you guys

Surgeon Hunt

This has been a very busy week. We consulted with two surgical oncologists which I will go into a little bit of detail about in a bit.  Then we made a trip to Tucson to get our taxes done. I know that sounds weird...why travel to Tucson to do our taxes. Well, we really like our tax lady, don’t want to switch, and we like to make a mini trip out of.  And get in more on the details of that as well.

Okay, so first surgeon at Mayo Clinic here in Phoenix was nice and very knowledgeable.  He went into a pretty detailed discussion of what the surgery will entail and such.  Answered all my questions and then some.  However some of his statistics for complications such as anastomoses leaks and strictures were not up my standard.  And maybe I’m focusing too much on those stats but I want this done correctly the first time.  I have no doubt he is a good surgeon but I don’t think he’s the surgeon for me.

The second surgeon is at MD Anderson here in Phoenix. We liked him better than the first one.  Was just more personable and seems super intelligent.  However, his stats were about the same as he first surgeon and not up to my standard. So again I don’t feel he right fit for me even though I’m sure he’s an excellent surgeon.

Okay, now the fun stuff. We took the kids on a little road trip to Tucson to get our taxes done.  On the way down, we stopped at the Ostrich Farm! We’ve driven by this place hundreds of times coming to and from Tucson, but have never been. So this time we decided to stop as we thought it would be tons of fun for the kiddos.  Well let me tell you, they had a blast.  They have all sorts of farm animals including donkeys, goats, bunnies, birds.  And you get to feed all of them!!  We all had so much fun. 

Okay, I’m almost done. I told you I had a busy week.  Haha 

So, I recently joined a group on Facebook specifically for people who have been impacted by CDH1.  This group has been an amazing support for me on this journey.  I just got a message today from a guy who has been seen at the NIH in Maryland  by a surgeon who has an open study for CDH1 patients. Well, it’s for genetic gastric cancers and HDGC, but he is very interested in CDH1.  This is kind of exciting to find out about this.  Like almost surreal that I’m even in the know. I feel pretty amazing about it right now. It would be so awesome to go somewhere with such cutting edge information and also be apart of making the future better for anybody with CDH1 including my kids.  And to top it off not have to worry about the financial burden of treeatment and eventually surgery.

Okay, I’m done for the day.  See ya soon

RANT - sorrynotsorry

A few weeks ago, I reached out to my aunts and uncles (on my dads side of the family) to let them know this could affect them and their families.  Out of the 5 of them, not one has responded. I would just hate for somebody else to get this awful stomach cancer when it could have been prevented had they chose to.  And I was hoping they would want to make informed decisions regarding this potential risk.  Since they didn’t respond I feel the obligation to reach out to all my cousins, which I did today. I got a couple responses right away, which I am feeling good about.  One cousin said she is going to get tested as soon as possible while her brother is showing interest in getting tested as well.  This isn’t super impressive as I have dozens of cousins on that side of the family. But maybe the 2 interested cousins with get the ball rolling and the others will realize they might want to know more about this.  Maybe they want to know that if their parents (my aunts and uncles) have CDH1 they have a 50% chance of having it.  And if they have CDH1 they have a very high risk of getting HDGC (hereditary diffuse gastric cancer).  And if they do get HDGC it will not be detectable until late stages and is very difficult to treat.  And if they have CDH1 each of their kids have a 50% chance of having it.  I don’t know, just something I would definitely want to know about if I were in their shoes.  

Again, I don’t want a pity party, I just feel responsible for informing them, so they can then make the choice for themselves.  It’s difficult to make choices about things you know absolutely nothing about.

Okay, rant over. I apologize for rambling there. Just get kind of worked up when thinking about the family members who I don’t think understand the severity of this genetic mutation.  Thanks for listening and have a good night 😉

EGD and COLONOSCOPY

A couple weeks ago, we met with our second gastroenterologist. He is kind of quirky but seems very knowledgeable and confident in his practices.  He said he will do excavative biopsies and take about 30 biopsies.  He too said I need to have the PTG as soon as I am comfortable doing it. He does not feel I need to rushed into making her decision either.  Obviously he knows it is my choice to have the PTG or not, but since he knows I’m on board for it, he agrees it needs to be done.  He also convinced me to do a colonoscopy since they don’t know for sure about the link with colorectal cancer and this gene.  And it will be a good baseline.

So today, I had my EGD and colonoscopy.  Everything went well. They found a polyp in my colon which they removed and sent to pathology.  I’m a little anxious about that one, but only time will tell.  Dr stated he did 15 biopsies, which I’m a bit upset about. Because that is half of what he said he was going to do. He did say everything looked really good in the stomach and maybe that’s why he decided to do less biopsies.  But this tells me he doesn’t fully understand this gene mutation. 

1st GI consult

 In anticipation of my appointment with a gastroenterologist, I was feeling a bit anxious, as I have no idea what experience she has with this gene.  The idea in my head is that it doesn’t really matter how much she knows about it, she can still perform my EGD and follow the guidelines by doing a ton more biopsies.  She came very highly recommended by a couple people and they are confident if she doesn’t know about this she will advocate and research for me.

Well, Matt and I were very underwhelmed after meeting with her today.  She has never heard of this gene mutation and shows no interest in trying to figure it out with us.  She, like everybody else, was shocked that they are recommending a PTG and suggested getting a second opinion (which as you know from a previous post we have done).  This Dr is close to our house so I figured at least she could do my EGD so we wouldn’t have to travel as far.  But after meeting with her we just did not have a good feeling about it and decided to just make the drive for somebody who has actually had patients with this gene mutation.