Raising Awareness and Funds for CDH1 Research

In our last post we talked about how our focus has shifted to raising awareness and funds for CDH1/Hereditary Diffuse Gastric Cancer research. Our biggest hope is Dr. Parry Guilford, a researcher in New Zealand who is working on a drug that would be taken every 2-4 years to kill off early cancer cells in the stomach, meaning a prophylactic total gastrectomy would no longer be the course of preventing HDGC in people with CDH1 mutations. We have three little boys who have a 50/50 chance of carrying our same CDH1 mutation and in about 7 years the first of these boys will be tested to see if they are a carrier. While we are so grateful we had the option of removing our stomachs when we found out about the mutation, we obviously want better for our children. Dr. Guilford is confident in the research his team is doing and truly believes our children will have better options than we had. It takes a lot of money and time to bring a drug to market, so we want to help provide funds for this project and also let the world know about advancements taking place in this field.

Thanks to my talented cousin-in-law Kristi Sasser we have a great t-shirt designed and we are ready to start taking orders! Here is an image of the shirt and it will be on a periwinkle, Gildan brand t-shirt since perwinkle is the color associated with gastric cancer awareness. We love the seahorse image, as the seahorse does not have a stomach and sustains itself by eating round the clock, just like us! The cost for the shirts is $15 for sizes Youth XS – Adult XL and $17 for Adult 2X & 3X. For people in the Birmingham, Hartselle, Tuscaloosa and Talladega areas we can arrange a time to meet and distribute shirts, but we will also offer shipping for a flat $2.50 rate. Payment can be made to myself or Nicole via cash, check, or PayPal. We will take orders from now until Wednesday, October 19th and we will need payment to be in by that date as well. The shirts should be ready for delivery by Monday, November 7th.  You can order by commenting on this post or by emailing me directly at jessica.j.sasser913@gmail.com. Please let us know what sizes you need, if you will need your shirts shipped and how you would like to arrange payment. All of the proceeds made from the selling of these shirts will be sent straight to Dr. Guilford and his team at the Center for Transitional Cancer Research at the University of Otago.

We are so excited about our first fundraising project and hope you all love the shirt as much as we do and support this effort. Please don’t hesitate to reach out to me or Nicole if you have any questions about the shirts or ordering.

Four Month Update, Faith, and Our First CDH1/Stomach Cancer Fundraising Project

Here we are, four months post total gastrectomy. I know for my part I am amazed at how much life has been returning to normal over the past month. It feels like each week and each month things get better. Our families are planning a Christmas cruise to the Bahamas and we are so looking forward to sun, relaxation, and swimming with dolphins. Who would have thought we’d be planning a cruise six months after having our stomachs removed?! I celebrated my 32^nd birthday over the weekend and I reflected on how much has changed in the past year. Last September we’d never even heard of CDH1 and within a year we discovered we carried this mutation and had prophylactic total gastrectomies. This time next year we will be even further down the road and adjusted to this stomachless life.

                                                                                                           

If you read our 3 month update then you know we were each experiencing some complications. Nicole’s incision has been a big problem for her. It would never fully close at the bottom and she’s had several procedures done in the doctor’s office to try to stimulate the incision to heal, but nothing was working. Nicole got our surgeon in Houston involved and after hearing her symptoms and seeing pictures of the incision he felt the best course of action would be for her to have another surgery to excise the wound and have a wound vac placed. He felt that it would heal within a matter of weeks if this route was pursued. Our surgeon here in Birmingham didn’t really want to perform surgery or insert a wound vac because he thought it would be hard on her. Naturally this has been a very frustrating situation for Nicole. Of course no one wants to go through surgery, but it’s been over 18 weeks since surgery at this point and not being totally healed is preventing her from doing things that she needs or wants to do. One thing we’ve learned from this whole experience is that we have to be our own advocates and push for our own care sometimes. Nicole has stayed on top of the problem and been in constant contact with both doctors’ offices. After another check-up, removal of debris, and CT scan, our Birmingham doctor has finally decided to move forward with surgery. She will undergo this procedure next Wednesday, September 28^th and the hope is that this will put her on the path to finally healing. 

I had an esophageal dilation performed on August 19^th to repair a stricture. While that dilation did improve my ability to eat, it also opened up the passage for bile to start coming up. For the first two weeks after the dilation I had persistent nausea, a bad headache, and my mouth tasted disgusting all the time. When we went in for my second esophageal dilation on September 2^nd it was determined that I was experiencing bad bile reflux. I was placed on Xifaxan for 10 days to kill off any bacteria that may have been in my gut and I was given a tip that has made all the difference for me, add acidic foods and drinks to my diet. Bile is alkaline based and since I don’t have a stomach to produce acid anymore I can become too alkaline. We may need to buy stock in Tropicana based on how much Trop50 orange juice I have been taking down recently! Since the second dilation my nausea has been much, much better and I have been able to eat very well and have even gained a few ounces back. I am meeting with a GI specialist in two weeks to hopefully try some meds to help with the bile and then I will have one last esophageal dilation at the end of October to make sure my pipe is staying open.

It’s no secret that our faith in God and belief in His perfect plan has been what has sustained us through the early days of diagnosis and the surgery and recovery. I was asked to tell my story at church a few weeks ago and wanted to share that with anyone who may stumble across this blog: https://drive.google.com/file/d/0ByoYyITMwrkgekR4NTZkdktBdU0/view. Psalms 139: 13-16 tells us “For You formed my inward parts; you knitted me together in my mother’s womb. I praise You, for I am fearfully and wonderfully made. Wonderful are Your works; my soul knows it very well. My frame was not hidden from You, when I was being made in secret, intricately woven in the depths of the earth. Your eyes say my unformed substance; in Your book were written, every one of them, the days that were formed for me, when as yet there was none of them.” Our CDH1 mutation was not a shock to God. He knew from the beginning that this was part of us and He knew that if we would trust Him then this could be used in a magnificent ways for His glory.

Now that our surgery is behind us we want to turn our attention to raising awareness and funds for CDH1 and hereditary diffuse gastric cancer. Our hope is to one day have an annual walk to raise money, but our recovery just does not allow for that this year. But thanks to my fantastically talented cousin-in-law Kristi Sasser we will be selling a specially designed t-shirt and all the proceeds will go to Dr. Parry Guilford. Dr. Guilford is a genetic researcher in New Zealand who discovered the link between the CDH1 mutation and hereditary diffuse gastric cancer and lobular breast cancer. He is currently working on a drug that would be taken every 2-4 years to kill off early cancer cells. Here is a great article that explains the drug: http://www.stuff.co.nz/national/67457475/otago-researchers-identify-drugs-to-beat-hereditary-cancers. In the next 10-15 years Caden, Liam, and Andy will be tested for this mutation. Our hope is that if any of the boys carry this mutation they will have the option of taking this drug instead of having to undergo a total gastrectomy like we did. We will post the design and ordering information very shortly and we hope you all will support this endeavor!

3 Months Post Op and Bumps in the Road

We are officially 3 months post total gastrectomy! For the most part the past month has been good, but we have each had a few bumps in the road.

Nicole has had a lot of problems with her incision. It would never fully close at the bottom and was leaking a lot. A few weeks ago she went to our Birmingham doctor to get it checked out and they found a few inches of knotted sutures that her body had not absorbed. They cleaned it out and packed it with the hope it would heal and close. Thursday the area opened back up and tissue was visible in the opening. Nicole spent all day Friday  at the UAB ER and there was some fear that an abscess had formed. Luckily a CT and blood work ruled out an abscess, but they did have to open up the area, clean out what was there and pack it tightly. She will have to keep it packed for the next two weeks and then go back to Dr. Heslin to have it evaluated.

I had finally gotten over my bad nausea spell and was rocking along and then I started having trouble eating. Whenever I would start to eat the food would get stuck and I'd have to bring it up. I was also having chest pain in the general area where the esophagus and small intestine were sewn together. A swallow test confirmed that I had a stricture, a narrowing at the anastomoses. Yesterday I had a procedure called esophageal dilation performed. It's basically an endoscopy where they use a ballon to open up the narrow area. Dr. Ahmed showed us some images after and it was definitely very narrow and my internal sutures had trapped food in the anastomoses. The bad news is that strictures tend to return several times before the area finally stays permanently open, so they want to aggressively treat me. In two weeks I will have the dilation performed again and based on the narrowing over the two week span they will determine how often this should be done. There is also a possibility of them having to place a short term stent at some point to hold the area open.

With a surgery of this magnitude I think some complications are to be expected, so we are really trying to not let these issues get us down. They are small bumps in the road and we have a great medical team working to resolve them and get us back on track.

Update: Two Months Post Op!

It’s almost hard to believe that we are 8 weeks post total gastrectomy. In some ways the past two months have crept by, but in other ways it feels like just yesterday we were in the hospital!

Life has definitely changed over the past two months, but overall it seems as if we are both starting to settle into our new normal. I went back to work this week and I’ve been surprised at how well it has gone. I have a desk job and actually work from home three days a week, so it’s really easy for me to graze all day. I’ve been a little tired by the time I reach the end of the day, but nothing unmanageable. Nicole has been able to go to school and work in her classroom some and will start back on August 5^th. As a teacher, I know it will be a little harder for her to be able to eat throughout the day. Nicole and I have both had our first B12 injections and that seemed to help a lot with energy levels (B12 is the only vitamin fully absorbed in the stomach, so we will have to supplement it).

So what hurdles and issues have we faced the past month? Around the 5 week mark I did have a week of severe nausea and trouble eating. We did some tests to rule out major complications and overall the determination was that I “hit a wall” and my new set-up just needed a rest. After a few days of liquids only I was able to start adding foods back in and have had no real trouble since. I do still have small waves of nausea, but usually it’s because I am hungry and once I eat it passes. We both still have times where we either eat a little too much or certain foods don’t agree with us and we get discomfort. Usually laying down for a little bit helps this pass. Our bodies are pretty quick to let us know if we eat something that doesn’t agree with our new set-up. What we have discovered too is that one day we will eat something and be totally fine, but the next time we try it we may have problems. Case in point: I ate a Krystal chick sandwich one evening and was fine, a few days later I had one for lunch and was dry heaving in the parking lot after. Another issue we deal with is making sure we take small bites and chew well. If we don’t do that then food becomes stuck in our chest and it’s very painful, it feels like you can’t breathe and we have to go to the bathroom and get the food up. The last thing of note is our hair, which has been falling out and breaking like crazy. This is mainly due to nutritional deficits and most people say this should subside within six months of surgery.  What’s odd is how the texture of our hair has changed, my hair dresser even made a comment about it the other day. I usually have oily hair and if I don’t wash it every day it looks like I just poured grease on it, but now I can get away with not washing it every day and just using some dry shampoo. Nicole actually decided to combat the loss and went ahead and got a sassy new short-do! This is all a learning process and really every day, every week things get better.

So now the good stuff, new foods! We are getting braver and trying new things all the time. Some highlights of the past month: Reese pieces, peanut and peanut butter M&M’s, Dipping Dots, Mexican pizza from Taco Bell, cheese dip at Mexican restaurants, Subway sandwiches, Sonic cheese fries and cheese tots, shortbread cookies, s’mores (this was Nicole and she took her time, it took about an hour to finish it, but no dumping syndrome!), Mata’s pizza, and jambalaya. I still get a little nervous trying new things in public, like at restaurants, just in case it doesn’t it agree with me. Also, for both of us it seems like our weight loss has really stalled. In the past eight weeks I’ve lost 25 pounds and Nicole has lost about 10 pounds (she’s a total rock star).

We are now shifting our focus to raising awareness and money for CDH1 research. We are constantly reminded that in a decade we will be testing our children and they will face decisions if they do in fact carry this mutation. Our hope is that they have better options for screening and prevention and don’t have to go through a total gastrectomy. We are currently looking into setting up a walk to raise money for early November and will hopefully have some details on that soon.

As always, we are so grateful for all the prayers and acts of kindness that have been given to our families the past two months. Even though we are two months out, we are still very much in the early stages of healing and we know your prayers will carry us through any bad days we may encounter. Every day we are reminded of how precious life is and we are so thankful we have a chance to play with our kids, be with friends and family, and just live. Through our blog and connections in the “stomachless community” we have met several people who are actually about to have their gastrectomy surgeries in the coming weeks, so we ask that you keep those families in your prayers as well. 

1 Month Post Op

Hi, everyone! I'm Nicole, the other sister. This will be my first blog post...ever. It has been one month since my sister and I both underwent total gastrectomies in Houston, TX. It is definitely an adjustment, but we are both doing exceptionally well and getting better every day. This was definitely the hardest thing I've ever been through. It was physically hard, but I was an emotional wreck the first two weeks. No one had prepared me for that part. I think this was mostly in part because I had never been away from my children that long. As hard as it was, I know we made the right decision to travel to TX for the surgery. We had a wonderful surgeon and MD Anderson is a great hospital. A few days after leaving the hospital, we received our pathology reports. My sister had one spot of submucosal cancer and I had ten. So, technically we were both diagnosed with Stage 1 Hereditary Diffuse Gastric Cancer. They took my appendix, gallbladder, and ten lymph nods during the surgery and thank God, they were all clear. Our doctor said no further treatment is needed. Those first few days after surgery, I had questioned whether or not I had made the right decision, this was total confirmation that I had. Having my sister go through this with me has made the experience so much more bearable though. We text or talk daily about how we're feeling and give each other support and encouragement when one of us is having a bad day.

When they say everyone's recovery is different, they mean it. I had trouble with nausea the first couple of weeks, but  have only had a couple of bouts of it in the past two weeks. Jessica was just the opposite. She had no nausea to begin with, but has struggled the last couple of weeks. She told me this morning that it was the first morning she hasn't been nauseous in a while, so hopefully she's getting better. We both have trouble eating very much in the mornings and find it much easier to eat after 11:00 am. The eating around the clock does get annoying, but I'm getting use to it. I am finding that the amount of food I can eat at one time is increasing and there are actually a lot more things I can eat than I had anticipated at this point. I went to the movies with my husband and our five year old the other night and ate six handfuls of popcorn. I really surprised myself and it felt great to think that I will be able to go watch a movie and have popcorn with my kids like normal! Maybe one day I will be able to have a soda too! I have really been missing my sweets and I haven't been brave enough to try anything with much sugar in it yet. I have found some great recipes that are made with Splenda though and I am starting to try those out.  I am able to get out of the house for a few hours at a time now, but I do tire very easily. I have noticed an increase in my energy the past week though. I'm taking vitamins daily and I will have my vitamin d and B12 checked tomorrow. I also get my feeding tube out tomorrow and I am super excited about that! It has hurt way more than my incision site. My sister had some trouble with hers this week and got hers out a couple of days early. She said it felt better right away and the hole closed up in 24 hours.

 I am starting to settle into my new stomachless life pretty well. I've heard someone else say this, but it is so true, the best part about life after TG is LIFE. We feel that we are truly blessed that God revealed this to us and that we were able to have the surgery and totally eliminate the cancer before it spread beyond the stomach. We were given a second chance that our beautiful mother didn't have and we are so grateful. We appreciate all the prayers, texts, calls, cards, gifts, meals, and support you have shown us. We have felt your prayers and God's hand throughout this whole process. Please keep praying our recover continues to go well.

Post Op Day 4

So we are now four days past our total gastrectomies. Wow! The past few days have definitely had some highs and lows. For the most part we have met or exceeded the expectations of the doctors and nurses. Day 1 wasn't all that bad and several times we commented how it wasn't as bad as we thought it would be. Day 2 and 3 were different stories and we each struggled with different things. For starters, our bladders were very slow to wake up and we had to be re-catheterized in the wee morning hours Thursday. Our catheters came out again Friday afternoon and Nicole's was working early on, but mine decided to wait until 30 minutes before the deadline to start working. Nicole has struggled with nausea from the tube feeds and her formula amount had to be adjusted down. So far I've tolerated the tube feeds well, they just leave me feeling very full and bloated so I haven't taken much in orally. Sugar free Popsicles and decaf ice tea have been my go to the past few days. I can finish a whole Popsicle and about 3 ounces of tea or water. My main problem was (gross alert!) getting my bowels moving again after surgery. I wasn't passing gas or anything else and as a result I was so bloated and miserable. Thursday was awful and on Friday morning they gave me some meds that helped a little that morning but didn't last long term. But finally around 2am this morning everything woke up and I've passed what they wanted me to and I have felt much better. We both have a lot of weakness and fatigue, but we expected some of that. We're both also really struggling with missing our kids. They're having fun and are well taken care of, but we still would give anything to be home with them. We were hoping to leave the hospital tomorrow (Sunday) but because of the long weekend it may be Monday or Tuesday. Please keep all the prayers coming, they have been greatly felt and are deeply appreciated. 

Here We Go

When we set our surgery date in April, it seemed so far off. May 24th was circled in red in the distant future. But this day arrived a lot faster than any of us thought. We arrived in Houston last night and were at MD Anderson bright and early this morning. Nicole went into surgery at 7am CST and I am scheduled for 1pm CST. 

We have both been so calm and at peace leading up to today. With all of the information given to us, we know that we have made the best decision. We have also been covered in prayer by so many people, and we truly believe in the power of prayer. We can never express how much each prayer, hug, encouraging word, and note has meant to us. 

We will keep everyone posted on our progress in the days to come. 

"This is the confidence we have in approaching God, that if we ask anything, according to His will, He hears us." 1 John 5:14

The Mechanics of It All

I’d like to begin by saying how blown away we have been by the response to our last post. Every single comment has been read and taken to heart and we are beyond grateful for all the prayers being said for us and our families.

We have had so many questions about surgery and life post total gastrectomy, so I wanted to take some time and explain the procedure, recovery, and what we are expecting afterwards.

Total gastrectomy is the complete removal of the stomach organ. The term prophylactic is attached to our procedure because it simply means it is being done as a preventative measure.  We spoke with three different surgeons before deciding on Dr. Mansfield and realized there are several different methods that can be used to achieve the end goal. For the purposes of this post, I will focus on Dr. Mansfield’s method for performing the operation. 

Here is what our stomachs currently look like:

Our doctor uses kind of a combo approach to this surgery. Laparoscopically he will go in and prep for the big separation, he mobilize the stomach, divide the duodenum, and work on the blood supply. Nicole will also be having her appendix removed during this procedure (mine was removed 10 years ago) and we imagine that will be done laparoscopically as well. Dr. Mansfield will then make a 6-7 centimeter incision at our breast bone and this is where the stomach will physically come out and the reconstruction, known as Roux-en-y reconstruction, will take place. This reconstruction involves attaching the esophagus to the small bowel and one end of the duodenum will be attached to the small bowel as well.  Here is an after shot of what it will look like after the surgery:

So what are the major complications/concerns?

• The most major concern is a leak at the anastomosis (the place where the small bowel and esophagus are connected), which could actually be fatal if it occurred. One thing that really made us like Dr. Mansfield is that while in the OR he fills the abdomen with saline, submerges the new connection and blows air through to check for leaks before closing us. By doing this he has a leak rate of 0% doing this surgery. 
• Stricture at the anastomosis, which means the passage there becomes very narrow is another concern. This causes difficulty and pain when swallowing and makes it hard to eat or drink. This would have to be treated with a procedure to dilate the area. Luckily the rate of stricture with a hand sewn anastomosis is much lower than one that has been stapled.
• Bowel obstructions are a common complication as well and unfortunately can occur even years after surgery. All we can really do is be mindful of our bodies and pay attention to any signs of discomfort. Most small bowel obstructions can resolve themselves, but some do require surgery to repair.
• A hernia in the Petersen space (the extra space left due to the absence of the stomach) is another concern. This would mean the intestines could herniate in the space and surgery would have to be done to repair the defect. The major concern with this space is also the intestines twisting which would result in blood flow being cut off and the intestines dying, which could be fatal. This complication is incredibly rare and our surgeon will take extra precautions to “close the traps” where this could occur. 

The biggest long term concern is of course nutrition. Most people lose between 10-20% of their body weight in the early months following surgery. We will be unable to eat or drink substantial amounts at one time. We will be eating very, very small amounts pretty much around the clock during the early days. Coming out of surgery we will have a feeding tube (J-tube) that will help us keep up with our caloric requirements. As time passes our bodies will adjust to the new mechanics and we will be able to eat larger portions less frequently. Similar to people who've had gastric bypasses or gastric sleeves, there will be some types of foods that will be hard on our system.  Sugar seems to be the #1 food to avoid. Also on the bad list are fried foods, raw veggies and fruits, and for some people lactose is a problem. Over time we may be able to add small quantities of these foods back into our diets, it's just a matter of letting our bodies adjust first. One consensus from people who have had this surgery before is that at some point we will experience what is called dumping syndrome. This occurs when food, namely sugars, empty into the small bowel too rapidly. Symptoms of dumping syndrome are nausea, vomiting, abdominal cramps, sweating, dizziness, and a rapid heart rate. One great piece of advice we've been given is to keep a food journal and track how our bodies respond to different foods and to try adding new foods to our diet one at a time so we can easily track how we tolerate each thing. We've talked to several people who have gone through the total gastrectomy and it seems like things really start to level out around 6 months and by a year you're settled into your new normal and eating larger quantities and a variety of foods. 

Following surgery we will be in the hospital for 5-7 days. The first four days we will have nothing to eat or drink by mouth, but they will start giving us nutrition via the J-tube the day after surgery. After the first four days we will slowly start with liquids, then advance to soft solids. After we are released from the hospital we will stay at a hotel close to MD Anderson for about a week, then we will have one more follow-up with our surgeon before flying home. In total, recovery should take 6-8 weeks. Nicole will be out of school for the summer and I plan on taking 6 full weeks off work then work half days for two more weeks and return to full duty after 8 weeks. 

Other developments in the past few weeks:

• Nicole had her first appointment, MRI, and mammogram with the breast health center at UAB and everything came back clear! So she'll be checked again in 6 months and my first set of breast tests will be May 16th. 
• We both met with a nutritionist at UAB to start preparing for the road ahead. She gave us some helpful information on adding calories after the surgery and some protein powders and supplements that night be helpful.
• I met with a fertility specialists at UAB to discuss the possibility of pregnancy with no stomach and doing IVF with pre-genetic screening to eliminate the CDH1 mutation risk for any future child.  

Over the next few weeks we just want to focus on spending as much time as we can with our families and friends and eat as much delicious food as possible. We continue to focus on the positives of this situation, like totally eliminating a major cancer risk, but that doesn't mean we don't have days where we are scared or anxious about what's to come. So thank you for continuing to pray for us and our families, because that truly helps us get through those days. 

Wait, We have WHAT?!?!

If I had a dollar for every time I was told how much I’m like my mother…well, let’s just say I’d be a wealthy woman. To me it has always been almost freakish how I look so much like her, how my voice resembles her, even how I make the same facial expressions. It turns out my sister and I are more like her than we could have ever even imagined.

We are “the Jackson sisters.” Nicole is the older sister. She is married to Heath, has two little boys, Caden and Liam, and teaches elementary special education in Hartselle, AL. I am Jessica, the younger sister. I’m married to Steven, have one son, Andy, and I’m a data analyst in Birmingham, AL. Our mother was diagnosed with aggressive breast cancer at the age of 36 and passed away almost two years later (we were 13 and 10). For most of our lives we have feared cancer. We were both tested for BRCA years ago with a negative result.  We felt a sense of relief over those results; we would still be monitored closely, but it wasn’t like there was some biological force working against us. Or so we thought.

After my son was born I swapped OB/Gyn’s and when I hit 30 we started discussing how to tackle my breast cancer chances head on. At the time she suggested I start annual mammograms and she really pushed meeting with a geneticist to discuss new genetic breast cancer connections. I had my first mammogram and everything looked great, so I went on with life. When my annual exam came up in 2016 we discussed meeting with the geneticist and this time an appointment was made. To be honest, beyond my mom and her brother (who had kidney cancer a few years ago) I had no real idea about my family history. We discussed what all I knew, she drew blood for a 32 gene panel, and then the six week wait started.

On Thursday, March 3^rd the geneticist called and said “unfortunately your panel came back with a mutation consistent with an enhanced risk for breast cancer.” I will never forget pulling into a Dollar General parking lot to take notes and hearing the term CDH1 for the first time. I knew it was pretty serious because I asked her if this diagnosis would qualify me for the advanced screening measures we talked about and her response was “yes, but we need to discuss other preventative measures based on where you are in life.” We set an appointment for me to come in and discuss the findings the next Monday and she warned me to be cautious Googling this mutation because it would frighten me. And man was she right.

Here is what we learned. The purpose of the CDH1 gene is to code for a protein called E-cadherin, which is found in the membrane of epithelial cells, the cells that line the surfaces and cavities of the body. E-cadherin helps cells stick to each other to form organized tissue. It also acts as a tumor suppressor protein by preventing cells from growing and dividing too rapidly or in an uncontrolled manner.  When a mutation of the CDH1 gene is present is causes production of a non-functional version of the E-cadherin protein or production of a protein with an altered structure. The loss of this normal function prevents E-cadherin from acting as a tumor suppressor and can lead to uncontrollable growth and division of cells. That’s a whole lot of scientific talk, but basically, the lack of normal function associated with CDH1 mutations leads to a 53% chance of lobular breast cancer (the cancer that took our Mom) and an 83% chance of hereditary diffuse gastric cancer (HDGC), a rare, virtually undetectable form of stomach cancer.  Everyone has two copies of the CDH1 gene, one from your mom and one from your dad. While our Dad’s two copies are totally normal, our Mom had one good copy and one not so good copy. Based on the basics we all know about genetics, that means Nicole and I had a 50/50 chance of inheriting the crummy CDH1 gene from Mom.

After reading all of this and picking my jaw up off the floor, I thought perhaps I just wasn’t seeing this right and that when we met with the geneticist she’d tell me I was in a different group and the risks I kept reading about wouldn’t be the same for me. Wrong again! Knowing Nicole had the same chance of having this same mutation, I had her and her husband come with me and my husband to the meeting with the geneticist. I don’t think I will ever forget the opening exchange with the geneticist. She asked me to tell her what I had read about CDH1 mutations, so I proceeded to tell her everything from above, including the 53% and 83% chances of the cancers associated with this mutation. I waited for her to say yes, but that doesn’t apply to your specific mutation. Instead she responded “you’re absolutely right.” Talk about having the wind knocked out of your sails. Since Nicole was there, she went ahead and started the process of screening her for this mutation. Two weeks later, in the middle of the Central Park Zoo, Nicole got the call that we were all dreading, she too tested positive for the same CDH1 mutation. 

Now let’s talk about screening and prevention. On the breast cancer side we can do alternating MRI’s and mammograms every 6 months, we can take Tamoxifen, an oral chemotherapy drug that can help prevent the cancer from developing, or we can opt for a total mastectomy if we felt we wanted to be that aggressive. On the gastric side here are the options we were given for screening: absolutely nothing. HDGC accounts for 1 – 3% of all stomach cancers and because it spreads out within the submucosal layer of the stomach and doesn’t form the typical mass associated with other cancers it is not picked up on an endoscopy. Even having frequent endoscopies and taking regular biopsies is like finding a needle in a haystack.  Like I said earlier, it is virtually undetectable until it’s in a late stage.

So what can be done to prevent HDGC? You can remove the stomach entirely through a surgery called Prophylactic Total Gastrectomy. I know, you’re probably thinking WHAT?! That was our thought too. Here’s the thing, there are a lot of people who have had this procedure done because they too had this genetic mutation and they are living normal, healthy lives. You can live without a stomach, you can still eat without a stomach, we’ve even connected with an awesome lady who is running marathons without a stomach and another lady who had her stomach removed 30 years ago due to cancer and has never missed a beat. It may seem like an extreme measure to some, but an 83% chance of developing an undetectable form of cancer is way too high of a risk to take. We have three little boys who need their mom’s and we know firsthand how hard it is to grow up without a mom. To us, having this surgery is a no-brainer. After much research and talking with three different surgeons (I’m sure we’ll write a whole post on selecting a surgeon), we have decided to have the Prophylactic Total Gastrectomy with Dr. Paul Mansfield at MD Anderson and surgery is set for both of us on May 24^th. We have already undergone our baseline endoscopy and colonoscopy screenings. About 40 biopsies were taken from each of our stomachs and all tested clear of cancer. Unfortunately, that really doesn’t mean anything. After the stomach is surgically removed most places will run detailed pathology on the entire stomach and 95% of the time some degree of cancerous or pre-cancerous cells have been found. Are we scared? Absolutely! But we have chosen to see this as a blessing, not a curse. We have a chance to save our lives, a chance our beautiful Mother never had. We would much rather hear “you have a genetic mutation and need your stomach removed” than to hear “I’m sorry, you have stage 4 cancer.”

Nicole and I have decided we want to tackle this together. My husband has said we’re like Thelma and Louise driving off the cancer canyon together. We will each be updating this blog with news on our progress and CDH1 for people who may be newly diagnosed and looking for information. Please feel free to ask us any questions, we know this is a lot of overwhelming information. Thank you for reading this and supporting us on this journey. Please know we are genuinely grateful for and covet your prayers for us and our family during this time.