Monday, April 18, 2016

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 3rd 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 24th. 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.

37 comments:

  1. Praying for you guys! And yalls family!

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  2. Praying for all of you! Love The Carter Crew

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  3. Praying for you two and your sweet family! The Burroughs family is here for you! Please don't hesitate to ask for help!

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  4. Thank you so much for sharing this. Please know that my earnest prayers are with you both!!!

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  5. Perfectly written. I love you so! I know the good Lord will be with you and Nicole every step of the way.

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    1. I love you too. I think we are both really at peace with the situation now and feel like God has led us here for a reason.

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  6. Thabk you for sharing yalls story. Praying for you, your sister and yalls family.
    Phil 4:13 Through Christ all things are possible.

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  7. Wow! I have much love, respect, and awe for your courage and strength to share your story! Please know I am here if you need anything! Will remember you in prayer and will surely mention you to all I trust that will fervently pray for you both!

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    1. Thank you, we truly appreciate it more than you know.

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  8. Wow. I cannot begin to imagine how your lives are forever changed, you girls are so brave. I will keep you both in my thoughts and prayers.

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  9. Praying for you and your families. We are so blessed to have the information that we have today.

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    1. Thank you. And you are right, it really is a blessing to have this information and be able to be proactive.

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  10. Nicole & Jessica, you're right. You both look so much like your mother. I remember going to see your mom and I held her hand and gave her a hug when she was really sick. I will never, ever forget the day she passed. Not ever. The heavens opened up in the sky. There was a ring open in the sky that day. I love y'all both and I'm so proud of the beautiful women and mothers you've become. Oh, by the way, this is Brooke R.

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    1. Thank you Brooke. She truly was an extraordinary woman. One thing we've talked about is how she would be happy to know that through her illness and death her two girls were able to gain this knowledge and take steps to prevent these awful cancers. So she very much saved our lives.

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  11. Nicole & Jessica, you're right. You both look so much like your mother. I remember going to see your mom and I held her hand and gave her a hug when she was really sick. I will never, ever forget the day she passed. Not ever. The heavens opened up in the sky. There was a ring open in the sky that day. I love y'all both and I'm so proud of the beautiful women and mothers you've become. Oh, by the way, this is Brooke R.

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  12. Sitting here reading this after G & Jason were discussing this morning. ..in shock. To say I admire your courage is an understatement. Y'all are going to be fine...Praying you up. All the way up!!!

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    1. Thank you Max. I think we were pretty much in shock at first, but we've really come to terms with it all and are very much at peace with our decision.

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  13. Psalm 32:7: "You are my hiding place; You shall preserve me from trouble; You shall surround me with songs of deliverance. Selah".

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  14. Thank you for sharing, Jessica. You are someone who knows the power of speaking openly ... you may actually save others' lives by telling your story. I admire your courage and send prayers for the best possible outcomes at each and every step, and always.

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  15. Thank you for sharing. And thank you for sharing on the CDH1 page. Your positive thinking and your courage will get you through this. I am 8mths PO for my TG and 2mths PO for my Breast surgery. I had both operations done within 6mths of each other, and doing great. I take one day at a tome.

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  16. Praying for both of you and your families.

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  17. I just want you to know. I love you both and we are praying for you.

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  18. Hello, Jessica and Nicole. I am so glad I stumbled upon your blog. I was also recently diagnosed with the CDH1 mutation. My father died of HDGC four years ago and it wasn't until my aunt was diagnosed last year, that we learned of the genetic connection. I am in the process of choosing a surgeon (I'll be staying local near Detroit) and will be looking to have surgery the first week of August. I will be following your stories, and wishing you all the best. I'd love to connect with you girls via facebook/email, etc. It's a hard thing to hear, and it's a daunting thing to try to go through, but obviously not even remotely a choice. Like you said, I'd rather hear someone tell me that I need my stomach removed, over hearing them tell me I have stage 4 cancer that is untreatable. Good luck to you both, and I'm rooting for you girls all the way from Michigan.

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    1. Hi, Julie! I'm so glad you found our blog too! I would love to talk to you. Let's connect via email or Facebook and I can send you my number that way if you'd like to call. You can email me at nicole.mcdonald@hartselletigers.org.

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    2. Julie- Where are you in Michigan? Where did you end up having your TG? University of MIchigan?

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  19. Jessica, I am so sorry you and your sister are having to face this hurdle in life. But, I also know you are an incredibly strong woman and tackle this successfully as you have done with other challenges in your life. I will be keeping you in my thoughts and prayers. - Tila

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  21. Hi Jessica, I just saw this story on my yahoo mail yesterday. My prayers are with you and your sister for a speedy recovery.

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  22. Thinking of you guys!
    If you guys have any questions, I can give you my experience with tamoxifen and prophylactic mastectomy. Sending love!

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