Diagnosed with DCIS after first mammogram. 32 yrs old.
Hi all. Sorry for the long post but just want to share my story.
I previously joined this forum when my mother was diagnosed with breast cancer (age 70) last October. Now…. I have my own diagnosis :(
After my mother's diagnosis her hospital offered me a genetic test and I tested positive for a double chek2 mutation. I had a genetic counseling call and was told this is a more rare mutation and that having two mutations is even more rare and under researched. From what is known, it was recommended I start breast cancer screenings now rather than wait until 40.
I had my first ever mammogram in Feb of this year. The technician told me it was common to get called back for follow-up tests because this was my first mammogram. So, when I was called a few days later and asked to return for an ultrasound, I didn't think much of it. I was shocked to hear at that ultrasound appointment that they found something that might be cancer and it would require a biopsy. A few weeks later I returned for a core needle biopsy. The results came back "intraductal papilloma with atypia". The nurse told me that because I am high-risk with my mutation they would want to surgical remove this papilloma.
I had to wait four weeks for a surgery consult appointment and the surgeon told me there was a very small chance this was actually cancer, but it could be.
On April 21st, less than a week ago, I had my excisional biopsy surgery. Yesterday I received the pathology report - DCIS (stage 0). ER and PR positive.
The silver lining is it is stage 0 and they already removed the cancerous cells with the surgery I had last week. But…. now I have to decide how to move forward with my treatment and I'm feeling lost about which decision is best. My surgeon explained I have two options:
- Radiation now. Followed by 5 years of tamoxifen and continued high-risk screenings every 6 months.
- Mastectomy with no follow up treatment. (now or at any point in the future)
A huge part of my dilemma is I am only 32 years old and I have no children. My husband and I have not made a decision whether or not we want kids. It's something we have seen as a possibility but not decided either way. If I start taking tamoxifen, I would absolutely not have the option of getting pregnant in the next five years because that mediation can cause birth defects. Again - I wasn't totally sold on having kids for sure - but I hadn't really made up my mind yet. A part of me doesn't want to have kids because with two genetic mutations I have a 100% chance that my mutation would be passed on to any biological children (just 1).
I'm terrified of a mastectomy. I helped my mom recover from hers just a few months ago and saw firsthand the aftermath of the surgery for her. I'm also worried about my self image and self esteem with this option.
Thank you for reading.
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I'm sorry you are facing this now, but also want to say how great it is that they were able to catch it so early!
Women do come off of tamoxifen for pregnancy. You could be on it for a year or two, come off for pregnancy, and go back on.
I am trying to imagine what I might do in your shoes, had I been diagnosed a bit younger but at stage zero. I would also be scared of a mastectomy, but knowing what I know now about the lifelong risk of metastatic recurrence hanging over my head even with stage 1 cancer, I kind of wish I'd had that option. Did you get a sense from your doctors about the risk differential between mastectomy and tamoxifen, if there is any?
I'd also say that your recovery from a mastectomy at 32 could very well be different and much easier than your mother's at 70.
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Thank you for your reply. I am grateful it was caught early as well. If my mother never would have been diagnosed and if I never would have had the genetic testing…. who knows what would have happened.
In terms of risk, a big part of my dilemma is the lack of research and understanding about my mutation. I have seen studies out there saying a double Chek2 is similar risk to a BRCA in terms of risk. But…. risk of recurrence is still widely unknown. All I really know is the older I get, the greater the risk of recurrence.
Yes, part of my thought is that if I do have to get a mastectomy one day, it would likely be far easier to go through at a younger age than an older one. But…. I also don't want to lose a part of my body. I'm worried about what I would look/feel like after. My mom also had no reconstruction.
I will make a note to ask my Dr. about the risks/possibilities of going off of tamoxifen if needed for pregnancy. I am worried about the side effects of radiation and tamoxifen. I'm very prone to nausea and often fill ill and fatigued after taking certain medications, like pain medication. I'm worried about how it will make me feel.
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Hi bailey jumper. I also have a CHEK2 mutation, but not double. I was followed for years with several intraductal papillomas found on biopsy. My breast surgeon never pushed for removing them, but we stepped up the screening with MRIs alternating with mammo/ultrasound after I found out about the CHEK2. I became uncomfortable with it after having another biopsy (again, benign papilloma) and I went for a second opinion. That surgeon wanted another area biopsied and that turned out to be DCIS.
I am 54, so in a different stage of life than you, but I chose bilateral mastectomy with implant reconstruction. I am 5 weeks out from the mastectomy and have tissue expanders. For me, I chose mastectomy to stop the constant surveillance and biopsy and the fear that this spot had been missed - what if other areas were missed? I also read that CHEK2 has an increased risk of both local recurrence and contralateral breast cancer and I didn't want to live my life in fear of when it was going to happen. I did not want to get to a stage of cancer where I had to get chemo. That being said it was a tough decision to make, and it felt very "unfair" that having Stage 0 cancer I was going to the "extreme" option. But the surgical pathology confirmed I made the right choice as there was more DCIS than expected and extensive atypia in both breasts. And I didn't need any radiation or chemo or hormonal therapy, which is a huge relief.
What I will say is that if you are considering mastectomy, I want you to know that I am doing very well (just cleared to resume all normal activities) and I feel like the outcome is going to look really good. I was so afraid about that and my body image. I strongly considered going flat and not doing reconstruction. My plastic surgeon showed me a picture of an outcome with implants that changed my mind - someone similar in body type to me and the results looked so…normal. I feel really confident in my surgeon's skills and I was healthy and active before surgery which I think was in my favor, as your age would be. It was a tough couple of weeks physically and emotionally right after surgery, but turned a corner and I am feeling strong and positive.
I'm so sorry you are in this position. I wish you the best with your choices. Did you meet with a genetic counselor? And with a plastic surgeon to discuss what all the options would be for your individual situation? There are a couple of facebook groups for CHEK2 by the way, if you haven't found them already. It's frustrating how little is known yet, but even over the 5 years I've known about it I'm seeing a definite increase in awareness and consideration in research. Best of luck to you.
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Thank you so much for your reply. What you wrote is exactly my fear as well. I don’t want to spend the rest of my life having more biopsies, more exams, etc. I just want it to be over and to not live in fear. Because I was diagnosed so young I do have a great fear of it coming back one day.
I don’t meet with my surgeon until next week. I think if I did have a mastectomy I would go the implant route. The extra incision and recovery with the tissue method really just freaks me out. One of my concerns is I’ve read there is a risk of implants bursting. And as I’m so young that risk would be higher for me at some point in life.My biggest concern with mastectomy is what it would feel like after and my body image. I’m already having body image issues even with just the biopsy scar I have now. I hate my husband seeing me and it makes me feel “tainted”.
@triscuit with the implant mastectomy, do you have any feeling at all in your breasts? Does it feel alien/foreign?
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Talk with the doctor. I think if we read to much we get more fear.
I found a 5cm lump 2 years ago, and at 60 never had a mastectomy. Never thought i would get BS. None in my family, or so i thought.
Two days before my chemo was to start, required to shrink my 5 cm tumor. I received the results from the genetics department. BRCA2. Likely from my Mom. 2 of my 4 siblings were also tested and carry BRCA2. My older sister does not wish to be tested.
I love the genetics test just for the fact you got to find out super early!! Not having a lot of testing results to assist you is scary. I was supposed to have radiation after my left side mastectomy, but i was told radiation would not statistically help me. I have cancer that affects 2 % of the population.
I am way older than you. I had skin saving mastectomies. At 60, I had my tbes and ovaries removed. BRCA2 risks tend to show in the ovaries, fallopian tubes and the breasts. Higher incidence of melanoma as well.
I had thought my choices may have been different in my early 30's. I know there are forums on this site for those that are young. Not that you share the same genetic mutation, but the same types of choices. Scary. But what i have read in all the shares so far for you, I see you are looking out for you. Body image, what your husband may be feeling. All are legitimate and necessary. I would take to your doctor and the genetics team. What are the known risks, what on- going tests can you take. Drugs?
Keep us posted
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hi just wanted to jump in as a fellow survivor with a chek2 mutation. I was mid 40’s when diagnosed. I opted for a double mastectomy and reconstruction. My sister also has chek2 mutation with advanced stage ovarian cancer. We were diagnosed 6 months apart and are a year apart in age. I tell you this because I think chek2 is often minimized as a risk. And while ovarian cancer is not really linked to chek2 I think it and other cancers will be. Now you have stage 0 DCIS. But I was stage 1 IDC. So there was no way I was going to have a lumpectomy. For me the risk is too high. Our situations are slightly different. These decisions are tough. Let me know if you have any questions. Or if I can help in anyway.
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I totally agree that chek2 risk is often not accurately described. Especially in my case with two mutations. I’ve been seeing studies that suggest having two mutations puts your risk level in the same range as BRCA. Also seeing studies that two mutations makes diagnosis at a younger age way for likely. That certainly fits in my case. My twin brother also has two mutations and he had testicular cancer at 18.
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I also have concerns about going the tamoxifen route because of my age. After those five years….. then what? I take it even longer? My risk goes up again all before 40?
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Hi Bailey. I was diagnosed with stage 1 IDC ER/PR + breast cancer 10/22 at the age of 44 and had a double mastectomy 3 weeks later. They gave me the option of lumpectomy with radiation and tamoxifen and monitoring with MRIs and mammograms every 6 months for years to come or a mastectomy with no radiation needed but still having to take the tamoxifen for 5 years. I can not comment on the motherhood aspect of your post as I have no children and can not. What I can say is that when I was diagnosed and had to make a very fast decision about what I should do I had a gut feeling that I should have a double mastectomy. The reason I chose that was that I could not handle any more of the stress of going every 6 months wondering " what will they find now?" I have a strong family history and have been getting mammograms and MRIs since my early 30s and mentally it is draining always wondering "what if they find something?" Almost every imaging they found something suspicious and I went through ultrasounds and biopsies over the years multiple times. It was very difficult always wondering if finally this is the time it is cancer. And my last biopsy it was. I 100 percent know I made the right decision for myself. They found 2 more areas of cancer in the tissue they sent from by breast after surgery that were not picked up in my imaging. If I had done the lumpectomy I would still have cancer most likely. I know you are in a different situation and it is such good news that it is stage 0. All I can say is go with your gut. Whatever you do will be the right decision. There are no wrong decisions with these things. I am currently healing from my breast implants being placed a couple weeks ago after my double mastectomy with expanders. I can't say it hasn't been hard but I now look at myself in the mirror and see a different person but I tell myself " you are alive!" and in the end that is what really matters, right? Let me know if you have any questions about mastectomies with reconstruction.
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I absolutely think that about chek2 also. I have 3 sisters - one had ovarian cancer - yes, everyone says ovarian is not linked to chek2 and they dismiss it as a risk (fortunately she is doing well). My younger sister had a rare cancer also not linked to it (chondrosarcoma) and she died within a year of diagnosis. This is why I was tested and why I made the choice for bilateral mastectomy and didn't even consider lumpectomy (even though a really struggled with the reality of it). Neither of them were or have been tested for chek2 but I would be very surprised if they didn't have it as well.
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There are risks with implants, which was why I was considering going flat for some time. But in talking to my plastic surgeon during the consult and doing more reading, implants have really changed and the risks are much less than they were in the past. I was satisfied by what I learned about that and comfortable with the risk. I takes a lot of pressure to burst an implant and that is unlikely. I think if you talk to a surgeon honestly about the risks and possible complications you'll get a better idea if that's something you are comfortable with or not. There are also options for reconstruction with your own tissue (autologous reconstruction) if implants are not something you want to do. I didn't want to choose that route but many are very happy with the natural feeling outcome of that. Again, hearing all the options from a surgeon is important.
You asked how it feels and I will say it's too early to say for me. I have the tissue expanders and they do feel a bit alien. Until about 4 weeks out when I got my second fill I thought it was always going to be pretty uncomfortable, but that fill really helped it to be more normal looking and maybe eased some pressure of how the expanders sit. Every day I feel less bothered by them, I think about them much less. I'm wearing my regular bra again and it looks great and that made me feel better. I'm really looking forward to the exchange surgery in July to get to a nicer, soft outcome, I'm really hopeful about that. I hear that the exchange surgery is a breeze compared to mastectomy and opening the same incision (maybe even not as wide) is not a big deal. Oh, you asked about sensation -the nipples and the center of the breast are the weird numb feeling. I can feel much more as you move to the outer part of the breast away from the nipple. I don't know how much feeling will come back. I feel like as swelling has gone down I feel a little more. I have a relatively new relationship and physical touch and sensation was an issue I struggled with too. I feel like it's going to be different but ok, but again too soon to say much for me.
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Thank you so much this is really helpful. I’ve heard of the using your own tissue method but looking at how much more involved that surgery is - that absolutely horrifies me. If I do go mastectomy I think I’d go the implant route. I’ve also read that younger women might be a candidate for direct implants without expanders…. Wish I could talk to my surgeon sooner but have to wait til end of next week…. There is always more waiting. :(
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One step implants, no TE’s, have little to do with the patient being young. I had my one step recon done at age 55, over eleven years ago. The biggest factor in determining suitability is having a skin sparing mx/bmx since that will be needed in lieu of expanding skin. As a result, using one’s own skin and not stretching it via expanders, your implants will generally be about the same size as your native breasts. One step implants, because of medical limitations due to skin removal, are a less common route to go and not as many plastic surgeons are well versed in the procedure but youth is not a factor (unless one’s age presents other health challenges).
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I usually have moderate to low issues with side effects from drugs, but tamoxifen wiped me out. On the other hand, toremifene, a sister drug, has been absolutely fine.
My initial goal was 5 years, but now I'm aiming for 7 years, and to be honest as long as the side effects are so minimal, I'm hoping my oncologist will just let me stay on it.
I guess what I mean is, you don't need to worry about how your body will react to the drugs - you can just try them and find out.
There are departments that focus on high risk women like yourself. If your doctor is not part of a department like that, I think it could be a great idea to seek a second opinion/supplementary consultation from a specialized department. They will be the most up to do date on the research and options. For example, tamoxifen is only one of a family of several SERM drugs. Tamoxifen is one of the oldest, cheapest, and most studied, but it is not necessarily the best (either in the sense of side effects or in the sense of efficacy) for every woman for every need.
A great oncologist should be able to counsel you about all your options, including fertility preservation, follow-up screening options, and possible timelines for decision making. For example - could you try hormonal treatment and see whether it agrees with you, and then opt for a mastectomy later. A good oncologist should be happy to have you consult with another oncologist with greater specialization or experience, and to coordinate with them for you treatment.
I'll also say that social workers/social work services can be very helpful for talking through options with someone who has basic background health knowledge, counseling skills, and knowledge of your local healthcare/insurance landscape and cost and support options.
I had just a few conversations with a social worker from Sharsheret, but it made a huge difference to me feeling confident and supported.
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I felt the same way about the extensive surgery for autologous reconstruction, but I hear a lot of people very happy with their results. Direct to implant might be an option for you. I wanted to do that and my PS said she would be willing if things looked ok during surgery. She felt during surgery that my skin condition was not what she wanted it to be (she said it was a little "angry") so expanders were placed to get a better result (more gradual expanding). I was told that if I did direct to implant I would end up a bit smaller than my original breast size. This wasn't a problem for me, but good to ask about.
It's a lot of waiting for sure. Take your time in making your decision though. It's not a rush as much as you want to get this taken care of, it's not an emergency situation. You'll feel so much better when you have a plan in place.
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wow that’s interesting about your brother. All of my siblings carry the same chek2 mutation. Two of us have cancer in our 40’s. The other two don’t. Will be interesting to see what happens. The odds of all 4 of us having the chek2 mutation seems unlikely but here we are.
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so interesting! More research is needed in regards to chek2. I’m sure my siblings that have the chek2 mutation (but not cancer )must feel like ticking time bombs
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Thank you. I am seeing a high risk team already. I will keep these things in mind to ask about. I am sensitive to medication. Your point about different drugs if one doesn’t work out is interesting and is something I will ask my Dr. about to hear the possibilities.
One of my biggest fears with the medication and radiation route as well is how the radiation would affect my skin. I do have sensitive skin and I worry about it causing permanent damage that would then later limit my reconstructive options.
I haven’t heard of Sharsheret but I do have a peer mentor through FORCE I’ve been talking to since I discovered my mutation. That has been very helpful.
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Baileyjumper, I am thinking of you. Any updates about your surgery plan? What type of reconstruction you plan to have? Good luck with everything!!!
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Thank you. Not really many updates yet. I’m going to be meeting with both a radiologist and a plastic surgeon to get all my options. I have until July to decide between radiation and tamoxifen or mastectomy.
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