Lipomas and PTEN Mutation

lipomas(Not the most flattering picture of me, but I’m not big on selfies anyway. At least my Pusheen shirt looks good!)

So I recently had yet another surgery. Yes, another one.

There was a palpable tumor in my abdomen. Due to its location, hardness, and size–along with the fact that it had suddenly become painful–my oncologist thought it should be removed and biopsied.

As the surgeon could not positively identify the tumor as a lipoma, a benign fatty tumor, she refused to remove it in the office, which meant another full surgical procedure.

I was going to be sedated no matter what, so I convinced her to remove all of the lipomas from my left arm. Unfortunately the ones on my right arm will have to wait another year so that the risk of lymphedema is lessened. (According to my surgeon, if a breast cancer patient reaches the 2-year mark after a bilteral mastectomy without having lymphedema, then the risk for problems in the future goes down to 10%.)

All in all, my surgeon removed 23 tumors from my left arm and one from my abdomen.

Lipomas are an annoying part of having the PTEN mutation. While they are not cancerous, they are unsightly, and they can create pain if they grow too large or are in an awkward part of the body.  For example, in 2000, a lipoma suddenly began growing in my right breast. In the space of just a few months, it grew to the size of a baseball, so large that I could only wear loose t-shirts until it was removed. The pain and embarrassment from that lipoma are still with me to this day.

Honestly, I hate lipomas.

I have lost track how many of these tumors I have had removed over the years. The pain and expense of all of these procedures have reached ridiculous proportions.

This is the life of someone living with Cowden syndrome. For us, it’s much more than an increased risk for various cancers. It has a widespread effect on our bodies and our well-being. Plus the enormous toll on our finances to continually support numerous surgeries and various treatments.

We become a curiosity and professional pincushion. Such is the life of a PTEN’er.

 

PTEN and Cancer Connections

PTEN and Cancer

PTEN…the gift that just keeps on giving.

Seriously. It can stop now.

After some research and discussion, we believe that my father is most likely the one that passed on the PTEN mutation to me. He fits many of the physical criteria–high-arch palate, lipomas, skin tumors and cancers, colon cancer, etc–and so there seems to be a high probability that he carries the mutation.

And now he also has a new symptom, bladder cancer. Although not included in many of the lists for cancers related to Cowden Syndrome, new research is apparently connecting it to the PTEN mutation as well, at least according to my genetic counselor. The counselor emphatically stated that for a patient to have both colon and bladder cancer–with me as a family member, of course–both of his cancers were probably caused by the PTEN mutation.

So my fellow PTEN’ers and researchers, add bladder cancer to your list of things to be wary of.

And as far as my father’s cancer is concerned, I am grateful to say that his was Stage 0, Grade 1. They caught it early, and it is not an aggressive form of cancer. If you have to have cancer, then that’s the best news that you can get.

He’s already had the surgery to remove the tumor, and he most likely will not have to have any further treatment other than regular follow-ups.

So good and bad news continues in my family. Still more cancer, but my dad was very lucky this time. And I am happy to have him in my life for awhile longer.

 

PTEN and Feminine Issues?

PTEN and Feminine Issues

So the hysterectomy happened…

I have had many surgeries during my lifetime, but I can unequivocally say that this was the most painful one so far. I spent a couple of nights in the hospital and have been recuperating since then.

Although I could discuss the emotional impact of the surgery, I am honestly still trying to figure that out at this point. So I’ll stick with just the facts for now.

When my gynecologist reviewed the pathology report, she stated that she had never seen reproductive organs that were so diseased and covered in tumors. All of it was benign, but it was everywhere. Considering the extent of the problems, she said that this would explain the extreme pain and heavy bleeding that I experienced each month.

Here’s just a sampling from the pathology report:

  • Endometrial polyp, benign
  • Benign inactive indeterminate pattern endometrium
  • Leiomyomata
  • Adenomyosis, florid
  • Endometriosis and fibrous adhesions
  • Ovary with a benign mucinous cystadenoma, endometriosis, and serosal fibrous adhesions
  • Fallopian tube with serosal endometriosis

It goes on and on, but that should give you an idea of what they found. If you’re having trouble wrapping your head around all of those terms–like I was, to be frank–I was told that the disease and tumors were so extensive that my uterus could no longer function as a muscle, that it was simply a sponge. And that was only one part of the entire problem!

I have had painful and heavy periods my entire life, and at no time did any of my regular exams find anything. When I would try to explain my issues with a gynecologist, I was dismissed, with the doctor saying that my reproductive system was “healthy” and I was most likely exaggerating.

Too, after my first cancer diagnosis, I had difficulty finding a gynecologist who wanted to treat someone with a history of breast cancer at a young age. But that’s a whole ‘nother problem in itself.

So the question at this point is this…is all of this related to Cowden Syndrome? I did find this article that references gynecologic problems related to the PTEN mutation, but it only mentions uterine fibroids.

Hopefully further research on the PTEN mutation will shed more light on its gynecological impact.

For those women who have been diagnosed with Cowden Syndrome, however, it may be advisable to push your doctor for more tests than the regular yearly exams, especially if you are having serious issues with your periods. It is certainly possible that all of the disease found on the path report was unique to me alone. But I would hate for another woman to go through 30+ years of awful monthly visits from “Aunt Flo” before they discovered the problems with their reproductive system.

When it comes to rare disease, I guess the final lesson is to take charge of your healthcare and make sure you are getting the treatment you need.

 

Adventures of the Flat and Infertile

adventures of the flat

My next step in treatment is about to commence. Yes, the dreaded hysterectomy has been scheduled for next week.

Nothing like sitting in the waiting room of a gynecologist’s office to make you feel a bit conspicuous. Childless, flat, and there to schedule a hysterectomy.

When I met with the doctor and had my initial exam, I was somewhat surprised to find out that I wouldn’t be able to have a laparoscopic hysterectomy due to my size, fair skin, and lack of childbearing.

Who knew that being a petite, redheaded woman with breast cancer and no history of childbirth would be a drawback when it came to this surgery?

I will be undergoing a full abdominal hysterectomy, with the one large incision on my abdomen. The average hospital stay is about two days, with recovery about six weeks.

Honestly, I’m dreading this surgery, but I’m ready to have it done. At least this will eliminate the Zoladex from my current medication regimen. Although it doesn’t cause me any side effects, I will no longer have to go in for the monthly injection of the implant.

Too, as a patient with Cowden Syndrome, I’ll be eliminating one more possible risk in having this surgery done on a prophylactic basis, way ahead of any cancer developing. As I’ve already had my thyroid and breasts removed, I suppose I’ll doing pretty well as far as future risks are concerned.

And frankly, I’m pretty sick of cancer at this point. I’ll do what I can to avoid any further encounters with the beast.

I’ll be offline for a bit so that I can get things prepared in real life and psyche myself up for this next round in the surgical suite.

See you soon!

Accepting the New Normal

accepting-the-new-normalAccepting the fact that your life will never be what it once was after a major illness can often be the hardest thing to overcome. It has been for me.

When my current cancer journey began in July of last year, I easily fooled myself into thinking that this would be similar to my first diagnosis in 2004. I thought I would go through surgery and treatment, easily sliding back into my old schedule and employment.

Hoping to return to work soon has often been my lifeline over the past several months. I happily remembered having gainful employment and feeling that wonderful sense of accomplishment when a particular task was completed. Despite the often stressful nature of my job, I loved the work. And I miss it even now.

But the progression of this particular cancer journey has been much different. The cancer is much more serious, and the treatments have been life changing. This is Inflammatory Breast Cancer, Stage IIIB, and I am now much older than when I was first diagnosed back in 2004.

My body and my life are now totally different than they once were.

I have had a bilateral mastectomy with no reconstruction due to various reasons…

I have been diagnosed with a rare genetic mutation that puts me at greater risk for multiple cancers…

According to the doctors, it is almost certain that I will face even more cancers in the future due to my diagnosis of Cowden Syndrome…

I have undergone another course of chemotherapy, which has caused pain and illness…

I am now undergoing radiation treatment to the same area that was treated in 2004. I am already burned and am in constant pain now…

Breathing has become difficult since the radiation started, which sometimes limits my daily activities…

The fatigue from the treatments just doesn’t seem to end…

I am now in chemically induced menopause, which along with the mastectomy, have basically destroyed my sexuality as well as caused long-lasting effects throughout my body…

After radiation, I face a hysterectomy and most likely 10 years of anti-estrogen therapy, which are known to cause extreme pain and weight gain, among other things…

I have lost at least 10 pounds and have been physically weakened by the surgery and treatments…

I may already have osteoporosis due to the treatments, and so may have to begin treatment for that condition…

And that’s just a short list of all the changes to my life that have happened so far, the beginning of my “new normal.”

And now I have found out the truth about the doctors’ current success with treating inflammatory breast cancer. While it has improved over the past 10 years, their success rate is now 50%. I have a 50% chance of being cured with all of the treatments that are currently available. If I happen to fall into the other 50%, then I have been told their ability to treat a recurrence would be quite low.

I have given up hope of returning to work any time soon. I have filed for disability, which has been something I have dreaded doing.

I do not want to be sick. I want to work and feel good about accomplishing things. I want to feel like my old self before all of this started.

Perhaps acceptance of things is good. Or maybe it’s giving up. I’m not really sure at this point.

But I tire of people dismissing the true effects of cancer. I have been told that surely I now see the “light at the end of the tunnel,” and everything can go back to normal. I wanted to scream when I heard this but stayed silent.

There will not be any going back to my former life. My body is changed permanently, and I may have effects of the treatment for at least a decade, probably longer. And I may never return to work. And to be perfectly honest, this cancer may kill me.

I just don’t know any more.

I guess I have come to that point where acceptance of this “new normal” is my only choice. What happens after this, I have no idea.


If you’re the praying sort, please pray for me. I have been struggling mentally and spiritually–and well, physically–lately. I could use the strength and prayers. And possibly a bit of fun if you can share a bit.

Mutation Certification Letter

mutation-certification-letterI have received what I jokingly refer to as my “Mutation Certification Letter.” Part joke, part reality. It is a letter from my genetic counselor explaining the PTEN mutation, along with the diagnostic criteria and symptoms of Cowden Syndrome. Additionally, the letter includes a list of the scans that should be performed in the future to screen for any problems that might arise.

As you can imagine, it is quite a lengthy letter. Part of the reason for the delay in receiving it appears to be that the letter was returned by the post office for insufficient postage. Yes, it’s huge.

Toward the beginning, the counselor describes Cowden Syndrome as a “cancer susceptibility syndrome.”  Seriously. My radiation oncologist asked me if I felt like a “tumor factory,” and I had to nod in agreement.

Cowden Syndrome puts me at risk for a variety of cancers as well as having a second cancer, both of which have proven true in my case. My doctor said that the chance of my having Invasive Ductal Carcinoma (Triple Negative) and Inflammatory Breast Cancer were astronomical, however, even with the mutation.

Regarding the “second cancer,” I was a bit confused after reading the letter and the literature online. Does it mean a second breast cancer? Or another cancer elsewhere?

So I asked my oncologist if I had now fulfilled my “quota” for the second cancer. We both laughed a little at my wording of the question, and then she began to explain the studies. Most of the second cancers found have been in older patients; living longer, they are more likely to have another cancer, with or without a  genetic mutation. Still the research does point to one thing: I’ll probably have yet more cancers in the future due to the PTEN mutation.

Attempting to lighten the mood a bit, my oncologist went on to say that I have a mutation, but I’m not a “mutant.” I responded that she was giving me radiation treatment and so I could become one soon, à la the Incredible Hulk. She seemed a bit surprised at my response, probably along with being a tad weary of radiation jokes.

What else can you do, though, but laugh about the craziness of it all? As Julie Manning says in her newly released book, My Heart: Every Beat Surrendered to Our Unchanging God,

“This life is truly just a breath.”

Frankenstein or not, I’m still here, and maybe something good can come out of all of this.

Radiation Treatment and Me

radiation-treatmentSo…radiation therapy.

There’s been a big question since the beginning of this latest cancer journey as to whether or not I could have radiation again. Also, there is the addition of the PTEN mutation to the whole equation, making things that much more complicated.

In 2004, I had radiation to my right breast after I had completed chemotherapy and a lumpectomy with sentinel node biopsy. As the biopsy of the lymph node was negative, the radiation only covered the breast and not the axillary lymph nodes in the armpit.

This current cancer is also on the right side. As it is inflammatory breast cancer, the standard radiation treatment would cover the entire right breast as well as the axillary lymph nodes and part of the neck. This treatment protocol would have been the case no matter the results of the lymph node biopsies during the bilateral mastectomy.

Having not had radiation to the armpit and neck areas in the past is a plus, but the problem will lie in radiating the right side of my chest again, especially as I no longer have breasts to “target” in the treatment. The main risks include rib fracture and tissue necrosis, as well as problems related to those organs that may receive radiation (lungs, liver, etc.).

And of course, “feel the burn” will be literal. Causing a reaction in the skin–i.e., burn–will be sought after. I have had plenty of sunburns in the past, but I think those may pale in comparison to what this upcoming radiation treatment will bring.

Scary so far?

The positive in my case is that there has been such a long time since my last radiation treatment. According to my radiation oncologist, there have been studies over the past ten years or so showing that the tissue can repair itself after radiation treatment, making a second treatment to the same area safer.

Regarding the PTEN mutation and radiation, there was apparently much discussion among the local radiation oncologists and my medical oncologist. Some patients with both the PTEN mutation and breast cancer are warned not to receive radiation treatment. As this mutation and its associated problems do not result in DNA breakage, my oncologists believe that radiation treatment will be fine in my case. They could not find any studies that led them to believe that Cowden Syndrome would be a contraindication when it comes to radiation treatment.

Basically, the consensus is that they can repair the damage caused by the treatment, but they cannot treat a recurrence. The risks associated with the cancer outweigh those of the treatment.

So radiation treatment will begin soon. I had my simulation appointment on Friday; this is where a CT scan is taken and marker tattoos–these are used to align the machine during treatment–are placed. (Yes, I now have one more tattoo to add to my collection of “dots,” making a total of three.) The oncologist will use the CT scans to begin formulating a treatment regimen.

As she went through the process, she decided that she would treat a much wider area of my chest than I expected. The treatment area will cover part of my left chest, my entire right side and part of my back, and part of my neck.

Scary now?

I will be having a pulmonary function test and bone density scan to provide a baseline before treatment begins. Also, due to the complexity of my case, the radiation oncologist may take a couple of weeks to research and further refine the treatment protocol.

Although I was able to slide through the surgery and treatment in 2004 with minimal long-term problems, this is obviously not the case with the current cancer. My body has already been changed permanently by the bilateral mastectomy, and now there will be lasting consequences from what lies ahead (radiation treatment, hysterectomy, and anti-estrogen therapy).

Scary therapy or deadly cancer?

I’m going with therapy and a hope for a cure.

 

 

 

 

Connecting Online

heart-with-frameWhen I was first diagnosed with my latest cancer in July of last year, I was hesitant to blog publicly about it.

Why? Honestly, I was destroyed by the news. Having breast cancer yet again after twelve years just seemed like a cosmic joke. Also, I feared that I faced my mother’s fate, a quick death after the recurrence of her own breast cancer. My heart was raw with the knowledge of what could happen.

My blogs went quiet until I received the results of my genetic test. I had never expected something like the PTEN mutation, a diagnosis that could explain so much of my past medical history as well as my current cancer. I researched the syndrome and decided to begin writing again in the hopes that my words would reach someone else out there.

Not all of my posts have been upbeat. I decided to lay it all out there in black and white, even when my life was covered in the gray of the unknown. My posts have run the gamut of steroid-fueled rants to sincere statements about the pain of breast cancer treatment.

I expected the occasional “like” on my posts, but I found friends as well. I was pleasantly surprised to connect with other PTEN-ers out there. They have made the revelation of my PTEN status as well as my current cancer journey so much easier. That connection has been a blessing that has come out of all of this badness that is my current situation.

Scanning my Facebook feed this morning, I see that another breast cancer awareness “game” is afoot. Apparently a message is sent, encouraging the recipient to “check their boobies” and put a heart on their timeline.

I have seen the hearts on my friends’ timelines and have wondered about their effect. Does the gamification of breast cancer help in any way? Do the hearts express the pain of breast cancer and the loss of loved ones? Will even one person be spurred to examine their own breasts because of these hearts?  If so, then I am glad.

But I doubt this is true. I would rather see women leave these games behind when it comes to breast cancer. For some of us, breast cancer is all too real and may prove to be deadly.

I no longer have “boobies” to check and have been through the maze of breast cancer treatment twice. This time I face a much worse prognosis as my cancer is currently Stage 3.

I could not save my “boobies.” I am now trying to save my life. This is the true reality of breast cancer.

Ladies, go ahead and play Candy Crush, but please leave the games behind when it comes to cancer. I won’t be participating in the game myself. I would rather share facts about breast cancer and my own experiences, making a real connection with others. As Craig Groeschel states in his upcoming book, Divine Direction: 7 Decisions That Will Change Your Life:

“When you decide to connect with people, you change the story you will tell one day.”

As I review my online life, I would like to be able to say that I had honestly connected with one woman than to post hearts to thousands. If even one person becomes an advocate for their own health or for others living with the PTEN mutation and/or cancer, then I am happy.

If you receive the message on Facebook asking you to share a heart on your timeline, maybe take the time instead to share a website that provides facts about breast cancer that might benefit your friends. Dare to make that real connection with others and potentially save a life.

Below are some great websites that you might share on Facebook:

The Underbelly

METAvivor

Nancy’s Point

The Cancer Couch Foundation

The Pink Fund

Male Breast Cancer Coalition

Metup

High Anxiety

high-anxiety

I must admit that I have never watched High Anxiety although I have attempted to do so in the past. The humor and movie references were way, way above me at that point in my development.

Still, the title is very appropriate for me these days.

While in the surgical waiting room before my bilateral mastectomy in December, I was anxious about the procedure. I did not want to have the surgery and was uncertain about my life afterwards. As a result, I found myself sobbing and bent over the trash can in the waiting room while the older men and women who sat in chairs around me just stared at this hopeless wreck of a woman.

I have never been like this.

And today, I had a similar experience before my two appointments with my medical and radiation oncologists. Weak and ill, I yet again became sick before we even drove to the hospital.

I managed to make it through my appointments, though. I found out more about the staging and biopsy results today. The cancer is officially Stage 3B, with a small margin of cancer remaining in the muscle and two positive nodes. Both doctors reiterated the high possibility of a recurrence or future metastasis of this cancer.

Before the radiation oncologist treats me, she will be researching PTEN and any related risks involving this. There are additional problems in that she will be treating the same area that previously received radiation treatment in 2004. Right now, though, she believes that the risks of the cancer outweigh any risks of the treatment itself.

Honestly, I’m tired and frustrated at this point. Anxious too and feeling alone in all of this long, drawn-out process.

Being a “brave” cancer patient can be exhausting, to be honest. That’s the real truth of it all. I admit I don’t like the current plot of my life, but I’m hanging on to the hope that is stated by Craig Groeschel in his upcoming book, Divine Direction: 7 Decisions That Will Change Your Life:

“I am not a quitter. With the help of my God, I am a finisher.”

May things be better tomorrow, with a new outlook and a fresh hope so that I can be a finisher too.

What We Leave Behind

what-we-leave-behind

Last year was…well, it was kind of a whirlwind of badness, sweeping me up and tossing me overboard in its wake.

I had known for awhile that something was wrong. Lesions appeared on my breast, the breast that had been treated previously for breast cancer in 2004. I preferred denial to action and so ignored it. For too long, that’s for certain.

After finally calling the doctor and getting a biopsy of the now multiple bleeding sores, I found out that I had stage 3 inflammatory breast cancer. As this was a totally new cancer and not a recurrence, insurance paid for a second genetic test. With the latest advances in genetics, I was diagnosed with PTEN Hamartoma Tumor Syndrome, or Cowden Syndrome.

At some point in my treatment, I talked with my husband about our future. “I may not make it this time,” I said. After a moment, he sadly replied, “You may want to think about writing things down, stuff that you want people to know.”

And so I began publicly journaling my thoughts and emotions on my personal blog, Stories from This Life. With the new year and a “new” me after a bilateral mastectomy, I thought I should go one step further and create this blog.

So here I am. The blog may be new and shiny, but I’m more than a bit scarred. And maybe scared as well.

Perhaps when you think of hereditary breast cancer, you only think of BRCA. Well, I am proof that another gene can be the cause of breast cancer. And not only one type of breast cancer, but multiple. And lots and lots of other sorts of tumors.

I don’t have any professional medical knowledge. I’m just your average Jane who has had her share of surgeries and illnesses. So please don’t look to me for advice on your own care.

But if you need a friend with Cowden Syndrome and breast cancer, you may have just found her. I’m glad you’re here.