Monday, September 25, 2017

Count Me In!

I first learned of the Metastatic Breast Cancer Project in October of 2015. Last month I decided to complete their questionnaire to determine if I was eligible for their current study. Turns out, since my cancer has responded to a particular therapy for an extended period, I was. The study is not intended to help me live longer, but to help those that follow me.

A year after its 2014 inception, the Metastatic Breast Cancer Project began collecting metastatic breast cancer patients’ DNA from across the United States of America. The project’s goal is to find understanding of the cellular complexities of metastatic breast cancer and to compile all the information gathered into one data base for all cancer researchers and the National Institutes of Health to use in the understanding and advancement of these complex set of diseases.

The Broad Institute of MIT and Harvard are funding and housing the research. Dana-Farber Cancer Institute and several advocacy groups are collaborating with this project. (Advocacy groups: MBC Alliance, MBCNetwork, Avon Association, LBBC Living Beyond BC, Young Survival Coalition, Inflammatory BC research Foundation, Share 40, the Male BC Coalition, Theresa’s Research Foundation, Triple Negative BC Foundation, IBC, A4BC, Metavivor, Metup, Tigerlilly foundation, Susan Komen, BCRF, Dr. Susan Love Research Foundation, BCSM, Hope Scarves)

The leader of this project are Nikhil Wagle, MD and the director is Corrie Painter, PhD.

If you are a metastatic breast cancer patient, you can go to the project’s website where you will be asked to fill out a questionnaire, MBC Project. From there—if you are eligible for the current study—you will be asked to give permission for the research team to collect your medical records and tumor samples—the DNA from those samples will be sequenced. Next a saliva kit will be sent to your home. You mail it back to them and the research team will capture the normal cells from this sample and conduct DNA sequencing on those cells. The researchers involved are hoping to discover specific DNA changes (mutations—alterations, deletions) and germline information (inherited) that are involved in metastases in hopes of leading to a better understanding of the disease variations so better treatments can be developed allowing for better control of this disease bringing longer lives to those affected.

Here is what you will find in your kit. The hardest part for me was producing the saliva which goes into a small tube and once closed mixes with a solution.
It took some effort but in 30 minutes my tube was shaken and packed into its box ready to be mailed.

The first set of patients to be studied are those presenting with de novo (stage IV at initial diagnosis) and extraordinary responders (those who have responded to a treatment for a longer than expected period of time—2 years + on one drug). Future studies will include young metastatic patients and those patients who do not respond to treatments (drug-resistant). 

If you have metastatic breast cancer and complete the first 16 questions about your cancer and the treatments you have received, you will get updates about the research as new information is found. And, if you are not eligible for the current studies, as the research expands you may be included in future studies.

Update:  My insurance denial has been appealed. Tomorrow I will receive my 57th infusion of TDM-1!

Wednesday, September 13, 2017


When I was diagnosed with metastatic disease in 2013, my most significant worry was about progression of disease and the end of my life. Today, and over the last several years, I am living with stable disease. That stability has given me time to worry about those issues while also worrying about others as well. One of those “others” is my health insurance coverage.

The topic of healthcare and health insurance for Americans is a topic I wish I could avoid. It is a daunting subject of study full of political rock throwing and posturing done to persuade people that a certain plan will be best for a country with 324 million people. Getting as many people as possible to pay for an insurance plan allows for larger sums of money to be placed into a figurative pot that then can be used for those hopefully fewer members of that pot who are in need--that part is easy enough to understand. But the details of how it should be implemented, who the money should be distributed to, what dollar figure for premiums is actually affordable for the largest number of people, how to fund those that cannot contribute, and what health conditions and medicines insurance companies should cover makes for a complicated mess that is not easily agreed upon. 

The way I see it, conversations concerning healthcare and health insurance must not neglect how government agencies and private insurance companies will manage paying for every desire that people have in terms of the prevention and the treatment of illnesses. The main obstacle for everyone getting what they want from any system is money; it is finite. I wish there was an unlimited amount of it, but there is not. Because of that fact the inevitable yes's and the no's in the care of an individual's health are unavoidable. No matter how hard we wish it were so and no matter how much each of us may want to help the sick and want the government and insurance companies to pay for every person's illnesses endlessly simply isn't possible. Decisions to treat or not to treat happen every day. So, in determining where best to spend the available funds means that someone somewhere will be left with nothing but hope. Hope doesn’t have any purchasing power. That someone could be me. 

This post, though, isn't about the big picture of health insurance and healthcare in America. It is about my experience in it so far.

My health insurance is purchased through my husband’s employer. Every year his company negotiates a new contract with Blue Cross Blue Shield of North Carolina. So far, the changes have been minimal. The deductible has remained high causing financial woes for my family, but the benefits package has remained the same allowing me to receive the necessary drugs, surgeries, scans, genetic testing, and radiation needed to keep me alive. For that I am extremely grateful. With every change, I worry that a denial of coverage for some aspect or all of my treatment will come my way. On Friday, my worry became reality.

I received a large white envelope, and in that envelope I found words. Words that others have faced, but I had not until that day. There, throughout the first two pages, I read “. . . notice of an adverse benefit determination . . . declined to provide benefits . . . ”  I found that someone in the medical review department of my insurance company decided my current treatment drug “does not meet the definition of Medical Necessity found in the member’s benefit booklet.” Wow, so many words when one was all that was needed. The ugly one. The big, black, bold lettered one saying—


And, I must let it be known, the denial is for a treatment that I have already had. That makes sense, right?

I knew what was coming as I read, but with all those extra words, for one hot second I thought maybe this wasn’t a denial notice. Yet, it was.  

Page two read with more words of denial: “. . . coverage of ado-tratuzumab emtansine (Kadcyla) is denied.” Further down, I read, “ado-tratuzumab emtansine is considered investigational when coverage criteria are not met.  . . . found insufficient peer-reviewed medical literature to show a beneficial effect on health outcomes compared to established alternatives. The member’s policy does not cover investigational services.”

Investigational? Kadcyla? What are they talking about? I have been on this drug for 3 years and 3 months.

I soon sent a message to the nurse navigator who works with me at the hospital where I receive treatment. She responded by letting me know she was contacting the people who will help me tackle this problem and get it appealed. Surprisingly, I felt calm that day believing the denial would be reversed. But, today, the heaviness I am feeling inside my chest caused by this denial further reinforces my ongoing fear that at any time when it comes to my treatment, someone will always be making decisions about it. Decisions about whether money should be spent on me or someone else.

How hard it is for me to accept that my existence is controlled by a disease and by the decisions of everyone connected to me. I mourn those lost days of which I believed I was in control of my living and my dying--oh, how naive. 

Until this issue is resolved, my treatment #57 of Kadcyla (TDM-1) has been put on hold. 

Breathe . . . I just need to . . .


Monday, August 21, 2017

Health Update with Genetic Testing Results

My genetic testing reveals no inherited mutations, deletions or alterations to BRCA 1, BRCA 2, or the PALB2 genes—yea!

However, I do have a misspelling of another gene possibly playing a role in colon cancer. At this time it is considered a variant with unknown significance. As time moves along and more people are tested, this variant may reveal a trend moving toward or away from its importance in causing colon cancer. For now, there is no need for me or my children to worry about it. (I already get CT scans as screening.) For my two sisters, it was recommended they have genetic testing or at least have a colonoscopy. (The prep for that is most unpleasant.) 

This Sunday, I will have treatment #56 of TDM-1 (Kadcyla). In May of this year, it was my three year anniversary of my relationship with this drug. I am always grateful to be able to have treatment and even more grateful that this treatment has continued to work for me, but I must confess I am feeling tired these days. And, although it can be quite funny sometimes, I have trouble finding the right words when I talk or worse say the wrong word and not realize it. I will blame it all on my treatments for now—though I have no evidence to support its effect on my brain. Other than that, life is pretty darn great. 

"Lynch syndrome is an inherited condition that increases your risk of colon cancer and other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC)." see here .

Thursday, July 20, 2017

Genetics--BRCA 1 and 2 plus PALB2

Please consider: If you or your child has not been diagnosed with cancer and feel you are at risk for any cancers because of family history, DO purchase life insurance before pursuing care for a potential diagnosis and before any genetic testing that could lead to a positive result if it would be helpful to your family. Positive results may inhibit your ability to get life insurance.

I met with a genetic counselor on 7-17-17. Our conversation was informative causing me to have one of those “what if” moments. When I was in college in the 80’s, I entertained the idea of pursuing genetic counseling as a career, but in the end did not. To this day, I continue to find genetics fascinating. This post is my attempt to simplify a very complicated genetic condition found in some breast cancers. If you have any questions about the BRCA 1 and 2 genes, please speak to a geneticist for clarification.

All cancers are genetic, but not all cancers are inherited from a person’s parents. Hereditary cancers make up around 10% of all breast cancers. The other 90%, as far as scientists know presently, are random mutations or possibly caused by certain environmental exposures.

In each of us, our cells hold the code that make us who we are. This code is called our DNA. In it are 46 chromosomes—23 from our mother, 23 from our father. Within each chromosome are different numbers of genes. Chromosome #1, for example, is large and has approximately 2,000 genes. Each gene holds instructions to create proteins that tell cells what to do.

In breast cancer, two inheritable genes were discovered in the 1990’s—BRCA 1 & 2; BRCA stands for BReast CAncer. More recently, geneticists found another gene called PALB2—Partner And Localizer Breast cancer 2. It partners with the BRCA2 genes. A person who has a mutation on any of these genes—inherited or not—has a higher risk of having breast cancer.

BRCA 1 and 2 are tumor suppressor genes and their particular proteins handle the DNA repair which work to stop cells from becoming cancerous. These two important genes when working properly monitor DNA mutations throughout the various phases of a cell’s life.

The PALB2 gene affects how the BRCA2 gene works. Sometimes, the BRCA2 gene will have NO deletions or alterations, but there is an alteration or deletion of the PALB2. This can shut down the BRCA2 gene’s efforts in preventing a cancerous cell from developing. Once that cell becomes cancerous the damaged PALB2 gene allows for the continued replication of the mutation because it is no longer working with the BRCA2 gene. That is why drugs for this problem are called inhibitors; in this case PARP inhibitors. Those drugs stop the PALB2’s influence on the undamaged BRCA2 gene so it can once again do its job of stopping cancer. 

During my meeting with the genetic counselor, she drew a picture showing how the BRCA 1 and 2 genes work in breast cancer.

Here it is:

This is my understanding of what she explained to me concerning these genes:

We inherit two BRCA1 genes and two BRCA2 genes; one of each from our parents. (The picture shows 2 copies of either the BRCA 1 or 2, and this simple drawing demonstrates two situations that can occur. The small x’s represent alterations or deletions of these genes.)

When we inherit two perfect copies of the BRCA 1 and 2 genes—as the upper part of the drawing depicts—any future breast cancer would not be caused because of an inherited altered gene.

Though a person did not inherit a damaged gene, sometimes a mutation can occur in one of the paired genes in our 30s or 40s. As long as its partner gene is still working, no breast cancer will arise from this mutation. But if the partner to the pair becomes defective during a person’s lifetime, breast cancer can appear in a person around their 70’s or 80’s.

If we inherit one defective BRCA 1 or 2 gene—shown at the bottom of the picture—the other paired gene could become mutated in our youth, causing breast cancer to arise in a person’s 30’s or 40’s. The risk of breast cancer is increased but does not mean it will occur.

If we inherit two altered or defective genes in either the BRCA 1 or 2 pairings, there is an even greater chance that breast cancer will arise.

In 2005, I had testing for the BRCA 1 & 2. My result was negative. Today that testing is considered incomplete.

Monday of this week, the genetic counselor and I reviewed my, and my family’s, medical history to see if further testing would offer helpful health information for me and my children—I have three daughters and one son—sons are less likely to have the disease than daughters, but their risk is not 0%. For your information, here are the family relations and my history that made me a candidate.

In women, breast cancer has been linked to certain ovarian, melanomas, and pancreatic cancer with ovarian cancer being the most often diagnosed disease. For men, prostate cancer becomes a possibility.      

Since my mother had ovarian cancer at age 35, and I was diagnosed with breast cancer at age 41, our young ages turned on alarm bells to pursue further testing. My mother’s ovarian cancer could be related to her mother’s uterine cancer. However, my cancer is most likely not linked to my grandmother’s uterine cancer but could be linked to my mother’s ovarian cancer. So, there are two reasons to proceed with further testing on me especially now that testing can find that third defective gene.

Confused? I hope not. But, if you are keep in mind, genetics is complicated.

Inheritable genes can come down on the father’s side as well. In my case the diseases that people have had on that side of my family do not indicate any possible inherited gene related to my breast cancer. For me my mother’s side holds the only possible connection to an inherited condition.

Since every cell has the same DNA, testing for a genetic link to my cancer can be done by sequencing the genes in my blood cells. Before my infusion on Monday—infusion #54 of Kadcyla (TDM-1)—two vials of blood were filled to be sent to a lab for testing. 

In my case the geneticists will be looking at 19 genes that could have played a role in my breast cancer. The only one that could be targeted for treatment currently is the PALB2 where a PARP inhibitor could possibly be used in my treatment plan.

Because the likely hood of inheriting a defective BRCA gene is low, most results from this type of testing are negative. Positive results are small and results of unknown variants are small as well. An unknown variant result means no one knows if that information has any significance to a person’s diagnosis of cancer. It could be important in the future, especially to offspring, but for now it is filed away to be brought forth if it shows up again in another person’s DNA sequencing.

The geneticists that accompanied the counselor explained to me the company Invitae that will be handling my genetic test believes in making data accessible to all researchers. This allows all research facilities to work together to determine if any variants found might in the future be connected to breast cancer. The geneticist made a great case for why data sharing is important among scientists as opposed to companies keeping data in silos making any data inaccessible to other scientists as well as to patients. Hiding the information slows down progress and hurts current and future patients.

I will have the results in three to four weeks and will provide an update then.

I must say, this waiting is far easier than the waiting for the results of a scan.


Tuesday, June 27, 2017

Unbelievably Beautiful!

A sleepless night of worry that my luck had come to an end turned out to be just another sleepless night. My scans were UNBELIEVABLY BEAUTIFUL!

Today, I continue to question if what I was told yesterday is my reality.

But, it is!

Happy! Happy! Happy!

I can't explain it any other way.

Saturday, June 17, 2017

I Want To Be Heard

We were riding the train in the Cincinnati airport after a long weekend of family tied together by people from long ago. My stop was terminal A, hers terminal B.

As my stop approached, the two of us standing beside each other holding onto individual poles preventing us from falling, my aunt looked at me and said, “I couldn’t read your blog.”

Before that moment, I assumed she had forgotten I had a blog. On our second full day together I learned that she did not understand stage IV breast cancer is terminal asking me, “So what is your diagnosis?” So, bringing up my blog at the very end of our time together did not exist on the list of things I expected her to say.

I quickly jumped into protection mode not wanting to hear any negatives about my writing. “It’s okay,” I said. “I was really depressed in the beginning. It isn’t so dark now.”

Because I was able to get to know her better over those few days, I know now she was not bringing to light any negatives about my blog. She brought it up to tell me she now understands why I have a blog.

The train stopped. Before I departed my aunt said, “I think you want to be heard.”

Nodding my head I said, “Yes, I think I do.”

We hugged goodbye. I departed the train giving more thought to what she had said, the doors closing behind me.

She is right. I do want to be heard. I want to be heard, but I want the people who are part of my life to want to hear me. I don’t want to force it upon them in conversation. I want them to take time out of their day to read what I write because they care about me even if it makes them uncomfortable.

I have long suspected that the very people I wanted to read my blog did not. Those family members were the people I targeted when I first began to write--along with a few friends. My expectations of what I think family should or should do or be to one another are often much higher than what reality actually gives me. This is proof of that.

Maybe I am asking too much. My want for people to read my blog so they understand my emotions connected to my death is perhaps more than they are willing or capable of doing. Breeching the subject can be highly emotional. It could cause me pain and pain for them as well. The conversation of death is often avoided because dipping your toes in it may cause a dam to break. Staying clear keeps everyone from drowning. There is a great need to protect against that. I get it.

On occasion I have slipped into a conversation with a family member about my disappointment that no one except my two oldest daughters read my blog. That little push has caused them to take a moment to let this part of my life into theirs. I might hear something small about it the next time I speak to them but after that, nothing.

I feel selfish feeling this way. There is nothing so special about my thoughts that must be read. But I do want to feel as if my thoughts and words matter to them. Then, maybe, once in a while, when they are telling me about their lives they might acknowledge that my world is different. One where I have to consider I might not be here next year while they get the luxury of planning their future years not aware as I am of a timeline with an endpoint in the not so distant future—statistically speaking. The two perspectives are vastly different.  

So yes, dammit, I do; I do want to be heard. I want people to know what I am going through. That I am scared, hurt, and full of pain, rage and self-pity for a disease I cannot control. And I am jealous, yes jealous, that the people in my life can pursue things that I will never be able to.

Yes. I want to be heard. As another scan approaches--June 26th-- my fears are enhanced. That day I must rise much too early in the morning and journey to a machine revealing my future is the day I need to scream into the universe because I don’t know what else to do. This blog lets me do that. I am screaming in this post. My life and my death are racing each other.

I need to give away my grief. Put it out there so I don’t feel alone trying to live as I do constantly having my death hovering over me. It never leaves my thoughts, how can it?

I carry cancer with me, everywhere. I carry the thought of dying, everywhere. When I am tired, my defenses are weakened and can easily reveal on my face my feelings if prompted by the right stimuli. When everyone around me is struggling to be heard about the things that are bothering them, I am struggling too to keep myself from letting loose and scattering all of me in front of them. I am losing so much; I am losing my life. I am not ready to die. There is so much I want to do.

My words strung together from thoughts in my head matter to me. Maybe I shouldn’t care so much that my loved ones hear them. But I do. They are my words expressing how I feel. Sometimes I just need validation they care. 

Somehow, I thought my loved ones would want to hear my pain and offer me soft words when I needed it. I was wrong about that.

We are all islands living among each other and not really stopping to listen to what the other needs to say. I too am guilty of forgetting to listen, but am trying to correct this mistake whenever I can. I think we all want to be heard and want our feelings to be important. 

So it is to my two now grown daughters, to a few friends who have let me know they read my blog, to those people I have never and will never meet, and maybe one day to all of my family members that I want to say thank you for giving me some of your time. Thank you for reading my blog and for listening. I do need to be heard by someone, anyone.

You are it.

Friday, May 26, 2017

Genetic Testing and Lympedema

The American Society of Breast Surgeons held their annual meeting in Las Vegas, Nevada on April 26-30th. See here  There were two updates reported that directly affect me: Genetic Testing and Lymphedema. 

Genetic Testing
When I was diagnosed with stage 0 disease (DCIS) in 2005, I was offered genetic testing due to my family history. My mother was diagnosed with ovarian cancer when she was 35 years old. She never saw the return of that cancer, thankfully. Her mother survived uterine cancer.

My husband and I discussed the testing and what it would mean for our children. The possible genetic link and their futures in terms of cancer were relevant. We felt we needed to know. If I possessed an inherited gene, my children could be tested, and if it were found they too carried the same gene, close monitoring of their health could begin.

Luckily, the testing came back negative. At the time I thought another benefit of the testing might result in a family member stopping their use of genetics as a weapon against me for potentially causing my children harm. I felt enough guilt. He didn’t stop; sometimes people can hurt one another because they don’t think. Nevertheless, I felt better.

Months ago my Physician’s Assistant suggested I consider genetic testing again as technology has improved and there are more genetic mutations to look for now. In 2005, the test I underwent only looked at BRCA 1 and 2.

After reading the new guidelines from the meeting of the American Society of Breast Surgeons, I was surprised concerning all the possible mutations now found through testing. I felt the pain of fear stab me at the same time because of what I might find out through more testing. You can find more information here . The mutations are: BRCA 1 & 2, TP53 (Li-Fraumeni syndrome), PALB2, CDH1, PTEN (Cowden syndrome), CHEK2, ATM, STK11, NF1, NBN. The guidelines indicate what measures should be taken to monitor and possibly prevent breast cancer driven by these mutations. Mammograms and breast MRIs help to monitor for disease. Mastectomies, chemotherapy, and hysterectomies try to prevent it or control it once it occurs. As I read the report, I learned about other types of family cancers that put people in the high risk category for breast cancer. These cancers can have these particular mutations and include: pancreatic, colorectal, ovarian, prostate, thyroid, kidney, endometrial, gastric, male breast cancer, and an osteosarcoma brain tumor.      

In July, I will see a genetic counselor to further evaluate my case. I will write about the results of that meeting and/or testing when or if it occurs. 

Note: Errors can occur in testing. 

My first surgery for breast cancer in 2005 involved a bi-lateral mastectomy and the removal of two right-sided axillary lymph nodes. The nodes were negative. Round two, in 2009, a tumor that appeared near the center of my chest was removed in my breast surgeon’s office. My surgeon wanted to make sure there was no more cancerous tissue where the tumor had grown so she scheduled surgery, removed more tissue to be viewed under a microscope and also removed another lymph node. It too was negative.

Before surgery we discussed the possibility of lymphedema. She informed me that if the lymph node she was planning to remove held cancerous cells she would have to remove more lymph nodes. I was quite distressed. I had seen the pictures of severe cases of lymphedema. Avoiding it was high on my priority list. In the end, I have had three lymph nodes removed.

Not long after my surgery as I was going through radiation and chemotherapy, you guessed it, I developed lymphedema. At first it was mostly in my fingers and the top of my hand. I could push my finger tip into the top of my hand and pull it away and the finger impression would remain. A clear indication that indeed I had what I had feared. It eventually moved into my lower arm as well.

July 2010
In this picture, you can see my lymphedema is a mild case, but from my point of view, it was huge; I cried many tears over it. I hated my hand and arm. It was a constant reminder of what was happening to me. There were moments I wanted to cut it off thinking I would be happier with myself if my arm was gone. Strenuous activity like yard work made it swell even more. I spent hundreds of dollars—my insurance did not cover any of the compression supplies—on wraps, sleeves, and gloves trying to find what worked best for me. I went to a physical therapist to learn how to wrap my arm and hand correctly and to perform lymphatic drainage. Every night I elevated my arm and would try to stimulate the tissues and the lymphatic channels just under my skin with soft circular motions performed by my other hand. I started with my fingers and worked up to the top of my arm and chest hoping to send the swelling away. I couldn't tell if any of it was helping. I began to think that all of the help I sought was useless. This was something I had to figure out.

My plumbing issue of not having three lymph nodes where my lymph fluid entered and exited my arm gave me little hope of ever having a normal appearance again. After finally figuring out how to manage the swelling in my fingers and the top of my hand by wearing a glove purchased here in which I inserted padding for added compression, somehow after the onslaught of Taxotere and the year of Herceptin, I began to see veins in the top of my hand again. If I held my fingers together, light would shine between them. Could it be true? Was my lymphedema getting better?

It was.

Round number three came along and again I was treated with Taxotere, Herceptin and a new drug, Perjeta. My lymphedema worsened. Again I donned a compression glove and sometimes a sleeve. A year later my treatment switched to Kadcyla (TDM-1) and my lymphedema improved. My right hand will never be as small as my left hand, but as long as I can see the veins in the top of my hand happiness fills me. 

An article here reported on an interview with an attendee of the American Breast Surgeons meeting. Sarah McLaughlin, MD, a surgeon at the Mayo Clinic in Jacksonville, Florida said Taxane-based chemotherapies (Taxotere, Taxol) may contribute to lymphedema—of course axillary lymph node removal and radiation are still part of the equation. It appears that I was on to something in thinking maybe my chemotherapy treatment was worsening my condition.

Today, my hand and arm look like this.

May 2017

My fingers are still larger than normal, and my right hand is bigger than the left, but I don’t cry about it anymore nor do I wear a glove or sleeve.

If you have lymphedema, chemotherapy could be—in part—responsible. The best news is, it might get better after treatment with a Taxane is over, at least a little.

(I just discovered this company, LympheDIVAS, now have compression gloves instead of only gauntlets like they used to carry and can be purchased through Bright Life Direct! I have not tried them, but if my lymphedema worsens I might get a little crazy and try something fun. Nothing cheap about these, but they have wonderful patterns and colors. Check it out here . I found Bright Life Direct's plain tan gloves to work best for me.