Gene Discovery, Patents, and the Community

Recently a dear friend sent me a link to an article in the February 1996 issue of Nature Medicine. The article by journalist Adam Marcus covered a media event and panel of women’s rights advocates expressing concern about Myriad’s impending patenting of the BRCA1 gene. Panelists declared unregulated genetic testing to be the coming century’s foremost threat to individual liberty. Incredibly, 17 years after the publication of Adam Marcus’ article, the debate is still ongoing—the issue of gene patenting and the consequences of lacking regulation regarding gene patents are still present and as relevant as they were then.

Admittedly, I missed this article the first time around. In 1996, I was more likely to be reading the Journal of the American Veterinary Medical Association than a human medical journal. With a toddler, a budding veterinary career, and no significant family history of breast cancer, my focus was not on hereditary cancer. In fact, genetic testing and gene patents were furthest from my mind. But my diagnosis with breast cancer eight months later and subsequent revelation that I have a BRCA2 mutation changed that.

When I was first tested for a BRCA mutation in 1998, I was fortunate; my testing costs were covered by my health insurance. I was very grateful to have access to the test; my gratitude extended to the laboratory that made the test available to me. Although I was initially tested without genetic counseling, I went to MD Anderson Cancer Center for a second opinion and eventually found my way to a genetics expert and had access to up-to-date and credible information from experts. It wasn’t until I became immersed in my work with FORCE that I became aware of deeper issues that were the consequence of Myriad holding patents on the BRCA genes.

In 2009, Joanna Rudnick released her documentary In the Family, which shined a spotlight on Myriad’s gene patents and some of these consequences. The documentary included an eye-opening interview with Dr. Mark Skolnick, founder of Myriad Genetics. Joanna questions how a gene—a product of nature—can be patented, saying “It’s like patenting your thumb.” Skolnick compares Myriad’s patents on the BRCA genes to patents for ipods, telephones, and computers, and cavalierly asserts “there’s no controversial patent. It’s all very easy to understand if you take the time.”

In the film, Joanna brilliantly follows the Myriad interview with an interview of Dr. Mary-Claire King, who was credited with identifying the location of the BRCA gene when she was a researcher at University of California at Berkeley. Dr. King has dedicated herself to the research that proved the existence of hereditary breast cancer gene mutations. Her research laid groundwork that sent many laboratories racing to be the first to isolate and clone the gene for genetic testing.

In Rudnick’s film, Dr. Skolnick says, “I think the single greatest inventive thing I did was to create Myriad. We did it to win the race…and we won.” Asked point-blank why the cost of the test is increasing, Dr. Skolnick replies, “that’s a good question, and I think there’s a point at which we have to start looking at decreasing the cost of the test.” Yet, four years after the documentary was released, the cost of testing has gone up—BRCA testing is more expensive, even though the technology for sequencing DNA has become less expensive.

The gist of Dr. King’s interview starkly contrasts with Dr. Skolnick’s statements. Dr. King speaks about genes for which she holds patents, saying, “The critical thing about the patents we hold is that none of them are exclusively licensed. So they are completely open for anyone to use for research purposes and any company that wishes to license them can license them for a trivial amount of money.” King mentions that her last royalty check amounted to $2.73. In contrast, the February 6 edition of the Salt Lake Tribune reports Myriad’s earnings: ”Myriad projects full-year 2013 revenue will fall between $575 million and $585 million. That would be a 16 percent to 18 percent increase over fiscal 2012.” The contrast is apparent and appalling.

Over the years, FORCE has appealed to government agencies and spoken to the health care community and the public regarding Myriad’s exclusive patent, and explained how the corporation’s marketing strategies and policies have increased the burden on the hereditary cancer community that we serve. In 2008 and again in 2009 we testified to the Secretary’s Advisory Committee on Genetics Health and Society, expressing our concerns with direct-to-consumer marketing of genetic tests, and specifically Myriad’s marketing practices, which we feel encourages BRCA testing without first receiving genetic counseling from qualified experts trained in cancer genetics. In our opinion, their aggressive marketing strategies have been harmful to members of our community.

In 2009, the American Civil Liberties Union filed a lawsuit challenging Myriad’s patents on the BRCA genes. On April 15, 2013 the U.S. Supreme Court will hear oral arguments on gene patenting. This hearing will represent the culmination of four years of the legal tug-of-war between Myriad Genetics and the plaintiffs, which included the ACLU and a long list of individual, advocacy, and health care professional groups. FORCE agrees with the ACLU that exclusive gene patents negatively affect access to care and research and we have filed an Amicus (Friend of the Court) brief on behalf of plaintiffs. You can read our testimony to the United States Patent and Trademark Office on the topic of how exclusive gene patenting impacts research and access to care. The Supreme Court oral arguments will be open to public participation.

For those who wish to learn more about Dr. King’s work, Decoding Annie Parker is a new  movie that follows the parallel lives of Dr. King and Annie Parker, a Canadian woman whose family was impacted by hereditary cancer. Based on a true story, the film raises the profile of Dr. King’s contribution to the discovery of hereditary breast and ovarian cancer syndrome and the BRCA1 gene mutation. It is sure to resonate with many in our community. FORCE is a proud charity partner of the movie, which stars Helen Hunt as Dr. King. A special screening will be held April 2 in New York City. FORCE will hold  screenings of the film in other cities. Stay tuned for updates.

A Healing Light From Within

Below are excerpts from our Joining FORCEs conference welcome address and a keynote talk that I recently gave in Chicago.

Fifteen years ago, there was no FORCE. Back then, hereditary cancer was scarier and lonelier than it is today.

When I was first diagnosed with breast cancer at age 33, it was caught early. I was very lucky to have been diagnosed, since I had no family history of breast cancer, and breast cancer was not on my radar. I was very conscientious about my health, and I found a lump on my very first breast self-exam at age 29. The lump was benign, but it was the reason I was having mammograms by age 33, even though I was not considered to be at high risk. My son was almost two, and Dan and I were getting ready to get pregnant again. I went down the list of things you do before getting pregnant: take folic acid, see the dentist, get a mammogram. That mammogram found microcalcification, which led to a biopsy, and then another biopsy that showed very early breast cancer called “ductal carcinoma in situ” or DCIS.  I was fortunate, as I hadn’t needed any further treatment beyond a mastectomy (unilateral), which was recommended because the amount of precancer that was throughout my breast.

I remember attending a Komen Race for the Cure walk three weeks after my mastectomy and looking out into a sea of pink caps and bald heads, and thinking “that isn’t me, my cancer was caught early.” I isolated and insulated myself and kept those other women at arms length, unable and unwilling and too afraid to define myself as someone with cancer. It made me too vulnerable and I didn’t want to be vulnerable.

Nine months later at age 34, my cancer returned in my lymph nodes. I learned that my original health care team had let me down. What they thought was early-stage breast cancer was actually invasive breast cancer that had already spread to my lymph nodes by the time of my mastectomy. Then they let me down a second time by never mentioning hereditary cancer or genetic counseling and testing. Through a chance reading of a magazine article on Hereditary Breast and Ovarian Cancer Syndrome and BRCA mutations, I learned that I carried some of the indications for genetic counseling and BRCA testing. Back then, I didn’t know how to advocate for myself to receive the best care. That lack of knowledge could have cost me my life. When my cancer recurred I knew that I only had one more chance to get it right, and I sought out the best health care experts I could find.

Like the women I saw at that first walk, I lost my hair with chemotherapy.  Suddenly, I was very vulnerable and afraid as I found myself on the other side of the looking glass, the side I had tried to protect myself from through denial and (regretfully) indifference.  While in chemotherapy I traveled to Los Angeles and stayed with a family friend. She was from a generation that didn’t like to talk about cancer. While we were out for a walk, she ran into an acquaintance, who she introduced to me. Right in front of me, nodding at my bald head, she whispered to her friend, “it’s cancer” as if I couldn’t hear her, or as if not saying the words aloud would protect her from it.

It jolted me and hit me, how different I was from the healthy world. I was a young woman with cancer. I knew that there were others like me, but I had never met them. The whispered words made me recoil, I felt diminished, stigmatized, devalued. But I also rebelled against these feelings.

With my genetic testing, that stigma grew. I learned that I had a BRCA2 mutation. Even the word “mutation” seemed alien, invasive, intrusive. How could something so dangerous and damaging be an integral part of me, of my DNA? I had to find a way to redefine and reconcile those aspects of myself in order to move forward in my journey.

I started writing a poem that I dedicated to all the people who were facing that type of stigma. I entitled my poem “Beyond Survival” because for me, surviving wasn’t enough. The poem was about transcending adversity and stigma, and becoming whole. I won’t share the entire poem but here are a few lines:

Beyond Survival

Our hearts flutter but beat strong,

with the will within us to go on.

To not just survive, but to achieve,

to aspire to inspire; to soar, to believe

that we can make a difference.

Shout it emphatically, the sound

of our existence echoes and resounds

ascends and transcends the farthest bluff,

resonates in crevices where ignorance hides

and divides us.

Do not feel devalued, do not cower.

As long as we draw breath, we’re empowered.

Despite these brave words, after finishing treatment, I suffered from depression. I was afraid that my cancer would recur quickly as it had the first time. These were some of the darkest days of my life, even worse than when I was first diagnosed, and when I had my recurrence. My family suffered with me as I didn’t have the energy or engagement in life that my husband and young toddler deserved. I wanted to be well, but I didn’t know how to get there, so I withdrew. I could have easily stayed in that world of sadness and fear, but around that time I purchased my first computer. I reached out via the Internet to others in online cancer forums, and connected with people like myself who slowly drew me out of my sadness and hopelessness and gave me courage to continue on. They inspired me, but equally important, they needed me and leaned on me for inspiration and support. It was from these women that I learned how powerful, healing, and transformative receiving but also giving peer support could be. Although I had not yet started FORCE there was this kernel of thought that my emotional healing from cancer required reaching out to others and knitting a strong community of people who could unite in solidarity and oppose the forces that would diminish us. I wrote this poem for my online support heroes.

cancer, like a vacuum,

was sucking out my joy and hope

enfolding and enclosing me in an envelope

of despair and fear. 

In the distance I saw a steady glow,

heard a chorus growing closer

one light separating into many

descending on me,

a flock of angels

carrying torches, lighting the shadows,

voices singing, arms embracing, wings uplifting me.

I became one with this throng,

a thousand women strong.

In the distance a figure huddles

and shudders in a darkened corner,

we press onward swiftly towards her;

a thousand and one angels

comfort and support our newest member.

From that lonely kernel of thought grew the organization known as FORCE. Little did I know what FORCE would grow to become and mean in my life and the lives of so many. What I did know was that something needed to be done for me and for others to feel less alone! Whisperings in darkened corners are feared. Their shadows are made larger by the lack of light. But from the time of my recurrence on, when I threw off indifference and denial, I understood that if we could shine a spotlight bright on an issue we could remove some of the fear and ignorance, and that together we are so much stronger, braver, and resilient than we are alone. Fourteen years ago I founded FORCE on the principle that no one should face hereditary cancer alone! I was tenacious and passionate in my outreach and advocacy. I did everything I could to make sure that people received the information they needed to make informed medical decisions—information that I was denied when I started my breast cancer journey.

Part of the wonder of FORCE has been the steady growth of our community since then. No matter people’s situation, they are not alone! Our members draw the same strength that I have from belonging to the FORCE community. I believe that each of us carries some type of torch within us, a flame that sparks our passion and helps ignite the passion of others; a flame that we can use to guide other people who are facing darkness and despair. By joining together we have succeeded in illuminating hereditary cancer to create hope for a brighter future for ourselves and for our families.

The Cavalry Has Arrived!

When I founded FORCE in 1999 it was in the early days of BRCA discovery and testing. I had my own BRCA testing in 1998, over a year after my diagnosis with breast cancer, and only after learning about hereditary cancer by reading a magazine article about BRCA. I immediately understood the significance and power of identifying people with genetic predisposition to cancer, with the goal of preventing cancer or detecting it early. But the technology was met with suspicion and alarm by many individuals and groups, even in the face of emerging research that documented the value of identifying those with a BRCA mutation.

I spent a good portion of FORCE’s early years explaining why our community was important. Back then the hereditary cancer community was frequently dismissed or minimized, emphasizing the fact that we were a small subset of a larger whole. Granted, we don’t represent a majority of the cancer community, but we shoulder a disproportionate cancer burden. And because of our extraordinary high risk for cancer and the generational aspects of inherited cancers, HBOC individuals and families are an overburdened and under-resourced community. We require unique research and resources that provide information and evidence-based solutions for the extraordinary issues we face.

We worked hard in those formative years to raise awareness, unite our community, and assure that both survivors and previvors were acknowledged as cancer stakeholders who had a say and a place at the table. We fought for awareness, educated people on the differences between hereditary and sporadic cancer, advocated for better early detection and risk-reduction options, and helped people make informed decisions. Along the way, we were often asked to justify the prophylactic options for risk-management, and even the need for a hereditary cancer advocacy group like FORCE.

As awareness has grown, FORCE has grown, and so has our voice in the cancer community. And yet there are still many areas of unmet needs when it comes to hereditary cancer clinical care and research. Although improvements have been made, current options for prevention, detection, and treatment of hereditary cancer are still inadequate. Too many people are being diagnosed with and succumbing to hereditary cancers, and the path to drug development and FDA approval for example for PARP inhibitors has been glacially slow. After14 years of passionate advocacy and incremental and modest gains, it would be easy to be discouraged. But as many of you know if you read my blogs, I also like to focus on achievements and advancements, and there have been many.

Once in a while, I have had the privilege to witness a landmark event, a game-changer for our community. Last Monday night was such an event. I was honored to be among over 200 people who attended the opening of the new Basser Research Center for BRCA within the Abramson Cancer Center of the University of Pennsylvania. Established through a transformative philanthropic gift from Mindy and Jon Gray, the center is dedicated to the memory of Mindy’s sister, Faith Basser, who succumbed to hereditary ovarian cancer. The center is devoted solely to research and provision of care relevant to BRCA1 and BRCA2. Not a dry eye could be seen as we watched a video that included Faith’s story and how she became the motivation for her family’s endowment. The video also included stories of members of our community, who shared the devastating toll of hereditary cancer on their families. That night, all of us who attended and watched the video, listened to the speakers, and met the Basser Research team understood the center’s clear, overarching message: HOPE. I was witnessing history being made and a new era for the HBOC community.

I was honored to be among over 200 people who attended the opening of the new Basser Research Center for BRCA

Certainly our community will continue to face challenges, hardship, disparity, and unmet needs. But we have champions and a path to a brighter and more optimistic future with the establishment of the first research center dedicated to the pursuit of better detection, prevention, treatment, survivorship, and supportive care for HBOC. As I told Jon and Mindy Gray when I thanked them for this amazing gift to our community, “the cavalry has arrived.”

Previvor Day: A Solemn Celebration

In searching for inspiration for this blog, I went back to the FORCE message boards to remember when and how the previvor movement began.  When I started FORCE, long before the organization and programs grew to the national influence that we are today, we were merely a message board, a way for people in similar situations to connect virtually. The Internet was new to me then, and the ability to reach out to virtual strangers remotely and receive comfort and guidance seemed novel and amazing. When I couldn’t find the support I needed in my immediate vicinity, I could reach out over the miles, type an SOS, and get instant wisdom, advice, and compassion. I could then draw from that support when and where I needed it (and back then I needed it a lot). Over the years many of these “strangers” have been my lifeline and many have become my dear friends. Fourteen years of survivorship later, I still periodically turn to my cyberfamily, but like many who have been part of our community for over a decade, time can sometimes softened the sharp edges of fear, loss, and grief that surrounded my diagnosis, recurrence, genetic testing, and surgeries and my accompanying need for support.

It has been a while since I revisited the archives of our website. With over 300,000 posts in our current database and over 300,000 archived posts, our message boards are the single largest repository of the hereditary cancer experience. These postings are a wealth of wisdom, support, kindness, grief, and gratitude. After 14 years of advocacy, it’s easy to focus on the challenges, the frustrations, and the problems we have yet to solve. So revisiting the past is healthy, and provides me with an opportunity to remember old friends and reflect on my growth and the growth of the organization.   Occasionally I will encounter a post that stops me in my tracks and reminds me of the sacred and transcendent segments of my own hereditary cancer journey and that of our members.

The last Wednesday in September has been designated as Previvor Day, and this year it happens to fall on Yom Kippur. The convergence of the two led me to two message board posts from over a decade ago that currently reside in our Pearls of Wisdom forum, where older timeless posts live so that others can revisit them when needed.

The first pearl addresses Previvor Day. In the “I need a label” thread, our dear “Jordan,” who was a regular on our message boards back then, articulated what many in our community were feeling—that although they did not have cancer, they had experienced decisions, losses, and procedures that separated them from average-risk women, but they did not have a cancer diagnosis. Jordan posted:

“Ok, I have to admit. I need a label. Do we have one? You know, those that have the gene but have not had cancer. The ones going through all this research and deciding on proph surgeries, or not. We need more of a voice and a label, a name. I’ve never been one hung up on labels before but a lot has changed for me since this process begun. I feel if we had a label we could begin to have more of a voice. What are your thoughts? FORCE? Breast Cancer __________ (fill in the blank).” 

Jordan, and the group of high-risk women who shared her concerns, recognized that they were cancer stakeholders who shouldered a heavy burden: ongoing doctor appointments; frequent biopsies and screenings; fear; loss of relatives to cancer, and sometimes loss of breasts, ovaries, and fertility; and changes in body image, all due to the risk of cancer. Jordan also felt that uniting the segment of the community that didn’t have cancer could promote more awareness, prevention, and surveillance research, and begin to fill their huge unmet need for support and resources.

A sometimes serious and sometimes silly discussion of how to address this gap, both online and off, followed. The medical community at the time used the term “unaffected carrier” for someone who carries a mutation but isn’t affected by cancer. But in addition to sounding dismissive, that label didn’t include members of our community who were very high risk by virtue of a strong family history of cancer without a mutation, LCIS, or high exposure to radiation. Yet these people were living with the same concerns, fears, decisions, and need for support as others in our community. Eventually “previvor” (for “survivor of a predisposition to cancer”) was chosen as our label of choice, because we all felt that those living with high risk are survivors in their own right. Not everyone embraced the term initially (and many still don’t), but for that moment, previvor resonated with many and filled a need that would allow our community to unite and advocate on issues surrounding cancer risk, detection, and prevention. These issues were separate from resources and research focused on treatment but equally important.

“AmiH,” a member of FORCE’s board of directors and our volunteer webmaster, observed “that the word ‘survivor’ comes from the Latin root meaning ‘to live’.” That connection also resonated with many previvors who felt that the knowledge of their risk and the management options available to them increased their chance to live longer, healthier lives. Not everyone wants or likes a label, and we totally understand that. Some particularly dislike “previvor,” and we get that too. But being able to identify and validate an important group of high-risk stakeholders has led to a revolution resulting in much more awareness, resources, research, and support today than we ever had in the past.

The second pearl comes from a thread started by ‘SusanZ’ [Ziva] shortly after Jordan’s. “My guardian angel, a Yom Kippur lament” is one of the most heartwrenching articulations of previvorship. It captures the devastation and impact of HBOC on entire families. I hope you will read the entire thread, but here are some of the most poignant excerpts:

“Tonight is Yom Kippur. It is certainly a day to reflect on one’s own life. In the past, I have done that in a synagogue. This year I am doing that by my sister’s hospital bedside watching her die from breast cancer. I wanted desperately to ask her to be my guardian angel from heaven…I didn’t have the courage to ask this of her yet…the reality is that in her death she remains true to how she lived, she has continued to be my guardian angel by getting genetic testing. I have found out I am BRCA positive in time to protect myself. In her death she has saved my life, and the lives of many family members.”

 In a later post, Ziva writes,

“Tomorrow afternoon I have an appointment with my second PS [plastic surgeon]… and if there is no significant change in my sister’s status, I plan to walk across the hospital to his office and make that appointment. As Linda leaves this world I am going to fight to stay.”

“I am overwhelmed by your responses…Yesterday I did what I said I would. I kissed her good-bye…and marched across the hospital in defiance of this disease and met my 2nd PS [plastic surgeon].”

 and then this last heart-breaking post,

“My sister, Linda, died this evening at 6:30 as the Sukkot holiday rolled in. I closed my eyes and again asked my sister to forgive all my insults and past hurts that occur between people who love intensely, and be my guardian angel. Your support on this website has been so important to me. You are the ones who can really understand.”

Ziva and her family have remained involved with FORCE as passionate volunteers over the ensuing years, providing guidance, outreach, and support to others. Last night, 12 years after her initial post, Ziva revisited her thread and added these thought-provoking words:

“Well, it is 12 years now since I lost Linda, and all the above is still relevant and true for me. An update: I now have a beautiful and delightful 20-month old granddaughter named Maya Linda! I think she has my sister Linda’s smile and sometimes I feel Linda (and my mother) watching over us with love and grace. Maya Linda brings me the kind of joy I found so difficult to feel since my sister’s death. This is such a blessing. 

I believe there is something quite spiritual in sharing one’s stories with others who listen with respect and compassion and then listening to others willing to share their stories. In this way we can feel connected, significant, and develop courage. Thank you FORCE family for listening and sharing. Our connection gives me hope and courage.”

Ziva, thank you on behalf of all of us. As always your words have captured the essence of our community and of FORCE. This uniting of the community impacted by HBOC—those with cancer and those without—was the goal almost 14 years ago when I founded FORCE: to connect us through our shared experiences, and despite our differences to bring each of us courage, support, and hope for today and future generations.

Happy Previvor Day.

Be empowered and be well.

Sue

Lucky 21 – For Dan

I know that this post is a departure from our “13 things” theme. But it was important for me to share this post with our community. I have said in the past that FORCE was founded on the principle that “no one should face hereditary cancer alone.” I have been blessed with a partner who has always supported my choices. My wish is for all people facing hereditary cancer to find the support they need. Please remember that you can always reach out to the FORCE community, we are here for you.

When I was 19, I liked to gamble. My dad would take me to the casinos in Las Vegas and show me how. Twenty-one was my game and nothing felt better than hitting that blackjack. I always felt so lucky when I won.

I met you 29 years ago, at age 20, just barely out of my teens. I was still in undergraduate school and chasing my lifelong dream…to be a veterinarian. As dating turned into something more serious, I began to suspect how special you were. Still I had no idea how fortunate I was to find you. The back massages you gave me helped alleviate the knots as I spent hours hunched over books studying. You were working three jobs to help pay the bills.

When I was accepted into vet school, you dropped everything and left your friends to follow me as I continued following my dream. Vet school was more challenging than I expected academically and socially. You continued to support me through my all-night study marathons, and even after I graduated, with my 60 to 80 hour-per-week internship.

And on this day 21 years ago we eloped. Too busy to plan a wedding, we went to the County courthouse to trade our vows. We agreed it was the relationship and not the ceremony that makes a marriage. A year later you followed me home to Florida, far away from California, which you loved and far away from your Kentucky roots.  My late evenings changed from all-nighters studying to late night emergency work at our busy practice. Still you supported me. And when we decided to expand our family and become parents, it was your devotion to fatherhood that allowed me to continue to grow my practice with a young child at home.

And as we prepared to expand our family even more, our lives took a very unexpected turn when I was diagnosed “out-of-the-blue” with breast cancer.  You held my hand through my biopsies and surgeries and assured me I wouldn’t go through it alone. Mastectomy was recommended—my cancer was caught early but they couldn’t get it all with lumpectomy—you helped me research and you supported my decisions, even as you assured me you would love me with or without a reconstructed breast. Your patience and love hastened my recovery. When the unthinkable happened and my cancer came back in my lymph nodes a short nine months after treatment, I panicked. But you never wavered in your faith that all would be okay. You reassured me every step of the way that we were in this together.

When it was clear that the best medical decision was to move to another state for care at a major cancer center, you never questioned it. You packed up our house with our toddler in tow as we moved 1,100 miles away from our home, friends, and family for nine months. Together we faced medical debt exacerbated by my inability to work while in treatment. And when I learned I had a BRCA mutation, you took it in stride, even though it meant more decisions, surgeries, medical debt, travel, and risk. Your solid devotion and love lifted me through the roughest spots. My 16 years of survivorship are a testimony to the wisdom of our chosen path.

You loved me bald, nauseous, with a port coming out of my chest, and drains coming out of my hips. You held me as I grieved the loss of my fertility even as you grieved this loss yourself. You carried me through unrelenting uncertainty, post-treatment depression, loss of my libido, and oppressive anxiety.

You endorsed every decision I made. You must have felt alone at times, like the New Years Eve 13 years ago I spent starting a new organization while you were alone on the couch watching TV as the ball dropped over Times Square. Nine years ago, after all the training and sacrifices for my veterinary degree, when I changed my career to direct FORCE full time, you never showed any indication of doubt, recrimination, regret, or resentment. You never hinted that maybe these were rash decisions. You always saw the big picture. You were honored to help the families that had lost so much to cancer.

On this date in 2010 and 2011 you spent our anniversary volunteering and working your tail off at our FORCE conference. You were entirely immersed in it. And as our attendees sang “Happy Anniversary,” I knew that I could never repay your commitment and selflessness that has allowed me to follow my dreams.

Through the challenges, indecision, and uncertainty your love has always been the clear, shining beacon that has guided my way. When I stood up for social injustices, you always stood right beside me, shielding me from the fallout. Since we met, I have seldom felt alone or isolated. As you have always made clear, we are in this journey together.

Dan, I don’t need to gamble any more. I hit the jackpot when I met you. So on our lucky 21^st anniversary I wanted to take a moment to thank you for being my best friend and my biggest supporter and for making my dreams possible. When I look at all the big things we have accomplished together—building a family, raising a child, advocating for a community—and I think of the moments of love, joy, and romance in between, I can see how truly special our relationship and life together are and how fortunate we are to have each other.

A Public Response to Dr. Ivan Oransky

To put this post in context, I was forwarded the link to this webcast from the recent TedMed Conference. I suggest watching this presentation by Dr. Ivan Oransky prior to reading the following blog.

Dear Dr. Oransky,

I recently watched your TedMed presentation and I share your concerns about medical overtreatment of certain conditions and the importance of weighing risk and harm when considering medical interventions. I agree with your point that not all medical tests and interventions have clinical value. I also agree that all stakeholders should share the responsibility for appropriately applying medical technology based on evidence and outcomes. However, I disagree with some of your statements, and I feel compelled to correct what I believe is a misunderstanding on your part about the term “previvor,” and the intent of the advocacy group FORCE in coining and using the term.

In my opinion, your assertion that advocacy groups use “previvor” to make more people feel they are at risk and raise more funds is incorrect. I founded FORCE in 1999, not to make money, but to ensure that people have access to credible information about hereditary cancer, that hereditary cancer research continues to provide better options, and that no one must face it alone. FORCE does not inflate people’s risk. We refer people to genetics experts based on professional consensus guidelines published by the National Comprehensive Cancer Network (NCCN).

Further, previvor is a term developed for a group of people who carry a mutation that confers a high cancer risk in their lifetime. FORCE is a national non-profit organization with a mission to serve individuals and families with a BRCA gene mutation or hereditary cancer. We coined the term to refer to individuals who are genetically predisposed to cancer but have not been diagnosed. The term was a response to a plea by one of our members who lost her mother to cancer at a young age. Learning that she had inherited a BRCA1 mutation and potentially faced the same fate, she sacrificed her own breasts, ovaries, and fertility to reduce her very high risk. Yet she felt dismissed and marginalized by people who did not understand her situation.  She articulated what many in our community felt: they needed and wanted a way to collectively organize, support each other, and advocate for resources to address their unmet needs.

My own breast cancer was diagnosed at age 33 and recurred the year following my initial treatment. I endured chemotherapy, radiation, and an increased likelihood of an early death from cancer. My son was only two years old at the time. I was forced to take a leave of absence from my work during treatment and went into medical debt to pay hospital and treatment costs. Had I known of my inherited predisposition at the time I would have taken steps to avoid cancer or detect it earlier. My experience is just one illustration of the financial, emotional, and physical costs of not knowing about a genetic predisposition to disease. These burdens impact entire families and can affect long-term quality of life. Many women pay with their lives.

Too many hereditary cancer families have watched their loved ones battle and too often lose their lives to the disease. They want to know what they can do to avoid the same fate for themselves and their own children. They face lifetime risks for cancer as high as 90%. Their risk-management options—preemptive surgery, risk-reducing medications, and heightened surveillance—are not without side effects or other risks. complex information about risk and risk-management and using it to make informed decisions. Although risk-management options are not ideal, most genetics professionals concur that hereditary cancer risk assessment and associated interventions have clinical utility. Research from peer-reviewed journals demonstrates that risk-management options can lower cancer-associated and overall mortality in the highest-risk cohort.

As an organization whose mission includes education, FORCE understands the challenges of presenting complex information in a balanced, understandable, compelling, and humane fashion. We take this responsibility seriously and we frequently consult with our expert advisory board for guidance. It is my opinion that your representation of previvors and our advocacy for the community was neither balanced nor accurate. Your baseball analogy illustrated your point about overtreatment of pre-conditions, but you neglected to mention inherited cancer risk, the situation for which the term was established. You cited “pre-acne” as an example of the absurdity of treating a precondition, even though the consequences of a diagnosis of acne and a diagnosis of cancer are not remotely the same. Women with BRCA mutations have elevated lifetime risk of developing breast and ovarian cancer that is many times higher than the general population. They are more likely to develop aggressive cancers and at a younger age when they are less likely to be screened. Thousands of women die from these cancers annually. Given these facts, the example of pre-acne is not a realistic comparison to inherited cancer risk and in my opinion insults a group of people with a very serious set of medical concerns.

Members of our community have an inherited mutation that leads to changes on a cellular level, which put them at very high risk for disease. Although our genetic differences may not be obvious on the surface they cause challenges that separate us from other people who do not possess these mutations. Ignorance and ridicule directed at people with medical challenges of any type are inappropriate.

I hope that you will provide a clarification of your statements about the meaning of the word previvor to include the fact that it was coined to describe and empower a specific group of people at very high risk for a deadly disease like cancer. Further, I encourage you to use your role as an experienced medical journalist and professor to delve more deeply into the difficult issues of people with BRCA mutations. In doing so you have the potential to make a positive impact on a lot of people.

I am not a baseball player, Mr. Oransky, but I do play tennis. In tennis when you do not swing at the ball, you lose the point. People with a BRCA or other inherited cancer-predisposing mutation face extraordinary risk for a disease that is too often fatal. Many of us have lost so much to cancer. Not swinging at a disease that has a high likelihood of coming our way is not a wise option.

The Lights of May

We were late.  The last hint of twilight faded and although we were close to home, I was nervous.  It was already 9:30, way past Beau’s bedtime, and instead of being snug in bed we were still two blocks from home. By that time I was almost running, hurrying my son when he stopped.

“Mommy, what was that?”  he pointed to a neighbors yard.
“C’mon Beau, we’re late,” I pleaded but he wouldn’t budge.
“No, Mommy, what is that?” he insisted, “It’s green!”

At 5 years old, Beau was in the habit of pointing out every pebble, plant, and piece of litter and dirt along the way. A walk around the block with him could turn into an hourlong adventure.  But tonight we had already walked a couple of miles to the store and back; I was tired and still had work to do. Our sleepy Florida neighborhood was generally safe, but it was still a source of anxiety for me after dark.

I was anxious a lot. And certainly I wasn’t as patient as I used to be. Putting off parenting as I pursued my veterinary career, I was 31 when Beau was born. But it seemed I had waited too long to have the family I had dreamed of when I was diagnosed two years later with breast cancer. Before my diagnosis, I was at the peak of my veterinary career.  My health had never been better, and I no reason to think my life would be forever changed by a cancer diagnosis. I had no advance warning that I had inherited a BRCA mutation and was at such high risk. My diagnosis was followed by two years of dealing with my cancer, initially with surgeries, then—when my cancer recurred—more treatment that included chemotherapy, and radiation. On May 15, 1998, after learning of my BRCA 2 mutation, I underwent a risk-reducing oophorectomy and hysterectomy at 35, abruptly ending my plan to have more children. A prophylactic mastectomy and reconstruction on my other breast followed. During treatment for the recurrence, my family relocated to Houston. All I could think about there was the time when I would finally be done and could reclaim my previous life and career.

Yet when I finished treatment and returned home, fear of another recurrence was my constant companion. It consumed almost every waking moment, sometimes leaving me frenzied to achieve all I hoped to do in a compressed moment of time. Trying to balance my veterinary career with my new role running FORCE, (back then a very new and small nonprofit organization), and still be there for my son and husband while battling constant anxiety was taking its toll. I was struggling to keep my head above water professionally and personally, and failing. Two years since returning home to Florida, after all the treatments and prophylactic steps I had taken to survive, I wasn’t really living. And my husband and son, the two people who needed me the most, shouldered much of the collateral damage from my unhappiness.

Tonight walking with Beau seemed no different. As I tried to hurry my son, I was oblivious to his world. I grabbed his hand and pulled him along.

“Beau, it’s probably just a piece of garbage!”

“Mommy it’s a green light!”  he insisted.  “YOU HAVE TO STOP!”  Beau didn’t often defy me, and his insistence took my by surprise. There were so many things pressing down on me; yet, for one moment I considered what my son was saying. For the first time in a while I thought about things from his perspective. I took a breath and I stopped with him.

“I don’t see anything.”
“There it is again!”

I studied the darkness of our neighbor’s yard for a glimpse of Beau’s mysterious light.  There. And there. What had been invisible a moment ago was suddenly revealed. A firefly, several, actually. Bright green flashes, blinking intermittently in the dark.

I was amazed. “I don’t believe it Beau, those are fireflies!”  I told him about the fireflies in New York when I was a child. During my 11 years living in Florida never once had I seen a firefly here. The hurry for bedtime and my weariness now forgotten, we watched Nature’s lightshow together for the next 30 minutes.

The following evening we could hardly wait for dark. It didn’t take long for the show to begin. We chased after the flying lights, then caught one and studied it.  It flashed and tickled in our hands.This firefly was different than others I had seen; the light came from its head. A beetle with glowing eyes!  Later, the Internet informed us our flying friend was Pyrophorus, the only bioluminescent click beetle.

We chased the fireflies for the next few weeks, even relocating some to our own yard. I spent many happy moments reconnecting and sharing joyful times with Beau. How long it had been since I had felt that. That spring, along with the flowers and the fireflies, hope and happiness were emerging; emotions that I had suppressed since my recurrence. From then on, every May, watching for the fireflies became a sacred ritual shared between Beau and I.

Pyrophorus – Photo by Adrian Tween

Sometimes it’s the small moments that emerge from the large and scary events in life to define us. That night, seeing the world from my small son’s perspective opened me up to the joy and wonder I had been missing. Sometimes a tiny dose of joy reminds us how attainable it can be. Since my oophorectomy, May had been a time of grief for me. That spring night restored many gifts that cancer had taken and helped me to recapture and hold on to the connections that had made all my treatments worthwhile.

Several years later, I gave up my veterinary career to dedicate more attention to FORCE and my family. I still think of that night as a pivotal moment when I was reminded what was really important. I still get stressed and anxious and I still sometimes feel there is not enough time to accomplish all that I hope to in life. But I have gained more perspective-more ability to see the world through the eyes of a child.

Although I have heard the glowing beetles can be found here in Tampa, where we moved eight years ago, I have yet to see them. But it is May, and I haven’t looked for over a year. Tonight I will make time to see if I can find one.

13 Reasons to Attend the Joining FORCEs Against Hereditary Cancer Conference

Registration is now open for our 7^th annual Joining FORCEs Against Hereditary Cancer conference. The excitement is building as planning progresses for this amazing and unique event. As Course Director, I think the conference is incredible; as a participant, this is the conference that I personally enjoy the most and gain the most from attending. In keeping with our “13 Things” theme for 2012, below are 13 good reasons why you should not miss this year’s event.

 1.  We have something for everyone. Clear explanations about the science of hereditary cancer make research and medical options understandable and accessible to everyone. From explanations about basic science, statistics, and cancer to presentations on new research discoveries, the conference offers a range of information that is relevant to people with and without advanced science training.

2.  The largest annual gathering by and for the hereditary cancer community. Be a part of this landmark event.

3.  Our conference is organized to help you find the information you need the most. Conference content is aligned into tracks with sessions that are focused on all aspects of hereditary cancer.  You will find informative and inspiring sessions whether you are a survivor or previvor, you are newly diagnosed or years out from treatment or preventive surgeries. Detailed and specific information will address:

• newly diagnosed breast and ovarian cancer survivors
• long-term cancer survivors
• people still in treatment for cancer
• people who just learned they carry a mutation
• previvors
• spouses, partners, and caregivers
• people considering whether or not to have genetic testing
• men with mutations
• patient advocates
• genetic counselors
• people interested in surveillance for breast, ovarian, and pancreatic cancer
• women who are considering prophylactic mastectomy (with or without reconstruction)
• women who are considering prophylactic oophorectomy
• women who have had prophylactic surgery
• women who have undergone early menopause

4.  Medical and psychosocial resources and support. The information you gain will support decision-making and provide information about your legal rights that will help you navigate the medical and insurance systems.

5.  We bring researchers to you. You will have an opportunity to hear the latest research findings regarding detection, prevention and treatment, presented first-hand by the researchers themselves.

6.  Unprecedented networking opportunities. The conference offers plenty of time and opportunity to network with others based on your personal circumstances and geographic location.

7.  Benefit from the experience of others. Meet, chat, and bond with hundreds of others who share your concerns. Hear the poignant personal stories of people just like you who have faced hereditary cancer. Talk face-to-face with your virtual friends who have supported you on Facebook or the FORCE message boards. Our after-hours events are social gatherings that provide opportunities to share in relaxed and intimate settings.

8.  Information and support to help you make decisions about surgery and reconstruction. If you are considering your surgical options, talk to plastic surgeons and women with every type of reconstruction (and no reconstruction). Attend our “Show and Tell” session.

9.  Support for communicating genetic information to family members. Learn how to discuss sensitive issues with relatives, spouses, and adult and minor children.

10.  Enroll in research. On-site enrollment for studies that will offer better answers for the future allows participants to help make a difference.

11.  Meet one-on-one with the world’s hereditary cancer experts. Where else would you have an opportunity to ask personal questions about hereditary cancer, risk, treatment, surgery, and menopause of world experts?

12.  Bond with family members. Sharing the conference with family members is a unique bonding experience that will help them better understand the issues that you face, their own risk for cancer, and management options.

13.  Enjoy the venue experience. Centrally located in Orlando, our conference hotel offers many indoor and outdoor activities and sports – including lighted tennis courts and three full Jack Nicklaus golf courses – with proximity to all the major theme parks. The conference offers great food, relaxation, opportunities to decompress, express yourself, and play.

Visit our conference website to watch our conference video, download and print our brochure, view our agenda and speaker list, or read our Frequently Asked Questions for more information.

Guest Blogger: Knowledge IS Power

Guest blogger and Phoenix Outreach Coordinator, Lisa Edwards shares her story and thoughts on why she feels supporting FORCE is so important.

I grew up watching my grandmother, two aunts and mother battle breast cancer, each of them having it more than once.  As a young adult, I knew that I needed to be the generation that started to change things.  I wanted
a different life for my future and that of my children.  I give thanks to FORCE for helping me make that change.

When I had my PBM in October of 2008, I was the first of my family, first of my friends and first of both my general and plastic surgeons’ patients to prophylactically remove my breasts.  I had to explain what I was doing and why many times.  The universal knowledge wasn’t quite there yet but as I would learn later, I was a part of a revolution that changed the way we confront hereditary cancer risk.

Now in 2012, I am astounded by the awareness and campaigning efforts for HBOC.  FORCE and those that support it have come so far in making the BRCA mutation a household name.  Because we have made information so readily available to those around the world, I believe we are saving lives every day: both from the possibility of disease but also from the fear that plagues all of us at high risk.  With as much as we have accomplished thus far, we still have work to do.

We need more research that is specific to our hereditary risks.  FORCE knows how vitally important this is and is working hard at promoting the Hereditary Cancer Research Fund.  The funds raised are being used to gain more knowledge with new ways to arm ourselves and the future generations to come.  The knowledge I was provided by FORCE in 2008, saved my life.  Let’s continue to give this powerful gift to many more!

Visit the FORCE website to learn more about and support the Hereditary Cancer Research Fund.

Why Shouldn’t We Have It All?

As a 15-year breast cancer survivor, I remind myself daily of my good fortune and blessings.

Of course, I feel fortunate to be a long-term survivor, especially when I consider that my cancer initially recurred nine months after treatment. I made it through chemotherapy and radiation without any serious problems, despite needing a transfusion and drugs to stimulate my bone marrow when my blood counts were low. I emerged on the other side of treatment and have remained cancer free. I am also thankful that I was given the opportunity to lower my risk for further cancer through genetic counseling, testing, and interventions.

Now, at age 48, I am in the best physical and mental shape of my life. I feel great. I am healthy, fit, and I have a libido. But I didn’t always feel that way. And I recognize that not everyone who has navigated the hereditary cancer journey is as fortunate as I am. Although my cancer experience demanded sacrifice, my experience had such a better ending than my grandmother’s. Diagnosed with ovarian cancer in the 1940s, her cancer was a death sentence. Her doctors operated, found that her cancer had spread, and then sent her home without any further treatment.

Since my diagnosis and treatment, I have watched as improvements in cancer research and clinical care have evolved to improve the overall cancer experience:

• new tests to determine the best treatments and targeted therapies that may work preferentially for hereditary cancer
• less drastic life-altering treatments and better medications to fight nausea and boost the immune system during chemotherapy
• less invasive surgery, including skin-sparing and nipple-sparing mastectomy, minimally invasive robotic surgery, and sentinel node biopsies, to name a few
• more choices for breast reconstruction
• new and better options for preserving fertility in previvors and survivors

These changes are steps in the right direction, but our options are still far from ideal and we have a long way to go. Each and every day, our community faces tough decisions and harsh treatments, issues that deserve solutions. Researchers are now starting to look at secondary issues down the road for our community, such as:

• the long-term impacts of menopause, chemotherapy, and later-onset heart disease when someone has a BRCA mutation
• the risks of osteoporosis and arthritis from medication or early menopause
• the impact of treatment or menopause on memory and dementia

As more healthy women now get tested and make these decisions at a younger age, the medical community needs to focus on long-term previvor- and survivorship issues. I have fielded thousands of helpline calls, posts on FORCE, and personal emails from women who face so many challenges that need to be addressed; women who are terrified of cancer and terrified of surgery, living day-to-day in fear. Those who have lost their confidence, libido, fertility, or their sexuality as a result of surgeries.  They are facing real challenges and yet they feel they may not be deserving of support.

As a breast cancer patient I felt that I was supposed to be grateful to be alive and not worry about the nuances of quality-of-life issues. I was expected to accept the sacrifices and losses without question.

• I was told that I would need to give up my dream of having another pregnancy.
• I was told I shouldn’t get the reconstruction that I wanted because my long-term prognosis was questionable.
• I was told that the fatigue, joint pain, and bone density loss I experienced after treatment was inevitable.
• I was told that my lost libido was not associated with lack of hormones.
• I was told that my weight gain was due to depression.
• I was asked to compromise my quality of life in exchange for survival.

My first diagnosis was early-stage breast cancer and surgery was initially my only treatment. At that time my prognosis was excellent. But I was 33 with cancer and needed support. I went to a support group and was told by another survivor who was going through chemotherapy that I didn’t know what pain and suffering was. She felt that I had not suffered enough to belong to the group and I therefore didn’t need support. I left and never returned. Imagine being told you don’t deserve the support you need! Later, when my cancer returned in my lymph nodes, I wondered “have I suffered enough now?” My experience sensitized me to both the survivor and previvor communities and the support needed by anyone who faces hereditary cancer. FORCE was founded on this principle, that “nobody should face hereditary cancer alone.”

I struggled with serious consequences for the three years immediately following my treatment. I dealt with severe fatigue, joint pain, and a complete lack of libido. My doctors wouldn’t listen and minimized my concerns. They seemed to imply that I should feel grateful, despite being debilitated at age 35. Rather than working with me to develop solutions, they dismissed me. I had to shout, self-advocate, research, fire doctors and search for new doctors until I found providers who would work with me. Eventually I found a solution that worked for me.

Like me, many women are being told that they don’t have a right to complain because they aren’t currently battling cancer or because they had the opportunity to take preemptive steps. Yet these women have had losses that affect their lives and for which they grieve.

I want to say emphatically that it is wonderful to be grateful to be alive but it shouldn’t be a requirement placed on us by others.  It is okay to want it all.

We have a right to expect the best quality-of-life and better options for ourselves and for our children. Facing intensive screenings, call-backs for more screening, biopsies, surgery, early menopause (and the associated risks), agonizing decisions, sacrificing our fertility, and the concern that our children may have inherited our genetic predisposition—all of these experiences are valid challenges. And nobody has suffered too little to deserve support!

I am happy to report that I now have my health (and libido) back and I’m living a great life. Not everyone is so fortunate. If we fade into the shadows and don’t speak out, we won’t get the research or resources we need. It is okay to cry, vent, scream, grieve, and share our situation, our options and our outcomes, and then collectively demand better. Whether you are a previvor or a survivor the issues faced by the hereditary cancer community come with long-term consequences and our concerns are valid. We must stop apologizing for wanting it all and unite to advocate for more research and better options for ourselves and our community.