There Having little treatment available other than annual screenings, prophylactic chemotherapy for those with later staged cancers and resection of tumors and organs which are vulnerable to Lynch tumors, this news brings new hope to the families with Lynch syndrome!  http://link.springer.com/article/10.1007%2Fs10689-013-9662-7 

When Dave Wortman, Director and Treasurer of Lynch Syndrome International, came to the Annual Meeting of the Board of Directors, he brought with him the heart and soul of Edward Jones, Region 209...presenting LSI with over $5500 in contributions from Edward Jones, its employees and friends.

We are so very grateful for the wonderful contribution, which will allow us to do so very much more in supporting those at high risk for hereditary cancers, providing education of Lynch syndrome to medical professionals, creating public awareness within our communities in order to protect families and save lives and in promoting research endeavors.

We are so thankful for all the beautiful hearts at Edward Jones and their friends.

A recent article in OncLive published in May of 2013 and entitled Genetic Experts Views On Testing/ Prophylactic Surgery only hit the tip of the iceberg in respect to hereditary cancers and patient views.

Cited within the article was, “The researchers also found statistically significant differences in attitudes toward prophylactic surgery for Lynch syndrome between the two surveys. When asked if they would choose prophylactic colectomy if positive for a deleterious HNPCCmutation at age 35, only 16 respondents to the 2012 survey (7.4%) said they would, compared with 27 people (17.4%) who answered affirmatively in 1998. Respondents in 2012 indicated confidence in colonoscopy, lowered quality of life and body image, and a willingness to postpone surgery until detection of a lesion or polyp as reasons for this choice.

However, when the same question was asked with regard to removal of the uterus or ovaries due to an elevated Lynch syndrome risk, participants were more inclined to respond affirmatively. Nearly 80% of 2012 respondents said they would have their uterus removed if found to carry the HNPCCmutation at age 35, compared with 54.1% in 1998. Similarly, nearly 78% of respondents in 2012 indicated that they would have their ovaries removed versus 52.4% in 1998.”

Those of us with Lynch syndrome do indicate a confidence in colonoscopy and have personally experienced the removal of polyps and lesions as well as of recently, due to advocacy efforts, have the opportunity to see the positive effects within others and the resulting cancer prevention.  As well, in the past fifteen years of advanced technological advances in gastroenterological screening, more polyps and lesions are discovered.  The need for resection, though a choice, is not all that necessary anymore.

We have had fifteen years to see others live as a result of the removal of polyps and lesions before they can develop into cancers. This exposure has been even more enhanced with social networking and advocacy efforts.  Once a community of individuals which remained in the closet, our families are coming out, realizing our condition is somewhat common and not rare, but more underdiagnosed.  Hopes for longevity are enhanced with accelerated technological advances in science for care. With effective intervention, most don’t see a need to engage in resection until a cancer is realized, as most are found in the earliest of stages, with regular cancer screenings. With great medical teams and evolving technology, the uncertainty is alleviated and trust is established.

However, the situation is far different with the women’s cancers of Lynch syndrome. Despite all the studies and research, there is yet to be released to the medical profession a good test to detect endometrial and ovarian cancers. Johns Hopkins may have recently discovered a good test, but it is a while before it will reach the marketplace and to those of us who are desperate for it.

As a result, there are no standards of care established to screen women for endometrial, ovarian or breast cancers of the Lynch syndrome.  The thought is standards cannot be developed because there is no scientific evidence current screening tests are effective. Therefore, women have little other option for protection of themselves and in opting for life, most do undergo resection of the uterus, the ovaries and if a Lynch subset of breast cancer is in existence or breast cancer is prevalent in the family, sometimes, the breast.

Ob-Gyns are not up to par on the diagnosis and the management and care of those with the Lynch syndrome.  They are uncomfortable with anything involving an organ outside their realm of expertise.  Though comfortable with testing women for BRCA1 and BRCA2 and knowledgable about that condition, many are reluctant to diagnose and care for women with Lynch syndrome.

Also explored in this article was the issue of anonymity in genetic testing with respect to health insurance, and the results indicate that respondents are for the most part confident that billing their insurance company for testing would not be detrimental, with 94.9% of the 2012 respondents replying that they would, compared with just 23.9% in 1998.

The concensus regarding anonymity in genetic testing with respect to health insurance would undoubtedly be true as most the individuals tolled were diagnosed with Lynch syndrome or BRCA and their testing was most often paid for by insurance.  They had a personal experience with it…however, there are still some concerns of those regarding anonymity in genetic testing and who do test anonymously.  However, today, it is still a major issue, with our children and those without a steady insurance or income.  There is little fear of getting insurance as a result of the GINA legislation and federal and state protections.  However, fear is still very real about the cost of insurance.

The fear is valid and needs to be resolved.  We saw, with the Affordable Care Act, those at highest risk for colorectal cancer, be charged copays, sometimes reaching a thousand dollars, if a polyp was removed.  Despite the fact those with Lynch syndrome face an average of 37 colonoscopies and 37 endoscopies during their lifetimes and the average person over fifty experiences 3 colonoscopies, the Federal government acted to protect those over fifty, and not those with the Lynch syndrome, despite the colonoscopy being a preventative test. 

Lynch syndrome has no strong supportive lobby as does those with hereditary breast cancer.  It has no large corporations supporting it as does those with hereditary breast cancer.  Though the proportion of the population affected by Lynch syndrome is the same as that with breast cancer, those with breast cancer are diagnosed three to five times more often than those with the Lynch syndrome, resulting in the continuing circle of cancers evolving within families.

“I find this particularly interesting because I’m not sure we would even think to ask these questions in 2012, but these were top of mind in 1998,” Matloff observed." was stated within the article.

The big question is why wouldn’t researchers still ask those questions, since many of the concerns still exist and after fifteen (15) years, there is still  a severe under diagnosis of Lynch syndrome and little advancement in the issues surrounding the women’s cancers.  This is especially in light of the fact there are no standards of care for women or large advanced clinical trials for Lynch syndrome, to date, to discuss the issues of women and Lynch syndrome.

The one thing which was made truly obvious in this article is most individuals with Lynch syndrome are educated, informed and savvy.  They know their risks, discuss them extensively with family members and their medical team, keep up to date with the most recent studies, work hard to protect themselves by making necessary life changes in diet, exercise and attitude, participate in regular cancer screening and become involved in advocacy efforts. As a result, today, we live.

Due to the evolution of the internet and the advent of advocacy, much has changed, however there is still very immense need in education, diagnosis of those affected, the development of guidelines for ongoing screening and the concerns of discrimination, for those with the neglected condition of Lynch syndrome.

http://www.onclive.com/publications/oncology-nurse/2013/may-2013/genetic-experts-views-shift-on-testing-prophylactic-surgery/2 

Genetic researchers met to discuss how information discovered during research studies should be managed...should it be shared with those whose genes are being analyzed for anomalies?  The recommendations were very good, including involvement of stakeholders.   http://link.springer.com/article/10.1007%2Fs12687-013-0148-y# 

Perched on a stool and nervously rubbing sweaty hands on my Levis as I quietly listened to the surgeon and my daughter discuss the upcoming double mastectomy procedure, my mind drifted to a week prior when Angelina Jolie stepped into the limelight, bringing the issue of hereditary cancer into the public eye and announcing she had undergone a double mastectomy for hereditary cancer.

Watching the interaction between my own child and her physician, my mind whirled with thoughts of Angelina’s family and the sacrifices Moms and Dads will make in order to simply be there for those so very important moments with our children, for yet another year, one more decade and hopefully forever, however long that may be.  I thought about her decision and her choice and her reasons, not so very different from our own.  The simple desire to exist in this wonderful world and to be with our children tomorrow, a choice not available to the generations who came before us.

As thoughts drifted of Angelina and her mother, I could feel the ache in her heart—the longing to cuddle next to her and during time of uncertainty hear the comforting consolation only a mother could whisper, that everything would be all right—and I could imagine the intense heartbreak in Angelina finding things weren't all right, that she would never again feel her mother’s arms around her or listen to her chiding reminders or be there for the important moments in her or her children's  life.  She did not want her children to experience what many of us have, losing our parents to a difficult and devastating death.

I understand her decision. Like me and many of us, Angelina simply wanted more---for her children, for her life partner, for herself.  All the money in the world, all the fame in the world, all the adoration in the world could not  make up for what is truly important in this life—simply to love and be loved—to be there for our families.

We, with hereditary syndromes, feel the same feeling of uncertainty in living to the rhythm of a ticking clock as Angelina. We admire the love and responsibility she and most Moms demonstrate toward their children in standing up and doing what she needed to do because the possibility of leaving this world early simply wasn't acceptable.

It seems like yesterday when I entered my rite of passage into the world of hereditary cancer/ After being diagnosed, the startling realization hit I was  truly my father’s daughter.  The first thoughts were of desperation, “Oh my God, my kids, my husband…my drawers!” 

“….my drawers????”  Yes.  I didn’t want anyone going through my dresser, as the remants of the past within those drawers were archived as memories of a life well lived. To others they may seem filled with disorganized junk, but I knew where and what everything was—each item represented cherished moments--half torn tickets from Disneyland with the kids, the cheap, plastic, orange neon colored ring, a birthday gift my daughter won from a gumball machine, a few old passports, my thirty-five year old Notre Dame t-shirt, badges from a career long finished, the hat from a serial killer…wait a minute, hat from a serial killer?  Okay, okay, I'm digressing...and its a long story, but you get the idea.  There was a series of wonderful and interesting long stories of a life previously lived before entering the world of Lynch syndrome…and the fading memories from it which were tossed haphazardly in drawers. 

The drawers represented where I had been in my life.  The diagnosis represented a death sentence, setting the clock in motion and serving as a warning, reminding us where we all will go someday, some of us far too soon, than others…and I found myself there, sitting in between the past and the possible future, vulnerable with little choices or control.  Everything depended upon chance, the good Lord and his helpers…my doctors.

That was five years ago, with a series of surgeries packed in between. First was the colon...subtotal removal, a steady course of chemo cocktails and almost a year of feeling totally wasted. Then the prophylactic hysterectomy--didn't bother me, my body was programmed to kill me.  Better it go, than me.  Next was the gall bladder with the large, unknown polyp. I had never really bonded with it, so it wasn't much of a loss. Those surgeries diminished cancer risk dramatically...the chances increased that I may just live to be an eccentric, wild, grand old dame.

Except for the history of breast cancer on Mom's side. It set my hair on edge. There was no Lynch syndrome surveillance for it.  What had killed my grandmothers, and stalked my mother, was lurking somewhere in the shadows perhaps waiting for me. It had gotten every woman in our family, but me.  The last family member affected with it had the tumor tested and it was determined to be a result of Lynch syndrome.

Risks were discussed with my oncologist, who asked if I had ever considered a double mastectomy, I heaved a sigh of relief.  He got it.  "Your family history is horrendous." he advised.  He understood the fear and uncertainty, though I really tried hard to keep it masked.  There really wasn’t ever a decision to be made to have a double mastectomy…there was only a decision of whether to opt for life or play Russian roulette with cancer.  It was a no brainer.  The only real decision was whether or not to undergo breast reconstruction and which choice was desired should it be chosen.

We, with Lynch syndrome, fight hard for life.  Everything is a battle, it seems.  From getting diagnosed, to getting our kids diagnosed, to fighting with insurance companies about coverage, to having to pay large copays under the new ACA, to battling with appointment clerks to get life saving screenings, to going through multiple surgeries, to participating in annual screenings, to worrying about loved ones, to fighting uncertainty and fear and compartmentalizingall of that to someplace else--anywhere else but the immediate.

We have to educate our physicians and teach them about Lynch syndrome and how to care for us.  We have to encourage them to listen and allow us to participate in the decisions for care for us and our children. Adjustments have to be made within our lives, to change our diets, change our lifestyles, be prepared for the "down days" of our family members, put up with "black humor" from our kids and pretend to be offended at off color jokes at the holiday table about donated body parts. We too often cry silently in the shower when we feel overwhelmed.  Some of us have to give up beloved occupations and toss out  old dreams and create new ones.  We have to educate our employers and harbor the guilt of missing work to meet all the cancer screenings, live with the fear of losing jobs because too much time is taken off work.  We have to build and develop a support group, within our families and friends, to help care for one another as cancers rotate through family members. Some of us have to adjust and accept new limitations and through it all, be able to welcome a new dawn and be grateful for where we are and what we have.  We have to work hard at balance, and if we get it right, we live.

The tradeoff for all that is a reduction in risk of cancer, a chance at life and far more special moments with our loved ones. It is worth every moment of it!

Hopefully, cancer is something of the past for us and our families.  Angelina and I will be the first women in our families not to get breast cancers.  And as I watch my daughter prepare for her rite of passage into this world known as Lynch syndrome, it is with the knowledge, after undergoing her own double masectomy, she may be the very first person, in our family, never to EVER get a cancer.  Remarkably, her children may be the first to be able to bear children who will not have a defective gene.  There is considerable hope, thankfully to genetics, genetics testing and treatment available today. Now, that is something great…

We understand why Angelina has stood up and publicly discussed what she has done.  It took courage and strength.  To her family she is a hero and that is all that matters.  Her public quietly accepted the news, many, naturally, not knowing how to respond.  Angelina didn’t need anyone’s approval, nor do I believe she wanted it.  No more than I needed anyone’s approval or my sister or my daughter.  She simply wanted life -- to be there for her children, someday. She wished to share that and a special message with others--a message of gratitude and one of hope.  

The author is diagnosed with Lynch syndrome and is a late stage colorectal cancer survivor.  Every person on her father's side of the family has been diagnosed with Lynch syndrome cancers, through her generation. The next generation may never experience a cancer with the hope of modern technology, aggressive cancer screenings and a great team of physicians caring for them. 

Lynch Syndrome International will be at the ASCO Annual Meeting 13, in Chicago, Illinois on May lst through 4th.

We'll be located in Booth 6039, across the Novartis!  Patient materials will be available and lots of up to date information on Lynch syndrome.  So, drop by and sit a spell with us!  We look forward to meeting you!

Dr. Hans Vasen and the Mallorca Group of European experts have issued revised guidelines, including MMR testing of colorectal and endometrial cancers should be utilized for those up to age 70.  A must read....  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3647358/

Lynch Syndrome International is excited to introduce some committed, amazing and passionate people to our Board of Directors for the 2013-2014 fiscal year.  This last weekend was filled with high energy, positive solutions and a good direction in continuing forward toward of future of protecting our families and saving lives.  Meet our new Board of Directors:

Linda Bruzzone – President/Executive Director  Operations/Fundraising

Barbara Fabiani – Vice President Secretary   Operations/Fundraising

Dave Wortman – Treasurer     Financial Oversight

Directors:

Susan Olson – Brentwood, California/Survivor  Young Previvors and Survivors Liaison

Beth Fairbank – Brisbane, Australia /Previvor    Australia Liaison

Todd Neil – Winnepeg, Canada /Previvor   Canada Liaison

Wolfram Nolte- Germany /Survivor    European and Germany Liaison

Judith Ruggiero –  Vacaville, California /Previvor   Public Policy Liaison

John Nelson – Las Vegas, Nevada/Survivor  American Tribal Liaison

Michelle Miller, LCSW – Denver, Colorado /Survivor

Bill Harb, MD – Nashville, Tennessee / Medical Provider  (Liaison With Medical and Research Organizations)

Cristi Radford – Sarasota, Florida/Genetic Counselor (Chairs Medical Professional and Patient Education

David Wakefield – Internet Web Developer and Social Media Consultant

Meg Davis – Endurance Coordinator

This week, 10,000 West Contra Costa County families will be receiving postcards in their mail, alerting them to Lynch syndrome and hereditary cancers. 

Sponsored through the compassion and generosity of the Soroptomists International - Richmond, California chapter, this campaign is a follow-up to an LED billboard campaign in which over 7,000,000 persons were reached during a two week period during Lynch Syndrome Hereditary Cancer Public Awareness Day on March 22, 2013.

It is projected one in every 370 persons in the U.S. are affected by Lynch syndrome.  Hopefully hundreds of persons, affected by Lynch syndrome will be identified by these public awareness campaigns.

Great things are happening with Lynch syndrome, at least in the Sacramento River Valley of California.  At the Undy500 Race, sponsored by the Colon Cancer Alliance, in March, LSI had a team which not only ran, but also worked with outreach efforts to others who were survivors of colorectal cancers and who, potentially, may have Lynch syndrome.

In 2009, there was very few upon the internet who could be found with Lynch syndrome. There were no advocacy organizations, no dedicated websites, no detailed web pages.  There were 89,800 research articles which were listed for Lynch syndrome, however most were behind locked internet walls and requiring $30 per article to access and read.  No wonder few physicians had ever heard of Lynch syndrome.  No wonder families were closeted.

The first few years were difficult, at best. As Lynch syndrome came out of the closet, and questions were asked, controversy occurred.  Controversy is good.  It opens the doors to communication and can often knock down walls...finally, it allowed for the voice of the patient and the voice of advocacy, which is often not understood by the medical community.

The first few years, while exhibiting at medical conferences were dismal and often demoralizing.  Very few physicians had ever heard of Lynch syndrome.  As time has elapsed, over the past four years, at one conference of Internists, almost every single one had a good understanding of it and how to test for it.  The Osteopathic physicians had embraced it and over fifty percent contacted understood Lynch syndrome and how to diagnose it.  The General Practitioners, urologists and gynecologists didn't have a clue and many nurses had never heard of it and many still don't...

But something exciting occurred at the Race...as we spoke with survivors about Lynch syndrome, we found most had heard of it, many had been tested and there were many who were pending testing.  The medical professionals who were participating in the race, had all heard of it.  In 2009, this would never have occurred. We are very grateful to the medical professionals at the University of California, Davis, Kaiser Permanente, Sacramento, and Sutter Healthcare, who have worked hard at identifying those with the Lynch syndrome and providing diagnosis as well as to the commercial testing reps who have been working hard to educate the general physicians in the area.  Good job, Docs, NPs, Nurses and GCs, in your determined efforts to protect families and save lives.

Great things are happening for our families in Northern California! 

March was a terrific month for Lynch syndrome public awareness.

At the request of individual state Lynch Syndrome International Task Force Leaders and hundreds of volunteers, thirty six Governors, nationwide, signed proclamations declaring March 22, 2013  Lynch Syndrome Hereditary Cancer Public Awareness Day, in their states.  Additionally, two Governors submitted letters of support. 

In this effort, LSI worked with many different organizations and institutions throughout the U.S.  We are so very grateful to the genetic counselors, the instititutions, the companies and our dozens and dozens of  volunteers whose efforts  will result in saving thousands of lives by participating in this one day.

Events and activities included:

Nick Seferin of CBS News - London, wrote a terrific news article about Lynch syndrome and the agonizing choice of prophylactic colectomy which reached millions.  The History of Bowel Cancer Clinic in Middlesex, England was extremely active in promoting public awareness there.

A paper was published by Jurgen Seppen of  Vereniging HNPCC-Lynch in the Netherlands and Linda Bruzzone of Lynch Syndrome International addressing the perspective of the patients.  Awareness efforts to educate physicians was performed by Lynch Syndrome Australia and with the announcement of the newly formed Lynch Syndrome organization formed in Spain, AFAL Spain.

Various hospitals and organizations held Lynch Syndrome Days in their communities, including a collaborative effort with the Michigan State Public Health Department Kalamazoo, Michigan and local institutions, Lynch Syndrome educational days for patients and medical providers at  the University of Washington, Seattle, University of Texas, SW, Sloan Kettering, Fox Chase and various public awareness campaigns occurred at local hospitals and medical facilities including the Akron Childrens Hospital, Theda Clark Health Services in Appleton, Wisconsin, numerous clinics in Florida, Texas, Wisconsin, Michigan, Arizona and many more across the United States.  To them, we are so very grateful and have already received telephone calls and emails from those pending diagnosis, following their efforts.

Approximately 15,000 radio spots were played nationwide and, new this year, were billboards in Georgia, California and Kansas and teams of runners participated with the Colon Cancer Alliance with their Undy500 races. 

LSI exhibited at NCCN in Hollywood, Florida.  It was a wonderful experience to see physicians actively involved in Lynch syndrome and approaching the table, ready to engage in learning more about it.  The nurses were terrific and passionate about performing risk assessment, following a training session from Heather Hampel.  They will make an incredible difference in the level of diagnosis.

Approximately 135 communities were actively involved this year through grassroots efforts of our volunteers and approximately 27,000 brochures, wristbands, tattoos were distributed, nationwide.  Dozens of volunteers were involved in local media newspaper and television articles. 

We met with the staff of a few Congressional members who agreed to work with LSI in assisting in recognizing the preventative measures with genetic testing and annual screenings and the need to eliminate co-pays for ongoing medical screenings and genetic testing, as well as offer genetic testing services for those individuals unaffected by cancers and who are covered by Medicaid, Tricare and Medicare.

The month ended with our Canadian representative who announced Manitoba will soon be performing genetic testing.

Finally, we interracted with many who are newly diagnosed with Lynch syndrome or those who were in need of assistance with genetic testing and annual screenings.  The need is getting greater every day and the numbers contacting us have doubled during the past six months.  Approximately fifty percent of the workweek is now spent providing support for our families and the other fifty percent with outreach efforts.  We are rapidly expanding and that is a good thing!

A short rest and then we're on to Relay for Life outreach efforts within our local communities.  We are beginning to send out packages including posters, tattoos and wristbands for Relay for Life events.  Be sure and request yours early...at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .  As always, there is no cost!

This brief questionnaire will help you determine whether you should be further evaluated for either Hereditary Breast and Ovarian Cancer syndrome or Lynch syndrome. On average, the quiz takes less than 1 minute to complete.

Hereditary Cancer Quiz

LSI is establishing a team for the , Sacramento Undy 500 Race to be held on March 2, 2013. For those in California, interesting in participating in a 5K Race, a 5K Youth Race or a 1 Mile Fun Run~ bring the families for a great time!  Write: This e-mail address is being protected from spambots. You need JavaScript enabled to view it for entry!

Rectal Cancer and the Lynch syndrome: ...less common than colon cancer,RC is an important component of LS and may be overrepresented in MSH2 mutation carriers. Given high risk of synchronous or metachronous cancers, appropriate surveillance for second malignancies is necessary.