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Lynch Syndrome International

Lynch Syndrome International


Linda Bruzzone has not set their biography yet

In 2008, while spending week four in a hospital bed recovering from a later stage colorectal cancer surgery and another subsequent surgery to resolve complications, I found myself suddenly realizing the seriousness of the family legacy of Lynch syndrome.

Awakening in ICU, I found myself trapped inside of my body, requiring assisted breathing, unable to speak, unable to think and questioning whether or not I would survive.  Repeatedly, my mind reiterated one sentence, “Go to a safe place.” 

A vision came-a beautiful spot of land on our ranch, where I had always felt at peace and there was a sudden solace.  Occasionally, a fleeting thought would appear, then disappear.  It was as though the mind was preset for survival mode. All it wished me to do was close my eyes and allow my body to recover.  It was as though it was guiding me to relax and rest. 

Our families with Lynch syndrome have to constantly remind ourselves, repeatedly, to relax and place our trust into our physicians and those who care for us.  We have to remain calm and in control, so our children will have the strength to genetically test.  We have to repeatedly remind everyone in the family that genetic testing is a gift. We have to be able to trust those who test us and those who care for us.

For years, my physicians were advised of our family history of cancer.  We knew something was terribly wrong in our family.  “Pretty horrific,” it was described by one of my current physicians, though is basically much the same as some and better than the thousands of other families we have encountered during our journey here at Lynch Syndrome International.  Instead of testing me genetically, my physician determined I should have a colonoscopy every five years, obstensibly to save money.  I remember being desperate to get a genetic test AND a colonoscopy and how terribly demeaning it was to have to beg…all I wanted was for it to be over…to know.  I remember the moment I realized how important those initial steps were.  I remember the feelings of betrayal, the devastation of the loss of trust and I remember preparing for the fight of my life, as a result.

Five years and nine months from the last colonoscopy, the results finally came in.  I wasn't surprised but like most others felt overwhelmed and desperate.  Three tumors...metastases and 38% chance of survival.  But I finally knew what killed my family and realized the only person, at that time, who hadn't been affected with a cancer, in our generation or my father's generation was my sister.

After surgery and then going through chemo, I had to see a genetic counselor.  The wait was forever.  In fact, by the end of the eight months when chemo was finished, I finally got to see one and then wait another five weeks for results. The wait was agonizing and, by then, I pretty much knew everthing I needed to know.  I remember the tedious task of going through chemo and fighting the effects of chemobrain, working word by word, one paragraph at a time, with a medical dictionary, translating the studies into layman language. 

On the internet, there was nothing in the way of information for patients online and there were no patients anywhere.  We didn’t know if anyone even existed or lived through a Lynch syndrome cancer.  This was especially true as my physician, my gynecologist, my gastro doc and my oncologist, and everyone in their departments had never heard of anyone with Lynch syndrome, though they served over a population of a million people.  By the time I was genetically tested, I was able to educate my physicians about Lynch syndrome.  The counseling session was a nice gesture and the counselor was great, though due to circumstance, there was nothing we learned which we hadn’t found online.

On the other hand, my daughter, who knew everything about Lynch syndrome and could probably teach her genetic counselor, found her session invaluable as she feared discrimination.  She didn't want to go to an appointment with a GC. She didn't want to know.  She needed time and encouragement from her doctor.  He encouraged her to test and the information received from the GC brought forward facts which motivated her take control of herself and her potential mutation.

Each of us has our stories, our fears and our dreams.  And each of us have hope that there will be change…positive change which will alleviate all the generalized perceptions, assist physicians in being knowledgable about Lynch syndrome, insure families we aren’t any different than others, with the exception that one of the thousands of genes in our bodies is defective—that we don’t need to fear discrimination or feel alone, during the process of finding our genetic test is positive and during our lives.

We see Lynch syndrome through the eyes of many...but the bottom line is what is best, is what is best for the patient, not what is best for the genetic community, the medical community, the commercial genetic counseling company and the insurance companies. Our goal is to educate the public about Lynch syndrome, educate medical professionals about Lynch syndrome, provide support for those with Lynch syndrome and support genetic research for Lynch syndrome.

We receive the telephone calls from those who are frightened, uncertain and who need to know what they may be facing in the future.  The majority have late staged cancers as a result of physicians not taking family histories. Those involved in Lynch families, ordinarily don’t call.  They want to speak to someone who has experienced Lynch syndrome to know what it would be like to live with it.   They are distressed about their children and genetical counselors' refusal to consider future testing for them.  They want assurances they can live, advice on how to eat, how to sleep, how to cope, how to adjust to a totally new life.  They live with the reality of Lynch syndrome.

We spend hours speaking with those who are affected, listening and discussing anything and everything they may wish to know.  The calls come in the mornings, during the weekends, at night.  They come whenever people are distressed. We share our lives and our families with them…together, we are one, as pioneers in the age of genetics.

We work closely with many genetic counselors, mostly those who work within community settings, at local hospitals, in the offices of physicians, clinics, and medium sized institutional settings.  They are the ones who are in the trenches, who are diagnosing our patients and providing ongoing support. They are carrying the load and doing wonderful things for us.  We refer individuals to genetic counselors across the country and find their services incredibly invaluable.  We have found many of those counselors agree not ALL people should be required to attend a genetic counseling session prior to being afforded a potentially lifesaving test. We advocate for genetic counseling and find it to be a beneficial service.

In some organizations, we have seen access to genetic counseling take as long as three to six agonizing months, with the average dependent upon the region where the testing is conducted.  The average is eight to twelve days to obtain an appointment.  This is because there are not enough genetic counselors to carry the load. It can be a long time, and a matter of life or death, when one is awaiting a surgery. The expedient diagnosis is essential as to make a critical, life affecting decision as to whether or not to take a foot or five feet of colon from one’s body or whether to give up the opportunity to have a child and have female organs removed at the same time as colectomy. Lynch syndrome cancers can metastasize during that time.  As counselors go through test by test to save money, usually in institutions, patients are seen as "subjects" and wait in fear.  In situations we've seen, such as this, there is little respect for those with the Lynch syndrome, however it is considered a good way to "save money" and not have to perform full sequencing to find the gene.

Yesterday, a press release was made which stated Cigna Health Insurance was mandating all individuals at high risk for hereditary breast and colorectal cancer, and Long QT syndromes obtain genetic counseling through their telephonic genetic counseling service partners, InformedDNA.  No other genetic conditions of the hundreds in existence were targeted.  My heart sank. For some reason, our syndrome was singled out.  It didn't feel right and it didn't feel good.  It made me and members of our family feel "different."

It wasn’t the first time events occurred in which perceived discrimination was expressed against those with genetic conditions.  The first was at a genetic conference, whereupon we sat in a room with thousands of genetic professionals and listened to James Watson refer to “mutants” who were “genetic losers.”  Mutants is a common term used by researchers in addressing us. It is not a nice word.  Mutated gene is not a nice term but is a common phrase.  We prefer to use defective. 

We listened to gasps of shock from some and the laughter of others as it slammed right at the center of our entire being. It was amazing to see the callousness of genetic professionals.  We chalked it up to Watson’s flambuoyant manner of speaking and made a mental note. It was the first form of discrimination experienced and it came from the genetics community. 

Another incident occurred during a passionate discussion with a medical professional who flatly stated, “We have to sacrifice some in order to save the masses.” It was in relationship to universal use of FIT (fecal testing for colorectal cancers) and claiming inability to take family histories to determine if the FIT test was the right test, due to cost.  We had seen callousness and refusal to test our families from physicians, but never anything this blatant.

It occurred last Spring when NCCN reduced the screening tests for our families and the U.S. Preventative Task Force determined testing, counseling and treatment for hereditary breast cancer and ovarian cancer genes would be considered preventative care and Lynch syndrome was ignored. We were there while the primarily genetics individuals developed and reduced the barest minimum of standard of care.  Only one of the dozens spoke with us.  They didn't care what patients experienced or thought.  And, we were the red headed step children who were treatedly disparately and ignored, even by the federal government, while our families died.

A few months ago, we observed upon the internet, a loose group of genetic counselors organizing into a their own organization and developing a database whereupon they were taking ALL the records from their hospitals and putting them into a database upon the University of Michigan website.  Individuals with no medical degree and a masters in genetics, without permission of patients are collecting patient records...and that same sick sinking feeling occurred.

I felt that same feeling yesterday upon reading the Sacramento Bee article which addressed the press release of InformedDNA which announced their partner, Cigna Health Insurance Company, is mandating genetic counseling targeting the three syndromes, without consideration of the family situation, the economic situation, the emotional effect of being treated differently, etc.  This occurred with no advance discussion with those affected…no sensitivity toward them and even with an intent for them to pick up the bill of their reasoning…because they feel doctors are not doing the job correctly.  The reason was cited it was because were doing the "wrong test."

Someone has to pay for this program of Cigna's, developed to save costs so they can use lessor expensive tests----so it falls upon our families, who also have to pay more for colonoscopies, since our screenings are not covered as preventative under the ACA and the USPTF, though the hereditary breast and ovarian cancer syndromes are.

But what about the rights and the feelings of the patients?  Where is our right to privacy? Where is our right of choice...take the test and submit to telephonic counseling or take the risk of dying?  Its clear the arrogance of the some in the genetic community is bordering on disrespect toward patients and is obviously engaged in severe ethical issues.

The question is, if the problem is medical physicians not ordering the right test, then, why aren't the genetic professionals leaving their desks and educating medical professionals how to test? That is their job.  Some major institutions have as many as eight to eleven genetic counselors in one facility...and only an average of ten annual diagnoses of Lynch syndrome...about one apiece per year. We have seen it occur in major cancer centers.  Why not get the genetic counselors out of their desks and into hospital lobbies educating the public, into the community and out on the floors, educating the doctors?  Why aren't they performing triage in gastroenterology clinics?  Why are they making patients, whose entire families are affected by cancer, go through hoops so the genetic professionals can make money and the insurance companies can save money? Something is terribly broken here and Lynch syndrome is the genetic community's and the medical community's worst failure.  Everyone begs for a cure for cancer...and we have the closest thing to it and they don't seem to want it.  If its not about saving lives, or preventing cancers, then it has to be about the money derived from the multi billion dollar industry of cancer.

For those family members who have a family history of Lynch syndrome and who are familiar with the risks of genetic counseling, counseling is often unncessary.  The test is reasonable, for family members of those with Lynch syndrome...under $450 per test. Genetic counseling doubles the cost. It increases the cost of the co-pay of the test for the patient and imposes further costs upon the patient, including cost of daycare, travel costs and three days loss of wages to receive on test.  Taking all this into consideration, on average, the cost for the individual would be as much s three hundred times more than the cost of the test.

In 2010, this ame discussion was held with a genetic counselor who worked for a commercial testing company which works with Cigna.  She insisted ALL persons should undergo genetic counseling.  We discussed the burden of taking off work for an additional two days and how families couldn’t afford it…she didn’t care about that or the minimum wage earner. That lead into a further discussion with a leader of the NSGC, who was upset with the above conversation.  We explained to her how when someone grows up in a Lynch syndrome family, they know what is going to be presented to them and most feel genetic counseling is a waste of time. The younger ones at risk are not genetically testing because they don't wish to attend genetic counseling, rather than having to jump through the hoops of taking time off work, which most can't afford and spending three days to get a lab test.  She felt everyone should go through genetic counseling.  We understand. It is her livelihood and she represented the livelihoods of other genetic counselors.

We believe it should be a choice and we believe some people are not listening to the voice of the patient and really don’t care what they think.  We believe medicine should take care of the patient and keep in mind what is best for the patient is best.  It should be the priority in any health care setting.  

With Cigna’s plan, if a patient has a policy that requires a co-pay, the patient will be required to pay the co-pay and increased costs for the patient. In short, the patient will have to pay for the lack of accountability of the professional organizations, the genetic counselors and the insurance companies in educating physicians.

Cigna advised, within their policy, there will be a choice of face to face consultation or consultation over the telephone, offered the patient. This is discrepant with the statement from InformedDNA, upon our website stating if one didn't already have a relationship with a genetic counseling provider, they would receive telephonic services.  Cigna stated they had not determined a preferred provider, as of yet.  A Cigna executive was asked about what they would do with the Next Generation panels of testing which are currently hitting the market and which would alleviate the need to determine “the right test.”  No mistakes can be made with them.  Following hesitation, it was stated it was something to consider.

Lack of attendance at mandatory sessions with genetic counselors, in order to get testing, is a major problem.  It was exemplified in a study which indicated 29% to 36% of patients didn’t attend genetic counseling.  http://www.cancernetwork.com/colorectal-cancer/content/article/10165/2131089  To make it mandatory only creates another barrier, especially when there is also an increased cost associated with the mandatory policy. 

When it comes to neglected diseases which are grossly underdiagnosed, such as Lynch syndrome, there is room for everyone.  The first priority is to get the person tested, especially if the person is pending a cancer diagnosis.  That is not being done and this policy will have no effect upon that immediate problem, certainly not by the genetics professionals, who by inaction are letting the patients down.

There are thousands of physicians, who are educated, doing an excellent job of diagnosing patients. Today, more individuals are being diagnosed by community physicians, physicians assistants, nurses and community genetic counselors than by any other organization, including major cancer centers.  Individual practices of physicians are diagnosing as many people annually, with Lynch syndrome, than entire cancer centers.

The key to survival is to leave many options open.  People feel comfortable when they have choices.  They feel comfortable when sensitive matters, involving family and health, are maintained on a community level, with people they know and people they trust.

Clearly, InformedDNA knows genetics and Cigna knows health insurance provision, but they don’t know people and especially people with Lynch syndrome.  If they did, they would have been more sensitive and worked with those who have the actual ground experience with those with hereditary conditions to develop a program which is of benefit to the patient, not to the genetic counseling commercial corporation and the health insurance company.

We wish Cigna would stand up and say, "For our patients who may be at high risk for hereditary cancers or genetic conditions, we are now furnishing the services of voluntary genetic counseling, which we highly recommend and feel may be beneficial for you. This can be obtained through our health care offices, our great network of physicians or for your convenience, telephonic counseling. "  We wish they would offer a choice, rather than simply target conditions, treat patients as a different class of people and dictate with a heavy hand.

One thing derived from this is there has been communication established with the insurance company and that is a positive thing.  Hopefully, we won't continue to be on the opposite polarities in the future and we can have a meaningful dialogue of what is best for the families affected by Lynch syndrome and know our sole interest is for your families and the patients.  We are not motivated by profit or anything else.

As for the “for profit” genetic testing corporation, InformedDNA's mission is different than ours.  They are a "for profit" corporation without the passion we, the patients, the physicians, the nurses, the physician assistants and the genetic counselors in the trenches feel for the syndrome.  They don't see or meet us personally.  They don't see our families. They don't know us as people, only voices.  They are motivated by money.  They don't educate the public, or participate with or become involved in a personal relationship with patients.  They sit on phones and shuffle paper. They don't look into our eyes, see the fear or the tears, or even see the faces of those affected. They don't reach out to us or, for that matter, even return telephone calls.  They are a simple solution for a quick fix for genetic counseling, but they are not there to provide the crisis intervention of personal interaction often required in a follow up visit.  They are simply nothing more than a cold, impersonal process and a hoop to jump through to get a life saving test to save our families.  

Nonetheless, despite our claims that they don't talk or listen to patients, InformedDNA has reached out and written a post on our FACEBOOK page and reinforced what THEY feel is best for our families on our FACEBOOK page. It is telling, especially in the cold, esoteric manner in which it is written. This was after they were unreceptive to us the evening before, and even laughed and hung up the phone when we advised we and others affected by Lynch syndrome felt a form of discrimination from the mandated targeting and disparate treatment we have received historically (evidenced by their FACEBOOK site which primarily had ALL posts on BRCA testing and nothing about Lynch syndrome.)   

Hopefully, at some point, they will be able to look at individuals with Lynch syndrome through another perspective, as human beings and people.  If they ever do, it may be the first chink of tearing down the shrouds of paternalism and the first seed of compassion. If not, they can laugh even harder as we take on this problem and challenges in different arenas.  That would be a good start.

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We’re growing so fast, we have run out of space! 

Not on our website, but within our work and storage space.  During the past four years, the tradition of Lynch Syndrome International has been to work out of homes and off our computers, however, we have found there is not enough room to store the ten foot  by ten foot exhibit booth, the banners, the tens of thousands of brochures, wristlets, tattoos, postcards, posters, thank you notes, t-shirts, bracelets and other items which get distributed each year.  As to that, our hard files, our soft files, office equipment, file cabinets, office supplies and everything else,  and we realized we have a major operation going on here—LSI is no longer simply a collaboration of thousands of families and medical professionals globally, but a pretty sophisticated network.  So… we had to sell out (well, kind of, rather compromise) with our existing culture of volunteerism and extreme fiscal conservatism and obtain office space.

The hunt was on for the perfect place.  Finally, Laughlin, Nevada was chosen to host the office and warehousing of materials of Lynch Syndrome International.  Why in the devil would LSI be located in the middle of the Mojave Desert, ninety miles south of Las Vegas? (Besides close proximity to the second home of one of the founders?)  Well, for several reasons…

LSI is all about embracing life.  There is no place in the world where life gets any more lively than in Laughlin, Nevada, which is nestled against the winding Colorado River and just outside the beautiful jewel of the desert, Lake Mojave.  The air is clean, the desert is healthy and with all the outdoor recreational activity offered, it’s a great place to embrace life.

But aside from that are the practical benefits…the logistics of Laughlin allow easy access to Las Vegas, a city with a population of over two million people, and ready access of merely a few hours, by car, to reach major cities in Arizona and all the major cities in Southern California, which are in dire need of attention and of public awareness.

Vegas and San Diego are the kings of conferences and meetings.  There are immense savings in access to these areas. Plane fares in and out of Las Vegas are very reasonable and would save us considerable money in travel costs to other locations and Los Angeles, San Diego and the Central Valley, as well as Phoenix, Scottsdale, Tucson, Albuquerque, Santa Fe, Reno and even the Bay area are only a hop, skip and a jump away. 

The climate of the government structure and the legislature is very friendly to non-profit organizations and, in Nevada, exists many corporations which operate active corporate giving programs.  The office space is one quarter the cost of office space in Northern California, the utilities, one third of the cost.  Fuel costs are approximately fifteen to twenty percent less. 

The real value is in the hearts of the people of Laughlin who reside within the town during the winter months.  We would have an enormous volunteer base with an incredible skill set, who would be readily available to work at the conferences at the Las Vegas Convention Center, prepare mailings to physicians and organizations, prepare packages for our grassroots organizations and answer phones which would free us up to continue with our mission.

Further, this move would allow Lynch Syndrome International to maintain our culture of volunteerism, with no person compensated for their efforts.  It would cut the costs of doing business, including reducing the cost of our annual Board meetings by twenty percent.  We would have meeting space and corporate meeting space to hold seminars and activities.  We can keep operating as we have with an active readily accessible volunteer base to supplement our grass roots efforts.

This is a “win-win” situation creating a great balance in working between Northern California which offers ready access to the Pacific Northwest, the western states and the Northern states and Southern Nevada which gives us access to Southern California and the Southwest United States.

We are excited about these new digs and coupled with retention of the “old digs,” Lynch Syndrome International is maturing and “growing up.”  The opportunities are boundless to help us meet our mission and to reach out further to protect families and save lives!   

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Kudos to the European Group (Mallorca Group) for their revised set of guidelines for those with the Lynch syndrome.  While the U.S. guidelines were decreased significantly, during a meeting of the NCCN Committee this year, the Mallorca Group considered many aspects, reviewed scientific evidence and increased the level of surveillance for those affected by LS. 

The report was written in an organized and in an easily understandable manner, offering additional guidance to medical professionals in conducting screening management protocols.

In the meantime, many of us are shaking our heads and wondering what occurred this year with the Committee of the National Comprehensive Cancer Center Network in writing their guidelines.  We haven't a clue, as only one member of the Committee spoke with our advocates who were present, therefore, our voice and input wasn't considered. 

While the Europeans offered more in screening tests and a tighter schedule in screening intervals, the NCCN took an entirely different approach, increasing the interval between screening for colorectal cancer and decreasing screening suggestions for extracolonic cancers.  To further complicate screening protocols for medical professionals, they added a complicated differentiation in screening intervals and ages to begin screening between those affected by defects in  the MSH6 and PMS2 genes, and those affected by the MSH2 and MSH6 genes.

This approach is interesting especially in the recent revelation that NCCN facilities nationwide are sorely deficient in the diagnoses of Lynch syndrome in comparison to their Community Hospital and Clinic counterparts and their European counterparts.

We appreciate the guidance offered to medical professionals for suggested screening for women and women's cancers, addressed by the European Group (Mallorca Group) and the consideration for screening other extracolonic cancers of the Lynch syndrome, as it brings hope to a population which is in desperate need of consideration from the medical community. 

Hopefully, the NCCN Committee will learn something from their European counterparts...we certainly hope so in light of this year's guidelines.

To gain access to the Guidelines:

European Group - Mallorca Group    Simply tap on the link:  http://gut.bmj.com/content/62/6/812.full 

NCCN:  Click on the link, register, click on Colorectal Cancer Guidelines, Scroll Down to Hereditary Cancer Guidelines  www.NCCN.org 

 

 

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can mean so much to an average family--an average Lynch syndrome family, that is.

At last!  A government program which significantly benefits the families of those with the Lynch syndrome.

As most of us know, the United States Government insurances seldom pays for genetic testing for Lynch syndrome for those who have not been affected by a cancer.  These insurances include Medicare, Medicaid, V.A., Tricare and other insurances who rely upon their standards for guidelines and underwriting.  (Shhh, secret stuff---the trick to obtaining genetic testing under Tricare is to seek the genetic care on an actual U.S. military installation, rather than an outside Tricare provider. )  This is something we have been working on and will take a LOT more work…however…the good news!  They are doing something else…with the creation of "The Blue Button"!

The Blue Button is a program which allows individuals to download their health records, online, to their own personal computers.  This not only allows more personal control over health records and their own health but does something more…

Remember how genetic counselors are always talking about how family communication is a problem within Lynch syndrome families which needs to be improved?  Simply having access to immediate possession of your medical records and the ability to send that important genetic test result or the personalized managed screening test protocol to your loved ones, is invaluable.  It can save time and delay, not to mention save lives and eliminate frustation when dealing with the GC who is adamant in seeing the actual medical records of family members before considering prescribing genetic testing! (Something else needed to be resolved in attempting to receive immediate lifesaving tests and treatments when ill.)

There is nothing more difficult for someone who is undergoing a cancer and awaiting treatment, than to have to stand in lines to request information, pay $1 per page for photocopies, wait weeks for arrival for records or be forced to call emotional family members and beg for information and wait for them to be able receive their medical documentation in order to save one’s life.  In fact, it is almost impossible to do when many don’t even know how they will find the strength to even get up and answer the front door for the grocery delivery person. 

The “blue button” makes it easier on everyone and saves time, costs, money AND trees!  Encourage your GC to speak to their local hospital administrator, as well as to your doctor, and request their institution or facility develop a program so you can get acess to your medical records using the blue button technology!  Its a great resolution to immediate access to medical records.

This program is a great start for everyone to work on, with their own personal medical providers and health systems, while we continue to work on the bigger issues with government of the access and provision of lifesaving genettic testing and management screening tests for all! 

For more information on the Blue Button, go to:  http://bluebuttondata.org/about.php 

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Lynch Syndrome International announced today that Carrie Snyder, MSN, RN, APNG, of Creighton University has been appointed to the Board of Directors. 

Snyder currently serves alongside, Dr. Henry Lynch, a co-founder of Lynch syndrome and who is often dubbed as the "Father of Hereditary Cancers." 

Having worked alongside him, for so many years, Carrie is an excellent fit to provide guidance and advance Lynch Syndrome International  in the capacity of performing Lynch syndrome awareness, innovation and education in the fields of research, education and clinical provision.

Carrie is an outstanding addition to our diverse Board of Directors.  Her significant insights and outstanding ability to communicate with individuals from all spectrums will be invaluable to us as we continue in our mission to create Lynch syndrome public awareness, education of medical professionals, provide support for those with the Lynch syndrome and support research endeavors.

We welcome Carrie and look forward to drawing upon her vast experience, as well as call upon her strategic, operational and clinical judgment in enhancing the rapid development of Lynch Syndrome International, globally. 

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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 

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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.

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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 

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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# 

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Study from Spain finds pathogenic PMS2 mutations were detected in 69% of patients harbouring LS associated tumours with loss of PMS2 expression. In all, PMS2 mutations account for 6% of the LS cases identified. http://jmg.bmj.com/content/early/2013/05/23/jmedgenet-2012-101511.short?rss=1 
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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. 

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Recently, in Holland, a study was conducted to determine how to cut costs of care for those with Lynch syndrome.  Researchers systematically assessed processes and then spoke to the patients and asked THEM what they felt was important with their care.
 
We give kudos to the Dutch for their recognition of the importance of integrating the patient into consideration of policies and procedures in respect to their care with Lynch syndrome. Their open, welcoming manner breaks barriers for patients and makes life with Lynch syndrome much easier.  We appreciate and recognize their efforts in putting patient care first.
 
Their search to cut costs was successful through: (1) preventing cancer/detection at early stage (2) RAPID RESULTS OF MMR GENE MUTATION TESTING... (3) rapid investigation of the colon and uterus (4) no/little pain during colonoscopy and gynaecologic examination/biopsy (5) offer of psychological help; (6) registration with the Dutch Lynch syndrome registry.  
 
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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!

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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/

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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

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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.

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Loss of PTEN (phosphatase and tensin homolog) expression and microsatellite instability are two of the more common molecular alterations in endometrial carcinoma. MD Anderson study of 187 endometrial carcinomas revealed PTEN immunohistochemistry, in combination with tumor histotype, is a useful adjunct in the clinical evaluation of endometrial carcinomas for Lynch Syndrome. http://www.ncbi.nlm.nih.gov/pubmed/23599155    
 
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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! 

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March was a terrific month for Lynch syndrome public awareness.

 

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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!

 

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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!

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