Women with Lynch syndrome: Graduate Research Study

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Women with Lynch syndrome — Graduate Research Study

Patient advocacy is, among other things, the provision of information and support to empower patients to confidently take control of their health. While patient advocacy exists in all facets of healthcare, it is especially crucial the realm of hereditary cancer syndromes, where targeted patient education can save lives. Therefore, in order to be the best possible patient advocate, it is extremely important that healthcare providers are meeting the informational needs of this unique population. There is a lot of information to cover with newly diagnosed patients (both those who are diagnosed with cancer and those who are diagnosed through genetic testing): cancer risks, ages of onset, available treatments and therapies, screening strategies, risk-reducing surgery options, cancer genetics, inheritance patterns, referrals to other providers, available patient resources- the list goes on. With so many topics that need to be discussed, I began to wonder if healthcare providers were delivering the appropriate amount information at the appropriate time.

While researching the current literature, I quickly realized that there was a significant gap in knowledge about the informational needs of women with Lynch syndrome. There was very little research regarding the discussion of cancer-related fertility risks, fertility preservation and risk-reducing surgeries with this patient population. It was not clear whether or not patients were receiving enough information about these topics to make informed decisions. This is surprising for a number of reasons. Women with Lynch syndrome are at an increased risk of having colorectal cancer at a young age and the available treatments for this type of cancer can impact a woman’s fertility. For young patients with cancer, there are fertility preservation options available that can reduce the risk of infertility. Women with Lynch syndrome are also at an increased risk for endometrial and ovarian cancer, for which the guidelines recommend consideration of a hysterectomy (removal of the uterus) and a bilateral salpingo-oophorectomy (removal of the ovaries and uterine tubes). Aside from the obvious impact on fertility, these surgeries create a surgical menopause, which can cause a wide range of health problems. Unlike many other hereditary cancer syndromes, Lynch syndrome can be caused by five different genes, each of which have different cancer risks. These differences in risk values are important to be aware of, especially when considering risk-reducing surgeries.

Major healthcare organizations and professional societies have released guidelines recommending the discussion of these topics with women in this patient population. But, there is no research on how healthcare providers carry out these guidelines in their own practice. I also struggled to find any evidence to prove whether or not these topics were effectively being discussed with patients, based on their own report. However, I did find many patient stories, in support groups and blogs like this one, that discussed the overall lack of information received about these topics.  

Clearly evident on her website, Georgia has been tremendously honest and authentic about her experience with Lynch syndrome. She is an exemplary patient advocate, as the posts not only include her personal trials and triumphs but also provide a fountain of information and resources for other individuals living with Lynch syndrome. Her efforts have widespread implications: her sincere encouragement of others to take charge of their health care is empowering, and her frank recounting of her own health journey highlights a need for improved care for patients with Lynch syndrome. A central feature of this improved patient care is the need for better information delivery. I believe that such improvements will be possible if we gain a better understanding of the patients’ perspective, which will allow us to not only identify if current healthcare practices are successful but also identify areas for improvement.

If we don’t recognize the informational needs of our patients, how can we really call ourselves patient advocates? With my research, I hope to understand how women with Lynch syndrome are being educated about their fertility and identify ways to improve those conversations. By learning from your experiences, we hope to gather information that will help doctors, nurses and genetic counselors know how to address this complex topic in women with Lynch syndrome. I invite you to participate in this survey to share your opinions!

Thank you for your consideration.

https://www.surveymonkey.com/r/lynchsyndromeresearch

Yours,

Rachel Hickey

Genetic Counseling Program
University of South Carolina Class of 2017

 

G’s Book Review of The Gene By Siddhartha Mukherjee

G's Book Review of The Gene

G’s Book Review of The Gene

“Human beings are ultimately nothing but carriers — passageways — for genes. They ride us into the ground like racehorses from generation to generation. Genes don’t think about what constitutes good or evil. They don’t care whether we are happy or unhappy. We’re just means to an end for them. The only thing they think about is what is most efficient for them.” – Haruki Murakami IQ84

Sid and I have something profound in common: “Scarcely a day passes in my adult life when I do not think about inheritance and my family, writes Sid.” He has a family history of schizophrenia; I have a strong family medical history of Lynch syndrome and early deaths — we both think about our familial genetics on a daily basis. I fell in love with Sid’s work back in 2013 when I devoured The Emperor of All Maladiesgoo.gl/xGcJLfThe Gene is his latest heroic effort to discuss the history of genetics and the implications that scientific advancements may hold for our genomes.

Sid. Is. Nothing. But. Brilliant.sid

He argues: “… it is impossible to understand organismal and cellular biology or evolution — or human pathology, behavior, temperament, illness, race, and identity of fate — without first reckoning with the concept of the gene.” Having a background in biological anthropology and science I know this, I understand this. Genetic mutations, both good and bad, are necessary for the intricate processes of evolution.

Early on in the book, Sid discusses the pillars of genetics including: the Ancient Greeks, Gregor Mendel, William Paley, Charles Darwin, Charles Lyell, Reverend Thomas Malthus and Alfred Russell Wallace. We are introduced to the father of the eugenics movement — Francis Galton.  Sid discusses history of eugenics and how people, mostly women, who were not deemed normal — ranging from dyslexics, orphans, prostitutes, and schizophrenics — were sterilized. Nazi Germany, along with Josef Mengele’s desire to eliminate “genetic detritus” is discussed. Honestly, I found this to be one of the most macabre, yet fascinating chapters of the book. My husband lost three of his grandparents in Auschwitz — I could not help but wonder if they endured the horrors Sid discusses.

This book is written for the layman but in all honesty, it is dense, deep, and long. Sid’s depth of knowledge and his uncanny ability to synthesize information from various subjects is overwhelming. As an advocate for those with hereditary cancer syndromes, I was happy to read that Sid shares my sentiments regarding inheritance. We inherit more than just our genes with our families — “…bad habits, bad recipes, neuroses, obsessions, environments, and behaviors.” I try to remind people with hereditary cancer syndromes about this all the time — consider the recommended risk-reducing surgeries per your mutation, be vigilant with your screenings, but also consider deviating from your family’s bad habits and behaviors, too. Cancer is the result of “hereditary, evolution, environment, and chance all mixed together,” writes Sid. Like I’ve always said, cancer is complex and a constellation of factors is involved in its development.

A few things more things I found interesting in the book…

  • The word “mutant — a word that implies not just statistical uncommonness, but qualitative inferiority, or even moral repugnance.” With the genetic testing skyrocketing and more people becoming familiar with their deleterious mutation status, this word must stop being used. Whilst we are at it, let’s change the insulting and demeaning language surrounding cancer, too. “Survivor,” “previvor,” “fighting cancer,” “losing the battle,” — medical lexicons — it all has to go.
  • My former professor on Human Sexuality from Northwestern University, J. Michael Bailey, a provocative and controversial figure, is mentioned in the book for his progressive work on homosexuality. Yes, unless you’ve being living in the Mesozoic Era, homosexuality has genetic roots. You may have recalled Professor Bailey in the news five years ago for his after-school sex toy demonstration with a naked woman. Sadly, this after-school demonstration was not offered to my undergraduate class.
  • Thank God for Sid. He does a stellar job of articulating the implications of what it is like knowing you hold a deleterious gene mutation as he hits the nail on the head. “The future of a woman carrying a BRCA1 mutation [or any other hereditary cancer syndrome] is fundamentally changed by that knowledge — and yet it remains just as fundamentally uncertain. For some women, the genetic diagnosis is all-consuming: it is if their lives and energies are spent anticipating cancer and imagining survivorship — from an illness they have not yet developed. A disturbing new word, with a distinctly Orwellian ring, has been coined to describe these women: previvors — pre-survivors … The prophylactic treatments — mastectomy, hormonal therapy — all entail physical and psychological anguish and carry risks in their own right.” This quote reminded me of Paul Kalanithi’s quote: “How little do doctors understand the hells through which we put patients,” from the book When Breath Becomes Air. As a Lynch + female, I greatly appreciate this observation and sentiment — this anguish he mentions was the impetus for me to write about my experience with Lynch syndrome. The great lengths, which we, patients, with hereditary cancer syndromes go through to prevent cancer, are often minimized and disregarded. Much gratitude for bringing this to everyone’s attention, Sid.
  • Genetics are complex and fascinating. Medical advancements and genetic editing technologies are raising complicated ethical and moral questions — and this becomes even more complex across cultures.
  • We must realize and accept that “humans will produce variants and mutants; it’s an inextricable part of our biology … normalcy is the antithesis of evolution.”
  • By the way, even though Sid does not mention this in the book, surely an oversight, men are also at risk for BRCA and other hereditary cancer syndromes. Hereditary cancer syndromes are deemed autosomal dominant meaning that a male or female carrier can pass these deleterious mutations onto both their daughters and sons. Each child of parent carrying a deleterious mutation has a 50/50 of having that mutation, too.

This is a must read for those interested in genetics — I highly encourage all of those who advocate for those with hereditary cancer to read this book.


Did you know ihavelynchsyndrome.com has a Facebook page? Read the latest reviews about ihavelynchsyndrome.com‘s advocacy efforts! https://www.facebook.com/ihavelynchsyndrome/reviews

Gratitude to Pathway Genomics for sponsoring ihavelynchsyndrome.com and its mission! Together we are helping people and saving lives!

To learn more about Pathway, its hereditary cancer products, information regarding genetic counseling, and the genetic testing process, please go to: https://www.pathway.com

pathwayYours,

Georgia Hurst

Founder and Executive Director of the nonprofit: Ihavelynchsyndrome.com

Living with Lynch syndrome: Guest Blog by Elizabeth Cappaert

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My last entry in August 2015 (http://goo.gl/xzW91x) focused on my upcoming hysterectomy and emotional reactions. I mentioned that I was diagnosed with colon cancer in May, Lynch syndrome in June, and endometrial cancer in July. Here, I hope to share in greater detail about what I’ve lost, found and claimed since I first heard “cancer”.

My first cancer diagnosis came in May 2015. After 2 trips to the ER for unendurable abdominal pain, I was finally referred to a GI doctor who scheduled a colonoscopy. I shared my family history of colon cancer, but the doctor seemed convinced that my pain was most likely caused by colitis. After all, at age 32, I was 20 years younger than the youngest person in my family to be diagnosed with cancer – who was an uncle, not a parent. As a result, the doctor put me on a low-residue diet for the month up to the colonoscopy. I couldn’t eat more than about ½ a cup of solid food a day without either vomiting or having horrible pain – broth and sugared sodas gave me enough energy to continue my job as a teacher.

After the colonoscopy, my doctor  explained that a 6 cm tumor was causing my terrible pain and had almost completely blocked my ascending colon. Regardless of whether it was cancerous or not, he would have to remove it soon. All I could say, over and over again, was, “Cancer? But I’m only 32”. Pathology confirmed that the tumor was cancerous and I had 31 cm of my colon removed, as well as my appendix.

While recovering in the hospital, my oncologist recommended testing for Lynch syndrome. I signed the paperwork, had my blood drawn and tested positive for Lynch syndrome.

As I stared at the high chances I had for all types of cancer, I felt my anxiety climbing. When I saw that the suggested preventative treatment for endometrial and ovarian cancer was a hysterectomy and oophorectomy, tears spilled down my cheeks. Single, with no children, my hopes and expectations of one day having a family of my own were blown away by the hurricane of cancer lurking in my genes. Even if I found a man the next day, would I dare risk my child carrying this Lynch syndrome gene?

My oncologist said that as long as everything was fine, I wouldn’t need a hysterectomy for another 8 years and that it was possible to test embryos for Lynch before implantation by using IVF techniques.

I then went to the gynecologist who found a polyp the size of a pencil eraser in my uterus. A polypectomy and D&C were scheduled, and the pathology report came back partially precancerous and showed the beginning stages of cancer. My gynecologist recommended having a hysterectomy and removal of my ovaries, since I had an elevated risk of ovarian cancer.

Shock. Fear. Anger. Grief. Even now, those emotions wash over me. Time seemed to speed by; yet, I was frozen in place. The fear of the cancer returning, worsening, spreading was modeled by a coworker dying from ovarian cancer a year after “beating” breast cancer. I didn’t want to get cancer again, but I was also worried about what would happen after I lost my ovaries. Other than a close friend from college who had walked a similar road with endometriosis, and my newfound online friend, Georgia, I seemed to be the only one so concerned. My oncologist, gynecologist and gynecologic oncologist all seemed more focused on reducing my cancer risk rather than quality of life. So, I moved forward thinking that my reproductive system would not be removed unless I was in immediate, grave danger.

I almost asked for my ovaries to not be removed. Due to my parents’ concern about the risk for cancer, I didn’t. I wept while receiving the anesthetic. There were no complications in the surgery, and my gynecologic oncologist said that my pathology report was completely clear. I smiled and shook his hand, but inside, I was screaming.

I could have waited. I didn’t need this surgery now. I could have kept my girl parts. But there was no going back. My uterus and ovaries were gone – I was sterile and had lost a part of myself that I could never reclaim.

I felt like I had lost my soul on the operating table. I would cry and be unable to stop – sometimes falling on the floor or vomiting from the intensity of my sobbing. I felt dead or that I needed to die. It was only because of Georgia – her bravery in documenting what she went through – that I had any clue that this wreckage that used to be my life was caused by my new hormonal imbalance. With her as an example, I hounded my gynecologist to up my prescription. When my gynecologist suggested that I had enough hormones and just needed to get used to it, I demanded a blood test. The next day I had a larger estradiol prescription. When I asked for a progesterone prescription, as well, my gynecologist wanted me to try a sleeping pill. Only when that pill was found to make me suicidal did my doctor agree to giving me a progesterone prescription. It took about 4 months and a LOT of calls and visits to my doctor to finally get a combination that makes me feel somewhat normal. Even so, I’ve lost about 1 in. in height, have hot flashes and have gained weight. It would be worse without them, though. I doubt I’d be alive.

Since my hysterectomy, I wear makeup more. I’ve grown out my hair. I feel like I’ve claimed my femininity in a new way. To look back and focus on the horror and tragedy of the past year was to die, and I chose to live. For years I’d put off things – no more. While none of us know how much time we have, I figure that if I live long enough, I’m bound to get cancer again. I don’t want to feel like I’m facing death again without being fully alive.

I met the love of my life in December who proposed in February and we were married on the Sunday before Memorial Day – exactly 1 year and 1 day since I got the pathology report confirming colon cancer.

I told him about Lynch syndrome on our first date and it didn’t faze him. He has no children either, but together we hope to adopt, perhaps an older child who would struggle to find a home otherwise. Some might say we rushed things, but why wait when you know what you want? Even more than most, we have to take things a day at a time.

Two weeks after we were married, I had my annual scans and colonoscopy and everything looked good. Thankfully, I don’t need another colonoscopy until next June.

Until then, I live.


Thank you for sharing your story with everyone, Elizabeth and best wishes on your recent marriage!

I could not do my advocacy work and help people like Elizabeth without the generous support of Pathway Genomics.

Pathway recognizes the importance of ihavelynchsyndrome.com’s mission of spreading awareness about Lynch syndrome and filling in the medical gaps for those with it after genetic testing has been completed.

To learn more about Pathway Genomics and Lynch syndrome, please go here: https://www.pathway.com/lynchsyndrometrue/.

Yours,

Georgia Hurst

Founder and Executive Director of ihavleynchsyndrome.com

 

What do BRCA and Lynch syndrome have in Common?

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A few years ago, Karen Malkin-Lazarovitz, founder of the BRCA Sisterhood on Facebook, reached out to me and asked me if I would be interested in being an administrator for the group. The BRCA Sisterhood is the largest BRCA Facebook support group for women, with almost 7,000 members – it’s an incredible resource for those who have been recently diagnosed with BRCA and are considering options for how to proceed. Karen’s group includes women from all over the world who share their stories, decisions, and intimate details of their lives. Since I have had my own share of issues following the removal of my ovaries, this group has also been a huge source of support for me. In addition, I have gained tremendous insight into the reality of what life is like when you carry a BRCA gene mutation. It may shock some of you but if I had to pick between BRCA mutations and MLH1 (one of the five Lynch mutations), I would stick with MLH1.

When Karen reached out to me it was because many women in the group who were undergoing genetic testing for BRCA discovered they, in fact, had one of the five known Lynch syndrome mutations. There were also a few women in the group who carried both a BRCA mutation and a Lynch syndrome mutation. Karen, being a stellar advocate, understood the need to have someone with Lynch syndrome as part of the administration team. While cancer risks and implications differ between Lynch syndrome and BRCA, there happen to be many parallels between the two conditions. Many women who carry a mutation in BRCA or Lynch syndrome undergo similar prophylactic measures – specifically regarding the removal of the uterus, ovaries, and fallopian tubes.

However, many BRCA positive women also undergo prophylactic double mastectomies to drastically reduce their risk of breast cancer. Some opt for breast reconstruction with the hope of trying to regain some level of physical normalcy. While these BRCA positive women may be reducing their breast cancer risk by having their breasts removed, many also suffer long-term consequences as a result of their breast surgery or reconstruction. Some women report chronic pain in their upper body, a loss of upper body strength, and/or a lack of sexual sensation in their chest. Some women opt to keep their nipples, others have 3-D nipples tattooed, while others decide to forgo nipples altogether. After my ovaries were removed, I felt highly defeminized–so I cannot begin to fathom how women with BRCA gene mutations who undergo mastectomy feel, specifically those who cannot afford to undergo breast reconstruction, as that would be something very important to me.

Not everyone has access to Angelina Jolie’s breast surgeon or top-notch medical care or can afford to take extended periods of time off of work. Not everyone understands that women with BRCA gene mutations are not simply having “boob jobs.” Women are doing this to save their lives. Mastectomy and breast reconstruction can be a long, arduous, painful process. Plastic surgeons’ skills and aesthetics vary. Just like any other profession, there are those that are great and those that are not so great. A patient can be thrilled with her final results or a patient can be unsatisfied, or even disfigured, which then only brings on a constellation of other problems – financial, physical, and emotional.

The one thing that concerns me deeply is that many women and men with BRCA mutations may know they are carriers and the women are going to great lengths to reduce their breast and ovarian cancer risks but are not being properly screened for other cancers for which they are still at risk. Men can also carry and pass on a BRCA gene mutation to daughters AND sons. Other cancers associated with BRCA mutations include: the pancreas, stomach, colon, melanoma, and the prostate in men. In addition, one in 43 Ashkenazi Jews are BRCA mutations carriers. Unfortunately, many Jewish people have significant medical gaps in their family medical history due to losing their families in the Holocaust and may therefore not have a complete family history, that may have tipped them off to being at increased risk.

For example, it is recommended that screening for colorectal cancer for women and men with a BRCA1 mutation be initiated at an age of 40 years but I have found most BRCA carriers don’t know about this risk for colon cancer. According to Ellen Matloff M.S., CGC and President of My Gene Counsel, “Some studies have suggested that women who carry BRCA mutations are at increased risk for colon cancer, especially if they have a strong family history of the disease, while others show no increased risk. Although national guidelines do not recommend additional colon screening for BRCA carriers, it is recommended that carriers explore their family history for colorectal cancer and, if there is a strong family history and/or cases diagnosed before age 55, speak to their physicians to see if they qualify for additional and/or earlier surveillance.”

More than this, most women who are having genetic testing are not even meeting with a certified genetic counselor; their doctors are not referring them to one. Even if you have undergone the prophylactic surgeries, please be sure to seek out a certified genetic counselor so you may better understand your particular genetic mutation as well as ensure that you are undergoing the correct health screenings. Appropriate health screenings, even after surgeries are still important to maintain your health. This way, if cancer occurs, it may be detected as early as possible when it’s most treatable.

Works Cited:

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

http://oncology.jamanetwork.com/article.aspx?articleID=2445346

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

I would not be able to do my advocacy work without the generous support of Pathway Genomics. They recognize the importance of genetic testing, certified genetic counselor, and ihavelynchsyndrome.com’s mission — to save lives through education and raising awareness about Lynch and helping fill in the medical gaps for those who need it the most.

To learn more about Pathways Genomics High Risk Panel for BRCA mutations, please go here: https://www.pathway.com/hereditary-cancer-tests/#brcatrue

Yours,

Georgia M. Hurst

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com

 

Mayo Clinic Vist 2016

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Mayo Clinic Visit 2016.

I went to Mayo Clinic at the end of May for my annual screenings and many of you on Facebook and Twitter asked that I share my experience. Mayo Clinic in Rochester, Minnesota has doctors who know about Lynch syndrome – they know which screenings and tests are needed for specific mutations — I cannot recommend them enough. I am confident I am receiving the best care possible there and encourage others with Lynch to go there as well. You may have all your screenings and tests done within a matter of a few days by doctors who are well versed in Lynch syndrome protocols. Please note there are financial assistance programs available at Mayo for those in need.

My mutation is MLH1 and the following tests and consults were recommended for my particular mutation, my family medical history, and my personal needs: a blood test, urine test, mammogram, bone density scan, endoscopic ultrasound, colonoscopy, upper endoscopy, gynecological consult, an urogynecological consult, and a dermatological consult.

I met with my nurse Sheila Buhler. She and I went over my health for the past year. I complained of lethargy, nausea, and anxiety – all of which I attributed to my recent scanxiety. Sheila listens to me and doesn’t discount or minimize anything I tell her.

If you have had your ovaries removed and are feeling lethargic, I highly recommend going to the Women’s Clinic at Mayo. They completed a full assessment and blood test. Even though I am on a hormone replacement patch, Mayo found that my estrogen level is at a level comparable to someone not taking any estrogen. They increased my HRT dose and recommend I place the patch on my butt (over a muscle) instead of on my abdomen. I found this very disheartening and cannot imagine how many other women are in comparable positions suffering in silence simply because their hormone levels are not being properly assessed.  

Every since my hysterectomy and oophorectomy five years ago, I have noticed that my bladder is not emptying, or voiding, completely. I was seen by urogynecology and diagnosed with pelvic floor tension myalgia — physical therapy has been recommended to remedy this. I am pretty sure that I am not the only woman experiencing this and that is why I wanted to share. Please talk to your doctor if you feel you are having issues with your bladder after your hysterectomy and oophorectomy.

During my scopes, a small 2-mm gallbladder polyp was found along with a 7-mm gallbladder stone – neither were removed. Prior to my visit to Mayo, I had been suffering from a high level of anxiety and was nauseated for over a month. My endoscopy showed that I have Barrett’s esophagus. The high dose of aspirin I take on a daily basis, coupled with anxiety is probably partially responsible for this. It was recommended that I take omeprazole and Pepcid® for the next few weeks and that I learn to manage my stress better.

A pic of my colon...

A picture of my colon.

Usually it is recommended for those with Lynch to have a chromoendoscopy in order to detect the flat polyps, for which we are at risk. My scope revealed a small, flat colon polyp, which was removed and biopsied – thankfully it was detected and it was benign.

My gallbladder indicated a 2-mm mucosal polyp, as well as a 7-mm gallbladder stone. Those will continue to be monitored. My dermatologist removed a 5-mm mole from my central abdomen, which was also found to be benign. I also had my first bone density test (a very easy test, all you do is lie on a table for a few minutes) and found out some good news! I do not have evidence of osteopenia or osteoporosis at this time.

I was there for a total of four days – I had all my tests done within a short amount of time by doctors who know their stuff. My scanxiety is gone. Gone. Gone!

I am still a previvor at 45, no cancer. Frequent, meticulous screenings are absolutely imperative for those of us with Lynch syndrome and unfortunately only about 30% who know we have Lynch syndrome are being monitored properly. This saddens me tremendously because people are either developing cancer or dying unnecessarily from Lynch syndrome related cancers. 

Our next #Hcchat is coming up on June 29th at noon EST on Twitter! We are honored to have Dr. Vince DeVita as our special guest; he is an internationally recognized pioneer physician in the field of oncology. We will be discussing everything you need to know about the #Moonshot!

Gratitude to Pathway Genomics®! Thanks to them I was able to attend ASCO in Chicago soon after I returned from Mayo and had the pleasure of meeting some of their great staff and learned about recent advancements in oncology.

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Gary and me at ASCO16.

Immunotherapy was all the rage at ASCO. If you’re interested in learning more, Dana Farber has done a stellar job of putting all the major takeaways together from ASCO.

If you’re considering genetic testing, ask your genetic counselor or doctor about Pathway Genomics LynchSyndromeTrue. It is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes the deletion/duplication analysis for these four genes as well as the EPCAM gene. Please note, there’s only a two-to-three week turnaround time, both blood and saliva are accepted, Pathway Genomics has a patient-friendly billing policy, and they have options for larger gene panels if needed. Pathway Genomics is deemed accurate and reliable by the College of American Pathologist’s (CAP) Laboratory Accreditation program. CAP accreditation assures compliance with the most comprehensive laboratory standards to maintain accuracy of test results for patients. Find out more about  LynchSyndromeTrue.

And most importantly? Pathway Genomics is involved in the #FreeTheData movement which is going to become more crucial than ever with the Precision Medicine Initiative and Biden’s Moonshot. Learn more during our upcoming #Hcchat on #FreeTheData.

Yours,

Georgia M. Hurst
Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com

Living With Lynch Syndrome, One Year On…

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Kristen Lummis with her sons…

Living With Lynch Syndrome, One Year On. Guest Blog by Kristen Lummis

On May 29, 2015 I received a life changing phone call. It was from a physician sharing the results of a recent biopsy. “Mrs. Lummis,” he said in a too-soothing voice. “Are you okay to talk on the phone?” With those words, I learned I had cancer.

Family Matters

Early onset colorectal cancer is rife among my maternal relatives. Based on this history, I had my first colonoscopy at age 40. A few years later, a small town Colorado doctor pieced our stories together and suggested that my mother and aunt have genetic testing for Lynch syndrome, or, as it is sometimes known, Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Both my mother and my aunt declined to be tested. Neither of them had a personal history of colorectal cancer, so they assumed they dodged the mutation. So did the rest of us. And then my cousin’s son was diagnosed with colon cancer at 23. My cousin and her five children were tested. They are all positive for a Lynch mutation.

With Lynch syndrome confirmed in our family, I had a talk with my primary care doctor. To ease my concerns, she suggested biannual colonoscopies. Genetic counseling and testing were discussed, but ruled out unnecessary. Unfortunately, we focused on the CC in HNPCC and didn’t discuss any other Lynch syndrome cancers, including the high risk of endometrial cancer. This is one of the biggest problems Georgia deals with every day – people are not seeing certified genetic counselors who can help them assess their cancer risks and thoroughly understand their specific mutation. Certified genetic counselors can also let you know which surveillance measures are warranted to prevent, or at the very least, detect cancer at its earliest stages when it’s most treatable.

Head In The Sand

Looking back it’s easy to see where I went wrong. I grew with a mother who rightly feared cancer and unknowingly passed onto me a genetic mutation which became too much to bear. Therapy in my early 40s helped a lot, but it also predisposed me to ignore any but the most extreme medical symptoms. I didn’t want to live or to raise my two sons with fear. Rather than take charge and research Lynch syndrome, I put my head in the sand and assumed my body my body would let me know when something was wrong. And sure enough it did. In May 2015, I went to the doctor after two months of intermittent vaginal bleeding. While I assumed it was perimenopausal, it set off major alarms and I was rushed through the diagnostic process. Just 20 days later, I checked into the Mayo Clinic for a complete hysterectomy to remove endometrial cancer. While in Minnesota I also met with a genetic counselor and geneticist. A week later, I received a phone call from Rochester. It was THE geneticist and another “Mrs. Lummis” moment. And thus, I learned I had Lynch syndrome.

A Hard Diagnosis

That day, June 17, 2015, was pivotal. While I thought that a cancer diagnosis was hard to swallow, confirmation of a genetic mutation that can cause multiple cancers was even harder. Intellectually, I already knew my fate. Lynch was the best explanation for my atypical endometrial cancer. But until I heard the words, I had no idea how dramatically a Lynch syndrome diagnosis would rock my world. And while I’d never suggest that my experience is universal, I’ve learned a lot in 12 months, some of which I’d like to share.

Lessons From Lynch:

Get tested. If Lynch syndrome is in your family or you suspect it might be a factor, seek a referral to a genetic counselor ask your doctor for one or go to nsgc.org to find one near you. Don’t let your doctors talk you out of it. If you have a Lynch mutation, it’s better to know. If you don’t have a mutation, it’s better to know. Just because your parent hasn’t had cancer, doesn’t mean he or she does not have Lynch syndrome.

Lynch syndrome is more than colorectal cancer. While some doctors still refer to Lynch syndrome as HNPCC, be aware that the mutations can cause other cancers. An annual colonoscopy is not enough. A knowledgeable doctor will prescribe other screenings and talk to you about symptoms you should not ignore. The risk among some women with particular Lynch syndrome mutations is especially high for endometrial cancer and ovarian cancer. Any irregular bleeding should immediately send you to your doctor.

Seek out the best care. Find a physician who knows Lynch syndrome inside and out and keeps up with the latest research. This person will become your quarterback, directing your annual screenings and ensuring that the latest medical findings are applied to you. My cancer was treated at the Mayo Clinic and in August I will do my first round of annual screenings there. Another friend with Lynch syndrome is cared for at Stanford, while another is a patient at MD Anderson in Houston. Many of these fine medical institutions offer financial assistance for those in need.

Do some research. Find the best doctors. Check your insurance. Provide the best care you can for yourself. You and your family deserve it.

Reach out to Georgia if you need help with any of these things.

Give yourself a break. A Lynch diagnosis can be especially hard to take if you have children. Remember, if they eventually test positive it is not your fault. You didn’t give them this disease. They inherited it from you, as you did from your parent. There is no one to blame.

Control what you can control. While you can’t rid your cells of mutations, you can control what you put into your body, mind and soul. Take the best care of yourself that you can. Feed yourself wholesome, healthy foods. Focus on the current day. Surround yourself with supportive people. Build your body in strength and fitness.

Seek psychological counseling if necessary. I’ve struggled emotionally. I had an unexpected second surgery in early November, which totally knocked me down and by spring, I was a wreck. As the anniversary dates of both of my diagnoses drew near, I was paralyzed with unresolved grief, fear and anger. I turned to therapy and with the help of my caring counselor, who is also a cancer survivor; I’m allowing myself to grieve. Although it’s an overused word, this year has been truly been a journey. I’m hoping that as the earth makes its bend around the sun into my second year, the journey will look brighter and be a bit easier.

Kristen Lummis is a freelance snowsports and travel writer based in Western Colorado. In addition to writing for websites and magazines, she has an award-winning family skiing and outdoor adventure website, braveskimom.comShe and her fantastically supportive husband James have been married for 25 years. They have two nearly grown sons and one quite elderly, but still spirited, dog.

 

 

Scanxiety

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Scanxiety

I have found myself in darkness lately thanks to scanxiety. It rears its ugly head about a month before my annual scans. As a result, it tends to manifest itself in the forms of anxiety, insomnia, nausea, lethargy and depression. I’ve been waking up every single night now for the past two weeks at 3am thanks to nocturnal panic attacks. I also have loads of survivor guilt and am spending a lot of time of thinking of my brother Jimmy. He did not know about Lynch syndrome and didn’t stand a chance when he was diagnosed with stage IV colon cancer over twenty years ago – I’m supposed to deem myself the lucky one because I know I have Lynch syndrome and can take preemptive strikes. Unlike countless others, I’ve had genetic testing and certified genetic counseling and therefore understand my cancer risks and know I need to vigilant with my screenings. I’m way ahead of the game compared to many others but I still can’t help but feel this way. Many of us with Lynch syndrome deal with this; it’s not uncommon.

My mind is in overdrive, thinking of every possible horrible situation in regard to Lynch syndrome related cancers. I attribute this to the fact that as an advocate, I’m always communicating and trying to assist those dealing with cancers in spectacularly challenging situations — perhaps I know too much. Many of the people I talk with discover they have Lynch syndrome after they develop cancer. Many of them are having their colons removed, or are fighting for their lives due to advanced cancer stages. Most days, I am able to be an advocate and remove myself from the situation in order to help others but not so much during scanxiety time.

Would I be so anxious if I weren’t an advocate? I’m guessing probably not — at least not to this degree. Someone asked me the other day about my goals and what my “five year plan” was – I couldn’t help but laugh. Unfortunately at this present time I am unable to think of long-term goals. I live screening to screening – and during this time, I assume the absolute worst whilst hoping for the best. It’s not all the surprising considering my family medical history – one brother is dead, the other lost his colon at 48…I try my best to reassure myself that I’m ahead of the game but during scanxiety season, all logic escapes me and it becomes a matter of when – not if.

Ah yes, many will say not all cancers lead to a death sentence. This is very true. But honestly, I’m not interested in removing any other body parts, and chemo seems to be everything but appealing, and the potential long-term side effects leave very little to be desired. Immunotherapy is showing some promise for some of the Lynch syndrome related cancers so I do get some solace knowing this. I suppose it’s times like these I wish I had a sliver of faith – perhaps it would ameliorate some of my anxiety if I believed that God, Herself, had a master plan for my life – but I don’t.

It will all be over in two weeks — this too shall pass — can’t wait to come home, eventually to myself, when this is all over.


Dana Farber is hosting a Lynch syndrome conference…

  • LYNKED IN – Connecting and Empowering Lynch Syndrome Families

    LYNKED IN Lynch Syndrome conference banner

    LYNKED IN is a one-day, educational conference for individuals with Lynch syndrome, their families, and caregivers, hosted by Dana-Farber’s Center for Cancer Genetics and Prevention. This program will provide you with updates on:

    • Guidelines for screening and prevention
    • Strategies for communicating with your family
    • Advances in the treatment of Lynch syndrome

    This event’s full agenda shows the topics, times, and speakers for all the presentations.

    Saturday, June 11, 2016

    7:30 a.m. – 3:30 p.m.
    Dana-Farber Cancer Institute
    Third Floor Conference Center
    450 Brookline Avenue
    Boston, MA 02215

    Complimentary parking, light breakfast, and lunch will be provided for all registered attendees.

    Registration is appreciated by May 15. To register, visit lynkedin.eventbrite.com. Or email DFCIaskgenetics@dfci.harvard.edu for more information.


    Pathway Genomics is a global genetic testing company and has been kind enough to help support ihavelynchsyndrome.com’s advocacy efforts. It offers an array of hereditary cancer syndromes tests. You can submit a blood or a saliva sample for genetic testing,  get your test results back just within 2-3 weeks, and please note, they also have a patient friendly billing policy. Learn more about them at https://www.pathway.com/ or ask your doctor or certified genetic counselor about how Pathway’s LynchTrue test https://www.pathway.com/lynchsyndrometrue can help benefit you and your family.


    13131351_1020940097998631_6506328663821714410_o-2Yours,

    Georgia Hurst

    Founder and Executive Director of ihavelynchsyndrome.com

A Letter To Myself, Age 40

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A Letter To Myself, Age 40


A Letter To Myself, Age 40

You have just received devastating news – you have Lynch syndrome and the mutation you have significantly increases your risk for developing colorectal, uterine and ovarian cancer. To make matters worse, you discover your son has a 50/50 chance of having Lynch syndrome. You will be very upset when you receive this news, and you’ll wonder if you’ll make it through it – but you will.

Losing your mother at a young age will significantly influence your decision to take drastic measures to minimize your cancer risks. Leaving your young son motherless is your greatest fear. Removing your reproductive organs is highly recommended for your particular mutation. Life sans ovaries is going to be difficult – it’s going to change you in profound ways.

You will not feel well for quite some time and there will be times when you deeply regret removing your ovaries.  Your body will never be the same and you will become very depressed. No, it’s not all in your head – these issues are real and they’re terrible. Removing healthy body parts, which are crucial to your overall well being in order to prevent cancer, is a big deal. At times, the gravity of the situation is too much to bear and you have the wherewithal to recognize this — you seek will seek out additional professional support.

You will visit a number of doctors who do not know anything about Lynch syndrome or its screening protocols. You will become very frustrated and realize that it’s not your job to educate doctors about Lynch syndrome and surveillance measures. You will have the good fortune to find yourself at Mayo Clinic where you will be besieged by doctors who know more about Lynch syndrome than you do. Please know you will drown in anxiety before your annual tests and imagine every worse case possible scenario – you will find that you are also the most creative at this time – embrace it.

Two months after your ovaries are removed is when things begin to decline rapidly. You are plagued with debilitating nausea, vomiting, migraines, and sink into major depression. The hormone replacement therapy you are receiving is not enough. You cannot tolerate the unbearable feeling of wanting to peel your skin off. Please be patient and know that your persistence and tenacity with your doctors regarding your hormone replacement therapy will eventually pay off and things will normalize — you will eventually feel better.

Old, emotional, familial wounds which you thought were buried will resurface and your older brother’s death will take on an entirely new significance in your life; you will develop immeasurable survivor guilt. You will be abandoned by many of your closest friends and family – they will not have the strength to deal with you. The myriad of losses, heartache, and lack of reconciliation for having Lynch syndrome will force you to write incessantly for the next few years. You will be surprised by the friends who do stay by your side — they will provide with a greater, deeper perspective. They will teach you the true meaning of friendship while leading you down greener paths where you will find love from various life forms.

Writing will eventually become your catharsis and will open doors you never knew even existed. You will write about things others fear to mention. Don’t listen to those who minimize your loss and criticize you for being so candid about your experience. It will be difficult, but their criticism will inspire you and fuel your efforts to highlight these issues.

You will develop a voice that you don’t know you have and you will help countless of others who are going through the same thing.

You can do it and you will.

Do not give up hope.

One day, you will read Susan Gubar’s book: Memoir of a Debulked Woman and it will provide you with immeasurable clarity and help you reconcile your situation and diagnosis. You will also read extensively about other hereditary cancer syndromes and recognize the parallels between them. You will find new friends some with Lynch, and some with other hereditary cancer syndromes – they will all understand what you’re going through. Some of them will become your closest friends. You will find yourself deep in the Lynch syndrome advocacy waters – you will learn more about the various issues surrounding genetic testing and hereditary cancer syndromes.

You will make a concerted effort to help fill in the gaps for those who fall through the cracks.

Five years later, you will look back and recognize that all of the difficulties weren’t for naught.

Your son will still have his mother and you will be cancer free.

You will learn the value of meticulous annual screenings and realize that if cancer is found, it will be caught early and treatment will hopefully be minimized. You see promise in advances such as immunotherapy — you will no longer fear Lynch syndrome like you once did.

…to be continued.

Georgia Hurst                                                                                                                                                                                                                                                                     Founder and Executive Director of The Nonprofit: ihavelynchsyndrome.com

 

#Hcchat: Should We Test Minors for Hereditary Cancer Syndromes?

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#Hcchat: What About The Kids? Should We Test Minors For Hereditary Cancer Syndromes?

I’m honored to announce that Pathway Genomics is sponsoring #Hcchat on Monday. Much gratitude to them for also supporting ihavelynchsyndrome.com’s advocacy efforts. #Hcchat will be focusing on a controversial topic: Should We Test Minor Children for Hereditary Cancer Syndromes? I can assure you this #Hcchat will be very informative and thought provoking. If you’re interested in #Hcchat, you may also, want to know it’s important offshoot: #Hcchat (Hereditary cancer chat) News. It’s a monthly newsletter and a fantastic collaboration effort by all top the hereditary cancer syndrome patient advocates to bring you all the latest news, blogs, books, and much more on various hereditary cancer syndromes. Please find the link here: https://goo.gl/jt9NY7

Some interesting articles in the medical news lately and the most important one this past month has to do with Lynch syndrome screening. “In a recent study, few patients whose families met clinical criteria for hereditary non-polyposis colorectal cancer (Lynch syndrome) had undergone genetic testing, and only a small percentage of their doctors had given them appropriate screening recommendations.” This is a huge problem and why I cannot emphasize the importance of certified genetic counselors enough. A certified genetic counselor will let you know which mutation you have and which screening measures are needed for your particular mutation. They should also be able to assist you in find doctors who are well-versed in Lynch syndrome. Frequent, meticulous screenings are crucial for cancer prevention or at the very least, catching cancers early in those with Lynch syndrome when they are most treatable. Please go here to find a certified genetic counselor -> nsgc.org or contact me and I will help you find one. http://goo.gl/Y8WQlZ

Another interesting study came out about women with BRCA and osteoporosis …”Despite that carriers of BRCA mutations who undergo prophylactic oophorectomy are at risk for bone loss, these women are underscreened for bone mineral density, according to study results presented at the Society of Gynecologic Oncology Annual Meeting on Women’s Cancer. However, the use of hormone-replacement therapy lowered the risk for significant bone loss osteoporosis, results showed.” It is therefore recommended that those with undergo this prophylactic surgery to discuss bone density tests with their doctor and to consider having the test every two years for bone evaluation. I think it’s pretty safe to say that women with Lynch who undergo the prophylactic oophorectomy should consider discussing this issue with their doctor, too. For more: http://goo.gl/Yfxud5

Have you read the recent research regarding staying out of the sun? According to a recent study published March 21st in the Journal of Internal Medicine, you may want to consider spending a little more time in the sun. Contrary to popular belief, avoiding the sun like the plague is not a health benefit. Researchers studied nearly 30,000 Swedish women and found that nonsmokers who stayed out of the sun had a similar life expectancy to smokers who basked in the sun.  Sunbathers not only lived longer but if they did develop cancer, they fought it better than those who avoided the sun. Please click here to read the article: http://www.medscape.com/viewarticle/860805

I love apps — especially those, which are helpful in improving my behaviors, which contribute to my good health. I think those of us with hereditary cancer syndromes need to be more mindful about living the healthiest life possible. With that said, IBM and Pathway Genomics have teamed up to create an exciting and progressive wellness app to take precision medicine to an entirely new level with the Pathway Genomics OME app. It utilizes information from Pathways “FIT” Test, a test which analyzes over 75 genetic markers known to impact metabolism, exercise, and energy consumption use within the human body. It provides information to doctors and their patients in order to help them understand how genetics and lifestyle may impact their diet, nutrition, and exercise. Essentially, this app can be a highly useful tool by encouraging people to make positive changes to their health by giving them personalized insight in order to lead a healthier lives. As always, please talk to your doctor before making any major lifestyle changes with diet, or starting a new exercise program. https://www.pathway.com/pathway-fit/.

To learn more about their array of hereditary cancer tests, please go to  https://www.pathway.com/hereditary-cancer-tests/.


Those of you in or near Ohio with Lynch syndrome and Hereditary Breast and Ovarian Cancer syndromes … please save the following date!

April 30, 2016, Conference on Hereditary Breast and Ovarian Cancer) and Lynch syndrome

OSUWexMedCtr

“Our fourth Beyond Risk conference for individuals with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome (LS) will be held this spring! This is an event designed specifically for people affected by these conditions and their families.  We will provide information and management updates promote early cancer detection and cancer risk-reduction.  We also hope to have time for you to make connections with others so you can meet other families share your stories, and support one another. Give my best to Heather Hampel my best and tell her G sent you!

Date:    April 30, 2016

Time:    10am – 2:00 pm (Lunch will be provided)

Location: The Fawcett Center, 2400 Olentangy River Rd., Columbus, OH 43210

Directions: http://www.fawcettcenter.com/page/directions

Check your mailboxes in the next few weeks for a registration brochure or contact us at genetics.clinic@osumc.edu for more information.”

https://internalmedicine.osu.edu/genetics/patient-care/clinical-cancer-genetics


Yours,

Please be sure to join us on Twitter on Monday, April 25th at noon EST for #Hcchat.

Yours,

Georgia Hurst, MA

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com (501c3)

 

 

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day 2016

Lynch Syndrome Awareness Day is March 22nd and during Colon Awareness Month, it is important to note that 5% of all colorectal cancers are due to Lynch syndrome. Unfortunately, Lynch syndrome may hold implications for various cancers, dependent upon which mutation you hold. Lynch syndrome is an inherited cancer susceptibility syndrome caused by mutations in one of five DNA mismatch repair (MMR) genes. It is passed down in families in a pattern called autosomal dominant, meaning that each child has a 50% chance to inherit the mutation from a parent. Both men and women can have Lynch syndrome and can pass it on to their sons and daughters. Of the estimated 1 million Lynch carriers in the United States, only 5% know they carry a mutation. Mutation carriers have a substantially increased risk of cancers of the colon, rectum, and endometrium, which generally occur at younger ages than in the general population. Lynch syndrome also increases the risk of cancer of: the stomach, intestine, liver, pancreas, gallbladder ducts, upper urinary tract, brain, skin, and if you’re male, the prostate. Women with Lynch syndrome are also increased risk of developing cancer of the ovary, and the breast.

If your family medical history includes:

  • three or more relatives with cancer, specifically colorectal cancer, or cancer of the endometrium, small intestine, ureter or renal pelvis;
  • two or more successive generations have been affected;
  • one or more relatives diagnosed before the 50 years old;
  • one should be a first-degree relative (parent, sibling, or child) then please talk to you doctor and ask for a referral to a certified genetic counselor to access your risk.

Or, please go to The National Society of Genetic Counselors website at nsgc.org to find a certified genetic counselor near you or please feel free to contact me and I will help you find one. Please help me spread the word by sharing this post.


Recently, the Madding family made headline news when they lost Isabella, their THIRD child, to #CMMRD on February 6, 2016. There is a lot of misinformation circulating about this particular syndrome on the Internet. Ellen Matloff, MS, CGC, President and CEO of My Gene Counsel interviewed Erin Madding recently to set the record straight.

According to Ellen Matloff, MS, CGC, President and CEO of My Gene Counsel, “Lynch syndrome is an autosomal dominant condition. This means that a person who carries one copy of a mutation in any of the 5 genes known to cause Lynch syndrome is at increased risk to develop multiple adult-onset cancers, especially those of the colon, uterus and ovaries. A person who carries two mutations in the same gene of any of the genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2) has a completely different syndrome called Constitutional Mismatch Repair Deficiency (CMMRD). This usually occurs when that person inherits one mutation from the father and the other from the mother. This rare condition is associated with a high risk of early-onset cancers, including childhood onset cancers of the brain and blood. Café-au-lait spots (flat, light brown birthmark-like marks on the skin), are also common.”

You can read Ellen’s interview with Erin Madding in its entirety here: http://www.mygenecounsel.com/blog-recent-posts/2016/2/29/family-loses-3-children-in-6-years-to-hereditary-cancer-syndrome-cmmr-d-getting-the-facts-straight

When I initially began writing about Lynch syndrome, I had no idea about the various issues surrounding hereditary cancer, especially “B-R-C-A.” As I began learning more about various hereditary cancers and talking with other patients, doctors, and genetic counselors, I have discovered there are serious implications behind utilizing particular genetic companies for gene tests, specifically those testing for BRCA mutations. It is important for patients, doctors, and certified genetic counselors to choose genetic testing companies which free genetic information in order to further advancements in hereditary cancer research. Please go here for more information: http://www.free-the-data.org/.

Pathway Genomics is an ethically based genetic testing lab and proudly participates in the #FreeTheData movement. Pathway Founder and CEO Jim Plante had a strong, personal motivation for starting Pathway. He and several members of his family suffer from polycystic kidney disease and his father also died of cancer. After going through a complex and expensive process to find out if he also affected, he decided to start Pathway to provide easy, accessible, and affordable testing for genetic health risks. With that said, I am honored and humbled to announce that Pathway Genomics has decided to support ihavelynchsyndrome.com’s advocacy efforts.

“Ihavelynchsyndrome.com is tireless in its efforts to raise awareness about Lynch syndrome and Georgia’s selfless dedication is an inspiration. We share a passion for educating and empowering people to be proactive about their health, so we are happy to offer our support,” said Jim Plante.

To learn more about Pathway, please go here: https://www.pathway.com.

Please note, we will be holding another #Hcchat in April: When is the Genetic Testing of Children for Hereditary Cancer Warranted?

Details to follow shortly.

Yours,

Georgia

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