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

Lynch syndrome, Cancer Memoirs, and #Hcchat

Lynch syndrome

Lynch syndrome

“I have Lynch syndrome…now what?”

I receive countless calls a week from people who have just been diagnosed with Lynch syndrome. Many of them have doctors who fail to refer their patients to a certified genetic counselor and this is an enormous problem. Physicians must refer patients to a certified genetic counselor if they suspect or discover a patient is at risk. All too often, patients leave their doctor’s office with their positive genetic test results feeling confused, distraught, and fearful.

I see this every single day.

If you have recently been diagnosed or have Lynch but have not seen a certified genetic counselor, then please go here to find one near you: www.nsgc.org/ or reach out to me and I will help you. Knowledge is only power for those with a hereditary cancer syndrome when people fully understand their genetic test results and have access to the resources, and proper screening measures that actually will help them maintain their health – this is why is it so important for doctors to refer their patients to a certified genetic counselor.

For some, seeing a certified genetic counselor in person is not possible – please know there are alternatives like http://www.informedDNA.com where you can talk to one by phone.

There are important reasons why you should seek out a certified genetic counselor. They will help you assess your risk – they will explain your genetic tests results in laymen’s term. More importantly for women with Lynch syndrome, not all Lynch syndrome mutations are the same – for certain mutations, it is recommended that a women consider a hysterectomy and oophorectomy, but not for all of them. Screening measures vary for each mutation – it’s not one size fits all. Your genetic counselor should provide you with referrals to doctors who specialize in Lynch syndrome and are well versed in screening protocols. You cannot be your own best advocate for Lynch syndrome without getting all the facts from a certified genetic counselor.

Ask them about places such as Mayo Clinic in Rochester, Minnesota or MD Anderson where doctors know Lynch and you can have all your screening done within a matter of a days. Places likes these have financial assistance programs for those in need – please check out their websites for more information.

For those of you who have just been diagnosed and do not have cancer – the good news is that many of you are way ahead of the game if you have seen a certified genetic counselor and truly understand your risk. Yes, you are at a higher risk of developing colon cancer than the general population but the upside of knowing you have Lynch syndrome with genetic testing confirmation is being able to have a frequent colonoscopies – colon cancer doesn’t usually develop overnight, it begins with a colon polyp and with time, that becomes cancerous. If your doctor truly knows about Lynch syndrome, they should know about the flat polyps, blue dyes, and the special cameras used to detect colon polyps in those with Lynch – if these polyps are found during your colonoscopy, your doctor will snip them out. In my opinion, if you have Lynch syndrome and are vigilant with your colonoscopies, and health, your chances of developing colon cancer are far less than that of the general population.

If you consider the prophylactic surgeries recommended for your particular mutation, and are vigilant with your screenings and tests, chances are you will be okay. If cancer does develop, it will be caught early and hopefully your treatment will be minimized.

Having a colonoscopy is not enough – Lynch syndrome can influence various cancers. Your genetic counselor should tell you what tests and scopes you should be having on a frequent basis. If you tested positive for Lynch  years ago, it’s not too late to see certified genetic counselor to ensure you’re executing your knowledge properly.

Aside from this, you must take personal responsibility for your health. Having a genetic mutation for a hereditary cancer syndrome does not give you a license to not take care of yourself – if anything, you have to be more vigilant. Set an example for your family. Lose the excess weight, eat well, minimize your consumption of animal product and processed foods, exercise, don’t smoke, don’t use toxic cleaning products in your home, go easy on the alcohol, talk to your doctor about taking aspirin therapy, take probiotics, and consider practicing mediation. You don’t have to be a Buddhist to meditate – the research on meditation shows that it may diminish inflammation and other biological stresses that occur at the molecular level.

February 2016

February 2016

Ellen, Amy, and I held #Hcchat on February 18th with Dr. Stephanie Goff from the NIH. We managed to reached over 5 million people on Twitter whist discussing immunotherapy and Lynch syndrome related cancers.

Please go here to read the transcript: https://storify.com/Hc_chat/hcchat-transcript


On a side note, I had read quite a few cancer memoirs lately and these are three books I’d like to bring to your attention…

When Breath Become Air by Paul Kalanithi: A neurosurgeon in his 30’s is diagnosed with terminal lung cancer. This is a beautifully written memoir about a doctor who is forced to evolve into a patient. http://www.amazon.com/When-Breath-Becomes-Paul-Kalanithi/dp/081298840X/ref=sr_1_1?ie=UTF8&qid=1456432774&sr=8-1&keywords=when+breath+becomes+air

Cancer Was Not A Gift & Didn’t Make Me A Better Person by Nancy Stordahl: Nancy is nothing but candid about her breast cancer experience due to BRCA2. She does a stellar job of expressing her range of raw and difficult emotions as she struggles with the loss of her breasts and then ovaries. She raises interesting, valid points regarding societal views of femininity, fertility, and cancer language. Most importantly, she discusses how removing breasts and ovaries may have a profound, long-term, negative impact; not only on woman’s quality of life, but also on a woman’s mind. http://www.amazon.com/Cancer-Gift-Didnt-Better-Person/dp/1517070228

A Kick-Ass Fairy by Linda Zercoe: An incredible story about a woman who deals with multiple cancers due to Li Fraumeni syndrome, a rare hereditary cancer syndrome. So many parts of Zercoe’s book resonated with me and my experience as a Lynch syndrome previvor. http://www.amazon.com/Kick-Ass-Fairy-Memoir-Linda-Zercoe/dp/0989581543/ref=sr_1_1?s=books&ie=UTF8&qid=1456432917&sr=1-1&keywords=a+kick-ass+fairy


March is Colon Cancer Awareness Month —  and about 5% of all colorectal cases are due to Lynch syndrome.

Please consider making a donation to ihavelynchsyndrome.com to support its advocacy efforts. Please click on the “Donate” button on the upper left.

Yours,

Georgia M. Hurst

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.com


Resources:

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

http://jco.ascopubs.org/content/early/2015/08/11/JCO.2014.58.9952.abstract

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomized controlled trial

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243929/

World Health Organization Says Processed Meat Causes Cancer

http://www.cancer.org/cancer/news/news/world-health-organization-says-processed-meat-causes-cancer

Obesity-Cancer Connection

https://hms.harvard.edu/news/obesity-cancer-connection

Everyday Exposure to Toxic Pollutants

http://www.scientificamerican.com/article/everyday-exposure-to-toxic-pollutan/

Probiotics and Immunity

http://link.springer.com/article/10.1007/s00535-008-2296-0

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February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

Do you have Lynch syndrome or a Lynch syndrome related cancer? Then you most definitely do not want to miss this #Hcchat on Twitter. We will be discussing immunotherapy and Lynch cancers with Stephanie Goff, MD,  from the NIH.

February 2016

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

If you are unable to participate then please note that you may access the transcript on February 19th here: https://storify.com/Hc_chat/hcchat-transcript

Twitter: https://twitter.com/Hc_chat?lang=en or on and 

Facebook: https://www.facebook.com/Hcchat-Hereditary-Cancer-Chat-870388953054442/?fref=ts.

Ever since Angelina Jolie was tested for ‘B-R-C-A’, the number of people seeking out genetic testing has skyrocketed. Some genetic testing companies are encouraging doctors to administer genetic tests without using a certified genetic counselor and this is highly problematic — especially since there is a low literacy rate of genomic understanding amongst doctors. Only 5% of primary care physicians feel confident in interpreting genetic test results and only 4% feel prepared to counsel patients who are considering undergoing genetic testing;

(http://(http://www.ncbi.nlm.nih.gov/pubmed/18496223

http://www.ncbi.nlm.nih.gov/pubmed/22278335).

If your doctor suspects that you have a hereditary cancer syndrome and wants you to undergo genetic testing then please do yourself a huge favor and ask your doctor for a referral to a genetic counselor; or, go to the National Society of Genetic Counselors website at nsgc.org to find one. A consult with a certified genetic counselor will help reduce the risk that your testing will be ordered or interpreted incorrectly, and will increase the chance that you’ll understand your options.  If you cannot travel to meet with one, then please contact informedDNA.com for a phone consult. Please feel free to reach out to me if you’re having difficulty finding one — I am more than happy to help you: http://www.ihavelynchsyndrome.com/contactgeorgia.

Also, please note that you can search topics from previous blogs on this website using the search bar on the upper right side near the social media icons. Hope you’re all well and able to join us on Twitter for #Hcchat on the 18th.

Yours,

g

#GivingTuesday #Lynchsyndrome

#‎GivingTuesday‬ ‪#‎LynchSyndrome‬

“Three days after my 47th birthday, I found what felt like a heel in my lower right abdomen. After a panel of tests, I received the news that my carcinoembryonic antigen (CEA) level was 38 – ten times the normal value; the most likely diagnosis was colon cancer. A colonoscopy confirmed the results. I had a 6cM tumor growing in my ascending colon and one enlarged lymph node. Hearing the words, “You have Stage III cancer.” is a moment captured forever. Genetic testing showed that I had a mutation in MSH2, confirming that I had Lynch syndrome.
Shortly after my diagnosis, I found Georgia Hurst (AKA @shewithlynch) on Twitter, Facebook and online (http://www.ihavelynchsyndrome.com/). Through her non-profit organization, Georgia advocates for genetic testing of Lynch syndrome and other hereditary cancers. She co-hosts twitter chats (‪#‎Hcchat‬) with Amy Byer Shainman (The BRCA Responder) and Ellen Matloff, MS, CGC the President and CEO of My Gene Counsel that address specific topics in hereditary cancers.
These highly interactive chats featuring clinicians and researchers reach millions of people. #GivingTuesday is a time to reflect on who has changed the world. In the Lynch Community, that person is Georgia. She brings you the latest discoveries, newest clinical trials and state of the art knowledge so that all of us are better informed and know how to take charge of our care and treatment. Please consider making a donation so that fewer of us need Georgia in 10 years.”
– Amy Lossie

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