The Beacon of Light and Hope for those with Lynch syndrome…


The Beacon of Light and Hope: Marika

The Beacon of Light and Hope for those with Lynch syndrome….

The best part of being an advocate for those with hereditary cancer syndromes is having the privilege of getting to know some extraordinary souls. Last January, I received an email from a gentleman named Marco who had recently been diagnosed with Lynch syndrome; his mother Marika was suffering from kidney cancer – this was her third bout with cancer due to Lynch syndrome. Marika inherited Lynch syndrome from her mother who also had multiple Lynch syndrome related cancers. Marika’s mother managed to live until the ripe age of 90 until pancreatic cancer took its toll.

Marika has had an exceptionally challenging and fascinating life history. She was only 5 years old when World War II was raging in Europe; she lost her father when she was 8 years old, managed to survive starvation, and eventually moved to Italy with her mother to flee war-torn Hungary. At the age of 18, Marika appeared in a movie with Sophia Loren and was supposed to be in other movies until polio put the kybosh on her acting career. As a result of contracting polio, she lost much of her ability to use her legs — she must use a cane. Marika moved to the U.S. when she was 22, where she worked, married, and raised two children. Marika developed uterine cancer at the age of 51 and that was treated with a total hysterectomy. Then at the age of 65, she was diagnosed with cancer of the left kidney — that kidney was removed. A few years later, her husband of 44 years died from pulmonary fibrosis. A few years after that, Marika was diagnosed with cancer again — this time the cancer took up residence in her right kidney.  The chemotherapy she took failed her and she was told that her days were numbered.

Fortunately, her local oncologist knew of a clinical trial being offered in Sarasota, which she is currently on. She began the immunotherapy clinical trial months ago and has experienced significant tumor shrinkage; she saw a 50% shrinkage in just three months and is still experiencing shrinkage. The doctor has been overwhelmed with the positive results – her fate is currently unknown but with the tumors shrinking her life has been extended. Aside from a small rash, which was treated with hydrocortisone, this particular immunotherapy has held very few side effects for her. She feels better now than she has in years.

Other than her current affliction with cancer, and the lasting results of having had polio, Marika is in great shape at 80. She eats and lives healthfully and — even in her current state – she still conjures the inner strength to regularly swim and do yoga, as she has done so for decades. She abstains from consuming red meat or processed meat but does eat poultry, veggies, and grains.  While these epigenetic factors may not have prevented any of her cancers, they may have been responsible for the delay of their onset. Marika is very astute and spends her time reading, listening to classical music, and is highly interested in politics, and world affairs. She maintains a pretty busy social calendar with her friends – they are a tremendous source of joy and laughter in her life. Marika does not practice any religion.

Her biggest challenge with having Lynch syndrome is knowing that her son holds the mutation, her daughter fortunately tested negative. Lynch syndrome is autosomal dominant which mean that each child of a carrier has a 50/50 chance of inheriting the mutation. Marco has luckily never had cancer and has been of tremendous support to his mother. He moved back in with her a couple of years ago to help care for her and I believe Marco has been quite instrumental in her well-being; he’s a sharp, articulate, funny man who is highly involved in his mother’s medical decisions. He adds much-needed levity into her daily life. We should all be so lucky to have doting, selfless children in our later years.

Living with Lynch syndrome and its cancers is difficult. I check in with Marika frequently to see how she’s fairing; I recently asked her how she manages to keep her head above the water with all that has happened to her … “Discipline and willpower,” she says with great confidence. I believe her immeasurable resilience, to her cancers and issues, stems from her early challenges: struggles during and after the war, losing her father, and her lifelong struggle with polio. Marika is a remarkable force — she is adaptable and immeasurably resilient.

Her advice to other patients in her charming Hungarian accent: “Live every day, have hope, don’t dwell the negative … you can sit and stare at the walls and feel sorry for yourself, or go out and live.”

Thank you, Marika for taking the time to talk to me and sharing your story with the Lynch community. You are truly a ray of sunshine on the Lynch syndrome horizon – you give me tremendous perspective. I hope your story gives others hope and perspective, too.

Ellen, Amy and I recently had our #Hcchat in October with Tim Rebbeck, PhD from Harvard, regarding all the latest news for those with BRCA. Please click here to read the transcript:

And finally, if you’re in Chicago in December and have a hereditary colon cancer syndrome, you may want to mark your calendar for this event:


Hope you’re all well and enjoying the fall.



Founder and Executive Director of the Nonprofit:


From Awareness to Action: A Petition Calling on Myriad Genetics …

1From Awareness to Action: A Petition Calling on Myriad Genetics to Free the Data by KJ Surkan, PhD

It’s October again – Breast Cancer Awareness Month – and in 2015 I have to wonder, what exactly does that mean? Is there really anyone left in this country who has not been touched by this disease, who still needs to be made aware of it? The White House went pink on Friday to honor the 1 in 8 women in the U.S. who will develop breast cancer. That is an astounding number of people, and one that does not seem to be diminishing as time goes on. I think it is time to move from awareness to action, and that is why I’ve launched a petition this week ( calling for Myriad Genetics to share the BRCA data it has been hoarding for the past 11 years.

BRCA Patents and the Price of Genetic Tests

Perhaps some people still are not aware that Myriad Genetics patented the BRCA1 and BRCA2 genes, and made these patents central to its business model by effectively ensuring that it had a monopoly on all BRCA testing from 1994-2013. This monopoly came to an end in the U.S. when the Supreme Court invalidated its patents in Association for Molecular Pathology vs. Myriad Genetics. During the period in which it had no competition, Myriad set the price of genetic testing for BRCA mutations, making it inaccessible to most who were uninsured and those whose insurance companies refused to pay for the test. The company is now publicly traded and reported a gross profit of $575.7 million in the 2015 fiscal year.

They also controlled further testing on these genes, including the detection of large rearrangements and deletions in both genes, delaying the introduction of rearrangement testing by several years. This directly and negatively affected the health of low-income women who unknowingly carried a genetic risk of up to 87% of contracting breast cancer, and up to 40% of ovarian cancer in their lifetimes. With the subsequent emergence of competing testing companies (and newer technology), the cost of BRCA testing has dropped dramatically.  Tests are now on the market for $199 (Veritas) and $249 (Color Genomics).

Data Hoarding for Profit

Many people believed that the free market would solve the negative health outcomes of Myriad’s price-fixing once the patents were invalidated and other companies could compete, and this has largely turned out to be true. But Myriad anticipated the end of their monopoly, reasoning that in any case their patent would expire in 20 years (1994-2014 for BRCA1). So the company did something preemptively in 2004 to keep its genetic test competitive as other testing companies entered the market: Myriad decided to stop sharing BRCA genetic data with clinicians and researchers.

By so doing, Myriad has extended its monopoly in a new way, with serious consequences for understanding and even arriving at a clinical interpretation of BRCA variants. Based in large part on more than a million tests it conducted during its US patent monopoly 1998-2013, Myriad has amassed an enormous amount of genetic data. However, in 2004, Myriad stopped sharing its data, and its last major publication extended only through 2006.  Myriad continues to refuse to share data about BRCA variants with open clinical and research databases, ignoring pleas by oncologists, genetic counselors, public health officials, and consumers to contribute to the ongoing research.

In August 2014, Karen Iris Tucker reported on the data-sharing problem for, explaining that to make accurate risk determinations for people testing positive for BRCA variants of unknown significance (VUS), vast amounts of data are needed. In her article, Tucker quotes Judy Garber, director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute, who says of Myriad, “This is not the way that most genetics work has taken place and the fact that they have data on these variants that are hard to interpret that they have not shared has generally been really disturbing to the medical community.” (

Data about genetic mutations should not be ‘“trade secrets.” Myriad Genetics has built its business model around data hoarding, aiming to force consumers into using it over other genetic testing companies because they claim their tests are superior in discerning which variants confer risk. Oncologists often feel obligated to order tests for their high-risk patients from Myriad for that reason.

Genetic Testing, Precision Medicine, and the Future

Aside from impacting the fraction of the U.S. population that actually carries a BRCA mutation (myself included), why should we care about Myriad’s data hoarding and genetic testing business model? To answer that we need to turn to precision medicine, and think about what genetic testing will mean for health care in our future.

So let’s talk genetics. A small but significant percentage (5-10%) of breast and ovarian cancers are thought to be hereditary. As oncologists are fond of saying, “all cancer is genetic, but only some cancers are hereditary.” Yet it is through studying the genetics of hereditary cancer that we are making progress in understanding key elements of this disease, and beginning to identify new treatments like PARP inhibitors that exploit mutations in tumor cells, whether somatic or germline. What this means in plain English for breast and ovarian cancer patients is that drugs developed specifically for BRCA+ patients may also help those who are BRCA negative if their tumor has a BRCA mutation, or has what is called “BRCAness,” a biological condition of tumors resembling BRCA1 or BRCA2 deficiency.

These kinds of breakthroughs are the basis of what is now being called “precision medicine,” in which we are moving away from a “one size fits all” model of treatment to a model of targeted therapies. Here is the point – genetic testing is going to play a critical role in this new way of diagnosing and treating cancer, and that is why we have to get this right. We cannot allow greedy corporate entities to put profits before people with the aim of increasing their market share above all else.

To arrive at answers quickly, we need to harness the power of big data, enabling us to discover correlations between genetics and patient outcomes. As more links between genetic mutations and diseases are discovered (and particularly in cases of rare diseases, where the overall number of cases is fewer), data sharing will be critical in establishing accurate assessments of risk and causality. We can’t let a company set this kind of precedent, putting profit before the advancement of knowledge about the relationship between genetic mutation and life-threatening disease.

Please sign and share this petition at to send that message loud and clear.

Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.

– Margaret Mead

Gratitude to KJ Surkan for sharing this vital information.

Please mark you calendars. Our next #Hcchat is coming up.

#Hcchat with Tim Rebbeck, PhD.

#Hcchat with Tim Rebbeck, PhD.

Dr. Henry T. Lynch Symposium: Advances in Hereditary Cancer — Summary by G


Dr. Henry T. Lynch Symposium: Advances in Hereditary Cancer

The Henry T. Lynch Symposium: Advances in Hereditary Cancer took place last week in Omaha – it was highly informative and moving. The outpour of love and admiration for Dr. Lynch and his work was overwhelming. This post is basically a summary of the most important take-aways from the conference. These comments were extracted from the talks which were presented — the presenter’s name can be found in parentheses.

  • Lynch syndrome registries increase the quality of care for Lynch syndrome patients (Vasen).
  • Those with mutations MSH6 and PMS2 have lower rates of colorectal cancer and endometrial cancer in comparison to those with the other Lynch mutations (Vasen).
  • For those with MSH6, the risk for other cancers is lower in comparison to other mutations (Vasen).
  • Psychological and emotional issues regarding a Lynch syndrome diagnosis still exist today; however, improved screening measures and confirmation and clarity of risk some of the uncertainty have been reduced (Snyder). G’s note: I disagree, I think this is dependent upon whether or not people have access to genetic counseling and what their family history with cancer looks like. Socioeconomic disparities are all too common and are very problematic for many — not everyone has access to doctors who are well-versed in Lynch screening.
  • There is federal protection for those with hereditary cancer syndromes for health insurance and employment discrimination; however, this is not applicable for those seek life insurance or long term disability insurance (Snyder). G’s note:  Please go here for more info:
  • As more people are being tested, more people are being testing with VUS’s -> variance of unsignificance (Snyder). G’s notes: This can be very problematic and stressful and this is why I encourage people to seek out genetic counselingIf you live in a rural area, genetic testing companies such as Informed DNA can provide you with phone consults; please go to for more information.
  • There will be about 132,70000 new cases of colorectal cancer in the U.S. in 2015; about 4,000 of them will be the result of Lynch syndrome (Hampel).
  • A website to check out: Mission: To promote universal Lynch Syndrome screening on all newly diagnosed colorectal and endometrial cancers (Hampel).
  • There are challenges within families for getting them to get genetically tested – lack of communication, not everyone lives in the area, no follow-up to determine whether or not people pursued genetic counseling or testing (Hampel).
  • Hampel attended a family reunion in 2014 for a family with Lynch syndrome and was able to test 20 at-risk relatives (Hampel). G’s note’s: this was a stellar “thinking outside of the box approach” for the genetic testing of families. 
  • A prophylactic colectomy at age 25 for those with Lynch syndrome offers a survival rate benefit of 1.8 years compared to having frequent colonoscopies. The special circumstances for this procedure is recommended for include: difficult colonoscopy, poor compliance — meaning the patient will not be vigilant with getting their screenings,  a high psychological fear of cancer, and a high occurrence rate of early onset cancer within one’s family (Church). G’s note: you’re better off getting an annual colonoscopy instead of removing your colon. The quality of your life may change significantly, losing your colon can make you incontinent, hold implications for your sex drive, and many people complain of chronic pain. You want to consider keeping your healthy colon for as long as possible.
  • Colonoscopy for those with Lynch syndrome should be between the ages of 20-25 or 2-5 years prior to earliest case of colorectal cancer; should be repeated every 1-2 years (Lanspa). G’s note: there is tremendous disagreement about the frequency of colonscopy for those with Lynch syndrome, Mayo recommends annual scopes.
  • Endoscopes and colonscopes have improved in order to detect polyps; chromoscopes (scopes with dye) are far more successful for detecting polyps than regular scopes. (Lanspa). G’s note: Please be sure your doctor(s) are using chromocolonoscopy and chromoendoscopy for your scopes! The dyes used for these scopes seem are more promising.  There is still no established surveillance technique, which is a big problem.
  • Asprin is highly effective in the prevention colon polyp formation: 600 mg/day for 2 years reduced Lynch syndrome cancers at 5 years by over 50% (Burn).
  • Obesity increases your chances of developing colon cancer (Burn).
  • Asprin prevents cancer and according to Sir John Burn, taking aspirin is as safe as having a regular colonscopy; start with a low dose of aspirin and see how well you tolerate it – then work your way up. Your chances of fatality due to taking a high dose of aspirin increase dramatically after age 70 (Burn). G’s note: Please talk to your doctor first!
  • Olopage gave the most interesting, enlightened talk of the conference and discussed how the “one size fits approach” to genetics is inappropriate — sound familiar? We need to reach poor women, African-Americans, Hispanics, and Latinas as they are more likely to die from cancer in comparison to other populations (Olopage).

There was not much talk on other preventative measures such as diet, exercise, stress reduction and I believe it would have been wonderful to have a psychologist who is seasoned in dealing with those with hereditary cancer syndromes — many doctors simply don’t understand the emotional gravity of what it’s like for patients to have a hereditary cancer syndrome.

I managed to attend both days of the conference and on the third day was able to sit down with Dr. Lynch to discuss the swath of issues surrounding Lynch syndrome – here in the United States and abroad. I am hoping we can collaborate with doctors, genetic counselors, and other advocates very soon to address these issues. I’ve said it before and will say it again, Lynch syndrome will never get its props like B-R-C-A until we’re all on the same page and present a united front — just like most of the B-R-C-A community.

Another thing which I would like to bring your attention to … I have another charming genetic mutation called Familial HypercholesterolemiaThe reason I bring this is up is because #FH Awareness Day in September 24, 2015 and it, like Lynch syndrome, it is in dire need of attention.

FH “is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease (CVD).” For more information, please go to => for more information. (Source:

FH Awareness day

On a final note, we had our #Hcchat on September 9th; please click here to read the transcript:





Letter From A Newly Diagnosed Lynch Syndrome Patient …


Letter From A Newly Diagnosed Lynch syndrome Patient …

Hi Georgia,

I’m writing to let you know how very much your advocacy efforts for hereditary cancers have meant to my family and me.

I lost my precious mom in November of 2013 to colorectal cancer and just 6 months later found out that I had endometrial cancer. It was just unimaginable. After having a hysterectomy that successfully removed my cancer, I had genetic counseling and testing and found out that I have Lynch syndrome. The diagnosis was devastating. I immediately began looking to find any and all information I could about Lynch syndrome. That’s when I found your website.

After submitting some questions on your site, I received your response and an invitation to speak personally with you on the phone. Your advice on seeking healthcare providers who are well versed in hereditary cancers has made a huge difference for me mentally, physically and emotionally. I am also making lifestyle changes as a result of talking with you and I feel better overall as a result.

You continue to have people from all over the world sharing their stories which inspire me and make me feel “not so alone” in this. I’ve also learned a lot from the tweet chats which provide a unique opportunity to hear from a variety of experts in the field.

You’ve helped me through a very dark time and I feel like I’m putting my life back together now.

We can all help each other yet there are so many people who know their family history and communicate it but their physicians may not make the connection.
That’s why it is so important to continue to get the message out and even reach a broader audience! You give so much of yourself and your time.

I just can’t thank you enough.

Janet Davis

Global Lynch syndrome advocacy



Global Lynch syndrome advocacy…

A strong family history of colon cancer and early deaths within my immediate family forced me to take drastic measures when I discovered I have one of the Lynch syndrome mutations. My horrible experience from the loss of my reproductive organs and the lack of information on the emotional aspects of having Lynch syndrome on the Internet four years ago was the impetus for my blog: I wanted to share my story because I knew there must have been others in comparable positions suffering in silence and who felt alone and isolated – just as I did. I wanted to give Lynch syndrome and the women who undergo these so-called “life-saving” surgeries a much-needed voice.

Writing about the emotional gravity of having Lynch syndrome as a previvor has evolved into extraordinary global advocacy efforts. I received my non-profit status earlier this year and am on a global mission to educate doctors and the public about Lynch syndrome and other hereditary cancer syndromes. 

People who know they have Lynch syndrome — specifically the “previvors” are not to be deemed “lucky” — those who are truly lucky do not have Lynch syndrome; however, knowledge is only power for those with Lynch syndrome if they have access to the resources which will actually help them reduce their risks: health care services, emotional support, and access to doctors who are well-versed in the issues at hand are exceptionally important for those with hereditary cancer syndromes.

My advocacy efforts take many forms. Aside from creating original content for and keeping everyone abreast to all the latest Lynch syndrome information on various social media platforms, I speak with Lynch syndrome patients from around the world on a daily basis. Many of them have not been referred to a genetic counselor by their doctors and this is highly problematic because many of their fears and concerns could be lessened with genetic consults – genetic counseling is absolutely essential in the genetic testing process — this cannot be emphasized this enough. Most doctors are ill equipped to deal with patients who are undergoing genetic testing – they do not have the skill set of a genetic counselor to deal with the plethora of issues for someone who is at high-risk for developing cancer. The global challenges regarding Lynch syndrome are immeasurable and will be examined in another blog post.

I help patients find genetic counselors; doctors who are knowledgeable about Lynch syndrome and its screening protocol; assist patients with getting involved with clinical trials; find them psychiatrists or psychologists who specialize in high-risk cancer patients; locate places which will provide them with free colonoscopies and other medical screenings, and assist them with whatever else they may need. More often than not, they simply want someone with a empathetic ear.

I also write for other blogs, international medical journals, and frequently contribute to Cure Today – I frequently discuss Lynch syndrome and other hereditary cancer syndromes: I also do podcasts and attend medical conferences.

As I have learned more about hereditary cancer syndromes, I realized there were more similarities between them rather than differences and wanted to raise awareness for all of them. I, along with Amy Byer Shainman, the top BRCA advocate, and Ellen Matloff, a highly respected genetic counselor, came together and created #Hcchat (Hereditary Cancer Chat) on Twitter ( and now on Facebook:

We discuss hereditary cancer syndromes and the various issues, which surround them. Our chats have become highly successful on Twitter – we reach millions of people. We are collaborating with experts and advocates from various hereditary cancer communities who are making significant, unique contributions to this particular realm — we believe all hereditary cancer syndromes warrant the same attention. 

Please join us today for #Hcchat:










Guest Blog Post: Grieving The Child I Cannot Have …


Grieving The Child I Cannot Have …

There are several reasons why a woman may lose her fertility — mine will be the result of being diagnosed with endometrial cancer due to Lynch syndrome. As a result, it is recommended that I have my reproductive organs removed. I have friends who have lost fertility due to polycystic ovary syndrome, endometriosis, or other causes — it is a terrible loss, especially if the woman facing this issue has never had children. For me, it has been overwhelmingly sad and incredibly painful for me to face. In my distress, I have reached out to my friends and found that a lot of well-intentioned people have absolutely no idea what to say to a woman who will lose the ability to have a child. While many of them mean well, I cannot help but feel that some of the things they say are hurtful. People who find themselves in this challenging, difficult situation need encouragement and support during this time.

These are things I wish some people had NOT said:  

“You never know, God can work miracles!”

It sounds like a good thing to say, but these are the facts: I know that I will never give birth, despite my longing for it. I will not have the vital organs necessary in order to give birth. I will never give birth, regardless of how I have always wanted to be a mom since I was in second grade. No amount of prayer will change that — in less than two weeks I will lose my uterus along with the chance to bear a child.

Some may view my issues and emotional pain as difficult to understand. It seems my emotional pain makes them uncomfortable. I know they are trying to console me, but it doesn’t feel that way. I consider myself a person of faith. My beliefs have sustained me as I face this loss — I know there is more to this life than being than being a parent. In a difficult situation like this — sometimes it’s just best not to say anything; sometimes it’s just best to “weep with those who weep.”

“The doctors told my mom that she would never be able to have children and yet, here I am!”

I’m happy for you and your mom but the fact of the matter is that I have currently cancer due to genetic mutation called Lynch syndrome. I have consulted with a genetic counselor and multiple doctors of various specialties, and have read many medical journals. I’ve pondered percentages, looked at success rates, and figured costs. I simply cannot afford the alternative options available to have a biological child.

“You know, you could always adopt!”

I know you are trying to be helping and searching for a solution. There is no easy fix. I don’t believe adoption is a universal cure for childlessness. I have been thinking of adopting for quite a while, just never thought it would be the only way I could have kids. But the thing is, right now, in this moment, I am grieving the child I cannot have. Telling me, in my moment of grief, “you can adopt” seems to minimize my feelings.

Also, not everyone can or wants to adopt and an adoption agency would want to make sure that adoptive parents are healthy and have a good life expectancy. If someone has lost their fertility due to a serious and ongoing health problem, like cancer, they may need to be certified “NED” (no evidence of disease) for five years before an adoption agency will accept them. By the time they reach that point, it may be impractical to adopt a newborn, which raises another issue. With newborn adoption, the birth mother often gets to pick the family that gets her child from looking at a profile about them. It may be very hard to get a birth mother to pick someone she may be afraid will get sick and die before her child is grown.

The are the things I wish someone would ask:

“Are you ok?”

This will give your friend a chance to share and you an opportunity to find out more about the situation before you step in it using one of the three phrases above. It shows that you care enough about their situation to want a true answer to this common, polite question.

The greeting of “How are you?” has become my latest social minefield. People say it all the time, expecting nothing else but: “Fine, and you?” I am definitely not doing fine at the moment, but I also don’t want to dump everything on a colleague or acquaintance. It is such a relief when someone I’m close to asks me how I’m doing because I know they really want to know. If you can be that kind of person, to listen to the grief, pain, and confusion of another, you will be giving them a gift beyond measure.

“I’m sorry for you.”

When someone shares this level of hurt with you they are not looking for a fix or solution to their problem. There isn’t one. When you acknowledge their pain, you show them that they are not alone, and you give them a safe place to express their sadness and loss. Some of the best, most meaningful conversations I’ve had in recent days have started with “I can’t imagine how bad this is for you” or,  “That’s terrible!” — any words which suggest empathy or understanding are greatly appreciated.

Cancer is isolating and so is struggling with infertility – couple them and then doubly so. Just knowing that someone knows, and cares, and is in your corner as you face this horrible thing that has disrupted your future is so, so important. The love and support of my friends and family during this difficult period has sustained me and has given me immeasurable strength.

“How can I help you through this?”

If you ask this, be prepared for them to say they don’t know, or that there is nothing, really, that you can do. I have been amazingly blessed by wonderful friends that have taken me to appointments and medical procedures, been a second pair of ears in hard consults with surgeons and oncologists, and have brought food to my house. Many friends, new, old, near, and far have been ready on the phone or the Internet when I need to talk, and have respected my privacy when I needed to be alone.

A close friend of mine from college, who had a hysterectomy a few years ago, asked me if I wanted her to be with me for the surgery. I so desperately did, but was afraid to ask and put her on the spot. Since she asked me, I told her the truth, and she is planning to drive in from out of state and hold my hand before and after my surgery. I am so thankful for this kind, generous gesture. I believe that this is the most powerful thing you can do for your friend who is losing her fertility. Grieve with her, hold her hand through the tears, and help adjust to the new kind of life with you by her side.

Elizabeth is a high school math teacher in Texas who was diagnosed with colon cancer in May, Lynch syndrome in June, and endometrial cancer in July. It’s been a heck of a summer. When she’s not writing, knitting, or recovering from surgery, you can find her cheering on her students at Friday night football games. She just turned 33.

A note from Georgia:

For those of you who may find yourselves in a similar situation, please note that there are many organizations which may be able to assist you in preserving your fertility: , or please just Google “Preserve fertility resources.”

Much gratitude to Liz for sharing this very difficult story. 

Our next #Hcchat is coming up on September 9; please see the banner below for more information. 

For those of you on Facebook … Ellen, Amy, and I are uniting with all of the stellar advocates from all hereditary cancer syndromes. All hereditary cancers warrant the same attention. Please be sure to follow this page:





Megan Meyers, #Hcchat on Facebook, and The Dr. Henry Lynch Symposium, and The Buttfolio

Real quick … some important information and news for you — Megan Meyers talks Lynch syndrome, #Hcchat on Facebook, The Dr. Henry Lynch Symposium, and The Buttfolio …

Megan Meyers, a great genetic counselor from UCSF (some of you may know her from recently came out with a highly informative video on Lynch syndrome. It’s definitely a #MustWatch. Gratitude to The Hereditary Colon CancerFoundation (  for bringing this to my attention.

Also, if you’re on Facebook, you may want to follow our new #Hcchat (Hereditary Cancer Chat) page. Yours truly along with my partners in crime, Amy Byer Shainman and stellar genetic counselor Ellen Matloff, created this page to keep you up-to-date with information from our successful #Hcchat’s on Twitter. We encourage you to ask questions, share stories about your hereditary cancer syndrome, post blogs, and to make connections with others from the various hereditary cancer communities.

All hereditary cancer syndromes warrant the same attention and that’s what we’re aiming to do on this platform! Our next Tweet chat is coming up next month. Please see the details below. 



Also, Creighton is hosting a hereditary cancer symposium in honor of our beloved Dr. Henry Lynch next month. Please click on the link below for more information.


No worries if you cannot attend — I will be sure to keep you in the loop about all the latest in regards to Lynch syndrome and other hereditary cancer syndromes.

And last but not least, Dustin and Ben from The Buttfolio are looking for models!  The Buttfolio is a photobook project, aimed at young-onset colorectal cancer, and some of the genetic factors which contribute it. They are currently accepting applications from candidates in the Maryland/DC/Virginia/Delaware region, who would like to be photographed for the book! Survivors, current patients, caretakers, nurses, practitioners, anyone linked to the community with a butt and a story! You can fill out the quick questionnaire on the website under the “Join” tab at the top. It takes about 3 minutes to fill out, and they’ll get right back to you to set something up!

If you’re interested, please click here:

KickStarter Image III

Hope you’re all well and enjoying the summer.



In Search of A Simpler, More Meaningful Life …



I just made a profound, much-needed changed in my life — I moved out of my home of twenty years in order to live a simpler, more meaningful life. I suppose being a homeowner has it upsides for many but for me it became the bane of my existence. My home began to represent a place I no longer had the energy for – it was a reminder of who I no longer was; it what a reminder of a place I was no longer capable of wanting to care for; it was a place where I found myself around people and situations that were negative and left a lot to be desired.

We got rid of the majority of our stuff — a very liberating experience I must say — and moved into a two-bedroom apartment in a suburb outside of Chicago to a place which I love. Our new space is open, eco-friendly, bright, and full of life.  There is very little here to remind us of the past four difficult years. It has radically changed my life – I am much happier, I feel as though an elephant has been lifted from chest, and I don’t have this sense of dread when I awake in the morning. Like-minded, kind, and emotionally generous people besiege us. Our place is small but beautiful. I clean far less and am able to spend more time nourishing the things I love – my family, my friends, my dog, my advocacy efforts, but more importantly, myself.

Being diagnosed with Lynch syndrome and becoming an advocate for those with it and other hereditary cancers has given me tremendous clarity – life is not about living to work, buying stuff, and spending money on things we don’t need. Life is about family, friends, caring for each other, enjoying life’s little pleasures with the one’s you love, helping others, and trying to leave this world a little better than you found it — the world would be a far better place if we defined ourselves by what we give rather than by what we have and take.

Speaking of giving … I had the pleasure of seeing Travis and Shawnie from The Hereditary Colon Cancer Foundation (one of my fave foundations) –  last week. I was very grateful they took time out of their hectic schedule to give me some of their time; they are on my top 3 list of the most emotionally generous souls I know within the colon cancer community (Candace, you’re up there, too).  I’ve said this before and I will say it again: I think that if the colon cancer and Lynch syndrome communities are truly serious about helping those with colon cancer and hereditary cancer syndromes then we could be far more successful and effective if we supported each other and presented a united front, like most of the BRCA community. Everyone is doing amazing, unique things and we need to be more supportive of each other. Period.


In the meantime, Ellen, Amy and I will have our next #Hcchat -> in September with Dr. Sharlene Hesse – Biber, author of the book Waiting for Cancer to Come on September 9th and the topic is:

Who Really has Access to Genetic Testing? Details to follow shortly.



Regarding the Lynch syndrome advocacy front — yours truly was recently asked to write The Letter to the Editor for a Greek oncology journal, please see the link below:

July 2015 Forum of Clinical Oncology: Greece. Editorial:

I Have Lynch syndrome by Georgia Maria Eliopoulos – Hurst

Greek onco

I also recently posted a new piece in Cure entitled: Scoping Out Colon Cancer. There’s a short discussion about the importance of having a colonoscopy and I offer some advice on how to get through it without issues:


Scoping Out Colon Cancer

I hope you’re all enjoying your summer, nourishing yourselves with all the amazing fruits and vegetables available this time of year and spending time outside getting some vitamin D.





Ellen Matloff Unplugged

Ellen Matloff Unplugged

Ellen Matloff Unplugged

I was on the phone one day last winter with Amy Byer Shainman, my BRCA #BFF, and we were talking about starting #Lschat (Lynch syndrome Chat) on Twitter. Lynch syndrome was in dire need of a strong media presence on Twitter and so that is when I decided to begin #Lschat (Lynch syndrome chat). Amy and I had participated on various other Twitter chats and wanted to mix things up a bit by bringing an expert onboard; I wanted to be sure we were providing our audience with the correct information and to give them with the opportunity to ask experts from the fields of our topics any questions they may have.

If you’re interested in genetics and the politics behind them, then chances are you know the name Ellen Matloff — a.k.a. genetic counselor extraordinaire. I tend to think rather big — and so I asked Amy: “How about we call Ellen Matloff and see if she’s interested in working with us?” Amy thought I was nuts, we called her, and then Ellen jumped on our #Lschat train. After a few successful #Lschat’s, we decided to focus on various hereditary cancer syndromes — not just Lynch syndrome — because of the many parallels between them. Whilst I am an advocate for those with Lynch syndrome and Amy is one for those with BRCA, we’ve decided that all hereditary cancers warrant the same attention. #Lschat evolved into #Hcchat — our chats always include Ellen and usually a expert on the topic being discussed.  To date, our last #Hcchat has made over 70 million impressions on Twitter.

And so, it is with great pleasure I bring you the interview I recently had with Ellen Matloff…

G: Ellen, you’re well known in the genetics and hereditary cancer worlds because you were an outspoken plaintiff in the BRCA patent case that went to the Supreme Court.

E: Well, thank you. I saw the negative impact of the patents on patients, clinical care and research and I’m passionate about the topic. I’m also good at ‘outspoken’.

G: Yes! We love that you speak the truth and that you stand up for patients!

But other than being a plaintiff and a cancer genetic counselor who has published a lot in hereditary cancer, we don’t know much about what you’ve been up to since leaving Yale and clinical practice. But let’s start with some history. How did you end up in genetic counseling?

E: I learned of genetic counseling during my sophomore year at Union College when a local genetic counselor gave a lecture to my Genetics class. The combination of science and psychology fascinated me. I did a genetics internship at Albany Medical School and I was hooked!

G: What made you go into cancer genetics, specifically?

E: My first job was actually in general and pediatric genetics at SUNY Health Science Center in Syracuse, NY. I did a lot of work with Cystic Fibrosis families and I’m still in touch with many of them. I learned a great deal about general genetics. But the field of cancer genetics was beginning to crack open and I saw an opportunity. The then Director of Yale Cancer Center, Vince DeVita, recruited me to start their program, so I packed my things and moved to Connecticut.

G: Was Yale eager to have you start a Cancer Genetics Program?

E: Hmm, not so much. There were a few visionaries, like Dr. DeVita, who knew this was the wave of the future, and they supported the movement. But I was surprised at the reluctance of many clinicians and patients to launch genetic testing. Remember, it was 1995 and many saw the whole thing as ‘fortune telling’ and ‘Pandora’s Box’. I gave a lecture to a group of research clinicians when I arrived and mentioned the option of prophylactic surgery for people who carry mutations. A research nurse yelled out in the middle of my lecture that I was ‘suggesting the mutilation of their patients’. I was shocked. Not only were there data to support this option, but also patients were having such surgeries based on family histories alone! Over time colleagues began to trust me and to trust genetic testing, and over 18 years we built one of the best programs in the country.

G: So 18 years later you were the Director of one of the most successful and visible Cancer Genetic Counseling Programs in the world. What made you leave?

E: To be honest with you, I never thought I’d leave. I was so invested in our patients, the clinicians I worked with, and my staff — I would have bet you a million dollars that I’d be sitting in that chair for the next 25 years. But the climate changed and I started exploring Plan B. It was then that I saw the opportunity of My Gene Counsel laying ahead.

G: What was the opportunity?

E: Much of my research had focused on adverse events in genetic testing. Meaning, what happens when people misinterpret genetic test results? We collected cases from all over the country of patients whose test results were misinterpreted and they’d had prophylactic surgeries they didn’t need, or had been diagnosed with late-stage cancers because they’d been falsely advised that their results were normal.

G:  What? How terrible!

E: Yes. And what is even more terrible, the frequency of these errors is increasing because genetic testing is becoming more complex, is being ordered more often, and the overburdened clinicians ordering that testing have little knowledge of genetics. Add to that President Obama’s Precision Medicine initiative and the huge drive toward genetic testing in almost every area of medicine and you can see the two train tracks crossing.

G: That sounds like a train wreck, not an opportunity!

E: But it is an opportunity – an opportunity to prevent the train wreck! And that is what I saw very clearly. We need a digital health tool to accompany genetic test results to ensure that clinicians and patients interpret results accurately. That is what we’ve built at My Gene Counsel (mGC).

G: Wow. That is quite an undertaking. Will the mGC tool replace genetic counseling?

E: I’m so glad you asked that question … absolutely not. The mGC tool will help guide patients who’ve had genetic testing to certified genetic professionals. But it does a lot more than that. It will help clinicians and consumers effectively utilize genetic test results and stay up-to-date.

G: How have you built the mGC tool?

E: We’ve built it using lessons learned from many years of clinical experience in the field, and with the help of active clinicians who are entrenched in this work. We’ve also had consumers on board since day one, and are building a tool around their needs.

G: A lot of companies, studies and initiatives give lip service to involving patients and Consumer Advocates, but few do it in a genuine and meaningful way. Why did you decide to involve us?

E: Honestly? Because over the past 20 years I’ve learned the most important lessons from my patients. My patients gave me cues about the problems in the field, what they needed, and the direction in which the field was moving — I just needed to listen. Consumer Genomics has never been stronger and any viable genomics product must involve consumers, and revolve around consumers.

G: Amy Byer Shainman and I approached you months ago about partnering with us to create #Lschat (Lynch syndrome Chat) which is now #Hcchat (Hereditary Cancer Chat) on Twitter. Not many CEOs of a burgeoning start-up would have taken the time to partner with two Patient Advocates. Why did you?

E: I would have been crazy not to. You and Amy are two of the most active advocates for Lynch syndrome and BRCA, respectively. It was a great opportunity for me, and for My Gene Counsel, to become more embedded in the consumer communities and to really learn what you want, what you need, how you think. We’ve used that information to build and shape the mGC portal. I also love working with you and Amy, and the hereditary cancer community. 

G: How do you see the My Gene Counsel tool playing out as genetic testing evolves, and as precision medicine evolves?

E: I think that as this launches and becomes integrated, we’ll look back and wonder how we ever managed genetic testing without the mGC tool. Our nation and our health care system are investing so many resources into genetic testing and precision medicine — we can’t afford to have the critical information we gain from genetic testing to be misinterpreted.

G: This is exciting stuff!

E: Yes, we think so. We seem to be in the right place at the right time: genetics, precision medicine, digital health, and consumer genomics are all ripening at the same time. My Gene Counsel is at the crossroads of all four — we are very fortunate.

G: Ellen, thank you for your time, for working on #Hcchat with us, and for being on’s Board of Directors. The pleasure is most certainly all mine!

E: You are most welcome!

If you’re interested in Ellen Matloff’s work, please visit:

On Twitter:

And to follow #Hcchat (Hereditary Cancer Chat):



#Hcchat, Mayo, Keytruda, BRCA, and Pink & Blue



Ellen Matloff of (@mygenecounsel), Amy Byer Shainman (@Brcaresponder), and I had another #Hcchat last night where we discussed men and hereditary cancer syndromes in honor of Men’s Health Month. You may find the transcript along with many of the informative banners for the chat here:

One of the most important parts of that chat, which we wanted to bring attention to, is a study about men with the BRCA mutations, being conducted at Boston College by Dr. Hesse-Biber. For more information regarding this study, please click on this link: 

#Hcchat was highly successful and managed to make almost 6 million impressions on Twitter thus far — just within the past 24 hours. We will be having another #Hcchat in the next 4-6 weeks, more details regarding the topic will be announced shortly.

In the meantime, I returned from Mayo about month ago and thankfully got another clean bill of health — all my scopes were clear, not a polyp to be found anywhere and my blood work came back perfect with the exception of my hormone levels. It took me a few days to appreciate the good news because my scanxiety was through the roof. My 2nd Mom came with me on this trip, and we actually had a lot of fun and have decided to make an annual pilgrimage out of it. I spent five days there this time because I had to see a dermatologist and speak to a gynecologist because my hormones are out of whack again. I’m on HRT but my blood work suggested that I am still not getting enough estrogen. Again I have found myself in fog of lethargy. I’m developing osteoporosis in the lumbar area of my spine and have managed to shrink 1.75 inches within the past two years. If I keep shrinking at this rate I’ll only be two feet tall when I die, oy vey! Yes, I’m thankful I’ve been able to take preemptive strikes again some Lynch cancers and all but people need to realize there are life-altering consequences to these surgeries, they are not to be minimized.

I went to ASCO in Chicago a couple of weeks ago; the most relevant piece of information for those of us with Lynch syndrome is that Johns Hopkins is working on a clinical trial using a tumor’s genetics to guide immunotherapy. Clinical benefits have been noted in cancer of the colon, uterus, stomach, prostate, duodenum, and bile ducts with those with advanced stages of Lynch syndrome related cancers. Here’s an article from The New York Times discussing the immunotherapy called Keytruda: . This is the clinical trial to watch; the issues are that this immunotherapy is not currently covered by insurance and is very expensive — hopefully these issues will change with time. I also had the privilege of meeting Deborah Anderson, The Chief Executive of Bowel Cancer UK — I look forward to some form of collaboration with her in the very near future. 

In the meantime, I’m in the process of simplifying my life and moving to a town outside of Chicago where I’ve always wanted to live. I’m downsizing and relinquishing my responsibilities as a homeowner to spend more time doing things I have found tremendously meaningful — spending more time with my family and focusing on my advocacy efforts and non-profit. With, I spend countless hours speaking to those who have been recently diagnosed with Lynch syndrome, helping them find resources needed to fill in the medical gaps, writing for this site, other blogs, Cure Today, writing for global oncology journals, doing podcasts, connecting with doctors, genetic counselors, patient advocates, and spending time working on #Hcchat with Amy and Ellen.

Please be sure to check out my articles on Cure Today: am a monthly contributor to them and write a lot about Lynch syndrome, hereditary cancer, genetic counseling, and genetic testing. I’m trying my best to get the word out about Lynch syndrome and it’s working — and one of the reasons why it’s working is because of the BRCA community. I have found them to be exceptionally supportive and helpful with my advocacy efforts and I now know why they have been so successful as a whole. They are smart, resourceful, support each other regardless of their differences, and are social media savvy — other advocates should take heed. So kudos to them for helping me get the word out about Lynch and other hereditary cancers. They don’t make distinctions between hereditary cancer syndromes — I am honored and flattered they have been so supportive, helpful, and inclusive — so thank you to the BRCA community! Infinite gratitude for all of your support.

Speaking of BRCA, the trailor for the movie Pink & Blue recently came out and I think it’s an amazing piece of art; no mud, no lotus. It will be out in the fall, cannot wait to see it. Check it out here: 




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