Battle for the Breasts!


Ambry Genetics announces Title Sponsorship for Battle for the Breasts, to raise awareness in the fight against breast cancer. 

Ambry Genetics and the Mauli Ola Foundation announced the ‘Battle for the Breasts’, an online surf video contest, powered by Surfline. The goal of this three-month event is to increase public awareness of breast cancer and the importance of early detection and screening. Sixteen randomly selected cancer center/clinic foundations will be represented by the world’s top women’s surfers for a chance to win up to $125K worth of hereditary breast cancer testing vouchers donated by Ambry Genetics.

In the ‘Battle for the Breasts’, the Association of Surfing Professionals top women’s surfers’ video submissions will compete against each other for the fight against breast cancer. Each surfer will be paired with a cancer center/clinic foundation and will surf on its behalf. The top 4 surfers will win genetic testing vouchers for the foundation they are chosen to represent. The remaining 12 foundations/clinics will also receive a voucher for a comprehensive BRCA1 & 2 analysis for participating in the contest. Ambry Genetics plans to donate all vouchers for testing to these foundations on behalf of the surfer’s overall performance.

This is a remarkable opportunity for free genetic testing for breast cancer with no obligation required.

All you must do is fill out the registration form at: 

Please be sure to share and pass this on! You may help save someone’s life!

The Documentary: Pink and Blue

Alan Blassberg, Producer of the Pink and Blue documentary with me in L.A. last week.

Alan Blassberg with me in L.A. last week.

Breast cancer is not just a “pink” thing; it can be a male thing, too. What I find so ironic is that the color pink, not blue, was affiliated with boys up until the 19th century; most children before World War I wore white, usually until the age of six. White clothing was much easier to clean and it wasn’t later in the century until dyes became popular when children began wearing pastels — boys mostly wore pink, girls wore blue.

History tidbit via Smithsonian, no charge: A June 1918 article from the trade publication Earnshaw’s Infants’ Department said, “The generally accepted rule is pink for the boys, and blue for the girls. The reason is that pink, being a more decided and stronger color, is more suitable for the boy, while blue, which is more delicate and dainty, is prettier for the girl.” Other sources said blue was flattering for blonds, pink for brunettes; or blue was for blue-eyed babies, pink for brown-eyed babies … In 1927, Time magazine printed a chart showing sex-appropriate colors for girls and boys according to leading U.S. stores. In Boston, Filene’s told parents to dress boys in pink. So did Best & Co. in New York City, Halle’s in Cleveland and Marshall Field in Chicago. Today’s color dictate wasn’t established until the 1940s, as a result of Americans’ preferences as interpreted by manufacturers and retailers. “It could have gone the other way,” … So the baby boomers were raised in gender-specific clothing. Boys dressed like their fathers, girls like their mothers. Girls had to wear dresses to school, though unadorned styles and tomboy play clothes were acceptable. - Source:

So why are men capable of developing breast cancer you ask? Well, evolutionarily speaking, humans are deemed mammals, yes? Yes! Mammals have body hair, three middle ear bones, and modified sweat glands otherwise known as mammary glands, or breasts. That’s right, boobs are really modified sweat glands – not so sexy when you look at them that way, eh? All embryos begin as “female” and it isn’t until around the embryo’s sixth week when the male chromosome “kicks” in for it to become male and therefore develop male characteristics. Nipples and breast tissue in men are vestiges of their “female” beginnings. As a result, men can get breast cancer and may develop other medical issues which may cause their breasts to enlarge. 

Which brings me to the documentary – Pink and Blue. It will be coming out shortly and discusses the social disparities between the genders in regards to having the BRCA mutation. I had the pleasure of meeting Alan Blassberg, the producer of the documentary last week when I was in L.A. If you’re a reality TV junkie, chances are you’ve seen some of his work — Wife Swap? We all know the women who are BRCA+ have significant chances of developing breast and ovarian cancer; but men also who are BRCA+ are at risk of developing breast and prostate cancer, melanoma, and others. Comparable to Lynch syndrome, those with the mutation have a 50/50 chance of passing it on to each of their offspring. This year 2,190 men will be diagnosed with breast cancer and 410 will most likely die from it.

Alan and I have so much in common and it was totally serendipitous that we meet– through that we realized how small the world really is and that is was part of the Universe’s plan that we meet. #ILOVETWITTER! He and I hit it off right from the get-go — we sat and spoke for a few hours as is we had been friends forever. I encourage you to watch a clip from the documentary; I think it is a beautiful, progressive piece of art that Alan has created from the misery he has seen and endured; he has lost grandmother, aunt, and sister, Sammy, all from cancer; Alan is also BRCA+. Like me and my brothers, who all hold/held the Lynch mutation, Alan and his two sisters also hold/held the BRCA mutation. We both know what it’s like to lose a sibling and to be mutation carriers; we are both looking for progressive, creative ways to educate and help others and lessen the misery in the world.

Cancer is cancer and no one should ever have to go through it because much of it can be prevented.

To learn more about the Alan and his documentary, please click on the following links:


This is a quote from, one of my favorite blogs, which I wanted to share with you. Words of wisdom: realize, evolve, and act.

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Have a stellar weekend.

Be well, be mindful.




Why Does Genetic Testing Take So Long?

laboratory assistant girl  in the genetics laboratory

Post by Sarah Witherington, genetic counselor extraordinaire…

One of the common questions I am asked by patients and other medical professionals is: “Why does it take so long for genetic tests results to come back?

Most doctors and patients are used to receiving blood test results within 48 hours. So why on earth would genetic testing take so much longer when it is also done on blood?

Let’s back it up to high school science class again and my last post where I spoke about DNA and mutations.  Let me put the size of the human genome, which remember is the instructional manual for body and its functions, into perspective for you.  In 1990, we first started trying to read and copy the entire human genome, it took us until 2003 before we had the entire human instruction manual mapped. That is 13 years of scientists, the best minds in the world, working around the clock to try and complete this project. And it cost us a total of $2.7 billion dollars. That’s Billion with a “B”, which by today’s inflated standards many not seem like much, but that was back in the 90’s when a tank of gas cost you $1.10 per gallon. No joke.

So now let’s think about the size of the genome in another way.  Remember when I talked about DNA being the instruction manual for the human body? Then there must be “words” in our instruction manual, those “words” are what we call genes.  And the “words” are written in chemical letters, some of you may remember this from biology as A, T, G, and C.  Those are the only four letters that make up the words within our instruction manual.  The human genome project allowed us to count the number of letters that make up our DNA instruction manual; they came up with the total of 3.3 billion letters (that’s another Billion with a “B”) per strand of DNA and you just happen to have 2 strands of DNA, so let’s make that number a round 6.6 billion.  And that’s not 6.6 billion letters per person, that’s 6.6 billion letters per cell.  According to my Google search the average book has about 500,000 letters in it. That means that each cell in your body contains about 13,200 books worth of information.  Think about the enormity of that for a second. One square inch of your skin contains 9.5 million cells and each one of those cells contains the equivalent of 13,200 books. Yikes!

Ok, ok, I’ve harped on it enough, you’ve got the idea.  The human genome is huge! So imagine what all we have to do in the lab to make sure we are doing a test correctly and interpreting our science correctly. So let’s go back to the tube of blood your doctor drew. That tube of blood gets packaged up and shipped to any number of genetic laboratories, which usually takes 24-48 hours, so there goes our 48 hour results window automatically! Once it reaches us we have to get your DNA instruction manual ready to be read. That means we have to carefully destroy the cells holding the DNA without destroying the DNA itself. Don’t worry labs have become very good at this, you and your kids (or big kids at heart!) can practice a simple version of this concept at home using strawberry DNA.

Once we have the DNA outside of your cells what do we do next? Well right now it’s just one long big tangled mess inside of a tube, you can’t see it of course since it was just inside of a cell that is so small we measure it in micrometers. We clean it up and break it down into smaller pieces that are easy for the machines to read. No one can read 13,200 books all at once, so we have to make it into paragraph size chunks instead.

Your DNA is now nice, clean, and in a readable size so that it can be put on the sequencing machines. There are currently two major types of DNA sequencing methods used in genetics right now for patient testing. When we talk about sequencing DNA, all that means is that we are reading every single letter, copying it into the computer, and then checking the DNA for spelling errors, basically. Obviously, there are a lot of complicated chemical reactions that go into this process and each of these sequencing machines costs hundreds of thousands of dollars.  The first type of sequencing is called Sanger sequencing and it is the “gold standard” of genetic testing. It was of course named after the guy who developed it, Dr. Sanger, because the best way to be remembered in science is to name something after yourself of course! (Sorry, Dr. Sanger.)  So now why is it called the gold standard? Well that’s because it’s the way we have been sequencing things since 1977. Yep, there weren’t any major break throughs in genetics on how to more efficiently read DNA in 30 years. So imagine the excitement in 2007 when the second major type of sequencing came out, this is called Next Generation Sequencing. Clever name right? There is obviously a much more scientific name for it but pretty much everyone in the genetics world calls it Next-Gen for short.

Back on topic! Most labs are using Next-Gen sequencers and confirming any spelling errors using Sanger sequencing methods, just to be doubly sure. But the hard part about being doubly sure about something, is that it usually takes double the amount of time at least. So now that we have read your DNA and put it into the computer, we have to look for misspellings.  “But”, you may ask, “you said that everyone’s DNA instruction manual is the same! How can I have a misspelling?” That’s a great question! I also mentioned that everyone has somewhere around 60 new misspellings compared to their parents and that most people are carriers for something like 10 genetic diseases. Not to mention, that if our instruction manual was all EXACTLY the same then all of us would look EXACTLY the same.  Everyone has very slight variations in their DNA that makes them unique and that means it can be really, really difficult to tell if a “misspelling” is actually normal or if it is disease causing.

Labs spend a lot of time making sure that we are reading your DNA correctly but we also spend a lot of time looking at the letters for misspellings and trying to determine if they could really cause disease.  This is a time intensive process and takes scientists from many different backgrounds.  There are a lot of things we still don’t know about genetics, in fact we really only know what about 4,000 of the genes out of the 24,000 genes in your DNA instruction manual do.  And sometimes we won’t know what these “misspellings” or changes of a letter really mean for you even when we see thousands and thousands of patients. Because the reality is no lab knows everything, science doesn’t know everything yet, and we know that you, as a patient, are making decisions off of these genetic testing results.

We may see billions of letters of genetic code from thousands of patients but at the end of the day we treat each sample very carefully and weigh all the scientific evidence we have.  Because we know if we mess up in anyway, it’s your medical management and potentially your life on the line. So if you are one of those patients who gets an “uncertain” or “inconclusive” result, don’t look at that result as a bad thing, look at that result and realize that as a lab we are working our hardest to get you an answer.  We aren’t going to give you a yes or a no in these cases because if we are wrong there can be dire consequences.

After reviewing all the evidence the scientists at the lab write your individual report, some labs even include all the scientific evidence available with the report. We then send the report to your doctor or genetic counselor so they can contact you.

Depending on what test your physician or genetic counselor orders for you, this whole process can take anywhere from a week to 3 months.  Three months may seem like a really long time to wait for a blood test right? But remember how much data we have to sort through? Somewhere around 13,200 books worth of genetic information and then we have to search all of those words for misspellings that may or may not mean anything all trying to find an answer. It’s not an easy feat. So when you hear your doctor or genetic counselor say a test will take up to 3 months, please try to be understanding. The doctor, genetic counselor, and the lab know you are anxious and worried about these results. We are too. We want to find you an answer and we want to get it right. If we can do it faster, we will, but not at the expense of being wrong.  So be kind to doctor or genetic counselor, I promise they are doing all they can.

If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at

Thanks all for taking the time to read this blog! If you have suggestions please send them our way!

As always, you can email Georgia at and me at

You may as follow me on Twitter: and G at:!

Sarah Witherington grew up in Dallas, Texas and received her bachelor’s degree in Biochemical sciences from Louisiana State University in Shreveport, Louisiana. While studying at LSU, she worked in several research labs studying the genetics of subtropical ferns and Alzheimer’s disease. After graduation she worked in a molecular pathology and cytogenetics lab before attending Northwestern University where she received her Master’s degree in Genetic Counseling. Sarah is a board certified genetic counselor for Ambry Genetics with research interests in pediatric cancers, pheochromocytomas, paragangliomas, and whole exome sequencing.  In what little spare time she has she reads fantasy fiction incessantly, shops online, and is recovering from cliff diving in Jamaica. 

Medical Disclaimer: Information and resources on should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions. 


Ambry Genetics, Eileen Grubba, Matt, Alan, and The


Advocacy work is always challenging but there are moments when it is highly rewarding, specifically when I travel and meet amazing beings who inspire me. I just returned from five days in California. Ambry Genetics invited out to present my Lynch syndrome advocacy efforts to their incredible and exceptionally bright and beautiful staff; I was overwhelmed by their kind, flattering words regarding my work. Moreover, I finally got to meet with the amazing man who saw my potential, ambition, and passion to give Lynch syndrome a much-needed voice — he never underestimated me; my gratitude towards him is immeasurable. 

After a couple of days in Laguna Beach I took the train to L.A. to see two of my nearest and dearest. On Friday night, I finally got to meet Eileen Grubba — my “Lynch sister” – and had the most incredible vegan meal with her at Gracias Madre. We have spoken many times and she is one of the few I feel particularly close to within the Lynch community. She and I share many parallels in regards to how we deal with living with Lynch, especially when it comes to a vegan diet and surrounding ourselves with positivity. She is a pillar of beauty, health, strength, kindness, and is absolutely thriving! She is a busy woman and I greatly appreciated her taking time out of her hectic schedule and philanthropic efforts to have dinner with me. The picture above was taken in the dimly lit room when we had dinner; I had to lighten the photo and this is why it looks grainy.

Part of my advocacy works includes talking and listening to newly diagnosed Lynch patients and I had the pleasure of meeting a wonderful soul on Saturday morning who was recently diagnosed with Lynch syndrome and has already survived two different types of Lynch related cancers. She is currently in remission but she is having a tremendously difficult time because she does not feel well and is experiencing lethargy; “I’m trying to figure out how to live again before I die,” she said to me. Haunting words which have been with me ever since. All I can do is listen and encourage her to find positive ways to “get out of her head” once in awhile. Her quality of life has been compromised on so many levels since she had cancer; there are huge implications to removing body parts, especially of things like ovaries and colons.  

I try my best to offer emotional support and mostly just listen when other patients reach out to me – never medical support, that job belongs to doctors and genetic counselors. Please be leery of other patients or advocates who are so flippant about telling you to remove your organs as if your organs are comparable to kitchen appliances. I am a huge proponent of genetic counseling followed by genetic testing, if deemed necessary, but I think people need to know that there are options for them. Lynch syndrome is not solely about genetic testing, annual screening, and prophylactic surgeries. I have said this a zillion times – it’s a constellation a factors which will determine whether or not your mutation is expressed and turns into cancer. Lifestyle and epigenetic factors such as exercise, diet, environment, etc.,  all play a huge role. It is a heavy and difficult diagnosis to reconcile. Please do not feel bad or crazy if you’re having issues with your emotions – it is hard to deal with but I can assure you that things will get better with time if you make a concerted effort to focus on the positive, make healthy lifestyle changes and be vigilant with your screenings. These things will make you feel empowered and more in control of your situation. 

Then, I met Matt Harrison, an actor who staring in “The Producers” on stage in Santa Monica – please go see it if you live there. It’s a total riot and Matt plays the Nazi in the play ( He and I met on Twitter and we realized how small and incestuous the world is when I introduced him to my BRCA counterpart, Amy Byer Shainman. 

Anyway, I also had the pleasure of meeting with Alan Blassberg, the producer of the “Pink and Blue” documentary; please check out the site at: for more info. More about that later. I also spent a bit of time with Megan from UCSF’s  — she and I met last year in San Francisco. It was great to catch up with her and discuss a little project she and I are working on.

I really love my work and will continue to evolve and expand my advocacy efforts. Lynch syndrome, as with many other deleterious gene mutations, consists of elusive complexity, and many different social, cultural, financial, emotional, and physical implications.  The “one size fits all” approach to dealing with genetic mutations, disease, and even advocacy efforts needs to evolve and become more creative and I am collaborating with many others to make this happen. We need to reach those “who don’t know what they need to know” and that requires an excessive amount of creativity. I have the tremendous pleasure of meeting the world’s most incredible, fiery souls who want to make a difference and lessen the misery of this world and I am extremely flattered that they want to include me in their efforts.

Hope you’re all well.








“Mutation” of the Month: FAP by Genetic Counselor, Sarah Witherington

ideal sample DNA

First, before every genetics person writes me an email regarding my use of the word mutation, please let me explain. I chose the title because it’s nice having two M’s together, it looks and sounds nicer frankly than saying “Genetic Syndrome of the Month”, and because it will give me a chance to explain exactly what is a mutation. This “mutation” of the month column will become a monthly blog and so it’s even more important to make sure we are all on the same page.

Try to remember back to your high school biology classes where you learned about DNA, genes, and mutations.  The easiest way to think about DNA, genes, and mutations is to visualize DNA like an instruction manual. DNA is the book that tells our body how to run properly. It determines what we look like inside and out. Genes are like the words in our DNA instruction manual and we have two copies of every gene. One copy from mom and one copy from dad. Every human in the entire world has the same genes or words in their DNA instruction manual. What makes each of us different then if we all have the same exact DNA instruction manual and genes? Well, that’s wherezmutations come in. Mutations are changes that happen within a gene, so you can think of them as misspellings within a word of the instruction manual. Some of these misspellings are common, like the differences between height, hair color, eye color, etc. But some of these misspellings or mutations can cause diseases. Let’s use Lynch syndrome as an example.  Remember everyone has DNA, our instruction manual; everyone has ALL of the Lynch syndrome genes (I promise!), but not everyone has a change or misspelling in one the Lynch Syndrome genes. And those mutations or changes in the Lynch syndrome genes are what cause the colon cancer and other physical manifestations of Lynch Syndrome.  The reality is that the average person has around 60 mutations, but these mutations don’t have to be diseases causing.

Ok, so hopefully that may have cleared up some of the differences between genes and mutations. And finally let’s get to our “mutation” of the month! This month I wanted to discuss a syndrome called Familial Adenomatous Polyposis, or for short we call it FAP.

FAP is caused by changes in the gene APC and is inherited in an autosomal dominant manner, meaning that the affected parent has a 50/50 chance of passing it down and that you only need one change in one of your APC genes to have this disease. The most common feature of this syndrome is the hundreds to thousands of polyps throughout the colon with some patients being affected as young as 7 years of age. Which is how the syndrome came by its name; familial because it can be passed down, adenomatous refers to the type of polyps, and polyposis just refers to the presence of polyps. By age 35, 95% of patients with FAP have polyps and without total removal of the colon, colon cancer is basically inevitable. There are other associated features with this syndrome such as jaw tumors, dental anomalies, a specific eye finding called CHRPE, soft tissue tumors, brain cancer, pancreatic cancer, and liver cancer in young children. There are blood tests to detect the liver tumors and of course colonoscopy and sigmoidoscopy starting around age 10 and every year until total colon removal. NSAIDS have been shown to decrease polyp size as well but patients will still need to have surgical removal of their colon.

Genetic testing is particularly important in this syndrome since children can be affected at very young ages with polyps or liver cancers. There are of course ethical issues surrounding the testing of minors since they are not yet of an age to make an informed decision. I am not going to go into those issues with this column, since it is a very controversial subject and would best be discussed by someone with more experience in the bioethics realm. I will say, however, that when considering testing of a minor it may be best discussed with a genetic counselor or a physician in order to fully understand many of the ethical issues.

In family members over the age of consent, genetic testing can eliminate unnecessary screening in individuals who are negative for the mutation. Genetic testing for this syndrome is highly accurate and can detect 100% of mutations if the patient has FAP.  There are many similar syndromes that can be confused with FAP so it is important to make sure of the clinical diagnosis before spending money on a genetic test that may not be the most appropriate for you. There are many types of genetic tests out there in the market, not all are made the same, and not all are the correct test for you.  Consult a physician, genetic counselor, or other medical professional when considering genetic testing that can change your medical management.

To learn more about hereditary colon cancer, including familial adenomatous polyposis, or to find support check out:

If you should have more questions about genetic testing and genetic counseling, please check out the National Society of Genetic Counselors website at

Thanks all for taking the time to read this blog! If you have suggestions please send them our way!

As always, you can email Georgia at and me at

You may as follow me on Twitter

Sarah Witherington grew up in Dallas, Texas and received her bachelor’s degree in Biochemical sciences from Louisiana State University in Shreveport, Louisiana. While studying at LSU, she worked in several research labs studying the genetics of subtropical ferns and Alzheimer’s disease. After graduation she worked in a molecular pathology and cytogenetics lab before attending Northwestern University where she received her Master’s degree in Genetic Counseling. Sarah is a board certified genetic counselor for Ambry Genetics with research interests in pediatric cancers, pheochromocytomas, paragangliomas, and whole exome sequencing.  In what little spare time she has she reads fantasy fiction incessantly, shops online, and is recovering from cliff diving in Jamaica. 

Medical Disclaimer: Information and resources on should not be used as a substitute for professional medical care. You are urged to work with your medical care provider for answers to your personal health questions. 


Jasperson, K., & Burt, R. (2014, March 27). APC-Associated Polyposis Conditions. Retrieved July 13, 2014, from

Medical Detection Dogs and Sid


“Everyone needs a spiritual guide, mine is my dog. He has great wisdom to impart.

He makes friends easily and doesn’t hold a grudge.

He enjoys simple pleasures and takes each day as it comes.

He is a true Zen master.

He eats when he’s hungry and sleeps when he’s tired and best of all he befriends me with an unconditional love that humans would do well to imitate.”          


I was speaking to one of my BRCA friend’s the other day (Hi, Amy! She’s on Twitter:, I highly recommend you follow her as she’s a font of info and one of the Twitter leaders in BRCA and hereditary cancer advocacy) and she was telling me about some articles she came across where dogs are detecting various forms of cancer. Most recently, a woman who had rescued a dachshund discovered she had breast cancer because her dog began pawing and licking at her breast; Furthermore, there is an organization called Medical Detection Dogs which trains dogs to sniff out cancer; Scientists are trying to figure out how dogs possess this diagnostic ability so that humans can harness it. Dogs are capable of detecting cancer through their sense of smell with 90% accuracy; that is amazing! I told Amy the story about my dog and so she has inspired me to write about him. 

Well, my dog has not detected any cancer but he has saved me. He has been highly important in my recovery from surgery and of the reconciling of my diagnosis. At the height of my major depression three years ago, when I was suffering the loss of my ovaries and overwhelmed and horrified by my Lynch diagnosis, my days were filled with anxiety, hot flashes, nausea, vomiting, lethargy, loneliness, and immense sadness. One warm August day, my therapist asked me what would make me happy; what could possibly bring some joy to my life and occasionally get me out of head? I told her I wanted companionship — I wanted something warm and furry to cuddle. I had felt let down by so many people – especially by my family and some of my friends. I needed a reason to get out of bed in the morning and something to nurture and distract me. I told my therapist that I had wanted to have another dog; it had been 10 years since my dog Nikko had died. My situation required something more than any one person could give me — it was time to adopt another shelter dog.

I came home from that appointment and told my husband that I wanted to go to Paws Chicago; a stellar, no-kill shelter in Chicago –( and look at the dogs. He was so desperate to do anything to make me feel better that he took me and my son immediately to the shelter that night. Unbeknownst to my husband, I had always wanted a Chihuahua mix. I always loved their adorable faces and feisty demeanors. The first dog that came in couldn’t of cared less about us being in the room with him. He barely noticed us. Then they brought us his roommate, named “JC” and he was a Chihuahua and Jack Russell Terrier mix; otherwise known as a Jack-Chi. He immediately came to me and I said to him, “If you give me a kiss I will take you home!” To my, my husband’s and son’s surprise, JC immediately licked my lips. I spent a whopping 30 seconds with him and had immediately found love.

JC had been at the shelter for two months; he had been found on the street and has obviously been severely abused. He would cringe whenever you would try to pet him and would shake terribly if he heard anyone raise their voice. He was thin, missing teeth, and in dire need of affection, care, and a loving home. I had to change his name – “JC” was unsuitable for him – he was my new little Buddha and so I named him Sid, after Siddhartha. Sid spent the first year with me pretty much in bed or on the couch, cuddling and being loved and loving me back. As I nursed him back to health, I found myself improving, too. He encouraged me to get out of the house, to take long walks, and has fostered new, great relationships between me and many of my others neighbors who also have dogs. After I brought Sid home from the shelter and every one saw him blossom, others on the street have followed our lead; there are about dozen other dogs from Paws which now live on our street.

Sid has been my greatest healer and teacher these past three years. He’s taught me to live in the moment, to spend more time in nature, to live and love more fully, and to express tremendous happiness when I see my friends and family. Initially I thought I was rescuing him and nourishing him – little did I know that he would be doing the same thing for me.

I can assure you, your best friend is waiting for you in a shelter and needs you as much as you need them. There are a lot of beautiful, amazing animals in shelters who are in dire need of your love, attention, and care. Please consider adopting one or two of them, if you can, rather than getting one from a breeder. By adopting a shelter dog, you will save three lives — the life of the dog you adopt, the life of another dog who will the take place of your dog in the shelter, and that of your own. 

Sid is seen above in a kayak with me in St. Louis from a couple of weeks ago. His loves include: bacon, sitting in my lap, perfecting his Napoleon complex, and teaching me what life is all about.




Power Morcellator for Hysterectomy


MorcellatorI have returned from a much needed break. I went to St. Louis last week with my son and dog to get away from Chicago and spent some time kayaking, hiking, spent quality time with my family, and just taking it easy. I always come home from there feeling recharged and inspired. Nothing soothes and nourishes me more than being with my family and spending time in nature. 

I get a tremendous amount of email from people who want to reach out to me regarding Lynch syndrome, its implications, and other issues which may affect us as a result of surgery and treatments. Recently, I heard from a woman who wanted me to assist her in spreading awareness about Power Morcellators - see the image above. This information may be of interest to you if you or someone you love has had a hysterectomy. Seeing as though many of us in the Lynch and BRCA communities undergo hysterectomies, I thought this should definitely be shared. 

This is the email I received…

...I’m the Outreach Coordinator at the American Recall Center. We are a brand new site devoted to providing up to date health and wellness news in simple, straightforward terms. I’m reaching out to you today in hopes that you will help us raise awareness about some new and possibly dangerous developments within the women’s health community.

Power Morcellators, a device commonly used in hysterectomies (the 2nd most common procedure for women in the US), have recently come under scrutiny from the FDA. Power Morcellators are used to cut tissue into small pieces to be removed from the body. The problem is that if the tissues carry undetected cancer, it’s being spread within the abdomen and pelvis during these procedures. Many women are battling uterine cancer as result of Power Morcellators being used during their hysterectomies, and shockingly, the average life span following accidental morcellation of a cancerous tumor is only 24-36 months.

Because of this, it’s our mission to spread the word about this to as many people as possible before the upcoming FDA hearing on the device. Everyone knows someone who has had a hysterectomy, so its important that we get this message out.

Power Morcellators are surgical devices used during laparoscopic or robotic surgery to cut or sever large masses of tissue that would normally not fit through the small incisions used during the procedure, so that they can be more easily removed from the internal surgical site. Problems with the devices have led a manufacturer to suspend sales worldwide pending further study. Importantly, this suspension does not constitute a recall.

Power Morcellators and Minimally Invasive Surgery

Minimally invasive surgical procedures have gained wide acceptance in the areas of general and gynecological surgery. Minimally invasive techniques are now being developed for the heart and lungs as well as other organs. In general, minimally invasive techniques can lead to shorter recovery times by making use of many small incisions in which the surgeon can gain access to internal organs with surgical instruments. A gas or some fluid is often pumped into the surgical space to make more room for the surgery and some type of visualization technique is employed such as an endoscope, microscope, or even an ultrasound. Generally, these procedures minimize trauma to the patient with a more rapid recovery over traditional open surgical procedures.

Many surgical techniques, however, are difficult to accomplish through small incisions used in minimally invasive surgeries. Laparoscopic procedures frequently involve the removal of tissue from the interior surgical site. In some situations, the excised tissue is relatively small and can be passed through the narrow cannula, or thin tube, opening intact. In other situations, however, the excised tissue is too large to fit through a cannula intact. When this occurs the excised tissue must generally be cut down into a number of smaller pieces before it can be passed through a cannula. Removing such large tissue masses laparoscopically through a small access lumen is fairly difficult and time consuming.

What Do Morcellators Look Like?

Specialized devices have recently been employed to sever large tissue masses into segments that can be removed through small incisions. These devices generally include a rotating tube having a sharpened end which extends through a fixed outer tube. This sharpened end is inserted into the patient through a cannula, or directly through an incision. The surgeon inserts a grasping device, such as endoscopic forceps or a laparoscopic grasper, through the rotating tube. This allows the surgeon to pull the tissue up into the tube while grasping the large mass of tissue to be removed. This in turn allows the rotating edge to separate the grasped portion from the larger mass of tissue.

The size of the cut tissue is generally limited by the outline of the rotating edge of the device, so that the surgeon can continue to pull the cut tissue out of the patient through the rotating tube. By repeating the grasping and cutting procedure, surgeons can remove relatively large masses of tissue quite quickly. Because the large tissue mass is cut and removed in small, individually grasped morsels, these devices are often referred to as “morcellators”.

Risks of Using Morcellators

Under the right conditions, minimally invasive gynecologic surgical procedures, such as vaginal or laparoscopic hysterectomy, are preferred because they can reduce a patient’s overall operative risk. Minimally invasive surgery is associated with smaller incisions and may result in fewer complications, less postoperative pain, and shorter hospital stays. Without power morcellation, some patients may be ineligible for minimally invasive surgery for hysterectomy (e.g. supracervical hysterectomy).

Morbidity associated with abdominal hysterectomy can include serious complications such as:

  • Infections
  • Bleeding
  • Deep vein thrombosis
  • Nerve injury
  • Genitourinary and gastrointestinal tract injury

Power morcellation inherently involves the risk of spreading the broken-up tissue. There is no conclusive evidence that manual morcellation, performed either vaginally or abdominally, eliminates this risk. However, the spinning blades of a power morcellator may exacerbate the dissemination of tissue. Morcellation also may lead to the spread of benign tissue that can potentially become implanted and may result in abnormal leiomyoma (fibroids), endometriosis, adenomyosis (which occurs when endometrial tissue grows within the muscular wall of the uterus), ovarian tissue, and fragments of spleen or kidney. Further surgery may be required if implantation of tissue such as this occurs, and cases of infection and abscess, bowel obstruction, and persistent pelvic pain have been reported in the medical literature.

Importantly, morcellation of an undiagnosed cancer may adversely affect a patient’s prognosis. The potential risk of morcellating an undiagnosed uterine, endometrial, or cervical malignancy is currently very difficult to calculate. Recently, the FDA has concluded, based on a Quantitative Assessment of power morcellation it released in April, that 1 in 350 women undergoing hysterectomy or myomectomy for the treatment of fibroids has an unsuspected uterine sarcoma, including leiomyosarcoma. Uterine leiomyosarcomas (malignant smooth muscle tumors) are the subject of considerable concern because they are often difficult to differentiate from benign leiomyomata preoperatively. Indeed, the FDA has concluded that there is no reliable method for predicting whether a woman with fibroids may have a uterine sarcoma preoperatively. Leiomyosarcomas also are notoriously aggressive tumors associated with poor prognosis even in the absence of tissue morcellation.

Power Morcellator Lawsuits

Women who have been harmed by power morcellators are beginning to sue Ethicon and other manufacturers over their products. These lawsuits are in their early stages. If you have been diagnosed with a uterine sarcoma after a surgery involving a power morcellator, or had fibroids or uterine tissue removed from other organs after such a surgery, you should consult an attorney to assess your legal options. Fill out the form on the link provided below for a free case review.

  1. Sauer, Jude S., Roger J. Greenwald, Mark A. Bovard, and John F. Hammond. Morcellator. Laser-Surge, Inc., Rochester, N.Y., assignee. Patent 5,562,694. 8 Oct. 1996. Print.
  2. The American College of Obstetricians and Gynecologists: Women’s Health Care Physicians. Power Morcellation and Occult Malignancy in Gynecologic Surgery: A Special Report. May 2014. Available at: Accessed on June 10, 2014.
  3. Society of Gynecologic Oncology. Morcellation. December 2013. Available at: Accessed June 11, 2014.
  4. Hodgson B. AAGL Practice Report: Morcellation During Uterine Tissue Extraction. J Minim Invasive Gynecol. 2014 May 24. pii: S1553-4650.
  5. Barbieri, Robert L., Options for reducing the use of open power morcellation of uterine tumors. OBG Manag. 2014;26(3):10, 11, 20.
  6. Barbieri, Robert L., Benefits and pitfalls of open power morcellation of uterine fibroids. OBG Manag. 2014;26(2):10-15.
  7. US Food and Drug Administration: FDA News Release. FDA discourages use of laparoscopic power morcellation for removal of uterus or uterine fibroids. Last updated: April 17, 2014. Available at: Accessed on: June 11, 2014.
  8. Rivard, C. et al. New challenges in detecting, grading, and staging endometrial cancer after uterine morcellation. J Minim Invasive Gynecol. 2012;19(3):313-316. doi:10.1016/j.jmig.2011.12.019

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“The most beautiful people we have known are those who have known defeat, known suffering, known struggle, known loss, and have found their way out of the depths. These persons have an appreciation, a sensitivity, and an understanding of life that fills them with compassion, gentleness, and a deep loving concern. Beautiful people do not just happen.”  ― Elisabeth Kübler-Ross

My son graduated from 5th grade yesterday; I tried very hard to be appreciative of the moment but my mind vacillated a bit. I couldn’t help but think if I would have the privilege of seeing him graduate from middle school, high school, and college. Then, I thought about my deceased older brother and how he didn’t even see his daughter’s first birthday and how fortunate I am to be here NOW; we, with Lynch, cannot help but think about these things, especially when our children reach milestones.

I was speaking with Maria O. the other day; many in the Lynch community on Facebook and Lynchville know who she is. She pointed out to me that she has seen an emotional evolution within me over the past year. She said that my current blog posts are the ones she’s been able to relate to the most and that I do not seem as angry as I initially was about my diagnosis when she met me a year ago.

She’s right. I am no longer angry. I have accepted the way my life is and the diagnosis; I suppose you could say I went through most of Kubler-Ross’ 5 stages of loss; denial, anger, bargaining, depression, and finally, acceptance. I didn’t dabble in the bargaining waters at all; I had no one to bargain with. I was very angry with the diagnosis and the emotional tsunami which came with it; it flooded me with all kinds of horrible childhood memories back and only fueled my disdain for my father and other particular members of my family. I realized through therapy, lots of meditation, and reading a lot about cancer and survivors that I am fortunate on so many levels. There were a few things which were the most difficult for me to reconcile — the thought of my son possibly living without me, he also having this, and trying to live a full life sans my reproductive organs.

In order to address the anxiety surrounding my son, I had to dig deep and figure out exactly what the key issues were: what was I truly afraid of? Well, first of all, the obvious — leaving him motherless but second, leaving him with the inability to properly care for himself — when my Mom died, I had no clue on how to do anything or how to take care of myself which only made matters worse. Yes, a great deal of my recent anxiety was brought on through the projection of my own childhood issues. So I have spent the past three years addressing this. I have made him more responsible and self-sufficient. I have taught him how to cook several meals, do laundry, clean, to garden, to call in prescription refills, sending him off to overnight camp, and various other things which would only encourage independence and self-sufficiency. All of this has increased his self-confidence and has lessened my anxiety to some degree because I now know he’s a bright and capable little man who can take care of himself and have set an example for being vigilant with your health. The fact that he’s getting older helps, too. He won’t be left to defend himself in the nest alone as I had been. He has his wings, can fly, and soar in high places now — if need be — this brings me tremendous solace. 

Regarding the loss of my girl parts; I was very angry about losing my ovaries and tremendously miss those beautiful little biochemicals which they produced. Forced menopause at 40 was hell for me and it took a lot of time, many doctors, and various meds to find the right combination of hormones to get me off the nausea – vomiting – migraine – lethargy – depression highway. Things have significantly improved for me because I pushed for them. But it wasn’t until I read Susan Gubar’s book: Memoir of a Debulked Woman, about her struggle and fight with ovarian cancer when I realized I really did make the right decision about having the prophylactic surgery; it gave me tremendous perspective and it shifted my emotional tectonic plates on my situation — ovarian cancer can be deadly and nothing to mess with.

I know there are many of you struggling with your diagnosis, especially if you just found out about it. Just remember that time heals most wounds. Take charge of your life; eat well, exercise, get your annual screenings, capture every moment life has to offer, and look within yourself for the strength you need to overcome your challenges. I came across a quote in my reading a few days ago: “Some people die at 25 and aren’t buried until they’re 75.”  But my best advice to you is this: don’t let Lynch kill you before you’re dead. There’s a lot of love, happiness, and beauty in this world — with enough time, Lynch syndrome will eventually allow you to see these things with amazing clarity. 



The Cancer Olympics Author, Robin McGee: “Do Age Guidelines Mislead Us in Colorectal Cancer Detection and Diagnosis?”



Thank you, Georgia, for your kindly invitation to share on this blog.

My name is Robin McGee. By day, I am a mild-mannered psychologist. By night, I am a crusading cancer activist.

Georgia has positively reviewed my book The Cancer Olympics ( It relates the harrowing story of my very late stage diagnosis of colorectal cancer after years of bungled and inadequate medical attention. It also relates how my community and I successfully lobbied against unfair drug policies in my home province of Nova Scotia, resulting in the best practice chemotherapy for rectal cancer becoming available – although, unfortunately, too late for me to receive it. Finally, the book recounts my search for justice through the medical authorities, culminating in discipline of three doctors for egregious cancer negligence. Georgia’s review underscores the intensity of this story – a sort of “Hunger Games meets cancer care” feel! (

But today I am writing about genetics. I have a puzzling genetic picture:  my mother was diagnosed with colon cancer at 68 and again at 85.  Both tumours were right-sided. Her second tumour was MSI-H. Because I am an early-onset daughter, this pattern was highly suggestive of Lynch syndrome.   However, my own tests came back showing that my tumour was stable: you are not Lynch, they told me. Despite the fact that my family meets Amsterdam and Bethesda criteria , we are not “Family Cancer Syndrome X” either – because my mother and I are mismatched on MSI status.  She was a zebra, but I am a horse.

My surgeon shrugged at this news and agreed to give me surveillance via colonoscopy every three years. She said that there are likely many genetic colorectal cancer syndromes that we do not have names for yet, and that I probably fall into such an unknown category.

One day, perhaps, they will have a label for what I am, and a test to support it. Until that day, I must surrender to the not-knowing.

Of the four doctors I saw in my search for diagnosis, not one considered my immediate family history of CRC to be a relevant risk factor. They documented it but dismissed it outright in their notes and reports. When defending herself to the Medical College, one of them wrote that an immediate family history of CRC has no relevance to referral or triage if the proband is over the age of 60.  According to her, family history is relevant only if the affected family member is under 45 or if there are more than one with CRC. The College concluded that her omission of my family history as a risk consideration was a serious oversight; however, it seems that many experts would disagree. There are still those who argue that a family history of CRC is not a relevant consideration for a family doctor when referring a symptomatic patient for specialist investigation.

How do we make sense of this? How can family history matter in some contexts but not others? Screening programs the world over exhort those with a family history of CRC of any age to start at age 40, not 50, as with average-risk individuals.  Dozens of studies confirm that any immediate family history of CRC increases risk of the disease.  Since the majority of those diagnosed with CRC are diagnosed over the age of 60, how can it be that their diagnosis is “irrelevant” for their siblings and children?

Many doctors assume that Lynch syndrome is only found in early-onset disease. Recently, many cancer centres have moved to universal screening of CRC tumours for Lynch syndrome.  Some of these centres have reported finding that 30% of LS cases were over 60.  Guess what world  It seems colorectal cancer, and family risk, does not follow the rigid guidelines set out in medical textbooks.

My understanding is that we are all at risk for CRC, as we are all subject to GI tract insults. For most of us, it takes six decades to incur the approximately ten insults that bring about CRC.  For those of us with a family history, it takes about five insults.  For those of us with Lynch syndrome, it may take one or two insults. Age of cancer onset has to do with a complex interplay of underlying vulnerability coupled with environmental hazard.

The rigid application of age guidelines kills people. My diagnosis was delayed by two years according to my doctors because I was “under  50,” and therefore not triaged for endoscopy no matter how symptomatic I was.   I met a young woman, only 34, told a year ago she could not access mammography despite her breast lump because she was under 40.  She has cancer in both breasts now.

My appeal is for us – all patients, all doctors – to open our eyes to the true fluidity of life and risk. Lynch syndrome is one of many genetic paths to the danger of CRC, but it is not the only one, and neither is it restricted to the young.   Let us please rise above the rigidity of age categories in our approach to colorectal cancer.

Instead, let us be ever watchful.



Cowden’s Syndrome

woman headache hagover sitting on bed silhouette

Have you ever heard of Cowden’s syndrome? I didn’t until I started tweeting. I read a great deal about other genetic disorders and have met quite a few people on Twitter who advocate for them. Reading and learning about other genetic mutations gives me tremendous perspective about Lynch syndrome; I think it is highly important to raise awareness not only for Lynch syndrome, but for many of the other syndromes. I and those afflicted with these syndromes will be sharing more about other genetic disorders — they are just as important as Lynch and BRCA and are in dire need of awareness; it is also interesting to see the many parallels and differences between genetic syndromes. Today, Heather will tell us about her journey with Cowden’s syndrome. I met Heather on Twitter several months ago and she has definitely become a prominent figure in the Cowden’s syndrome community. She is a definitely a fighter; a tenacious woman with a huge desire to give Cowden’s syndrome a much-needed voice and I think she’s doing a remarkable job. Please find her blog post below. 

Hope you all have fantastic week.



Cowden’s syndrome

On July 18, 201,  I heard the three words which would change changed the direction of my life forever: “There’s something there.”

I was experiencing very odd pressure headaches with visual disturbances; a few doctors wanted to write them off as migraines. I knew they were not  simply migraines and  insisted on further testing.  On July 18, I received a CT scan. When it was finished, the technician told me that my doctor was waiting for me in his office and I needed to go see him immediately.  I found that odd as that had never happened previously in any test or scan I received.  My heart sank.

The next nine days were a whirlwind of MRI’s, meeting with the neurosurgeon, trying to breathe and not collapse from terror. There is nothing quite like being told you have a brain tumor; nothing quite like it in the world.

The first brain surgery was thirteen hours long, and unfortunately I had to have another surgery seven days later due to a CSF leak.  After the surgery my neurosurgeon told my mom and my endocrinologist, “I think she has Cowden’s syndrome.”  To which they replied, “What is Cowden’s syndrome?”

Cowden’s syndrome (PTEN Hamartoma Tumor syndrome) is a rare disorder that affects approximately 1/200,000 people. PTEN is a tumor suppressor gene (similar to BRCA), which makes a person high risk for benign and malignant tumors of thyroid, breast, uterus.  Recently added to this list are: colon, kidney, and melanoma.  Interestingly enough, as I look back on my health, I had thyroid cancer in 2003, but we did not  know of the cancer until after surgery. I also had a huge multi-nodular goiter that was significantly interfering in my ability to swallow, breathe, etc.; the huge goiter is another manifestion of Cowden’s syndrome. I had my tonsils removed in 1991 because they were so large — about the size of walnuts  and they managed to touch the back of my throat —  this is also indicative of Cowden’s syndrome.

Presently, I manage my medical appointments as best as I can and write on my blog and tweet.  I get frustrated when I see so much on Twitter about the BRCA mutation, or the “Angelina Jolie Gene.”  I know more than ever that Cowden’s syndrome needs a voice … and I will be that voice.


TWITTER:  @zheatherchamp


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