September 13, 2014 in family history, genetic research, medical history by Ami McKay

coming to terms with what lurks within your DNA

coming to terms with what lurks within your DNA

Previvor. Are you familiar with the word? Chances are if you’ve seen or heard it before, it’s been in reference to someone who carries one of the BRCA genes that predisposes them to breast and ovarian cancer. (Think Angelina Jolie.)

BUT the thing is, by it’s definition, the word previvor can and does apply to ALL those who carry a hereditary mutation that predisposes them to a specific type (or specific types) of cancer. For instance, if you’ve tested positive for the FAP mutation but haven’t had cancer, you’re a previvor. If you carry one of the genetic mutations for Lynch syndrome (like me,) but haven’t had cancer, you’re a previvor.

A little history lesson. 

How did the term “previvor” originate? According to FORCE (Facing Our Risk of Cancer Empowered- an organization that does an excellent job of raising awareness of hereditary breast and ovarian cancer) the word has an interesting origin, one I find quite fitting in our 21st century world of increased patient awareness and Googleized medicine.

“Cancer previvors” are individuals who are survivors of a predisposition to cancer but who haven’t had the disease. This group includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor. The cancer previvor term evolved from a challenge on the FORCE main message board by Jordan, a website regular, who posted, “I need a label!” As a result, the term cancer previvor was chosen to identify those living with risk. The term specifically applies to the portion of our community which has its own unique needs and concerns separate from the general population, but different from those already diagnosed with cancer.

The medical community uses the term “unaffected carrier” to describe those who have not had cancer but have a BRCA or other cancer-predisposing mutation. The term applies from a medical perspective, but doesn’t capture the experience of those who face an increased risk for cancer and the need to make medical management decisions. Although cancer previvors face some of the same fears as cancer survivors, undergoing similar tests and confronting similar medical management issues, they face a unique set of emotional, medical, and privacy concerns. – From “Cancer previvors.”

I’ve heard of BRCA previvors, why haven’t I heard anything about their Lynch Syndrome counterparts?

Although I became aware of my family’s specific mutation for Lynch syndrome in the 1990’s and tested positive for MSH2 in 2001, I really didn’t think much about this question until quite recently. I suppose, like many who were among the earliest to be tested, I figured I was facing a situation that was rare, specific to my family, and nothing that would be of much interest to others. Also, at the time that I first learned of HNPCC (Lynch syndrome) and it’s place in my family tree, there was quite a lot of fear surrounding the issue, fear that raised loads of questions for anyone who was considering being tested. Could insurance companies drop you if you tested positive? Could your employer fire you? Was I better off not knowing? Even if I choose to have the testing done, should I keep the results under wraps?

Things have changed, right? There are laws to protect against genetic discrimination. So why don’t more people know about Lynch syndrome?

Were the genetic mutations for BRCA discovered first? Nope.

The DNA research for a genetic mutation responsible for HNPCC (Hereditary Non-polyposis Colorectal Cancer) or what would come to be called Lynch Syndrome was happening at about the same time as the research for BRCA (although the international race to find the BRCA gene was far more publicized.) In fact, the Lynch syndrome gene that’s in my family tree, MSH2, was discovered in 1993. BRCA1 and BRCA2 were confirmed in 1994 and 1995 respectively. (And if you’d like to tuck a little more hereditary cancer research trivia away in your brain, the APC gene reposonsible for FAP (familial adenomatous polyposis) a condition that leads to developing numerous polyps mainly in the large intestine, was isolated in 1991.)

Surely BRCA is more prevalent? Nope. 

The facts are these: “Many people, including doctors, think that Lynch syndrome is rare. It’s just as common in the general population as the much more known BRCA genes associated with hereditary breast cancer. One in four hundred (1/400) Americans is walking around with a Lynch syndrome mutation, whether they know it or not.”  – Dr. Larry Geier M.D. genetic oncologist at the University of Kansas Cancer Center.

Why do we find it easier to talk about breast cancer than colorectal cancer? Boobs trump poop, every time. 

I’m being a bit cheeky (see what I did there?) but you know I’m right. Right? Until we get over our queasy, adolescent willies when it comes to talking about our bowels, then people (strangers, friends, family and loved ones) will continue to suffer (and die) because they’re too embarrassed to admit they have “trouble in the deeps” or blood in their stool. I grew up with a grandmother who was absolutely shameless when it came to asking family members if they’d “had a good b.m. today?” She didn’t care how it sounded to others or if it caused offence. Long before genetic tests and the word “previvor” she knew that talking about your poop could mean the difference between life and death.

Lynch syndrome only involves colon cancer? Not by a long shot!

Colorectal and endometrial are the two cancers most frequently associated with LS, but other associated cancers include, stomach, bladder, heptobiliary, small intestine, ovarian and brain. Research is currently being done to see if certain types of breast cancer are also associated with it.

have you had a good bm today?

have you had a good bm today?

Here’s the deal…

I know I’ve made a lot of comparisons between BRCA previvors and Lynch syndrome previvors in this post. It’s not to favour one over the other, but to simply make a point, that we’re at a crossroads when it comes to medical science and health care, and we need to increase awareness of ALL hereditary cancers. As researchers move forward with their work, more genes will be discovered, more lives will be touched, more humans will be added to the list of “previvors” and thus given the chance to participate in the course of their care.

All previvors have similar concerns. We have screenings to schedule (for Lynchies that includes colonoscopies, blood tests, endometrial biopsies, transvaginal ultrasounds, and ultrasound of the bladder and upper urinary tract as well as urinary cytology.) We have prophylactic surgeries to consider (for those with LS its sub-total colectomy and, if you’re a woman, hysterectomy.) We have family histories to uncover, children to worry over, and an ever-present list of symptoms to track.

If you’re new to my blog, or to Lynch syndrome (or you’re looking for a way to explain it to others,) this video featuring the aforementioned Dr. Larry Geier, gives an excellent overview of what it is and what to look for when tracing a history of colorectal cancer in your family.

Thanks for reading, and boldly go!

People and places and resources related to this post.

FORCE (for Hereditary Breast and Ovarian Cancer support)

FAP Gene support group

Fight Colorectal Cancer’s Lynch syndrome primer (could it be in your family tree?)

LSI (Lynch Syndrome International)




Down the hatch, without a scratch.

February 22, 2014 in family history, medical history by Ami McKay

"Champion Sword Swallower" - attributed to Neiman Eisman

“Champion Sword Swallower” – attributed to Neiman Eisman

Happy World Sword Swallower’s Day!

Two important threads have run throughout my work as a writer in recent years. One is my passion for exploring stories that are inspired by events or movements in medical history, and the other is my admiration and respect for sideshow folk. While writing my play, “Jerome, the Historical Spectacle” (which features a traveling band of Victorian sideshow performers) I also began the research for writing my second novel, “The Virgin Cure.” The novel contains a character based on my great great grandmother, Dr. Sarah Fonda, who in real life became the first female physician to be accepted into any medical society in the United States. In the novel, “Dr. Sadie” is friend to dime museum owner Mr. Thadeus Dink who also runs a theatre and sideshow on the premises. One scene in the book depicts Dr. Sadie visiting the museum’s resident sword swallower,  Miss Eva who is suffering from a case of “sword throat.” (Thanks to Google and some helpful tweets from two amazing present-day sword swallowers, Dan Meyer and Lady Aye, I was able to get the details right.)

Edith Cliftord depicted on a card from Messers Chewing Gum (circa 1910)

Edith Clifford depicted on a card from Messers Chewing Gum (circa 1910)

Dr. Kussmaul’s rigid endoscope

Imagine my wonder and surprise when my research further revealed that there was an even greater connection between the art of sword swallowing and the history of medicine…

In 1868 Dr. Adolph Kussmaul (on the recommendation of his colleague, Dr. Mueller) carefully observed a sword swallower paying special attention to the way he positioned his head for the passage of a long straight sword. Impressed with what he’d witnessed, he then decided to examine the sword swallower himself.

“For this purpose, he had a local instrument maker fashion tubes 47 cm long and 13 mm in diameter, one being round and the other elliptical in design, the tubes fitted with conical wooden mandarins to facilitate insertion. Using the straight tube, mirrors and a gasoline lamp, Kussmaul inspected the esophagus and the fundus of the stomach, thereby performing the first successful esophagoscopy/esophagogastrostomy on a sword swallower.The sword swallower tolerated the long tubes well, but the examination was disappointing because the light was too weak to illuminate the field so far from its source. Also, despite washing out the stomach, fluid constantly collected around the tube and hindered the view. After considerable experimentation, Kussmaul and Müller managed to improve the light of their endoscope, and subsequently examined a number of patients. Kussmaul was so pleased with his success that he took the sword swallower with him to perform demonstrations in various clinics, and later enlisted other sword swallowers due to their ability to voluntarily relax the cricopharyngeal muscle and form a straight line from the pharynx to the stomach, allowing passage of the rigid endoscope. Today Kussmaul is recognized as being the developer of the first rigid endoscope.” – from the History of Sword Swallowing at

Those with or without Lynch syndrome who have benefited from the procedure we know today as endoscopy owe their thanks to a curious, ingenious doctor and a brave and willing sword swallower. “Down the hatch without a scratch!”

Here’s Lady Aye in action during an appearance on the show, “Oddities.”

And here’s Dan Meyer, President of Sword Swallowers Association International accepting the 2007 “Ig Nobel Prize” in Medicine with Dr. Brian Witcombe, Radiologist at Gloucester Royal Hospital, for their medical research on sword swallowing injuries. The collaboration between sword swallowers and medical researchers continues!

Notes: For more information about the research conducted by Meyer and Witcombe (and 46 SSAI volunteers) read this excellent Scientific American Article by Jennifer Ouellette. “By the Sword.”

The official declaration of World Sword Swallowers Day 2014 at SSAI

For more history on the art of sword swallowing go to

Wikipedia page for Dr. Adolf Kussmaul

More about my novel, The Virgin Cure



Skin Deep

January 20, 2014 in family history, genetic research, medical history by Ami McKay

Hair Follicle Triplet - by Dr. Alexander Meves

Hair Follicle Triplet – by Dr. Alexander Meves

A few years ago I had a mole on my left forearm that went rogue. My youngest son, who was only seven at the time was the first to notice the change. “That looks weird, Mom,” he said. “I don’t like it.”

I’ve always been a freckled, somewhat mole-covered individual, so I didn’t think much of his comments at first. Thankfully, the kid wouldn’t allow me to dismiss his observations. He leaned on me until I made an appointment to have it looked at by a professional.

The dermatologist agreed with my son. The mole was suspicious and needed to be removed and tested, immediately.

When the test results came back, I was given the diagnosis: “Melanoma in situ.” Translation: The mole was Stage 0. Abnormal melanocytes were found in the epidermis. These abnormal melanocytes could  become cancer and spread into nearby normal tissue. I made appointments for day surgery to have the surrounding tissue removed and to have a few other tests.

While I waited for the next round of test results, I beat myself up over the times my fifteen-year-old self had slathered suntan oil on my body and laid-out on the roof of the woodshed in my parent’s backyard. If I’d only known then what I know now. Stupid girl. No one cares that you didn’t go to Florida on spring break.

"Deep Impact" asteroid body, H&E stain, by Craig Roelke, M.D.

“Deep Impact” asteroid body, H&E stain, by Craig Roelke, M.D.

What’s that got to do with Lynch Syndrome?

While the discovery of my rogue mole and the subsequent diagnosis most likely wasn’t directly related to Lynch Syndrome, the experience did lead to my making annual visits with a dermatologist a priority. Once the doctor found out that I had Lynch Syndrome with the MSH2 mutation, he also began looking for outward signs of Muir-Torre Syndrome as well as suspicious moles.

What’s Muir-Torre Syndrome?

Muir–Torre Syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to be a subtype of HNPCC (or Lynch Syndrome). Individuals are prone to develop cancers of the colon, breast, and genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumours. The genes affected are MLH1, MSH2, and more recently, MSH6, and are involved in DNA mismatch repair. – from Wikipedia.

People with Muir-Torre syndrome are also at risk for developing certain skin changes in adulthood that may form in the sebaceous glands. The sebaceous glands are located just under the skin and produce an oily substance that is a part of sweat called sebum. The typical skin changes found in Muir-Torre syndrome are sebaceous adenomas, sebaceous epitheliomas, sebaceous carcinomas, and keratocanthomas. Most of these skin conditions are associated with noncancerous lumps on the skin, some of which are liquid-containing cysts. Basal cell carcinoma, a common type of skin cancer usually related to sun exposure, has also been reported in people with Muir-Torre syndrome. Only the skin carcinomas are cancerous. Muir-Torre syndrome is also associated with rare cancers of the sebaceous glands. If a cancer of the sebaceous gland is diagnosed, it is recommended that the patient talk with a genetic counselor or geneticist (a doctor with training in genetic diseases and conditions) that is familiar with the syndrome as part of his or her medical care. – from

In other words, if you’ve got Lynch Syndrome (specifically with the MLH1, MSH2, or possibly the MSH6 mutation) you should consider adding an annual  dermatological screening to your list of things to do.

"Party in the Papillary Dermis" - by Allison Arthur, M.D.

“Party in the Papillary Dermis” – by Allison Arthur, M.D.

Long ago, my mom had mentioned the possibility of Muir-Torre syndrome being part of our family’s medical history profile, but I’d only paid close enough attention to remember the name. When my dermatologist brought it up during one of my appointments, I finally began to put the pieces together. It’s easy to overlook the lumps and bumps of aging and dismiss subtle changes in your sebaceous glands etc. That’s why it’s so important to have a trained set of eyes on your body once a year. It’s my understanding that sometimes these changes come after CRC has arrived, sometimes in concert, and sometimes they act as a herald, a possible first sign that a tumour  is about to form inside the body as well as on the skin. The important thing to remember is that the research for MTS is ongoing and in some cases, suspected MTS may help lead to testing for Lynch Syndrome in those who haven’t been diagnosed.

I’m writing about Muir-Torre Syndrome here, not to give those with Lynch Syndrome yet another thing to fret over, (heaven knows life with LS can feel like an endless series of pokes and prods in the name of medical vigilance) but to give you another tool to add to your toolbox of awareness. For those of you with an unconfirmed but suspected history of LS, perhaps this post will help you shed further light in tracking hereditary cancer down in your own family.

Mind your lumps and bumps, people!


1. I didn’t post any images of the skin lesions associated with Muir-Torre Syndrome because I don’t feel comfortable making the leap between online images and self-diagnosis. If you have any spots, irregularities, growths or lesions on your skin that are suspicious, please seek the advice of a medical professional.

2. Excellent information about Muir-Torre Syndrome can be found here:

Muir-Torre Syndrome at

Full Wikipedia page on Muir-Torre Syndrome

Muir-Torre Syndrome (including a break down of associated skin lesions by type) at DermNet NZ

3. Artwork for this post came from a gorgeous collection of Dermatology Art curated by Mayo Clinic Dermatologists.  “Dermatology Art Shows Beauty Really is Skin Deep.”


I sing the body electric

January 3, 2014 in colonoscopy, coping, medical history, Uncategorized by Ami McKay


“grace” by Jason Thielke

Happy New Year.

There’s a blizzard raging outside my window right now, but I’ve got a fire roaring in the wood-stove and a hot cup of tea nearby, so this girl-in-a-snowglobe is doing all right. I hope you’re safe and warm and content for the start of 2014 and that you’ve got big beautiful plans for the year ahead.

In my usual New Year’s fashion, I’ve spent the last couple of days putting things in order and wishing on stars. Writing projects have shifted from dreams to outlines to full-on works in progress, and sticky note reminders of annual screenings have been converted into doctors’ appointments with dates and times scrawled on the calendar. (Dermatologist once over, end of January. Colonoscopy, the first week in February. Wheee!) There’s a lot to look after in my swirling TARDIS of a brain, and  I’m always searching for the best way to keep track of it all.

Rhythms and patterns and leitmotifs, oh my.

I learned to read music and the written word in tandem. It made for an interesting childhood, one where I was constantly searching for meaning in melodies, and for hidden patterns and rhythms within language. Even now it’s difficult for me to read through anything I’ve written and not obsess over the cadence of my work and the repetition of certain words and phrases. My journals are riddled with the words “hope,” “hopefully,” and the superstitious two word phrase nestled between asterisks, *touch wood.* (Strangely enough, I write that little charm far more than I speak it.)

As odd as it seems to obsess about such things, I’m thankful that my mind works this way. If it hadn’t been for my dedication to writing about my state of being (emotional and physical) on a daily basis, I’m certain I wouldn’t be as proactive as I am about my health.


“Prophetess” by Jason Thielke

Tracking Wellness

From a practical standpoint, it’s easy to see why keeping a written account of one’s health is a good idea. Notes on diet, medications, physical activity, physical symptoms, sleep cycles, pain locations and levels, emotional well-being, doctor’s visits, (and, if you’re female, your monthly cycle) are a valuable source of information for you and your healthcare team. On a broader scale, being vigilant about recording these stats on a daily basis will help you to see the bigger picture when it comes to your health. In as little as a week, patterns begin to emerge- some that may address questions you’ve been struggling for years to answer.

I simply make written notes in my journal alongside the rest of my personal scribbling for the day. Other options are to keep a separate health journal (either written or on your computer,) or to use a health tracking app on your smart phone or tablet. (A couple of apps that have been recommended to me include:  ihealth log, and symple – symptom tracker and health diary.)

"entwined" - by Jason Thielke

“entwined” – by Jason Thielke

Soothing the Beast

Allow me to add a few more words in favour of the written word. Apps are convenient, it’s true, and click-clacking one’s thoughts on a computer’s keyboard is easy and fast, but something more happens when you put pen or pencil to paper and let your thoughts flow through your body on to the page. Writing about one’s health often carries a lot of emotional baggage along with it. Guilt, confusion, worry, fear, anger, frustration are all part of the language of my condition. For me, writing by hand, especially when it comes to Lynch Syndrome, is akin to meditation. Once my hopes and fears are set before me, I’m free to address them in brave new ways.

“When you are writing something down with pen and paper, you are stimulating a collection of cells at the base of the brain known as the reticular activating system. The RAS is the filter for all the information your brain needs to process and it gives more attention to what your are currently focusing on. The physical act of writing brings the information to the forefront and triggers your brain to pay close attention.” (from “How Does the Act of Writing Affect your Brain?”)

This is especially true when it comes to dispelling anxiety. A study published by the University of Chicago in 2011 showed that “students who were prone to test anxiety improved their high–stakes test scores by nearly one grade point after they were given 10 minutes to write about what was causing them fear.” Senior researcher Sian Beilock also found  “that pressure–filled situations can deplete a part of the brain’s processing power known as working memory, which is critical to many everyday activities. Working memory is a sort of mental scratch pad that allows people to retrieve and use information relevant to the task at hand. But it is a limited resource, and when worries creep up, the working memory people normally use to succeed becomes overburdened. That can sap the brain power necessary to excel.”

In other words, writing through our worries and concerns leads us to a better state of mind, and as a result, to better lives.

How do you keep track your health?

Notes: This post included ideas and art from the following places…

ihealth log app

Symple – symptom tracker and health diary

How Does the Act of Writing Affect Your Brain? inforgraphic

Writing About Worries Eases Anxiety – University of Chicago

The gorgeous laser etched art of Jason Thielke


November 26, 2013 in colonoscopy, family history, genetic research, medical history, Uncategorized by Ami McKay

This Week in Tweets

This Week in Tweets

Introducing…”This Week in Tweets.”

Occasionally I find a tweet (or two or three or more) in my Twitter stream that I feel merits a discussion that’s longer than 140 characters. From time to time I’ll round them up (along with my thoughts) and share them on Mutant Me. Welcome to the first edition of TWITs!

Ever find the statistics for CRC (and related cancer) risk in Lynchies to be overwhelming and difficult to understand? I discovered this excellent resource while exploring tweets from “Cancer Risks in Lynch Syndrome” lays everything out on the page in a tidy set of statistics organized by mutation, cancer type, gender (where applicable,) and age. AND, as an added bonus, they list the most common symptoms of colorectal, endometrial (uterine) and ovarian cancers at the end of the report. Vital information in a simple format. Thank you Kintalk! (Oh, and follow the link at the bottom of that page to “Managing Lynch Syndrome.” It’s not to be missed.)

Stop Colon Cancer Now has put together a helpful Myths vs. Facts list for colon cancer. A few of the myths were new (and surprising) to me… “colon cancer is a disease that only effects Caucasian males” and “all methods for colon cancer screening are equally effective,” while others were myths I’ve heard far too often, such as, “a polyp means cancer,” and “if I have colon cancer it means I’m dying.” There are eleven myths in all, and they’re disproved/addressed with straightforward answers. If you’re more of a visual learner, then here’s a nifty video presentation of the myths and facts. Five and a half minutes sums it all up, and it’s easily shareable too.

Those of you not in Canada may not be familiar with the CBC Radio show White Coat Black Art hosted by Dr. Brian Goldman. The weekly program covers a diverse range of topics and aims to “demystify medicine.” I’ve listened to it for years and was especially interested in the episode that aired November 15th, since it dealt with the ways in which celebrities approach illness when it comes to their very public lives. While the program didn’t deal with Lynch Syndrome, it did take a very human and discerning look at  the way celebrities talk about illness. Dr. Goldman interviewed Dr. Michele Berman and Dr. Mark Boguski, the husband and wife team behind “Celebrity Diagnosis” a web site that not only reports on celebrity illness in the news, but goes a step further to bring awareness and information about those illnesses to the general public.

Their work reminded me of earlier this year when Angelina Jolie published her now famous op-ed “My Medical Choice” in the New York Times in which she wrote about her decision to undergo a double mastectomy based on her discovery that she carried the BRCA1 mutation. That opinion piece and the public discussions that surrounded it, prompted me to go back and take a closer look at my own genetic testing results and my risk for endometrial cancer. (I’ll write more about what came of that re-evaluation in the days to come.)

In honor of the holiday spirit and the fostering of family ties, I’m posting the above tweet. I really appreciated Michelle Healy’s piece Talking Turkey about Health in USA Today encouraging people to take the advice of Surgeon General Boris Lushniak this holiday season. “Eat well, but do so in moderation. Take a brisk walk after dinner to burn off some extra calories. And before the day is over, spend time with your assembled family members and discuss the diseases and conditions that make up your family health history. Sharing that information can improve and possibly save lives.”

The article even includes a list of first steps to take in gathering and recording a family medical history, as well as links to forms that will help you organize your data. Awesome!If you’ve read my first blog post, Daughter of Family G, you’ll know that in my family’s case, keeping track of our medical histories has, without a doubt, saved and enriched many lives.

Happy Holidays to all!


Daughter of Family G

November 14, 2013 in family history, genetic research, medical history by Ami McKay

I have moved all information about Family G to the Memoir page on my Author site. This is to avoid some confusion and make my life a little simpler.

Please visit it here.

Thank you,