previvor

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 Facingourrisk.org “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)

 

 

 

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 Cancer.net

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!

NOTES:

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 Cancer.net

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.”

 

TWITs

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 Kintalk.org. “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

dna

dna

In 1895 Pauline Gross, a seamstress in Michigan confided in Dr. Aldred Warthin, “I’m healthy now, but I fully expect to die an early death.” Warthin, a pathologist at the University of Michigan took her words to heart. Rather than dismiss her confession as the worried notions of a fretful young woman, he chose to see her prediction as one that was based upon the astute observation of her family’s medical history. Far too many members of Pauline’s family had died from stomach, colon and endometrial cancers. The seamstress was only doing what she did best, minding the details.

While her prediction sadly came true (she died of cancer at an early age,) Pauline could not have known how far her conversation with Dr. Warthin would reach into the future. Through the years her words would be carried by members of her family and medical researchers alike, to one day become an important part of the history of genetic testing.

I’m proud to be a part of Pauline’s family tree and a member of the group Dr. Warthin would name in his research, “Family G.” Research that would one day fall into the hands of Dr. Henry T. Lynch in his search to assemble the pieces of the genetic puzzle known as HNPCC, or Lynch Syndrome.

Between 2000 and 2002, I wrote and produced a radio documentary for the CBC called Daughter of Family G. The piece recorded the path I took in making the decision to undergo genetic testing. So much has happened since then. I never could have imagined that I’d have traveled so far in such little time, both physically and emotionally. Peering into my DNA changed my life.

As you might imagine, it caused me to take an immediate inventory of my health. I became vigilant about making doctor’s appointments and setting up annual screenings. But the results also infused my life with a curious sort of fearlessness. I’d watched my mother battle colon cancer and wondered where her strength and courage had come from. Finding out that there’s an enormous potential for a battle of my own one day, I decided to tap into that vein of strength sooner rather than later. While I try not to feel that cancer is inevitable, I do feel that putting things off is no longer an option. This goes for everything in my life, especially my writing.

Mathilde Gross Wheeler

Mathilde Gross Wheeler

That’s my great-grandmother, “Tilly” in her wedding dress – a dress that she and her sister, Pauline fashioned together before Pauline died. They were part of a vibrant, well-known trio that also included another sister who was a milliner. Their skills as seamstresses were often in demand and that’s how Pauline came to know Dr. Aldred Warthin. He respected her artistry and her intelligence, and she felt compelled to confide in him her concerns about her family’s medical history and her fate.
Whenever I think of hesitation, of saving my imagination and concerns for another day, I think of Pauline.
Share yourself – your soul, your hopes, your dreams – it can change lives and possibly the future.

I hope you’ll listen to the first part of my journey in the podcast Daughter of Family G


Read Dr. Lynch’s 2010 account of the history of Lynch Syndrome (from Pauline’s conversation with Dr. Warthin, to contemporary findings) in Historical Aspects of Lynch Syndrome.