AFA Lynch Association President — Maria Ricart

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Maria Ricart of The AFA Lynch Syndrome Association

I had the distinct pleasure of meeting Maria Ricart, the President of AFA Lynch Syndrome in Barcelona this past week. She is a four-time cancer survivor; yes, that’s right, four times! I can’t fathom enduring cancer once, let alone four times. She has endured uterine cancer — twice —  followed by colon cancer, and then lymphoma. FYI: lymphoma is typically not on the litany of the Lynch syndrome cancers. The good news is that she has been without cancer now for 6 years. You cannot help but fall in love with her as soon as you meet her; she is a very kind-hearted, warm, sharp woman, will impeccable taste in lavender colored fingerless gloves. The pic above is of her at a cafe she took me to on my first day in Barcelona.

I went to Barcelona for two reasons; to attend the AFA Lynch Syndrome Conference, but more importantly, to meet Maria in order to figure out how we can collaborate on a global level in regards to spreading Lynch syndrome awareness. We recognize that current methods of Lynch advocacy are not globally extensive and need to evolve tremendously; with the amazing technology we have today, there is absolutely no reason why we cannot do that. She and I share much in common and are on the same page regarding many of the issues surrounding Lynch syndrome.

I think discussing medical procedures and advancements at conferences is great, but truth be told, most laypeople don’t truly understand what the implications for such things entail. This is why is it is so important to seek out doctors who know more about Lynch than you and are at the forefront of the cutting edge research. You have enough to fret over without having to worry about if your doctor is performing the correct colonoscopy and whatnot. What differentiated this conference from others was the great amount of time spent on discussing the emotional implications of having Lynch syndrome; much of what was discussed are many of the emotions I frequently mention in my blog.

Muchas gracias for having me, Maria! You made me feel very welcomed! 

If you want to learn more about Maria’s Lynch Syndrome Association, please click here: www.afalynch.com

On a side note … UCSF is conducting a study on the effects of early menopause in BRCA + women who undergo prophylactic hysterectomies and oophorectomies. This is huge and I cannot wait to see what they conclude:

As part of the three-year trial, about half the participants will have chosen to have ovarian surgery. Beforehand, each will receive full physical examinations and then will be examined regularly afterward to monitor for early signs of cardiovascular disease as well as bone strength, and undergo various tests and screenings. In addition, each will be asked to answer questionnaires about their sexual and mental health.

The women who have opted not to undergo surgery will be monitored in the same way. So far, about 60 women have enrolled in the study.

Scientists say the research is important because they need to understand what risks these preventive surgeries and the premature loss of hormones have on developing osteoporosis or heart problems later in life.

“Women who undergo these surgeries to prevent cancer may be taking on risks … that could lead to perhaps a premature death from these non-cancer-related reasons,” said Dr. Vanessa Jacoby, UCSF obstetrician and gynecologist and principal investigator of the study.

They also want to understand whether premature menopause from surgery and its side effects differ from those experienced by women who naturally experience early menopause.

“We know that by telling them to do these surgeries, we save lives,” said Dr. Mindy Goldman, UCSF gynecologist and co-investigator of the study. “What we don’t know is how these surgeries affect other health outcomes.”

Please click on the link below to read the piece in its entirety.

http://m.sfgate.com/health/article/UCSF-to-study-early-menopause-vs-preventive-5899772.php

I’ve always said there are implications to removing such things as body parts, especially precious parts such as ovaries. We may be preventing cancer on one hand but are possibly subjecting ourselves to a host of other health issues. Looking forward to the results of this study. Perhaps the results of this study will be the impetus for better ovarian cancer screening measures, who knows?

Thanksgiving is this week in the States. I hope you have much to be grateful for … I know I sure do. And don’t forget to discuss your family medical history at dinner.

Click here for more information and help with this: http://www.ihavelynchsyndrome.com/family-medical-history/

 

Infinite love and gratitude out to my family and friends.

I don’t know what I’d do without you. 

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xogox

Getting into Mayo Clinic and The AFA Lynch Conference

Mayo-clinic-logoI speak to many people, every week, many of whom have been recently diagnosed with Lynch syndrome. The problem is that many of them have been tested without having a conversation with a genetic counselor. This is highly problematic for many reasons. Their doctors or oncologists do not have the time to go over the implications of having Lynch. Nor do they know or understand the emotional gravity of the situation and the number of other tests, which must be performed annually, in order to screen for Lynch syndrome related cancers.

Aside from blogging, I help people find genetic counselors who can assist them in their journey in hopes of keeping them as healthy as possible for as long as possible. I encourage those with good insurance and can afford to travel to visit places like Mayo Clinic where all of the necessary screening for Lynch related cancers may be done within a couple of days.

Some people say they do not want to take the time off of work to devote two or three days for testing and would rather do it over a period of time. You must do what works best for you; but in my opinion, if you can afford to get it all done at once and be given a clean bill of health, you will stress less. Besides, the “one stop shop” such as Mayo knows what they’re doing. You do not have to fret about whether or not you are properly being screened.

So how do you go about getting into places like Mayo Clinic, you ask? First of all, call them and tell them you have Lynch syndrome and that you would like to see someone who specializes in Lynch. Your doctor will determine which annual screenings are best for you following your initial consult. I see Dr. Boardman and her nurse, Sheila Buhler in Rochester, MN. I call Mayo up a couple of months prior to my due date for my annual screenings and tell them I need to come in for all of my tests. The appointment coordinator does her best to accommodate my schedule and tries to fit all of my tests within a couple of days. I do not have to tell them which tests I need, my doctor knows what needs to be done. For more information about Mayo Clinic, please go here: http://www.mayoclinic.org.

These are the tests which I have done annually:

  • Blood test
  • Urine test
  • CA-125 (I no longer have my ovaries)
  • Mammogram
  • Colonoscopy with blue dye
  • Skin exam
  • Endoscopy
  • Pelvic ultrasound
  • CT Scan of my chest due to elusive nodules in my lungs
  • and last time, I had a cystoscopy due to the presence of blood in my urine.

This litany of tests may vary depending on your family history, whether or not you’ve had prophylactic surgery, if you’ve already had cancer, which mutation you hold, and your doctor. But I do know that most of these tests are imperative for annual screening. If you are not comfortable with the screening protocol your doctor would like you to have, talk to them; if they refuse to budge then perhaps it’s time to find another doctor. Things like your annual colonoscopy are non-negotiable. 

If you need to find  a genetic counselor, I highly recommend you go the National Society of Genetic Counselors website at: http://nsgc.org/p/cm/ld/fid=164. It will assist you in finding a counselor nearest to you and they will most likely help you find the right doctors, medical institutions, and any other support you may need.

The one thing, which truly concerns me, is that globally, we are not on the same page regarding screening measures. This is highly problematic although not surprising considering we lack cohesiveness across the board on many things. Many people in other countries tell me they’re concerned they are not receiving proper care and that their doctors are not as vigilant as some of the other doctors who are highly knowledgeable about Lynch syndrome around the world. Many factors contribute to this, particularly things like cultural beliefs, social stigmas, different medical practices within countries, having to wait to see a doctor, having doctors who are ignorant about Lynch, the inability to see specialists, and so forth. If we are to truly committed to saving the lives of those with Lynch syndrome around the world then we must work together to change this.

I am in Spain this week for the AFA Lynch syndrome conference which will take place on Saturday. I am looking forward to meeting those who will be attending and hearing their perspectives on screening and other issues, which surround Lynch syndrome.

I am honored and flattered that AFA Lynch and Myriad Genetics wanted to include me in on this very important conference.

Much gratitude to both!

Cathedral in Barcelona, Spain

AFA’s Lynch is a fantastic organization and their mission includes the following:

  • Help advance research into Lynch Syndrome or HNPCC.

  • Disseminate and exchange the results of the very latest research in the field.

  • Contribute to reducing the psychological impact both at the moment of recieving the diagnosis and throughout the carrier’s life, supporting the creation and/or specialisation of competent healthcare professionals in this field.
  • Promote policies aimed at prevention and the regular and systematic surveillance of patients, as well as provide information about the different treatment options currently available.

  • Provide support and information to families including professional advicesurrounding these types of genetic illnesses.

  • Develop actions and activities for both lay and professional audiences to increase awareness and knowledge about the syndrome and how best to manage it.   

Please go to their site for more information: http://www.afalynch.com.

I will let you know all about the conference in a few days.

Yours,

G

Happy 12th Birthday, Nicholas!

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Happy 12th Birthday to my beautiful little man.

I’m so proud of the amazing, kind, loving, person you’ve become. 

You take my breath away. Every. Single. Day. 

I love you. I love you. I love you. 

xoMOMox

Book Review: Cancer is a word, not a sentence. And the Misinformed Melissa Etheridge

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I have read a lot of books in the past few years regarding genetic mutations, various cancers, stories of survivorship, etc., but think I have finally found the “Cancer Bible” in the book: Cancer is a word, not a sentence. If you have recently been diagnosed with cancer you should consider getting this book. The book came out in 2006 but I think it’s a fantastic guide for helping you get through your cancer journey — it helps one understand what to expect (for the most part) when they have been diagnosed with cancer. If you’re interested in purchasing it, Amazon has it used for under $3 plus shipping, please click here for the link: http://www.amazon.com/Cancer-Word-Not-Sentence-Practical/dp/B005GNM824. This book is written by Dr. Buckman, an esteemed medical oncologist, who has also written the book: What You Really Need to Know About Cancer.

Part one discusses, “What’s Going to Happen to Me Next?” and holds a discussion about what cancer actually is; Part Two, “What’s Treatment Like?” discusses the primary types of treatment: surgery, radiotherapy, chemotherapy, biologic agents, and the benefits of clinical trials; Part Three, “Isn’t There and Easier Way?” talks about complementary medicine; Part Four, “How Do I Get Back on Track?” deals with recovery and returning to some sense of normalcy after and during your treatment. This book also addresses a plethora of topics including dealing with nausea, religion, recovery, sexual issues, and many other topics which would be of interest to anyone going through the hells of cancer.

Part Five, “Do I Always Have to Have a Positive Attitude? talks about “the effects of the mind on the cancer process itself” and the literature to substantiate these claims. Part Six, “What Can I Do to Help Myself? encourages you to regain control in your life and to remind you that you are not alone in how you feel. There is vital information regarding drugs, tests, and procedures. Mind you again, this was written in 2006 and drugs, cancer protocols, etc., change but I think you might still find much of what is written to be highly helpful. The book also includes a list of trustworthy and reputable national organizations; it is a font of knowledge for those with cancer.

Interesting points from the book:

  • Cancer is not a disease, but a process. “That process is shared by over two hundred very different diseases — such as cancer of the breast, cancer of the lung, cancer of the bowel, and so on … most cancers actually have very little in common with each other, apart from sharing the fundamental cancer process.”
  • Cancers are a group of diseases that may require treatment at various stages of development.
  • The importance of receiving treatments such as chemotherapy and radiation on a rigid schedule are discussed due to the loss of efficacy and side effects.
  • The risk benefit analysis — important questions you must ask yourself such as: How much would a particular side effect affect or alter your quality of life?
  • Debunks many of the myths surrounding chemotherapy.

There are many other compelling points from the book but I will spare you further details because I want you to read it. I think this book is a great resource.

On a side note, AARP recently came out with a controversial piece on Melissa Etheridge where she discusses the BRCA mutation and her life since she was diagnosed with cancer almost 10 years ago. If you absolutely must read it, please click here: http://www.aarp.org/health/healthy-living/info-2014/sheryl-crow-melissa-etheridge-beat-cancer.html

Etheridge said: “I have the BRCA2 gene but don’t encourage women to get tested. ” My eyes began to bleed after reading that bit. And not too long after that, the #BRCA on Twitter was set on fire by the BRCA advocates. Why would one encourage women NOT to get tested for something which could possibly kill them? Easy for her to say but grotesquely irresponsible. She has gobs of money and a bevy of stellar doctors. She can pay for extraordinary care, regardless.

We know that having particular genetic information can be highly empowering for most people and that knowing whether or not you hold a crappy gene mutation can certainly affect your level of care. What truly irks me the most about the piece, yes, there is more but not worth mentioning, is that many of us would not be eligible to receive our annual screenings and tests without that little piece of paper stating we hold a deleterious gene mutation and that is why we — you know, women without the celebrity, and mountains of moolah — need genetic testing. Does she not know this?

Winter has officially arrived in Chicago. Baby, it’s cold outside. 

Be well,

xogox

Family Medical History

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Since the holidays are approaching and many of you will be spending this precious time with your family members, I thought now would be a good time to discuss collecting your family medical history.

A family medical history is a record of health information about a you and your family. It includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. If you have any information about great-grandparents then jot that down, too.

Families share many factors in common — genes, environment, and lifestyle which in turn may can give clues to medical issues that may run in a family. By noticing patterns of medical issues among relatives, your doctor or genetic counselor can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.

A family medical history can identify people with a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, hereditary cancers, and diabetes. These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices. Acquiring this information helps you to take steps to reduce your risk. If you are at increased risk for certain cancers, especially for those related to Lynch syndrome, your healthcare professionals may recommend genetic counseling and genetic testing. If you do hold one of the five mutations for Lynch syndrome or other hereditary cancers, more frequent screenings will start at an earlier age. Please note, even if you have a strong family history of cancer, lifestyle changes such as adopting a mostly plant-based diet, regular exercise, and not smoking help many people lower their chances of developing many diseases and illnesses.

A family gathering is an optimal time to discuss these issues — most people are together with their families and there are usually multiple generations present. If you’re lacking information within your family tree, documents such as obituaries and death certificates can help you fill in the gaps. It is important to keep this information up-to-date and to share it with your other family members and healthcare professional regularly.

Even if you know you have Lynch syndrome your family medical history information may be very helpful to you, your children, your grandchildren, and to the doctors caring for you. You may also gain insight into other medical issues which may affect your family.

The National Society of Genetic Counselors has a great resource for us to help with this process; please click on the following links:

http://nsgc.org/p/cm/ld/fid=143 

http://nsgc.org/p/cm/ld/fid=52

If you find these resources too difficult to use, try this other template:

http://www.docstoc.com/docs/135934622/Medical-History-Form—Emergency-Medical-Locatorsxls

In the meantime, I have been scouring the Internet for some tasty vegan recipes for the holidays and thought I would share some which I came across:

http://www.foodandwine.com/slideshows/vegan-christmas-recipes/1

http://www.nytimes.com/projects/well/vegetarian-recipes/#home   FYI: they put this out every year, the recipes are simple and amazing!

Vegan holiday recipes on Pinterest: http://goo.gl/L6GPkK.

Hope you’re all doing well — eating loads of plants, exercising and nourishing your inner child.

Happy Halloween to all of yous!

Go easy on the candy this weekend.

xogox

Knowledge is Not Always Power

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I was participating in a conversation on a Lynch syndrome platform on a social media site, not too long ago where a woman with children had recently been diagnosed with Lynch syndrome. She was questioning a group of people, basically strangers who share her genetic nemesis, about whether or not she should have another child because of her Lynch syndrome + status. For those of you new to this blog, Lynch syndrome is an autosomal dominant mutation.

What I particularly love (not really, not so much) are the assumptions that most people make about others, especially when they do not know crucial factors, which are necessary to make thoughtful, educated comments in regards to Lynch syndrome; specifically, things such as education level, socioeconomic status, cultural and religious background, and other important factors which may contribute to one’s person and situation. I am terribly afraid that we all do not (unfortunately) share similar resources. Furthermore, many people simply assume that others share their religious convictions – I’m all about supporting things which “get you through the day” be it a strong belief in a Supreme Being or putting on lipstick (pucker up and apply!) before prophylactic surgery so that you may channel your inner feminine goddess, but please do not assume we all share your belief system.

I detest clichés, especially when it comes to genetic mutations and I want people, especially those within the Lynch community to know that knowledge is NOT power for everyone; Lynch syndrome CAN be a death sentence for some even when they know they hold the mutation and have been vigilant with their screenings. Things are not so black and white in the world of Lynch syndrome; there are various shades of grey we must consider. There are people who have been vigilant and have been religiously screened and still, for some reason unbeknownst to many of us, are dying of cancers related to Lynch syndrome.

Lynch syndrome is a difficult diagnosis to reconcile, especially when young children are involved. At the risk of sounding controversial and provocative, some of the conversations on various Lynch syndrome platforms are not based on logical thought but rather on emotions. I have a problem with this for two reasons. For one, there is enough misery in the world and if we have the power stop it (in this case, knowledge of a Lynch syndrome mutation can be empowering) because we may assume some control over perpetuating these familial cancers, then we should. My apologies in advance if you do not agree with this. If you can afford it, then I highly recommend you explore preimplantation genetic diagnosis (PGD) — a costly procedure used prior to implantation to help identify genetic issues within embryos created through in vitro fertilization to prevent certain diseases or disorders from being passed on to the child. For more information regarding this procedure, please go to: http://www.reproductivefacts.org/topics/detail.aspx?id=1674

Then, there is always adoption, although some may argue there is also a high level of uncertainty involved there, too. Regardless, in my humble opinion — if you have a deleterious gene mutation it should give you tremendous pause about your life, and that of those you are considering of bringing into this world. And do yourself and your future children a favor — do not base major life decisions on potential, future scientific advances.

Second, some people are highly inconsistent in their thought processes. They complain about how horrible their cancer is, or was, and in many cases, how it has ruined or has been a source of immeasurable grief in their lives, and go on to to tell us how their greatest source of misery is knowing the may have unknowingly passed this mutation onto their children. Yet, these horribly awful and negative situations do not give them pause, especially when it comes to advising others about reproduction under the pretense of having a deleterious gene mutation.

Third, then there is the issue of those who are not white with middle-to-upper class financial resources – where are those with Lynch syndrome who are marginalized? How many African-Americans and Latin and Hispanic-American people do we actually communicate with on these Lynch platforms? Not too many. Why? Because many of them are less likely to seek genetic counseling, genetic testing, and have access to medical specialists such as oncologists – they are less likely to know they have genetic mutations because they simply do not have access to these resources which may potentially save their lives. We need to change this and tailor advocacy efforts to specific groups. Please read: http://www.ihavelynchsyndrome.com/book-review-waiting-cancer-come/#.VEkwmku52GI for more on this topic.

There are a few other points which must be shared — one woman recently told me she did not want her daughter to read my site because she was afraid it would prevent her from having the recommended prophylactic hysterectomy and oophorectomy because of my negative experience with surgical menopause at 40. Please note, it is not my intention to discourage others from undergoing these procedures; I just want people to be aware of the implications of such things (like removing ovaries) and to recognize the further away from menopause you are when you undergo such surgeries, the more difficult it may be for you to adjust. My doctors minimized what would happen to me; I know my words resonate with many, many people because of the emails I receive. Many are grateful for my ability to articulate what they feel; but mostly, they are happy to know that they are not alone in the Lynch labyrinth and that others share their darkest thoughts.

I read something recently which really disturbed me because it is a testament to the fact that some with Lynch do not understand the laws of inheritance in regards to this particular mutation. Dominant inheritance means an abnormal gene from one parent can cause disease, even though the matching gene from the other parent is normal. The abnormal gene dominates. Each child’s risk is independent of whether their sibling has the disorder or not. For example, if the first child has the disorder, the next child has the same 50% risk of inheriting the disorder. Children who do not inherit the abnormal gene will not develop or pass on the disease. In other words for those of us with Lynch, EACH ONE of our children has a 50/50 chance of inheriting the mutation; it is incorrect to believe that only “half” of your children are at risk of inheriting this mutation.

Hope you’re all doing well and enjoying the beautiful fall. Be sure you’re eating all the nourishing, amazing foods available this time of year. More later.

xogox

Empower Yourself: Updates on Lynch Syndrome, FAP and Familial Colon Cancer — University of Michigan Conference

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In Michigan this past weekend — of course I managed to find a scarecrow amongst the Halloween decor in downton Plymouth wearing a genetic testing labcoat….

Empower yourself…

Well, I’m back from a much-needed break from the blog. September is traditionally a difficult month me due to the number of death anniversaries in it so I thought it would probably be best to keep my darkness to myself after my last post. Yes — I , too, get depressed and occupy some pretty dark places at times. But my little break from the blog allowed me to do some other things and read — this time away gave me tremendous positive perspective about my life and living with Lynch.

Last weekend I attended the Empower Yourself Conference at The University of Michigan and had an opportunity to speak to the many of the Lynch and FAP patients who attended. Lisa Sylvest, RN, who also has Lynch syndrome, organized the event and did a stellar job! I’ve been to quite a few of these things but this one by far was the best one. The University of Michigan has a fantastic team of doctors who are highly knowledgeable about Lynch syndrome and FAP. I had the distinct pleasure of meeting the Director of the GI Colon Cancer Genetics Program, Elena Stoffel, MD, MPH. If you live in Michigan and need to doctors who know all about Lynch syndrome or FAP, please go to http://www.med.umich.edu for more information.

Lisa actually emailed me yesterday and asked that I share a great article with you:

Adopting Several Healthy Behaviors Cuts Bowel Risk: 

http://www.scienceworldreport.com/articles/17893/20141010/adopting-several-healthy-behavior-cuts-the-risk-of-bowel-cancer.htm.

I loved the intimacy of the conference and the panel of doctors who took the time to talk and answer questions. The food was also pretty damn good – it was healthy and a lot of it was vegan! I had the privilege of meeting many amazing, kind souls, mostly patients who are seeking information on what is required for Lynch syndrome and FAP screening.

Major points from the meeting; genetic counseling is imperative for those undergoing genetic testing; meticulous screening measures are highly helpful in preventing/detecting cancer early and prevention is definitely key; a healthy lifestyle, sans smoking, full of nutritious foods coupled with exercise is an absolute must. The biggest problem in the medical community is that GP’s and gastros are still not up to speed regarding Lynch syndrome screening – Lynch syndrome is solely not about colon cancer as we are at risk for a dozen of cancers and must have annual screening for these various cancers. 

There are a few other things I wanted to share with you. On Facebook I have discovered the most adorable and positive Buddhist cartoons. One is called Buddha Doodles https://www.facebook.com/BuddhaDoodles and the other is called Dharma Comics: https://www.facebook.com/BuddhaDoodles. You don’t need to be a Buddhist to appreciate these bits. I love the simplicity of the drawings along with the positive, endearing messages.

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10580671_701759259905024_4541701701965901565_oOne more thing, it’s time every one of yous all start eating more plants and less creatures with faces. So in order to inspire and encourage you, I urge you to check out Thug Kitchen (http://www.thugkitchen.com) — a site I blogged about awhile back. The two vegans who created the site have come out with an amazing vegan cookbook, chock-full of simple, of what look like to be yummy vegan recipes, infused with profanity. It’s progressive, funny, and entertaining and not for those who are easily appalled. I just received my book yesterday and will try out the recipes; I’ll be sure to pimp out the ones I like the best on the blog.

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Hope you’re all well, nourishing yourselves and keeping positive. I’ll be back to blogging twice a week, next week.

xogox

Survivor Guilt

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Survivor Guilt…

I had lunch with my brother in the cemetery the other day; he was uncharacteristically quiet, he’s not much of a conversationalist these days. I suppose death does that to you. He died 19 years ago from colon cancer due to Lynch syndrome at the age of 36. He left behind an 8-month-old baby girl and his wife. Most of his young life was difficult; he endured countless beatings from our father and left home at 18 to join the military in order to get as far away from our dysfunctional home. He was the apple of my mother’s eye; he stood at 6’5 – he was larger than life and had the personality to match it. He was an extraordinary mathematician, juggler, storyteller, and had a heart of gold. We had our moments – but the last 3 years of his life he realized how similar he and I were in comparison to other family members and he became to appreciate that; we became closer and would talk religiously on the phone. Whenever he had a call to make in Chicago for business, he would make it a point to come and see me.

When he diagnosed with his terminal colon cancer, it was highly difficult for me to wrap my 24-year-old head around it. He would be the third close family member to die within 15 years. My Mother in 1980, my father in ’92 and then Jimmy, in ’95. It took me a long time to reconcile his death — I had horrible nightmares for years of my teeth falling out; elephants being killed in my backyard whilst their babies cried at their sides, and all kinds of other bizarre death related nightmares. His death also brought up issues which I failed to deal with in regards to my Mother’s death; I was grieving the loss of the two people who championed for me most in this life. After much therapy and time, I eventually came to terms with my brother’s death — until I was diagnosed with Lynch syndrome.

As I sat in the cemetery the other day, I thought about the enormous sense of survivor guilt I hold. Questions such as: “Why him and not me?” and “Why, why, why?” emerged. It would have made more sense if the universe was in dire need of dead souls to take me; I had no spouse, no child at that time. My life lacked purpose, I had no responsibilities. But that is not how it happened. I’m not the only person with Lynch syndrome who feels this way. Many of us have lost parents, siblings, even children and yes; many of us have tremendous survivor guilt as a result. What does one do with this guilt? And can we turn it into something positive?

So for the past 3.5 years his death has taken on a new significance in my life; it fuels my advocacy efforts for Lynch syndrome. I don’t want anyone else to experience the hells of colon cancer or any other Lynch syndrome related cancer and the assortment of issues, which surround them. I feel this unrelenting desire to increase Lynch syndrome awareness rather than participating in the ostrich effect – otherwise known as burying one’s head in the sand. My advocacy includes writing for this blog, other sites, increasing awareness for Lynch syndrome, colon cancer, and other hereditary cancers on various forms of social media and talking to newly diagnosed Lynch + people. I am on the committee for The Hereditary Colon Cancer Foundation and collaborate with other colon cancer foundations to help them as much as I can. I encourage others to seek genetic testing for most syndromes, taking preventative measures for good health, and encourage annual screenings for Lynch syndrome related cancers.

Writing about Lynch syndrome has been very cathartic for me and has enabled me to come to terms with the diagnosis. Whilst at the same time, it has given others tremendous insight into the world of Lynch syndrome, the emotional implications of genetic testing, and a plethora of other issues which besiege this type of diagnosis. This blog has evolved tremendously since it began two years ago; in order for it to continuing doing so, I am taking a little break for the next few weeks in order to tap into my creativity and to figure out my next steps.

Please note — you may use the magnifying glass on the upper right side near the social media icons to search specific topics of interest to you.

One more thing; The University of Michigan is having a conference next month on 10/11/14 entitled:

Empower Yourself: Updates on Lynch Syndrome, FAP and Familial Colon Cancer

I will be there on the panel discussing the emotional aspects of having Lynch syndrome. Please click on the link below for more information. I hope to see you all there!

http://www.med.umich.edu/intmed/cme/courses/UMlynchconference.htm

Hope you’re all well and nourishing yourselves.

 

Yours,

Georgia

Jimmy 9/11/1995

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Jimmy died 19 years ago today from colon cancer due to Lynch syndrome.

His death fuels my advocacy efforts.

Book Review: Waiting for Cancer to Come by Professor Sharlene Hesse-Biber

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Waiting for Cancer Come: Women’s Experience with Genetic Testing and Medical Decision Making for Breast and Ovarian Cancer was written by Sharlene Hesse-Biber; a Professor of Sociology and Director of Women’s Studies & Gender Studies Program at Boston College in Chestnut Hill, Massachusetts. Her book is timely to review, especially since September is Ovarian Cancer Awareness Month. I read, and read, and read; constantly, looking for vital information, which gives me a different perspective and teaches me new things on genetic testing, other genetic disorders, and life in general. Reading medical journals is great and all but I love reading actual books where the author has first hand experience with the topic being discussed – she is a breast cancer survivor. Books provide me with a deeper understanding that things, which besiege that issue, are not necessarily so black and white; various shades of grey emerge.

The book discussed the dilemmas, hopes, and concerns of 64 women who undergo genetic testing for the BRCA mutation. These are the major points I’ve extracted from the book:

  • The “one size fits all” approach should not apply to those who require genetic testing; genetic testing situations are as diverse as the individuals who undergo it.
  • Many factors determine whether or not someone gets genetically tested, but mostly, a sibling or parent’s cancer narrative usually determines if one gets tested.
  • Life for people after genetic testing for BRCA is not the same; I can safely say the same for most people with Lynch syndrome — this information can transform one’s life and it’s not always positive.
  • Currently, genetic testing offers tests for 1,200 different diseases.
  • The book discusses the provocative politics behind the practices of some genetic testing companies and the implications for when a genetic testing company refuses to share genetic information from diagnostic tests. It basically prevents other scientists from making progress in furthering research and possibly saving lives.
  • The book raises interesting questions regarding the ethical responsibility of genetic testing companies; for example, where does their involvement in order to help someone reduce their risk of developing cancer stop? What kind of resources does that genetic testing company offer a patient for emotional support or for further information?
  • The book includes the plethora of reasons why some people won’t get tested include: employment or insurance discrimination, emotional or psychological damages, poor reactions from family members, and the uncertainty of a false-positive test result.
  • The book addresses the issues when a genetic testing company markets a genetic test to general practitioners instead of using a genetic counselor; these doctors usually have very little experience with cancer and genetic counseling, which in turn may leave a patient in limbo with their diagnosis along with a high level of uncertainty and anxiety.
  • She reinforces the importance to meet and have your testing through a genetic counselor; they are highly capable of interpreting your results and then will guide you through your next appropriate steps.
  • This notion of “knowledge is power” is not entirely true – many genetic testing companies do not provide patients with the resources for patients to medically empower themselves after testing. Again, this is why it’s important to see a genetic counselor.
  • Genetic testing can often lead to isolation and stigmatization within a family and therefore it’s not always a beneficial. This has been the case within my own family.
  • Women with HBOC who have a desire to have prophylactic surgery tend to marry earlier and have children sooner.
  • Most women get genetically tested simply to “beat” cancer. Well, I know I did, in hopes of beating ovarian cancer.
  • Countless circumstances determine whether or not a woman will undergo testing: age, children, employment, ethnicity, and education level; most women do it for their families, specifically their children – they want to be around for their children. At the same time, they hold tremendous guilt for unknowingly passing this onto their children.
  • Various cultural influences play a role in a decision to get tested; for example, some Orthodox Jewish fathers prefer their daughters do not undergo genetic testing prior to marriage; Jewish law mandates that women should only “seek knowledge” if she capable of dealing with it.
  • When one woman within a family tests positive for BRCA, many other female members of their family are more likely to be tested.
  • Who gets tested? 90% were Caucasian, 80% identified themselves as middle-class, and none of them deemed themselves lower class; the socio-economical disparities and genetic testing amongst women is appalling.
  • Women who are not white, well-educated, and well-off are less likely to be tested. Poor women are less likely to receive genetic counseling, good medical treatment, and visit oncologists.
  • Some women find their diagnosis to be the impetus for them to make serious changes in their lives; for example, one woman decided to get that much-needed divorce which she had been putting off for so long. Some feel if their time is limited then they should make the most out of it and be happy as possible.
  • If someone has not seen someone die of the cancer within their family which they’re possibly at risk for, it can definitely negatively affect their decision making process in regards to genetic testing and prophylactic surgeries.

I could go on and on with the salient points of Waiting for Cancer to Come, but I won’t because I want you to read it. Professor Hesse-Biber does a remarkable job of discussing the various issues which influence how, why, when, and who gets genetically tested and takes prophylactic measures to prevent malignancy to their organs. The one thing I wish she had gone into greater detail about was forced menopause at an early age and the hells, which may follow it. She does not emphasize this enough. But my beloved Mick Jagger reminds me of the fact, “You Can’t Always Get What You Want!” Kudos to her for mentioning BRCA in men and how the removal of body parts (in this case, of breasts) can make a woman feel defeminized; something which I frequently discuss as a result of my oophorectomy. The bottom line: most women are ill-prepared for these prophylactic surgeries, the conversation regarding genetic testing, and that genetic testing for mutations need to be more inclusive of various groups — the voices of the marginalized need to be heard, too. I highly recommend this book to doctors, genetic counselors, advocates, and any one else interested in truly understanding the complexity behind the variables of genetic testing. Though this solely focuses on BRCA, many of these observations are relevant and mirror many issues regarding other deleterious gene mutations.

The book may be found at: http://www.amazon.com/Waiting-Cancer-Come-Experiences-Decision/dp/0472052195. It is a great book to add to your hereditary cancer collection and use as a reference.

One more thing, I think everyone in the advocacy world is doing wonderful things and all involved should be applauded for their unique efforts regardless of how those efforts may occur; people ask me why do I think the BRCA community has been so effective about raising awareness. The answer is because they are bright, educated, and support each other, regardless of their differences. I wish more people within the Lynch community and colon cancer communities would take note and do the same. We all have the same goal to raise awareness, to encourage people to seek genetic testing, and to save lives; we would be far more successful at achieving our goals by presenting a united front.

Yours,

Georgia

 

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