Knowledge is Not Always Power

Multiracial Hands Making a Circle

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://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/.

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….

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

 

The Hereditary Colon Cancer Foundation

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Since the ALS Ice Bucket Challenge has gone viral, many of you have asked me which organization you should donate to in order to help raise awareness for Lynch syndrome. My personal favorite organization is The Hereditary Colon Cancer Foundationhttp://www.hcctakesguts.org. While their main focus is on hereditary colon cancer, they do offer a lot of vital information on Lynch syndrome and are helping with awareness on other Lynch related cancers. ‪Travis Bray and ‪Shawnie Bray, who run the foundation, are wonderful, loving people who truly care about others – I am truly honored to call them my friends. Many of you also want us to come up with our own challenge for Lynch syndrome and so I am in the process of thinking about what we can do to raise more awareness. I’m hoping to come up with something very clever, very soon.

In the meantime, I’m trying to enjoy the last days of summer in Chicago. I have been practicing what I’ve been preaching to all of you and have committed myself to a rigorous exercise program with my trainer. She is kickin’ my ass into better shape…actually, it’s more for my upper body; lots of kettle bells, squats, punching the bag, push-ups, interval training, and all kinds of other crazy stuff. I must admit, it’s working and people are noticing a difference in my appearance. I hope you’re all making a concerted effort to make time for your well being and making stellar food choices.

I’ve also been trying to catch up on my reading and am also working on a piece for a cancer prevention organization which I am very excited about – I will let you know when it gets published. I hope to collaborate with them in regards creating more cancer prevention awareness, but more about that later. In the meantime, please go to http://www.hcctakesguts.org, show them some big love and obscene generosity and make a donation to help them raise awareness for Lynch syndrome and other hereditary colon cancers.

And she’s off.

xogox

 

Stellar News of the Day! University of Bridgeport Professor Targets Lynch syndrome!

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University of Bridgeport Professor Targets Lynch syndrome!

By:  Posted date: August 25, 2014
Prabir Patra, director of biomedical engineering at the University of Bridgeport, and Manju Hingorani, a professor of molecular biology and biochemistry from Wesleyan University in Middletown, are developing diagnostic technology that uses tiny sensors to detect Lynch syndrome as early as possible. Their work is funded by a $324,125 research grant from the Connecticut Department of Public Health that was awarded to Wesleyan. The University of Bridgeport was subawarded $149,152.

Lynch syndrome is a genetic disorder that increases the risk of colorectal, endometrial and other cancers.

Patra, who is also an assistant professor of mechanical engineering at UB, said it is “extremely important” to diagnose the disease early. About 150,000 patients are diagnosed with colon cancer in the U.S. per year; of that, one in 35 has LS, and three or more of their relatives are at risk for the disorder, or roughly one in 500 Connecticut residents.

Current validated tests for the disease have limitations that lower their feasibility and widespread use in screening at-risk populations, UB said in a statement.

“How might DNA mismatch binding and signaling assays be transferred to nanoscale surfaces for greater sensitivity and ease of detection?” said Patra.

“This question has a significant implication for colorectal and other cancers. My group, as well as professor Hingorani’s team from Wesleyan, is excited to develop a biosensor device that can advance the current standard of care by diagnosing such cancers way in advance.”

“Our hypothesis is that the core functions of MMR proteins can be measured directly, quantitatively, rapidly, reliably and at clinically relevant protein concentrations on a nano-structured surface,” Hingorani said.

Source: via http://westfaironline.com/65118/university-of-bridgeport-professor-targets-lynch-syndrome/

Inheriting Lynch syndrome From An Abusive Parent

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Inheriting Lynch syndrome from an abusive parent can significantly impact how we view our situation and may occasionally fuel our resentment towards that parent. It’s not easy for some of us to just “live life” and “be happy” knowing we inherited Lynch syndrome from an abusive parent – some days are more challenging than others. I know I’m not the only one in this world who feels this way and this is why I am writing about it.

Through my observations on Lynch syndrome social media platforms, it seems to me that those who inherit this from a parent with whom they have had a good relationship tend to deal with the Lynch diagnosis much better than those of us who have had poor relationships with that parent. There are reasons for this: the “good” parent will often acknowledge that the are sorry for unknowingly passing this on, they are able to provide emotional support to their adult children, occasionally the adult child can be somewhat consoled by their parents during moments of great uncertainty, and the parents seem to be highly involved in their adult child’s medical affairs.

One of the greatest challenges I have had to reconcile is the fact that I inherited this horrific mutation from my father; a man who emotionally neglected and abused me for the first 18 years of my life. He died from cirrhosis of the liver in 1992 due to his alcoholism; not from a Lynch syndrome related cancer. He had colon cancer when he was in his 40’s and managed to survive cancer-free for 30+ more years in an alcoholic fog. The mental abuse I endured as a child, especially after my Mother died when I was 9, had profoundly affected my being and I spent years trying to nourish and love that little girl who was neglected not only by my biological father but by the rest of my family as well.

My siblings were all much older and were out of the house soon after Mom died. My father was the typical alcoholic: when he wasn’t rendered unconscious on the kitchen floor from his copious consumption of whiskey, he was unpredictable, unloving, uncaring, explosive, and verbally abusive. I was constantly walking on eggshells around him. Nothing I did was ever good enough. I was never smart enough, pretty enough, or “anything” enough for him. He was critical, judgmental, angry, and could never see the positive in anything; as far as he was concerned I possessed no redeeming qualities. He annihilated any self-esteem my Mother was able to instill in me in my 9 short years with her. My life included a constant, high level of uncertainty and fear, without any biological family support.

I tried hard to please my father for many years. I was a good kid with stellar grades until sophomore year when my anger towards my father and family finally emerged – it was then when I found my voice and starting fighting back at him and them; I became a rebel. I became a product of my dysfunctional environment and acted out in several ways. I became the “bad” child, which only furthered fuel the fires of family dysfunction and my father’s alcoholism. I was left to fend for myself as my pleas for help from them were ignored. I suppose they had had their share of misery from him and just didn’t want to be bothered with my issues but at least they had my Mother and each other for support. I had no one but myself until I met my best friend Jennifer in high school, and then her parents — Jim and Jane; they would eventually become my “second set of parents” – I would not be here today if it were not for them because they managed to dismantle the downward spiral I was hell bent on spinning on.

Jim and Jane taught me that I had to take responsibility for my life and do the best that I could with what little I had. I moved away at 18 to another state and started fresh. When my biological father died in 1992, I tried to bury the negative feelings I had towards him when we put him in the grave. I never mourned him, I mourned and grieved for the biological father I never had or deserved. A few months following his death I ended up back in Chicago and managed to put myself through school and then finally met a wonderful man who would become my husband and the father to our beautiful son. Life was looking up for me and I was finally letting go of my past and appreciating the good things that were happening. Several years passed and I had finally achieved happiness even though the majority of the ties to my biological family had come undone. Then my brother, who religiously ignored my pleas to get frequent colonoscopies, got colon cancer at 48. Six months later, the cancer returned and that is when his doctor suggested he be tested for Lynch syndrome and this is how I discovered that I, too, hold the mutation.

My brother lost his entire colon and not long after that, I reluctantly gave up my reproductive organs at 40. This in turn held all kinds of horrific, hellacious negative implications for me. In my mind, my father still had this grotesque ability to abuse me from the grave. He lives on in me through this horrendous mutation, which I may have unknowingly passed onto my little boy. Removing my reproductive organs, specifically my ovaries, has held significant emotional and physical negative implications for me. My father emotionally raped me on so many levels throughout my childhood; in death he managed to pilfer me of my femininity – I feel tremendously defeminized as a result of the removal of my ovaries. I may have prevented cancer to my reproductive organs but it was done at a significant cost to my emotional and physical well-being. I am not the same person I was before my diagnosis. I am not the same woman I was before the diagnosis.

Lynch syndrome destroyed the final vestige of my biological family – the relationship with my brother, with whom I share this charming mutation. But in all honestly, the lack of connection has brought me much needed solace. He has his own mountain of challenges to deal with and I’m not interested in contributing to them. I wish him well and peace.

I try very hard to make vodka lemonade out of the lemons life has thrown my way and some days it’s much easier to do than others. My second set of parents, Jim and Jane, have been instrumental in my emotional evolution; they paved the way for me to become a strong, resilient, loving, caring woman. They are the parents I believe I was meant to have; their unwavering love and support for me over the past 30 years has been has carried me through the most difficult times of my life and I am forever grateful to them. They make up for what I lack in biological ties and I am exceptionally fortunate to have them; I wish every orphan out there had exact replicas of Mom and Dad to compensate for what their families failed to or were unable to give them.

I talk to others who are Lynch+ who tell me they were abandoned or abused by the parents who passed Lynch syndrome onto them and how alone they feel as a result. I try to be a pillar of hope, love, and inspiration for many people, especially to them. Please know that you are not alone. I am always a phone call away if you just want someone to listen to you. Try and focus on the many things you have to be grateful for and remember that you have more power over your destiny as an adult than you did as a child. Your abusive parent(s) should have taught you a tremendous lessen; they taught you exactly who you do not want to be. 

Here is a beautiful picture of my Mom, Dad, and son last week in St. Louis. They are all the embodiment of love and happiness; I am so grateful that my son has the privilege of having such wonderful Grandparents in his life.

 

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Forgive others, not because they deserve forgiveness, but because you deserve peace. -Unknown

xogox

This post is dedicated to Maria Ostling who continues to inspire me, encourage me, and support my advocacy efforts. I love you, Maria. 

10 Reasons Why Genetic Testing is Important

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By Sarah Witherington, Genetic Counselor

So in my previous blog posts we have discussed what genetic counselors are, what genetic counselors do, why genetic testing takes so long, and about a few other genetic diseases, but we haven’t really talked about why genetic testing is important.  Or I guess more accurately, because genetic counselors are always concerned with being extremely accurate, my opinions on why genetic testing is important.

1.Genetic testing can help determine your course of treatment. Genetics is the “final frontier” in the medicine world, to steal from Star Trek and use my best William Shatner impersonation.  So what do I mean by final frontier? Remember genetic testing for many genetic diseases hasn’t been around very long and genetic counselors have only been around since the 1970’s. This is probably one of the newest fields in medicine and one of the most promising. We are creating new treatments based off of what gene is mutated and even treatments that are specific to the exact mutation within a gene particularly in cancer treatment. That means genetically tailored chemotherapies that are specific to your tumor. And in the pediatric world, we have treatments for children with cystic fibrosis, a debilitating and often deadly lung disease that only works for children with specific mutations in the CFTR gene. This is the world of genetically personalized medicine and it’s already here in your clinics and hospitals.

  1. Genetic testing can help you determine your surveillance plan or your prophylactic surgery path.  Example: you have a family history of Lynch Syndrome, which means you should begin colonoscopies starting your 20’s or 5 years prior to the earliest diagnosis of colon cancer. If you had genetic testing and were negative that would potentially mean your risk for colon cancer would go down to the risk of a normal Joe Schmoe off the street. And if you were positive, we would know your risks, we could determine the best surveillance methods, and help give you the best information regarding any prophylactic measures that are open to you.  That’s a lot of information from a test.
  2. Genetic testing can also help determine screening measures for your family.  We have discussed this before, genetics is a family affair, you are 50% your mom and 50% your dad after all. These tests results can be important for your aunts, uncles, cousins, 2nd cousins, your children and just about everyone else in your family.
  3. Genetic testing as a part of newborn screening. Any of you that have had children recently may not know this but all states run a test as soon as a child is born called the newborn screening.  The test uses a hearing exam, a blood oxygen level, and few drops of blood to screen for around 30 genetic diseases that if not caught early and left untreated can cause irreparable damage to child and even death. These genetic diseases are screened for in this test were chosen because we have interventions for these particular conditions that can save the child. Without this important program in place many children would go undiagnosed and become extremely sick.
  4. Genetic testing in the prenatal period.  One of the more controversial topics in genetics is the use of prenatal genetic testing. I am not going to get into the ethics and the controversy surrounding this but I did want to share an example where genetic testing can benefit an unborn child. When there are mutations in the RB1 gene children can be born with a specific type of tumor called a retinoblastoma. Retinoblastomas can destroy a child’s vision very shortly after birth if the tumor isn’t treated right away. If an unborn child is known to be at risk and tests positive for the gene mutation we can begin treatment very shortly after birth since every day counts with these tumors to preserve the child’s eye sight.
  5. Genetic testing can qualify you for clinical trials. There are several clinical trials out there for experimental treatments that patients can only qualify for if they have a positive genetic test.
  6. Genetic testing can qualify you for screening and prophylactic surgeries. Without genetic testing your insurance may not pay for the cost of the screening or the surgery.
  7. Genetic testing can give you peace of mind.  I am not saying this is true for everyone, but having that negative result in your hand or even a positive can give people peace of mind that at least they know one way or another.
  8. Genetic testing can help scientists create cures and medicines.  Obviously this should not be one of the main reasons you do genetic testing but it is certainly a bonus to having testing. We still don’t know everything about genetics and honestly I am not sure we ever will. The more people who have testing, the more that data gets shared, and the more researchers can have access to that information then the closer we can get to find cures or medicines for everyone. Sharing genetic data is an important topic in the genetics world right now and we all need to work together to further science.
  9. Genetic testing may save your life. I know, I know, save the most dramatic one for last. But I really do believe this is true. Genetic testing and results are scary. The idea that something is beyond your control is terrifying! I’m a melanoma survivor myself so I can understand the feeling that you have somehow lost control of your life or your body. But there is truth to the statement that genetic testing can save your life as well as the lives of others within your family. It can give you treatment options you may not have gotten before, it can allow you to have surgeries and screenings, and it can help children receive lifesaving treatments. Remember you are not alone, we are all in this world together, and there are support groups for every genetic disease out there.

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

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

As always, you can email Georgia at ihavelynchsyndrome@gmail.com and me at switherington@ambrygen.com.

You may as follow me on Twitter: https://twitter.com/twitherington and G at:  https://twitter.com/ShewithLynch!


 

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

 


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

Helping Those With Cancer

goodmanners

Well, this is one of the books I’ve been reading recently to “get out of head” and focus on other things instead of Lynch syndrome and cancer – gotta love the title. My apologies in advance if you find the title offensive. Alkon believes that we, as a society, are rude because “we live in societies too big for our brains” and therefore is on a mission to teach people in today’s insane world to possess some manners and to be mindful in what we do and say. There are funny and deviant bits in the book. It’s a good, entertaining read – I recommend it.

Ironically, since I was reading to get out of me head, I was surprised to find Chapter 10 entitled: “Friends With Serious Illnesses; What to do when a friend is really, really sick and could even maybe die.” I just cannot get away from this stuff so I’ve decided to just embrace it and go with it. Personally, I find that saying less when someone who is dealing with cancer is the best way to go and make a concerted effort to refrain from making stupid, trite comments. I just say things like “I love you” and “I’m here for you” – I try and keep it real – and then I’ll take over some food and flowers. Wash some dishes, walk their dog, or just sit and keep them company. But Alkon offers some refreshing, stellar advice to those who have loved ones dealing with cancer:

1. Listen – don’t talk about cancer unless your friend or relative wants to discuss it. Chances are they want to discuss the boring details of your life, not their cancer.

2. Don’t disappear. People with cancer do not have cooties — you can’t catch it. Just be there for them. Disappearing from someone’s life in their greatest time of need is one of the worst things you can do.

3. Don’t say: “Please let me know if there’s anything I can do for you!” unless you are filthy rich and absolutely mean it.

4. Take some initiative; ask your friend or family member if you can pick up anything for them while you’re out and about shopping or running your errands. Take them to their doctor’s appt. Clean their house, do some laundry, take their children out, bring recognizable home-cooked meals, and give them bed appropriate entertainment like magazines, a book of puzzles, or if you have cash to blow, buy them an iPad with a movie subscription.

5. Think twice about the cards you send someone who is sick. You should not be sending “get well” cards to someone who is terminally ill. Stay away from the religious cards as not everyone shares your religious views. This is not the time for proselytizing; a “thinking of you” card is more appropriate.

6. Cancer can overtake one’s identity. Anything anyone can do to bring back the “mundane” to a cancer patient’s life is greatly appreciated. Most cancer patients don’t want to talk about the philosophical implications of life and death or the progression of their cancer; they want to talk about how you ran into your greatest nemesis at the grocery store whilst you were dressed to the nines, pimping out your size 4 jeans. Think about conversation that brings lightness; they have enough heaviness to deal with.

7. Consider a “celebration” of your friend or family member before they die. Tell them how they have touched you and influenced you in your life. Write them a letter; throw them a little party with their closest friends and family, if they’re up for it. They cannot enjoy your loving words at their funeral — they’ll be dead — so do it whilst they’re still alive and can appreciate the words.

8. Many people who are battling cancer are divorced and living alone and are understandably terrified of dying alone. Just because someone is divorced, widowed, or single doesn’t mean that they have to die alone. One of the best things you can do for these people is to reach out to their other friends, family, and neighbors and create a Google calendar to be sure that someone checks in or is always with them until they leave this world.

9. These last two points are mine: we don’t talk about dying and death in our society enough. They are taboo subjects, what’s up with that and how do we change this? Death is what gives life meaning and purpose and yet discussion of it is frowned upon. I don’t understand it.

10. Make a will and get your affairs in order before you get sick. I have done all of this – way before I was even diagnosed with Lynch syndrome. Leaving this all up to your family can cause tremendous emotional despair, drama, unnecessary fist fights, and grief. Your loved ones will have enough to deal with in regards to your death. Make a will, be specific with what goes to whom, plan you’re own funeral if you’re able to, and decide what you want done with your remains. If you’re able, give possessions or money you want certain people to have before you die.

Hope you’re all doing well — keeping positive, nourishing yourselves, and living life to its fullest.

xogox

 

 

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