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

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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

 

 

Mutation of the Month: Hereditary Diffuse Gastric Cancer

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By Kelly Fulk, Certified Genetic Counselor

As my first foray into blogging, I’m very excited to write the second “Mutation of the Month” about Hereditary Diffuse Gastric Cancer post for Georgia. I want to focus on hereditary cancer syndrome because it flies a little under the radar. Hereditary Diffuse Gastric Cancer (HDGC) is a syndrome associated with mutations in the CDH1 gene, and people with the syndrome are primarily at risk to develop specific types of stomach cancer and breast cancer. Before I dive into the details, a quick detour: if you need a refresher on the differences between “genes” and “mutations,” please see my colleague Sarah Witherington’s July 13, 2014 “Mutation of the Month” post. http://www.ihavelynchsyndrome.com/mutation-month-fap/#.U90-BvldWSo

Now, without further ado, let’s get back on track. Like Lynch syndrome and many other hereditary cancer syndromes, HDGC is inherited in an autosomal dominant manner. (And if you don’t remember, this means someone who carries a CDH1 mutation has a 50/50 random chance to pass it on to sons or daughters each time they have a child). This fact can make parents who carry these mutations feel guilty if they find out that one (or more) of their children inherited the mutation and the associated cancer risks. Of course, this makes no sense – from a scientific standpoint. There is nothing one can do naturally to control which genes they pass to their kids, but this is still a tough issue for many people with hereditary cancer syndromes. Genetic counselors and support groups are two of the many resources available to help individuals and families deal with challenging concerns that can naturally come along with a hereditary cancer syndrome diagnosis. Sometimes it just helps to know that there are outlets for the powerful feelings and emotions that can arise.

HDGC is associated with increased lifetime risks for diffuse gastric cancer and lobular breast cancer. Diffuse gastric cancer is a particularly aggressive type of stomach cancer that is difficult to detect with screening it causes the stomach lining to thicken, making it tricky to see during an endoscopy (a procedure like a colonoscopy that looks at the esophagus, stomach, and small bowel). Imagine trying to look with a tiny camera at the inside of the stomach and trying to determine if it is thicker than it should be, not very easy. People with CDH1 mutations have about an 80% lifetime chance to develop diffuse gastric cancer by age 80, but the average age of diagnosis is in the mid-30’s. Some people have been diagnosed as young as 14, so HDGC is a hereditary cancer syndrome where genetic testing may be considered for children. As Sarah mentioned in her earlier post on familial adenomatous polyposis, genetic testing for children is particularly complicated and sensitive, and should be addressed with a genetic counselor or physician.

Since diffuse gastric cancer is aggressive and hard to detect, people who carry CDH1 mutations are recommended to have a prophylactic gastrectomy which is a fancy way to say a preventative removal of the stomach before cancer develops around age 20. I don’t know about you, but I love to pig out from time to time! Removing someone’s stomach greatly impacts his or her quality of life.  This impact can include strict limitations on meal size, abdominal pain, diarrhea, poor food absorption leading to malnutrition, and other unpleasant effects, but it comes along with a nearly complete reduction in stomach cancer risk.

As I mentioned earlier, CDH1 mutations are also associated with an increased lifetime risk for lobular breast cancer. This is a type of breast cancer that actually begins in the lobules of the breasts, rather than the milk ducts which is the more common starting site. This detail about a cancer diagnosis is important for genetic counselors and physicians to know, because it helps them determine which hereditary cancer syndrome (or syndromes) would be most likely, and what genetic test would be most appropriate to discuss with a family. As an aside, this is why genetic counselors often ask so many pesky questions about your personal and family history – I promise we’re not just being nosy!

With HDGC, there is a 39-52% lifetime risk for women to develop lobular breast cancer, and the average age at diagnosis is 53. Women with CDH1 mutations are offered the option of a prophylactic double mastectomy (removal of both breasts before cancer develops) or to begin a high-risk breast screening program, usually consisting of regular mammograms and breast MRIs beginning around age 35. But one of the issues with screening for lobular breast cancer is that it is very difficult to see using a traditional mammogram and more clinicians choose to screen patients with CDH1 mutations with breast MRIs for that reason.

This brings me to an incredibly difficult dilemma that many people with Lynch syndrome know all too well: choosing a lifelong high-risk screening program or preventive surgery. Removing body parts at high risk to develop cancer significantly reduces the lifetime cancer risk – but, as I mentioned earlier, this can come at a major cost to quality of life. Screening is less invasive, but unfortunately it’s not currently sensitive enough to catch all cancers in their earliest stages. This can leave some people who choose this option to feel like “ticking time bombs.” Choosing screening or preventive surgery is a very personal decision that people make based on their own mixes of personal experience, perception of risk, and other factors. Here’s the good news, though: they are not alone in their decision-making process. Genetic counselors and other health professionals can offer education, information, and guidance. And all these resources know that, in the end, the final decisions are best left to those whose lives will be directly impacted.

I hope I have been able to shed some light on one of the lesser known hereditary cancer syndromes. Lynch syndrome and the BRCA genes tend to command attention as they are a bit more common (as these rarer cancer syndromes go) and affect more families. Plus, who doesn’t want to “Save the Ta-Tas”?!  This attention is well deserved, and I am glad to see the growing numbers of fundraisers and events dedicated to raising awareness about these syndromes. I know I’m a cancer genetic counselor, but it is still my hope that awareness can one day be raised for genetic testing and hereditary cancer syndromes as a whole. While the specific types of cancer associated with each syndrome differ, the issues that individuals face tend to be remarkably similar. For example, I believe that families affected with HDGC could benefit by being included in related support groups and events to let everyone who is affected know that they are not alone.

I know Georgia shares this sentiment with me, since she has cultivated such an inclusive blog to help support hereditary cancer syndromes and those navigating genetic testing. Let’s all share in the struggles and support of families impacted by hereditary cancer syndromes, so that awareness about medical guidelines and genetic testing can be raised for everyone.

To learn more about Hereditary Diffuse Gastric Cancer or to find support, check out:

http://www.cancer.net/cancer-types/hereditary-diffuse-gastric-cancer

http://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer

http://www.nostomachforcancer.org/gastric-cancer/hereditary-diffuse-gastric-cancer

References:

Kaurah, P., & Huntsman, D. (2011, June 21). Hereditary Diffuse Gastric Cancer. Retrieved July 21, 2014, from http://www.ncbi.nlm.nih.gov/books/NBK1139/.


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 kfulk@ambrygen.com.

Follow me on Twitter @KFulkRVA_GC or https://twitter.com/KFulkRVA_GC


KFulk headshotKelly Fulk, MS, CGC, was born and raised in Knoxville, TN and received her Bachelor’s degree in Psychology from Washington and Lee University    in Lexington, VA. While studying at W&L, she played volleyball, worked on a local crisis hotline, and helped plan philanthropic events for Kappa Alpha Theta sorority. After graduating, she worked as a genetic counseling assistant for the Cancer Risk Program at UCSF Medical Center in San Francisco for two years before attending UC Irvine where she received her Master’s degree in genetic counseling. Kelly is currently an Oncology Genetic Specialist for Ambry Genetics. If she ever has free time in the future, Kelly would love to explore her wonderful new hometown of Richmond, VA.

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. 


 

Preventing Colon Cancer

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I came across a stellar piece from the American Gastroenterological Association about diet and colon cancer in my reading, which I wanted to share with you in regards to preventing colon cancer. The paper talks about the history of food and how prior to the Industrial Revolution, most of what humans consumed was “rich in natural compounds obtained from plants and fruits.” Different areas around the world have its favorite “phytochemicals” or nutrients found in plants, which may protect against colon cancer. For example, the Mediterranean diet consists of tremendous amounts of fruits and vegetables, olive oil, fish, and legumes; in Asia, spices such curcumin and the polyphenols (otherwise known as micronutrients) in fruits and teas have been pivotal in dietary roles and cancer prevention for centuries.

The 20th century brought the Western diet:  a diet filled with refined grain, animal proteins, low amounts of fruit and vegetables, saturated fats, along with the use of antibiotics and growth hormones in factory farms. All of these things are believed to have significantly contributed to the increase in colon cancer — “one of the leading causes of cancer incidence and death worldwide.” What we fail to realize is that our gut microflora use the phytochemicals from plants in order to “establish the most favorable host-bacterial relationship. The adoption of the Western diet has rapidly led to the replacement of saprophytes (a plant, fungus, or microorganism that lives on dead or decaying organic matter) and pathogens (a biological agent that causes disease or illness to its host), which we are now understanding as being critically involved in the development of obesity, metabolic syndrome and ultimately cancer.” In other words, eating the typical Western diet has a negative effect on our gut flora and on our bodies and contributes to a number of health issues — colon cancer being one of them.

There is no “magic pill” available for preventing colon cancer, although aspirin has been shown to be highly effective in preventing polyp formation in the colon for those with Lynch syndrome. That is an another blog post which I will get to shortly. A variety of fruits and vegetables, along with spices, teas – all of which consist of phytochemicals; their consumption over a long period of time seem to be essential in the prevention of colon cancer. “It is time to give up the idea of finding a single compound with anticancer effect; we should focus on more natural ways of preventing colorectal cancer that should be very well received by consumers. Also, food industries must contribute to this effort by designing food rich of phytochemicals and non-digestible polysaccharides tailored to modulate gut microbiota.” Rather than looking for a cure for colon cancer we need to focus on its prevention — prevention in the form of healthy, nutritious plant-based foods. Stay away from processed foods, meats, snacks like potato chips, and try to mostly eat foods, which nourish you. Try and eat organic fruits and vegetables (especially those which have thin skins like grapes, tomatoes, apples, pears, berries, etc.), consume probiotics and manage your stress. Remember, your immune system begins in your gut. Oh yes, and don’t forget to exercise and maintain a healthy weight. And if you have Lynch syndrome – annual colonoscopy is essential, along with all of the other Lynch-related cancer screenings and tests.

Reference: http://www.gastro.org/journals-publications/aga-perspectives/decemberjanuary2014/diet-and-colon-cancer-in-western-and-eastern-countries

In the meantime, I have been working out health coach/trainer and she has actually been a huge positive force in my life. I’m walking the talk and practicing what I preach. I thought I had been working out over the past 5 years with mostly running and lifting weights and honestly I realized that I haven’t truly worked out until now. I’m pretty fit for a 43 woman – I can run 6 miles in a little over an hour and can do “true” push-ups with no probs but I must admit, Caroleen is kicking my ass. We have been working out hard, sweating bullets, and I’ve lost 3 pounds in the past week. I am lifting kettle bells, doing interval training on the treadmill, and all kinds of other interesting exercises to “shock” my body. I am on a predominantly gluten-free (wheat-free) – which really means I’ve pretty much have stopped eating bread and eat “Flackers” (flax-seed crackers; http://www.drinthekitchen.com/products.html) instead. I am drinking loads of water, protein shakes and consuming obscene amounts of veggies, fruits, and probiotics.  My new fave go-to snack are the Cave Chick Cookies (http://cavechick.com) which are made out of spelt and ground flax, FYI; the “Cavedoodles” totally rock. You can order them online in you cannot find them in your local Whole Foods. I highly recommend them.

Hope you’re all well and nourishing yourselves in multiple ways.

Yours,

g

10 Things Lynch Syndrome Has Taught Me

Climber dangling from a rope.

1. All deleterious gene mutations are difficult to reconcile: BRCA, Lynch syndrome, Cystic fibrosis, Li-Fraumeni’s, Cowden’s, FAP, etc. While the syndromes differ, there are many parallels between them emotionally and physically. Having any of these horrible gene mutations is a huge emotional, physical, and financial burden.

2. Some of the greatest souls I have met in the world are other cancer advocates. They are the one’s who give a voice to these unique communities and put their hearts and souls into their work for very little in return. They know what it’s like to lose someone to cancer, to have / or had cancer and have boundless empathy for others. They simply want to help lessen the misery in the world.

3. Not everybody with a genetic mutation is fortunate enough to have the emotional support of his or her family. Sometimes family members prefer to not to know whether or not they hold the mutation and bury their heads in the sand, even though they may be carriers themselves; or, some people many have no support because they have already lost many members to cancers. Those that do have supporting, caring, loving family and friends are more fortunate than they realize.  Many people are living without much needed family support and it is tremendously sad.

4. Your genes do not have to determine your destiny; take care of yourself, get healthy, eat well, exercise, besiege yourself with positivity and people who are willing to lift you up — stop making excuses.

5. Prophylactic surgery in order to prevent malignancy to your organs may hold tremendous, life-altering consequences for you. Try to become your greatest advocate and educate yourself, talk to others, and ask your doctors many, many questions. Many doctors tend to hold a “one size fits all” approach to medicine and this can be a big problem. Every person is unique and so should be his or her treatment.

6. There are many patients advocates out there willing to help you. They can help find the resources you need to help you get genetically tested, find you doctors, psychologists, or even just provide great reading material for you. We are fonts of knowledge and are here to help you as much as possible. Reach out to us. Hint: if you’re on Twitter, “search” the syndrome of interest and you will most likely find the top advocates for your topic.

7. Advocacy must be tailored to fit various groups. Again, the “one size fits all” approach does not work. For example, some women with a family history of BRCA within the Jewish community are reluctant to get tested before marriage. Cultural issues play a huge role in how/when/why a group goes about being genetically tested.

8. You will come to terms with the diagnosis and learn a new normal. You will no longer take your days, family, or friends for granted.

9. The most challenging times of the year will be: holidays, birthdays, when milestones are reached, or when it’s close to annual testing and screening.

10. You must look inward for the strength you need; no one will be able to provide that for you but yourself.

Yours,

g

 

Having Lynch Syndrome and Taking Charge of Your Being

10471328_740411269333412_5023907394847570526_oI’ve decided I need a kick in the arse. Running is starting to bore me so I thought I’d kick it up a notch and hire the hottest, fittest personal trainer and health coach I know — Caroleen. She is pictured above. She is pillar of health, strength, and positivity; all of which we need to besiege ourselves with a lot more of. She is highly knowledgeable about exercise and food as she is a certified personal trainer and nutritionist. She has introduced to me to a form of exercise called Foundation Training, please click here if you’re interested in learning more about it: http://goo.gl/aSZ8S3, along with kettle bells and interval training. If you live in Chicago and are interested in contacting Caroleen in order to have her help you meet your fitness goals, you may contact her through: www.summitperformancetraining.com.

Foundation Training looks much easier than it really is. If you’re assuming a proper position for any one of the particular exercises you will definitely feel it in various parts of your body. And it is hard. You’ll be sweating bullets in no time. It’s great for your core, butt, and posture and you will definitely benefit from it if you spend and obscene amount of time sitting most of the day. She also consults me on living a healthy, positive lifestyle — with great emphasis on highly nutritious foods and surrounding myself with beauty and positivity. She has put me on a high protein, gluten-free diet; I drink loads green veggie juice, lemon and berry infused water, and use coconut oil and cashew butter to stave off food cravings. I will be sharing exercise and health tidbits from her to help you make small improvements to your life. For one, start drinking more water – a lot more water, especially before your meals. Many people who think they’re hungry are really just thirsty so drink some water first to see if that’s the case. When you do finally eat, you probably won’t consume as much food much because your water intake can decrease your appetite.

I have been trying hard to remove negative external forces from my life; I used to be a news junkie but I can no longer absorb or process the negativity any longer. I have stopped reading the newspaper. I don’t watch television unless it’s a show I use to get myself out of my head. I get most of my news off of Twitter and occasionally the images I come across in regards to world events are too difficult for me to bear. I have stopped reading Facebook platforms and many other “Lynch” related sites because I find that most of what is on there consists of the worst of what Lynch cancers have to offer. Whilst I have learned a tremendous amount about various Lynch related cancer issues, therapies, procedures, and whatnot, I just do no find it helpful in my life in regards to trying to maintain my positive attitude. All of the misery and uncertainty on these sites can only fuel one’s anxiety. My heart bleeds for those who are sick with Lynch related cancers — and I wish I could ameliorate their misery but I can’t. But what I can do is provide hope for the previvors and encourage them to make positive changes to their lives to stay healthy and hopefully cancer-free.

I want to empower others, give them hope, and help them realize that their genes do not have to determine their destiny. Rather than spending hours on Facebook and reading some of the horrific stories and reading some people’s trite, simplified, black, and white answers to highly complex issues, I wish people would spend their times with their families, cooking healthy meals together, going on walks, exercising, and focusing on the positive things in their lives.

There is one Lynch site which I love to read religiously: http://www.thelyncheffect.com/blog  by Autumn Tinsley. She was diagnosed with bowel cancer due to Lynch syndrome at a young age and from that emerged her amazing website. Her site is a font of inspiration, insight, and optimism and she mirrors much of what I discuss and do. I highly recommend you check it out. Here’s a brief insight into thelyncheffect.com:

 

The Lynch Effect is about making conscious choices everyday,
To step into infinity,
To move and meditate,
And to sculpt your own life.
It is making the decision to have an open heart, 

to live with purpose, 
and connect with a deep knowing that all is as it should be.

leffect

Living well is a choice and if you’re really interested in doing so you will make time for it instead of excuses.

One more thing, here’s a great video I came across regarding our gut bacteria and the implications they hold for our immunity. I highly recommend that you watch it: http://goo.gl/53Zrj0

I hope you all have a stellar week.

No mud, no lotus.

xogox

 

 

Battle for the Breasts!

BattleForTheBreast_Header

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

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

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

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

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

http://mauliola.org/battle-for-the-breasts 

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

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