Stories from Patients with Lynch Syndrome

"As a healthy 54 year old, my primary physician told me I was one of the healthiest 54 year olds he had seen. I was eating healthy, exercising regularly and feeling great. By the end of that year I started feeling less energy and some irregularities with monthly cycles attributed to menopause onset. It took more than a year despite regular visits to my OBgyn to get the uterine cancer diagnosis....stage 3 with a hysterectomy, chemo and radiation required.

In the early 1990s, my mother and maternal aunt had similar issues with hysterectomies at aged 55 with follow up radiation. My maternal grandmother died in a small Midwestern town hospital in her 60s from what they deemed pancreatic cancer (no autopsy performed). The geneticists are almost certain the MSH6 mutation was the root of my grandma's health issues as well.

And now it was my generation's turn to finally find out the source.... MSH6 genetic mutation; Lynch syndrome. My mom passed it on to me but not to my sister and my maternal aunt shared it with my cousin and two of her children. My daughter will be tested when she turns 18.

I'm thankful for the Huntsman genetics staff who have been so helpful in providing access to tests so that my family can now plan proactively how to test and watch for the cancers caused by MSH6 genetic mutations. Hopefully my daughter and my cousin's children can avoid surgery, chemo and radiation because they know about Lynch and can detect any signs of cancer early!

Thank you HCI for all you do and for providing this forum!" - V.G.

"I was diagnosed with Lynch Syndrome in December 2018. It was unexpected. I have lived with cancer my whole life. My mother died from uterine cancer at the age of 38 back in 1988. Many of her aunts and uncles died from cancer. But we had no idea that the cancers were related as most of them passed away from colon, pancreatic or some type of other 'stomach' cancer. We now assume that all of them had Lynch Syndrome. My maternal grandmother lived into her 80's and never had cancer. We believe she must have had Lynch Syndrome and given it to my mother. I am hopeful that I will also live a long life. My grandmother's story gives me hope.

Within a month of being diagnosed I had a total hysterectomy after having all the tests to ensure I didn't have cancer. Which I didn't. I was so thankful. We were done having children so this was an easy decision (I am 42). My twin sister in Scotland was tested as was my younger sister. Thankfully my younger sister tested negative but as expected my identically twin sister tested positive. So we have been going through this together navigating different health care systems and opinions.

I have an annual colonoscopy and every other year I have an upper endoscopy. I was overwhelmed at first with the diagnosis and all of the testing. But now I am at peace and trying to live my life. I have transitioned to a plant based diet and am trying to do all I can to live a long life.

A story was written about me" here. - A.M.

My mother was a lover of languages and all things cultural – she loved classical music, opera, art galleries, ballet. She and my father shared all these interests. I remember afternoons spent baking and doing arts and crafts together. And we traveled as a family often. But in 1988 at the age of 37, and with so much to still teach and show her girls about the world, my mother passed away from uterine cancer. When you’re 11 and lose your mum, it’s incredibly difficult. Extended family members had passed of cancer, but my mother was the first to have uterine cancer. She was diagnosed a few years before she passed. My mum was really sick for a couple of years. She went in every three weeks for chemotherapy, and lost her hair. The cancer metastasized and it was terrible. There were times when she couldn’t get out of bed. Somehow we were able to all go on holiday together in August (of 1988), and then she passed in September.

In early 2018, I had a screening mammogram. I was asked for my family history, and it took me ages to fill out. When it’s your story, you live with it and don’t think it’s that unusual. Doesn’t everyone have that much cancer in their family? It’s what we grew up with, so I didn’t think anything of it. Upon recommendation, I met with a genetic counselor. Based on my family history and without even doing a test, the genetic counselor thought Lynch syndrome could be a factor. One simple blood test. That’s all it took for a 47-gene panel to be completed that would test for all types of cancers. I was home alone on December 21 when the call came. I had tested positive for a pathogenic mutation of the MSH2 gene, one of four DNA mismatch repair (MMR) genes. I burst into tears. Until you hear the words come out of someone else’s mouth about your risk of developing cancer, you can deny it. I couldn’t any more. On one hand, devastation. On the other, maybe this is why Mum had died so young. I presented herself with two options – drown in sorrow or take control. I’d always been worried about uterine cancer. When you have someone close to you die of cancer, you’re convinced you’re going to get that type of cancer, too. And I might have. Instead, I chose to take the power of knowledge into my own hands.

On Jan. 17, I had a uterine ultrasound and a uterine biopsy to ensure cancer hadn’t started to develop; thankfully, it hadn’t. The next day, I had a colonoscopy and upper endoscopy. On Jan. 24, I had an elective total hysterectomy. We had already decided we were a one child family, so we didn’t have to have that difficult conversation. The procedure went well, and my recovery was great.

My mother didn’t watch me graduate or get married or have a baby. I know I have a higher risk of cancers, so I’m going to do everything I can to be alive for my daughter as long as possible. I get to choose how I live every aspect of my life. Family is really important to me, as are my friends. Any type of diagnosis can put things in perspective. I need to be present in each moment every day because that’s what my daughter will remember.

My family members have since gone through genetic testing. Being identical twins, my sister tested positive, while my younger sister was negative. It’s a hard conversation to have with those you love, but I wanted them to feel empowered to have the opportunity to take control of their health if they chose to do so.

Each day of your life and how you live it counts. Right now, I’m a ‘pre-vivor’ – I’m not a survivor as I haven’t had cancer, but it’s very possible I will at some point in my life. I’m choosing to give balance to every aspect of my life as a mother, wife and business owner. I’m choosing positivity. - AM (adapted from patient's full story here).

"My journey with Lynch Syndrome was strange from the beginning. I "knew" I had endometrial cancer. Not only were my instincts telling me this, but I had also worked as a registered nurse for many years. As a patient, I experienced what so many other people seeking health care report. I was not taken seriously. On my first visit, I requested an endometrial biopsy. Perhaps they should have realized a woman would not wish to have an endometrial biopsy unless she truly knew something was wrong. The procedure is uncomfortable, brings vaginal bleeding, and may cause infection. Instead of giving me the benefit of the doubt, I was told I didn't look like I had cancer and prescribed medications to treat a yeast and bacterial infection. With cancer, time is of the essence. After following their recommendations for over four months with no improvement an endometrial biopsy was done which showed anomalies. I was finally referred to a Gynecology Oncologist (GYN/ONC). I waited another month for surgery. I did indeed have endometrial adenocarcinoma. The lesion penetrated 70% of my uterine wall. My take-away? Health care professionals please listen to your patients.

Following surgery, I underwent intravaginal High Dose Rate (HDR) brachytherapy and became heavily involved with the Huntsman Cancer Wellness Center. I engaged in the activities offered and I was healing nicely. I thought it would be wise to have a colonoscopy screening. Dr Karen Zempolich, my GYN/ONC agreed and sent the order. The colonoscopy was normal. Dr Zempolich also wanted to make sure my endometrial lesion had been checked for genetic markers. She asked pathology to test this. I'm grateful hospitals keep patient's tumor slides for a long amount of time. The ImmonuhistoChemistry (IHC) tumor testing was performed and the results revealed normal staining of MLH1 and PMS2 genes. It also revealed a loss of staining of MSH2 and MSH6 genes. Genetics uses staining to find particular patterns of a gene or chromosome. Distinctive patterns are formed when chromosomes are stained with certain chemicals.

Based on my tumor test results I was given the diagnosis of Lynch Syndrome, a genetic condition associated with a high risk of colon cancer, endometrial cancer, among others. Genetic testing was also done with the hope of identifying the specific cause of my abnormal tumor test result. However, the MSH2 and the MSH6 gene were normal with no mutations. After reviewing the limitations of genetic testing and the possible reasons for the negative test result, they said there might be a possibility that I carry a germline mutation in one of the mismatch repair genes. But in November of 2009, there wasn't the technology to detect it. I was told that I was only one of two people seen with this anomaly. I was given strict instructions for routine Hereditary Non-polyposis Colorectal Cancer (HNPCC) screenings. I have followed suit as well as my children.

Sixteen months during a follow up visit Dr. Zempolich suggested I have a surveillance CT scan. I was feeling better than I had in years and didn't see a reason to have the scan, but knowing my doctor was very thorough I agreed. I will be forever thankful for her meticulous care. The cancer had recurred and was located in a lymph node in my left pelvis. I was in the operating room for six hours. A good part of that time was spent trying to locate the mass. Finally, Dr Zempolich found it, snuggled between my iliac artery and vein. For weeks after surgery I endured chemotherapy and pelvic radiation. That said, like so many cancer survivors, I suffer side effects from chemotherapy and radiation. It could be much worse. I'm fortunate to be alive. Cancer research will someday have more answers. I look forward to the day when that research finds answers to genetic forms of cancer. And of course, I cheer the day when there is a cure.

In closing. I want to add that while I was being treated my 18-year-old nephew was also at Huntsman Cancer Hospital undergoing his second Bone Marrow Transplant. He was fighting Hodgkin's Lymphoma. He is now 30 years old .

My family and I are beyond grateful for Huntsman Cancer Institute and Hospital." - M.H.

Presenter: Amanda Gammon, CGC
Talk: Patient Stories

"I unfortunately was diagnosed 20 years ago with Stage 2 breast cancer having a BRCA2 gene mutation. Two years later the other breast was diagnosed with a different cancer. My father was from Eastern Europe. He died young from prostate cancer not knowing of the gene mutation. 10 years past and during a routine colonoscopy, I was diagnosed with Lynch syndrome. Shortly after that , I lost a kidney due to Lynch. My mother, deceased, was the carrier. She never knew about Lynch Syndrome which took her life. She also had had uterine and kidney cancer when she was younger.

I have been told that it is extremely rare to have both gene mutations. Lucky for me that Huntsman constantly monitors my health." - S.R.

"I work in the medical field as a nurse practitioner at a pediatric clinic. I am a colon cancer survivor of 14 years. I have a strong family history of colon cancer. My mother died at age 41 from colon cancer. I was diagnosed with colon cancer at 39. Three of my four siblings have had cancer in their 30's. I also have a nephew and a niece get cancer in there 20's. Two of my children have the gene for lynch syndrome and I have not tested my 16 year old son yet. I am hoping to learn more about the advances in lynch syndrome and the recomendations for testing for me and my children moving forward." -M.G.

I was diagnosed in 2016/17 with Lynch (PMS2) after a diagnosis and surgery for Clear Cell Endometrial Cancer. My healthcare provider had instituted Universal testing for Lynch in all cases of endometrial cancer. It was overwhelming to get this diagnosis on top of having an aggressive type of cancer, which in addition to surgery required chemotherapy (plus an additional diagnoses of lymphatic dysplasia found in follow up testing of lymph nodes). My healthcare team, family & friends kept me on a steady path forward & through it. I was set up with a cancer counselor & met with the genetics staff. The counselor was very helpful & the genetics dept, while getting me to the right screenings, was a traumatizing experience to me - I felt unseen and unheard. (Since then there has been a reorg of the dept. & a hiring of a genetics counselor with Lynch Syndrome exp). My HMO has no "Lynch Team" & my 2 oncologists took on the role of keeping tabs on the need screenings since my diagnosis 3 years ago. As a survivor they are now seeing me 1 x yr, I can contact them anytime with concerns & my primary care provider is very caring & a good advocate with regards to my Lynch. I went to counseling for a yr outside my HMO to deal with the emotional/mental fallout - knowing I passed this along to my only child & my grandchildren are at risk; fearing a return of cancer; & feelings of loss & grief. It was extremely helpful. I still have fears & sadness, but they don't dominate my thoughts. I still feel anxious about getting screenings & wish I had a Lynch Team, but I'm managing that too. I don't know which of my parents passed along Lynch (my Mom was a suggested source), both died in their late 80s (of cancer - mom/peritoneal & Dad/lung), my only brother died in 2008 of Pancreatic cancer at age 55 - he was not tested for Lynch. - P.

Lynch Syndrome Provider Resource Page

Stories from Patients with Lynch Syndrome