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Living with Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Amy
Disclaimer:
Please note that the personal stories in this album describe each individual’s experience with Lynch syndrome or Hereditary Breast and Ovarian Cancer Syndrome and are not meant to offer medical advice. Decisions about medical care should be made taking into consideration the facts, the science, and the patient’s values. The right decision for one patient may not be right for someone else.
Amy’s Story
It has been just over one year since I was diagnosed with Stage IIIb colorectal cancer, due to a well-characterized mutation in MSH2, one of the genes involved in Lynch syndrome. The last 11 months have been a roller coaster, emotionally and physically. The hardest part was accepting that I could have potentially prevented my cancer (or at least skipped chemotherapy) if I had chosen to undergo genetic testing five years ago.
As a graduate student in Human Genetics, I suspected that my family harbored a mutation in a hereditary cancer gene, as five of my maternal relatives had been diagnosed with various cancers–three before their 40th birthdays. I searched for a genetic link, scouring pamphlets from genetic counselors. Nothing made sense–until several years later, when one of my family members was diagnosed with a well-characterized mutation in MSH2. As a geneticist, I assumed that if I were given an opportunity to be diagnosed through genetic testing, I would enthusiastically find out the answer. However, when presented with the possibility of knowing if I had a mutation in MSH2, I did nothing. I rationalized that it couldn’t happen to me. Even as someone who understands genetics and champions genetic testing, I failed to be realistic about my 50% chance of inheriting our family’s MSH2 mutation.
Three days after my 47th birthday, I found what felt like a heel in my lower right abdomen. After a panel of tests and a colonoscopy, I heard words I will never forget, “You have Stage III colorectal cancer.” The next weeks blurred, as I discovered I carried my family’s MSH2 mutation, as I sorted through this devastating news, as my life changed permanently. Yet, I am one of the lucky ones. I was accepted into a clinic devoted to Lynch syndrome, and my surgery was a great success. I finished six months of chemotherapy, complete with severe cold sensitivity, neuropathy, and days in which my brain functioned 50% slower than normal. In addition, I had my reproductive organs removed, as my MSH2 mutation increased my chances of having uterine and ovarian cancers.
Looking back over the last year, I am grateful to have found my tumor before it metastasized, grateful for everyone who helped me make it through the diagnosis, surgery and chemotherapy, and grateful for encouraging words on my worst days. The love that came my way over the past year is the best gift I have ever been given. In this post-cancer life, I became proactive regarding my health care, urged my brothers to take preventative measures and used social media to advocate for Lynch Syndrome prevention, diagnosis and treatment. It is my way to combat this cancer so I can share the gifts I have been given this past year, so that maybe others will choose to undergo genetic testing before they hear those devastating words.
Learn more about Lynch syndrome:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cancer.net/cancer-types/lynch-syndrome
www.cdc.gov/Features/LynchSyndrome/
www.ghr.nlm.nih.gov/condition/lynch-syndrome
Living with Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Amy
Disclaimer:
Please note that the personal stories in this album describe each individual’s experience with Lynch syndrome or Hereditary Breast and Ovarian Cancer Syndrome and are not meant to offer medical advice. Decisions about medical care should be made taking into consideration the facts, the science, and the patient’s values. The right decision for one patient may not be right for someone else.
Amy’s Story
It has been just over one year since I was diagnosed with Stage IIIb colorectal cancer, due to a well-characterized mutation in MSH2, one of the genes involved in Lynch syndrome. The last 11 months have been a roller coaster, emotionally and physically. The hardest part was accepting that I could have potentially prevented my cancer (or at least skipped chemotherapy) if I had chosen to undergo genetic testing five years ago.
As a graduate student in Human Genetics, I suspected that my family harbored a mutation in a hereditary cancer gene, as five of my maternal relatives had been diagnosed with various cancers–three before their 40th birthdays. I searched for a genetic link, scouring pamphlets from genetic counselors. Nothing made sense–until several years later, when one of my family members was diagnosed with a well-characterized mutation in MSH2. As a geneticist, I assumed that if I were given an opportunity to be diagnosed through genetic testing, I would enthusiastically find out the answer. However, when presented with the possibility of knowing if I had a mutation in MSH2, I did nothing. I rationalized that it couldn’t happen to me. Even as someone who understands genetics and champions genetic testing, I failed to be realistic about my 50% chance of inheriting our family’s MSH2 mutation.
Three days after my 47th birthday, I found what felt like a heel in my lower right abdomen. After a panel of tests and a colonoscopy, I heard words I will never forget, “You have Stage III colorectal cancer.” The next weeks blurred, as I discovered I carried my family’s MSH2 mutation, as I sorted through this devastating news, as my life changed permanently. Yet, I am one of the lucky ones. I was accepted into a clinic devoted to Lynch syndrome, and my surgery was a great success. I finished six months of chemotherapy, complete with severe cold sensitivity, neuropathy, and days in which my brain functioned 50% slower than normal. In addition, I had my reproductive organs removed, as my MSH2 mutation increased my chances of having uterine and ovarian cancers.
Looking back over the last year, I am grateful to have found my tumor before it metastasized, grateful for everyone who helped me make it through the diagnosis, surgery and chemotherapy, and grateful for encouraging words on my worst days. The love that came my way over the past year is the best gift I have ever been given. In this post-cancer life, I became proactive regarding my health care, urged my brothers to take preventative measures and used social media to advocate for Lynch Syndrome prevention, diagnosis and treatment. It is my way to combat this cancer so I can share the gifts I have been given this past year, so that maybe others will choose to undergo genetic testing before they hear those devastating words.
Learn more about Lynch syndrome:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
www.cancer.net/cancer-types/lynch-syndrome
www.cdc.gov/Features/LynchSyndrome/
www.ghr.nlm.nih.gov/condition/lynch-syndrome