Joanne's Story
The first time I saw the words Lynch Syndrome, I saw them on my cousin’s page on Facebook. I thought maybe she was just advocating for the cause. I did not know she had it. I did not know my uncle who is her father had it. When doctors did a biopsy on me for a different reason, they started asking questions about my family history. My grandfather died at 36 from colon cancer. My father had colon cancer at 42. His four siblings had many cancers–skin, colon, cervical, stomach, liver.
My next concern was getting a colonoscopy. I mailed in a stool sample kit, and I got a call that there was blood in my stool. I was very nervous and scared. I couldn’t believe this was happening to me, although I had periodically thought about the cancers my father and his siblings had. The doctors found a polyp as big as a lemon. I had a colon resection and twelve rounds of chemo.
I got tested to find out if my cancer had a genetic basis, and I found out I had Lynch Syndrome (MLH1:c.245C>T). That is when I realized what my cousin posted on her Facebook page. When my father was going through treatment in Trinidad and Tobago, there was no mention of a genetic condition, but he had all the signs of Lynch Syndrome. He and his siblings died not knowing the condition they were up against. Only my father's last living brother, who was treated in the U.S., has been tested.
I was terrified. I gathered as much knowledge as I could about Lynch Syndrome to take preventative measures and keep myself healthy and, most importantly, tell my family members about the risk.
I called my three children and told them that there is a 50/50 chance that they could have Lynch Syndrome. They all tested positive. They’ve been doing well so far. My first son had first stage colon cancer at the age of 30. My second son had some polyps. They know what it’s all about now, so they get their colonoscopies.
I went to my cousins. My cousin who posted about Lynch Syndrome sent her paperwork to help me. My genetic counselor set up some of my father’s siblings’ children with a testing place in Trinidad and Tobago. I don’t think anybody showed up. That’s disturbing to me. A lot can be going on in your body, and you don’t know. Lynch Syndrome can be deadly if you do nothing. Maybe some people are like that. They have to see signs to really make the move.
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Joanne worked with ConnectMyVariant volunteer genealogist Emma to find distant relatives who might share her MLH1 variant. Since paper documentation wasn’t available on births and deaths in her family, they turned to DNA testing. Joanne took a DNA test from Ancestry, which matched her with potential family members who had also taken the company’s DNA test. Emma used computer software to identify people from Joanne’s father’s side. Then Joanne sent messages to them through the Ancestry website. She asked people who their grandparents and parents were, and Emma pieced the connections together into a family tree.
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I connected with some of my third and fourth cousins. Most are related to my father's nephew, who is on Ancestry. When I talk to them, I don’t go straight into, “Well, is Lynch Syndrome in your family?” I go into, “I would like to know how we are related. Who are your grandfathers?” A lot of the time I don’t know any of the names they say. It’s hard to connect people on the family tree. I met some with my last name that were easy to connect, but a lot of my grandfather’s relatives migrated to America, and marriages took place. Their names are so different. They were all strangers to me. But when I asked them where their parents or grandparents had come from, it all came back to Arima, Trinidad, where my father's people are from.
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Emma said, “Joanne is a great example of not getting discouraged when you reach out to your relatives and they’re not very responsive. She has taken the time to keep going, to not let their ambivalence get her down. I wouldn’t have been able to connect them without the information that she gathered.”
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One cousin’s father had many children, so she was on Ancestry because she wanted to find her siblings. She told me her father had some form of cancer. I told her, “You have to check yourself. You have to go get a colonoscopy.” She told me, “I will get a test for the sake of my daughter.”
I also met a distant cousin by the name of Daniel. He ended his first message to me with, “By the way, Joanne, if I take long to respond to your messages, I am on chemotherapy, and sometimes it makes me feel sick. I have a genetic condition called Lynch Syndrome."
This was the first time I made a connection with Lynch Syndrome outside of my father's siblings and their children. We haven’t figured out exactly how he’s connected, but I think he’s my fourth cousin. So apparently my grandfather’s siblings also have Lynch Syndrome. I realized this thing is wider than I was thinking it is. Who knows where it really started. I am waiting for Daniel to respond to see if we have the same variant.
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Joanne and Emma are continuing to figure out how Daniel and other DNA matches from Ancestry fit into the family tree. When they add Daniel’s branch, the bigger tree could reveal even more relatives who can be screened for the MLH1 variant.
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There is not a day that passes that I don't think of cancer. I am not as fearful of it now. I want everyone to know so they can take preventative measures. Be an advocate for your health. You alone know your body. When something is not right, see a doctor. Eat healthy and exercise. Treatment for cancer can be very harsh on the body, so it's vital you give your body a good diet. Have a positive energy!