Tom's Story

 

This is an example story that was to illustrate principles of family communication.

Tom got diagnosed with Lynch syndrome after finding out he had a likely pathogenic variant in the MSH2 gene. Tom’s parents had died in their 40’s in a car accident. Tom’s brother had died of colon cancer in his 40’s. His paternal aunt, who had raised him and his brother, had endometrial cancer in her 60’s. She also had the same variant.

Tom had already been getting regular colonoscopies because of his brother’s diagnosis, but he wanted to help others who might have a cancer risk due to this variant. He looked at the connectmyvariant index for his variant, and did not find it listed. His online search for his specific variant confirmed that there were no postings. He decided to make his own forum, where Tom shared his experience with genetic counseling and preventive colonoscopies.

One day on the forum, someone posted an interesting article about genetics. The article suggested that people with the same rare genetic variant, such as this one, might all be descended from a common ancestor. This meant that everyone with the variant, such as the members of the message board, might be related to each other in some way.

Tom was interested in seeing how he might be related to other members of the message board. He used online software to create a family tree with the names, birth dates, and death dates of the relatives that he knew about. He asked his aunt for help filling out information about his grandparents, great-grandparents, and other ancestors. Tom then used private messaging to share this family tree with two other members of the message board, who had also expressed interest in linking up their families.

Tom and one member of the message board were able to do some digging and found out that they were second cousins once removed. Specifically, Tom’s grandmother was the sister of the other member’s great-grandfather. Tom’s grandmother had lost touch with her family after moving across the country with her husband. Tom and his cousin each got in touch with their connecting family members who were still living and told them about the genetic variant and how to get tested for it.

Tom did not have as much success with the other member of the message board. While this member shared a surname with Tom, which they used to look up historical records, the closest they got was finding out that they each had ancestors who had settled in the same region in the 1800s. They were not sure how those ancestors were related to each other. Tom was a little disappointed, but he still found it a fun exercise in learning genealogy. Tom and this other member agreed to update each other if they found any more information in the future.