My name is Carly. I’m a mother of 4 and a cancer genetic counselor at Massachusetts General Hospital and formerly at Dana-Farber Cancer Institute in Boston, MA. I am an avid runner and currently training for the Mohawk Hudson River Marathon in upstate New York on October 8th. I am raising money for the Li-Fraumeni Syndrome Association. Li-Fraumeni syndrome (LFS) is a high risk hereditary cancer predisposition syndrome.
Families with LFS face lifelong uncertainty, anxiety, and possible loss of loved ones. As a genetic counselor, working with children and families with LFS has been the most challenging and meaningful part of my work.
LFS occurs when a person is born with a mutation in a gene called TP53. People with LFS are at high risk for developing one or more types of cancer, often starting in childhood. The most common cancers are: bone and soft tissue sarcomas, breast cancer, brain tumors, leukemia, and adrenal cortical carcinoma. People with LFS can develop almost any type of cancer at any age, and because it’s hereditary, their parents, siblings and other relatives may also be at risk.
The TP53 gene plays a role in about half of all diagnosed cancers, so researching this gene may bring us one step closer to preventing or curing many types of cancer, not just in people with LFS. The LFSA provides support for families and funds critical research.
As I run each of the 26.2 miles on October 8th, I will be thinking of the children with LFS and their families. I would be grateful for whatever support you can give.