My name is Stephanie and I have Li-Fraumeni Syndrome. I found out in 2010 after having a double mastectomy from breast cancer that I was positive for this syndrome. I was told by my doctor that I would be tested for this genetic mutation, but that I would have a better chance at winning the lottery than have LFS. Well, needless to say when the phone rang two months later, it wasn't the state lottery board, it was my doctor saying to me.."you have LFS." My whole world changed in an instant."
LFS is a syndrome that affects the PT53 tumor suppressor gene. Everyone has two carbon copies of their genes and if you have LFS, then one of your genes has either a mutation in it or the 2nd gene is completely deleted. There are only to date, 3,500 families in the world that know they have LFS. In my family’s case, we are part of a smaller group that is missing their whole second gene. What that means for us…we don’t exactly know. What we do know is that most likely my mother was the carrier because our father was tested and he tested negative for this gene mutation. We always knew something wasn’t right with our mother’s cancer history, but until now it just hadn’t made sense.
Our mother was pregnant with me when she was first diagnosed with breast cancer and had her first mastectomy while still pregnant. Then after I was delivered, she had her treatment. Then several years later she developed a second breast cancer and had that breast removed. She was doing great until one day she developed a radiation sarcoma. So our mother ended up dying of her treatment, not breast cancer. Come to find out these past few years of learning about LFS, patients with LFS should not have radiation treatment. People with LFS that have been exposed to extensive and even minimal radiation can develop sarcomas.
My mother’s radiation tumor haunted everyone for years, even her doctors, one of which is still alive today who helped start me on my journey of trying to put the puzzle pieces together. I always knew I would get breast cancer, maybe it was because she was pregnant with me when she was diagnosed, but Jenn would be first. Jenn was diagnosed with breast cancer, the same exact way our mother was…Jenn had just given birth to her second child, Lexi and found out she had breast cancer. Jenny not only had one type of breast cancer but two. We found this out after she donated her breast tissue to research. So when I found out I had breast cancer it made it very easy for me to decided what to do. Double mastectomy no questions asked.
The interesting thing is that most doctors wanted me to have a lumpectomy with radiation and chemo if necessary. But I was insistent on no radiation, because of what my mother went through. Also, seeing Jenn do so well, it was a no brainer for me. One doctor even told me he wouldn’t remove my breasts, that I was mutilating my body and that I had no gene mutation in my family just bad luck. Well, my husband and I walked out of his office and said…he would never touch my body. I found two doctors that agreed with the path that I wanted and then was on the road to healing.
When the phone rang two months later and I found out I did in fact have LFS, it took all of me not to call up that doctor and scream at him. I always knew their was more to our mother’s story and that she didn’t die in vein and now, 30+ years later the truth came out. Our mother had Li-Fraumeni and should have never had radiation, or at least the amount that she had. Had we known this way back when, than maybe she would be here with us now.
There is no blame on anyone, just circumstances and timing. What we know now will help future generations to come. Hopefully with awareness and raising money we will be able to make testing for all families available, so that they can make educated choices.
When you are diagnosed with LFS, you have a 90% chance of getting 1 of 9 soft tissue cancers before the age of 40 AND a 50% chance of getting a second cancer before the age of 60. The protocols for watching people with LFS is very strict, but still are being tested.
Jenn, Lexi and I have decided to become part of any study that we can to help other families with LFS. It is our hope too… that you can help others, like us, by donating money to this Association. Please just even skipping one cup of Starbucks, or DD and donating that money to The LFSA would be amazing!
Thank you so much for your love, time and donations.
Stephanie Cousens Kudriashova and all of the LFSA Families around the world!