World Rare Disease Day 2016: Li-Fraumeni Syndrome

World Rare Disease Day is February 29, 2016. Living LFS is teaming up with Global Genes to raise awareness about Li-Fraumeni Syndrome and Rare Diseases.

LLFS 2016 Rare Aware is a patient advocacy organization for rare diseases. Their mission is to eliminate the challenges of rare disease by building awareness, educate the global community and provide critical connections and resources that equip advocates like Living LFS to become advocates for their disease.  Their mission is so similar to ours for the Li-Fraumeni Syndrome community. Living LFS joined the Global Genes RARE Foundation Alliance in 2015 because although we have a small patient population, according to the Global Genes website, “collectively the rare disease community is larger than the AIDS and Cancer communities combined.”  Even though the actual diseases are unique, many of the issues we face with rare conditions are similar and by sharing experiences and resources we can help each other navigate for a better quality of life.

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80% of Rare Diseases are Caused by Faulty Genes.

LFS is one of those Diseases, caused by mutations in the TP53 Tumor Suppressor Gene. People with LFS are at risk for many different cancers over their lifetime and many times multiple cancers. Although LFS mutants have higher risk of cancer, advances in early detection and new screening methods help us live longer, healthier lives.

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Approximately 50% of People Affected by Rare Diseases are CHILDREN.

Approximately 50% of LFS cancers happen before the age of 30. Half of the LFS core cancers are RARE childhood cancers such as choroid plexus tumors or adrenocortical carcinomas.  Soft tissue Sarcomas and Osteosarcomas are seen often in kids with TP53 mutations. Because of such a strong link between sarcomas and TP53 mutations, Dana Farber Cancer Institute began recommending all children who present with sarcomas be referred for genetic counseling.

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In the US, a disease is Considered RARE if it affects fewer than 200,000 people. 

Some literature says 400-500 families worldwide are affected with LFS. Others say that many families exist in the US alone. We don’t know how many are actually affected with LFS because not all people with LFS get cancer. We do know it is rare and that many physicians do not know a lot about it. This makes getting good care for our community extra difficult.


How Can You HELP?

-Help others be AWARE.

Share information about Li-Fraumeni Syndrome with friends, family, or care providers. This year we are wearing our Living LFS shirts and Jeans and making it a goal to talk to at least one person about Li-Fraumeni Syndrome.  Not sure what to say? Just talk from your heart and your experience living LFS.  You can refer them here to our website at or download our informational pdf and print it out to share.



-Share You’re RARE.


You can share your story here in a blog post. It helps others to know they are not alone in living LFS. Feel free to post at our public Facebook page and let us know how you are living LFS.  Wear your living LFS shirt and take the opportunity to tell people who ask- What’s LFS?  that you are living with a hereditary cancer syndrome.

Contact US to SHARE your story.

-Show You CARE.

I <3 Someone Living LFS

Let your friends or family who are rare know how much you care. Send them a message or a text just to say hi. Update your profile picture to one of the great badges supplied by or create one of your own that tells someone who is facing a rare disease that you support them.

We are Rare. We Care.

Li-Fraumeni Syndrome, A Class of its Own.


A few months ago, I had the opportunity to take an online course entitled Introduction to the Science of Cancer offered by the Ohio State University through the online education app called Coursera. I was excited to see what the course material contained. As someone with a hereditary cancer syndrome, I feel like I know more than your average bear about cancer, but this was a good way to see where I stood.

I logged into the class and read through the syllabus. The class was a series of video lectures offered by various personnel at The James Cancer Hospital connected with Ohio State University Comprehensive Cancer Center. There were 5 modules, each with a different lecturer for the different focus. The Modules covered What is Cancer, Diagnosis of Cancer, Treatment of Cancer, Prevention of Cancer and Cancer Research. Each module was connected to a video that was about an hour in length. The best part, the course was absolutely FREE.

After each module, there was a quiz worth 10 points and you could take each quiz two times. I liked to take the quiz before watching the video to see what I knew going in and what I had to focus on. The nice part was I could work through the module at my convenience(in my pjs or while at my daughter’s soccer practice.) As long as you finish the quizzes by the class deadline, you get credit. Did I mention the course was FREE? Free education! Free information from one of the leading cancer centers in the US!

Along with the quizzes, each student was responsible for a final project. No fear- it was a creative project that had two options for me to choose from. You could design a project that explored how cancer impacted you, your family and community or you could create an artifact for cancer awareness for the community you live in. You had a lot of free reign with what you could do. You could write a poem, make a poster,sing a song-anything that appealed to you. I really liked this aspect of the course. Then after you complete the project, you get points for reviewing at least 5 peer projects.  This was fascinating and I learned a lot about how cancer is perceived and treated all over the world. I was so impressed at how far reaching this program was. Did I mention it was FREE?

Living with a hereditary cancer syndrome means we have some crazy stuff pop up at inopportune times. I know many friends who have had to postpone education due to cancer and treatment. This course offered the opportunity without the fear, you could do it at your own pace and if you didn’t finish, all you miss out on is a certificate. I would definitely recommend this course or any others that might interest you through Coursera- check it out. Knowledge is power! 

I am really thankful for everyone at the James who took the time to record the enlightening lectures about cancer for this course. It really was a good resource.

In case you were wondering- I did my project on LFS and Living LFS. I figured why not take the opportunity to educate about Li-Fraumeni Syndrome as well as tell about how it impacts families like ours. If you click on the slide above, it will take you through my project.

If you missed out on the fall class and are interested in enrolling, the course is  offered starting January 25, 2016!