I just found out I have LFS. NOW WHAT???
First of all, take a deep breath. It is a lot to take in. You are still the person you were yesterday, you just have another piece of information about your health and cancer risk. You do not have an expiration date. Take the time to gather your information, your thoughts and your care team.
Just like taking it one day at a time (sometimes one hour at a time), LFS presents many challenges. We try to protect our bodies, but we have to make tough choices. You may feel overwhelmed and that the choices contradict what you have been told. When making these decisions, we often use the saying You have to fight the shark closest to the boat. If you have multiple sharks circling your boat, tackle the first and most life threatening first, you can’t fight off the next if you don’t beat the first.
How do I tell my family?
How would you want to be told? Each family dynamic is different. Genetic Counselors are excellent resources for not only helping you understand LFS, but for talking with family about the syndrome and other family members’ possible risk. Since LFS is an autosomal dominant mutation, it can be passed to children.
Cancer Genetics are very complicated. In the case of LFS, the disease is an inherited cancer predisposition. There are physical, social and emotional impacts when living with a genetic condition like Li-Fraumeni Syndrome. Genetic Counselors have special training that helps them support patients, evaluate the risks of their condition, and get the best care for their rare situation.
Should I get Tested for LFS?
Getting tested for Li-Fraumeni Syndrome is a very personal decision. There are many considerations: are you ready to know? Will knowing affect the way you approach health care or get you better care? Will insurance cover the test? Does knowing create undue stress? Everyone is different and Genetic Counselors can help you decide what the right path is for you. A couple things to consider: the test could always be negative, and once you know the results, you can’t unlearn them.
Should I test my children for LFS?
Another very controversial and personal decision is whether or not children should be tested for Li-Fraumeni Syndrome. Below, parents give insight into how they decided and how testing helped them.
I just tested positive for LFS, what do my test results mean?
LFS is linked to a mutation in the TP53 gene. If you are positive for the mutation, you have the mutation and you have an increased risk of cancer. Hopefully in the future, we will be able to associate risk with specific mutations, but for now we cannot predict if or when someone with LFS will get cancer, so we try to screen pretty comprehensively. There are many factors that lead to the development of cancer. Genetics is just one piece of a complex process.
My test results said I have a VUS (Variant of Unknown Significance). Do I still have LFS?
So you are told you might have a genetic disorder with an insane cancer risk, you get up the nerve to take the test and then the results come back Variant of Unknown Significance. Now what? The same information that led your providers to recommend testing, is still true. Basically right now, researchers cannot link the mutation you have to an increased risk of cancer. It doesn’t mean there isn’t one, we just don’t have the data yet. This is frustrating, but researchers in studies such as PROMPT (http://promptstudy.info/) are collecting data to try and figure this out.
What does having LFS mean?
On a basic level, Li-Fraumeni syndrome is an increased risk of cancer due to a mutation in the TP53 tumor suppressor gene. There is increase risk of rare sarcomas, brain tumors, breast cancers and adrenal cancer, as well as other tumors. Some people inherit LFS, others have LFS due to mutations as they were developing. There is no one size fits all with LFS and there are many mutations that can affect the p53 protein- some are more severe than others. If a person has the criteria for LFS but no identified mutation, it is called LFS-like. In Brazil, there is a predominant mutation that is linked to adrenal cancer and LFS. Other mutations such as CHEK2 are also associated with LFS.
They said I am DeNovo. What is DeNovo?
DeNovo means you are the first in your family to have LFS. Although you can pass LFS along to your children, your parents do not have the mutation or increased risk of cancer.
What is Mosaic?
While there is still a psychological cost to learning that you carry a p53 mutation, many find benefit, both physically and psychologically to screening. Screening allows for cancer to be found earlier in more treatable stages, which is empowering. There is also the psychological reassurance that come when nothing remarkable is found.
All about screening: https://www.livinglfs.org/resources/#screening
MRI’s and kids: https://www.livinglfs.org/mris-and-kids/
MRI contrast safety check: https://www.livinglfs.org/mri-contrast-safety-check/
Should I Avoid CTs and X-rays?
Radiation can cause damage to DNA, therefore it is recommended that those with LFS avoid ionizing radiation where possible. We try to use MRI where possible to reduce exposure, but sometimes Xrays, CTs and other scans are necessary for diagnosis and treatment. It is important to weight the risks versus benefits of these scans with your provider.
MRI vs PET vs CT: https://www.livinglfs.org/comparing-mri-vs-petct/
LIFESTYLE: Living with LFS
Living LFS moderates two closed support groups on Facebook. One for those with LFS and one for family and friends of those with LFS. Simply send a request to join the appropriate group and a moderator will be in touch. The founders of Living LFS met and formed friendships through this support group and it has been a lifeline for many newly diagnosed or veterans during the most dire times. Due to the worldwide reach of the internet- we say someone is usually awake somewhere if you need to reach out to speak with someone who has been there and understands what it is like to LIVE LFS. There is also a Facebook support group for those in Brazil. The George Pantziarka TP53 Trust offers LFS information and support to those in the UK through their Facebook page and website. The Li-Fraumeni Syndrome Association can also be contacted through their webpage and Facebook page.
Is there any diet that is recommended for LFS?
Although there is no diet recommended specifically for LFS, the American Institute for Cancer Research(AICR) has lots of information on what to eat to help prevent cancer as well as staying healthy during treatment.
Colleen Spees: https://www.youtube.com/watch?v=ZflLO2dN2RU
This list of frequently asked questions is a work in progress. If you have a question not yet covered here please contact us.