Rare Diseases Day 2015- What People with LFS Want You to Know

Rare Diseases Day started several years ago as an awareness campaign built on the idea that there is strength in numbers. There is power in numbers and scientific studies are supported by data that is generated by large numbers of participants.  However, this is just not always possible in rare disease world. Organizations such as Global Genes Project and Rarediseasesday.org are working to help unify the rare disease communities. There are about 7000 known rare diseases in the US alone and it is estimated that  80% of those are genetic. Li-Fraumeni Syndrome is one of these diseases.

Poster from Globalgenes.org


However, LFS is so rare that it isn’t even listed in the National Organization of Rare Diseases database. We at Living LFS are working to change that.
One of the objectives of Rare Diseases Day is to give those with rare diseases a platform to be heard. I recently posted the question in our support group:
What is one thing you wish everyone knew about LFS?
As always, the answers were heartfelt, emotional, and representative of the hardships we face living with a hereditary cancer syndrome. Since LFS is rare, knowledgeable doctors are tough to find, especially close by home. Since early detection is the best chance at cure and there are so many possible LFS cancers, the screening can be pretty extensive and quite expensive. This does not count the cost of travel for screening.
But hands down the one thing that most people wanted to impress on others is that there is just such an emotional toll to having cancer looming.  So, we advocate for ourselves and try to chart the best course possible. Here are some things those with LFS would like others to know.

The Cancer Risks Associated with LFS are Staggering:People with LFS are never really done fighting cancer, even if they don’t have cancer or are in remission. LFSers are likely to get multiple cancers and other people in their family are more likely to have it too.    -Anonymous

We aren’t hypochondriacs. When we have lump, bumps, bruises, fevers…they could be a sign of cancer.   -D.R.
  • Men with LFS have a 73% chance of developing cancer in their lifetime.
  • Women with LFS have almost a 100% chance of getting cancer in their lifetime.
  • The risk of developing a second cancer is 57%. The risk of a third, 38%.

On Pediatric Cancer

To me, one of the most devastating parts of LFS is the minis who get cancer. There are only a few hereditary cancer syndromes that include the amount of pediatric cancer.       -Trishia

  • 50% of LFS cancers occur before age 30.
  • Tumors such as adrenocortical carcinoma and choroid plexus tumors are highly correlated with LFS.
  • Other childhood cancers frequently seen in LFS children are brain tumors,  soft tissue sarcomas and osteosarcomas.

On Breast Cancer

The importance of p53 and BRCA genetic testing when you are diagnosed with breast cancer at an early age. Not just important for you but for your family. I know it’s not easy to throw another test into the mix during that time. I believe it’s better to be armed with info.    -Greg

It’s BRCA, on crack.    -Courtney

  • Although it is estimated that LFS is responsible for less than 1% of all breast cancer cases, 4% of women who had breast cancer before age 36 tested positive for LFS.
  • The median age LFS women develop breast cancer is 33 years with 32% of the breast cancers occurring before the age of 30.

On Treatment and Screening

Sometimes a treatment used to fight cancer in the general population can actually cause cancer in mutants.   -Trishia

  • Since radiation therapy is a standard of care for many cancers, it is important to know if one is at risk for LFS since individuals with LFS are at higher risk to develop secondary malignancies from radiation.
  • Although a formal screening protocol for LFS has not officially been adopted in the US, many mutants follow the Toronto Protocol and participate in screening studies available at the NIH and MDAnderson. 
  • These protocols involve bloodwork, clinical exams, ultrasound, colonoscopy, and MRI to try and catch cancers early.
  • Many pay for these tests out of pocket.
    • LFS “core” cancers are Brain, Breast, Adrenocortical, and Sarcoma, but a person with a TP53 mutation can have cancer develop anywhere at any age.


  • Screening can give those with LFS a sense of control over their body. Sometimes this sense of control feels lost with the diagnosis of LFS, like cancer can strike at any time. It does not mean they enjoy going to the doctor, it is a necessity for emotional and physical well being.



On Living

While LFS clearly has physical manifestations in the form of every weird cancer you can imagine, the mental or emotional component, of managing worry, of managing to LIVE, as you track down things in yourself or your children, this is what makes Mutants remarkable. And they are pretty amazing.      -Ann

LFS made me live like there is no tomorrow.  -Daniela

I want people to know that a single error in a base pair on a tiny part of one gene (p53) could cause so much cancer and have such an enormous impact on a family. I would also want people to know that the people with LFS, their caregivers and those involved in its research are HEROES, persistent, resilient, empowered, knowledgeable and inspiring!     -Linda

I’d like everyone to know just how serious this Syndrome is.. and that knowledge is power…. my family that wants to just stick their heads in the sand are playing with fire….  -Deborah

I would want people to understand that LFS is not only a topic the time you are actually fighting cancer. It is still there and still a challenge without a new cancer diagnosis. It is a ongoing and steady physical and emotional fight.    -Sonja

I think the way I described it to my family was like this. You know how if you have any kind of minor malady and look it up online you invariably find references to cancer? It is like if you started looking online about cancer and ended up finding references to LFS.     -Jennifer

I’m really not crazy! 

I hate being told “well at least you know how you’re going to die “??
I’m not contagious.   -Nancy

It turns your life into one crazy roller coaster ride.   -Brandi

Simply put, having LFS means always having a Doctors appointment on the to do list!   -Jen
Sick time is hard to accumulate.   -Courtney
Like many people with rare diseases it can consume our lives and not many people can ever understand…     -Melissa

As Mutants, we would never wish a LFS diagnosis on anyone. It is difficult to see many of the cancer campaigns, not knowing which one to support as we have so many different cancers. It is also difficult to experience the ‘in between times,’ feeling grateful that you are not fighting cancer, but often witnessing family members or friends who are.  In the back of your mind you often wonder when the next tumor will drop.

Yet these are the times that this community rallies and lives to the fullest, because we know first hand that there is no time like the present to live, even with LFS.  We live.

I’d like to thank all of our members who shared their thoughts to help raise awareness for LFS and what it’s like to Live LFS. Thank you, Jen Mallory


NIH Genetics Home Reference – Li Fraumeni Syndrome Gene Review http://www.ncbi.nlm.nih.gov/books/NBK1311/

To Mammogram or Not to Mammogram?

That is a question that many women ask, yet for Li Fraumeni Syndrome ladies, there are even more questions.  According to the American Cancer Society 1 out of every 8 women will develop breast cancer in her lifetime. The risk is significantly higher for women with LFS. It is estimated that 50% of women with the germline p53 mutation will develop breast cancer by age 60.  The median age of diagnosis of breast cancer is 33 with 32% of LFS related breast cancers occurring before 30 years of age and very few after age 50.  For decades,  breast cancer awareness and mammography have gone hand in hand. The logical argument is that early detection saves lives, therefore mammography saves lives. Recently several studies have refuted this logic and addressed the relationship between mortality and mammography. The relationship still is not clear.In order to determine the best practice for screening, it is important to evaluate all of the risks, benefits, physical and emotional impacts. A certified Genetic Counselor is a great resource to have, they are trained with the medical and psychological information needed to help you assess and manage all of your risks based on your family and personal medical history. No two people are the same, neither are their risks.  Mammography has been used extensively since the 1970’s as a means to diagnosing one of the biggest killers of women, breast cancer. The role of mammograms over the years has grown from almost exclusively diagnostic to “preventative” screening. Screening does not “prevent” cancer. Yet catching cancer early, lends itself to more complete treatment and chance at cure. Until recently, mammograms were the best option for the job. There have also been several arguments that the radiation from certain scans, such as Xrays and CTs could actually cause cancer. With the advent of better Magnetic Resonance Imaging(MRI) and Ultrasound methods, mammography is no longer the only imaging option for breasts.

Potential Risk of Mammograms
The American Cancer Society estimates the dose of radiation from 1 mammogram to be similar to the background radiation you would receive in a flight between California and New York. Background radiation is considered to be the amount of ionizing radiation a person receives from the earth, sun and other sources that are currently around them. Time frame wise, a mammogram is about 2 months worth of radiation. A chest Xray is is 5 days and CT’s can be anywhere from 1 year to 6 years worth of background radiation depending on the site studied.  This dose is considered “safe” by the organizations that regulate safety and risk for the average person. The only problem is that people who have germline p53 mutations are not the average; they are more susceptible to genetic damage from ionizing radiation. So how do you screen for potential breast cancers in a high risk population, without exposing them to more radiation? Some long term LFSers have had many mammograms and no breast cancer.  Others avoid mammography if possible. You can use shields to protect your thyroid during the mammogram- but there is still a small chance the radiation can scatter internally to the chest wall. Technicians also are hesitant many times to use shields as they can impede the fit of the breasts and alignment with the plates. This increases the chance multiple xrays would have to be taken in order to get the best images, exposing the breast tissue to further radiation. Relatively speaking, the radiation risk of mammogram is small. If there is suspicion of a cancer lump, it is imperative to follow the recommendations of your provider and many times mammography is the quickest and best way to visualize a potential malignancy.

Recommendations for Women with LFS

There is a difference between diagnostic testing and screening when there are no symptoms. Sometimes when there is a suspected lump or malignancy, the best and quickest way to visualize the area will be to use Xray or CT and this includes a small dose of radiation. The body can handle this, the greater concern is repeated exposures when there isn’t necessarily something that needs to be visualized, as with screening. Having a good relationship with your care team can help you minimize unnecessary exposures for preventative care. If you are concerned about exposure, speak up and never be afraid to ask if there are less damaging alternatives. A good provider will be sensitive to your concerns and work with you to get you the best care with minimal exposure to risk.

*The National Institute of Health recommends that LFS women have “an annual breast MRI and twice annual clinic breast exams beginning at age 20-25. Use of mammography is controversial because of radiation exposure and limited sensitivity. When included, annual mammograms should alternate with breast MRI, one modality every 6 months.”

*MD Anderson recommends annual breast screening using MRI and Ultrasound beginning at age 20-25.  According to their website, “Mammograms(for LFS women) are not usually recommended before age 25-30 because they may not be as effective in young women and because of the radiation involved”.

*At the Li Fraumeni SyndromeWorkshop at NIH in 2010, Dr. Gareth Evans, a leading clinical researcher in the UK presented data on anecdotal evidence for radiation induced second malignancies in LFS patients. He recommended that LFS folks avoid CT as a means of regular screening and use of MRIs for breast screening as a best option for women in their 20’s.

Ultrasound as an Imaging Tool
Ultrasound is a noninvasive and relatively inexpensive tool to image breasts. Often times, ultrasound technology is used to visualize known lesions during breast biopsies. Since ultrasound utilizes radiofrequency, there is also no risk of radiation exposure. This method could be limited because the quality of the screening is dependent on the person operating the machine and radiologist reading the results. The initial studies have been promising for ultrasound as a tool for breast imaging for women in high risk populations.  According to the Society of Breast Imaging, “Women at increased risk of breast cancer because of personal or family history of breast cancer were two to three times more likely to have breast cancer seen only by sonography,”

Don’t Forget to BE
When it comes down to it- as a woman with LFS, you have to consider your personal beliefs in conjunction with your risks. There are so many factors to take into account- such as access to various screening methods, cost, personal history and symptoms. For a woman with no direct family history of breast cancer and access to alternate screening methods such as MRI and ultrasound- these are low risk ways to monitor potential problems. For some, there is little or no access to MRI or it could be cost prohibitive. It is important to be familiar with your body and breasts and pay attention to changes. One method of screening you always have on hand is Self Breast Exam(SBE).  It doesn’t cost anything and it’s painless. You set the hours and routine. Some women have dense, lumpy breasts and self exams as well as screening lead to anxiety and frustration as well as further possible stress and cost to examine the potential malignancy of lumps. These are all considerations when thinking about screening. Ultimately you have to be comfortable with what you choose, that is the most important criteria.

Everyone values different things and have different interpretations of risks. In making a decision as to what screening is right for you, it important to weigh the costs and benefits to you. If you value proactive screening and can’t fathom the possibility of a cancer festering- a more regular regimen of multiple modalities might be instrumental for your peace of mind. One thing to remember is that screening is a choice. In a family cancer syndrome like LFS- we are not given a lot of choices- we don’t know if, when, or where cancer may strike. Taking screening into our hands is a way to control our bodies, our knowledge and how we face this journey into the unknown. It is personal and it can be our own. Let the recommendations be the map- but you get to choose which road you take. Sometimes you may want to hop on a plane from LA to New York- maybe it’s quicker- maybe it’s cheaper-  but that is a choice you get to make.

NIH Gene Review Li Fraumeni Syndrome
Society of Breast Imaging
LFS Conference Webcast