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.

Grey’s Anatomy and Li-Fraumeni

I was doing some work on my computer on Thursday evening when the notification on Facebook got my attention.  I checked in, and saw some LFS chatter.  “Anyone watching Greys Anatomy?”  Apparently there was a storyline about LFS.  I took a break from what I was doing and went to watch.

I do not generally watch the show, but DVR it for when I need some brain candy.  On a day where I need distraction from my worries, I might watch several episodes back to back, fast forwarding through the commercials.  This makes my son laugh, as though we do not have enough doctors and hospitals in our lives.  I am not at all caught up on who is seeing who…  they are Sleepless in Seattle, because everyone is sleeping with each other.

At any rate, one of the medical storylines centered on a family who had a strong cancer history (breast, lung, pancreatic, testicular, brain and bone) One of their teenage daughters, Rory, who had a previous history of brain tumor, presented with likely osteosarcoma. There were questions about whether this was metastatic brain tumor or a novel cancer diagnosis.  It was soon discovered that she also had pulmonary involvement. It was decided that she would have a CT with contrast as part of the staging process.

A large mass was found in her chest, complicating matters because it was vascular and would be a challenge to either remove or biopsy.  It was unclear to the surgeons if this was a third primary cancer or metastatic osteosarcoma.  Given that the patient was 16, and this was at least her second cancer diagnosis, her genetics were considered suspect.

The family was asked to submit saliva samples for genetic testing. They declare that they are “the family that beats cancer…that is what we do!”

A P53 mutation and discovery of Li-Fraumeni Syndrome was established for Rory the same evening that the chest CT and bone biopsy were done.  No one had heard of LFS, and Bailey declared that it was really rare, only perhaps a hundred families in the literature.  The residents were ordered to research on the web, and find case studies at the library in order to help this patient. (If they had only come here–I happen to know some mutants!

The sisters were both 16. (Which begs the question, are they twins?  If not Irish twins, than they must have been fraternal, given the discussion that follows.)  They talked about the problems with knowing your genetic status, Rory indicating that she wished that she didn’t know.  The healthy sister asks Karev if she must know, if she might make her own decision.  Given her age, she was told that she could decide for herself. With encouragement from her sister, she decided not to find out if she carries the mutation.

Rory became unresponsive and was rushed to surgery where the tumor appeared to have ruptured.  The residents worked together and it was suggested that they came up with a solution that they excitedly rush to share with the surgeons, but not in time, as the patient had died. 

The healthy daughter, learning of her sister’s death, impulsively asked for her genetic results and was told in a word, that she has Li-Fraumeni.  She declared that she always wanted to be like her sister and now, she was.

The doctors, regretting the loss of their patient, speculate that they might be able to use this to help the remaining sister.  The residents all go out for a drink.

I turned off the television. I returned to my work and saw many comments from folks who were discouraged with the ending.  We really hate losing mutants, even fictional ones.

I was actually waiting for pathology results on some lymph nodes on my son, who incidentally completed treatment for osteosarcoma less than two years ago.  He has recently been diagnosed with melanoma, stage IIIA…contingent on the status of these nodes.  My daughter had adrenal cancer and a brain tumor.  So, this story, while fiction, really isn’t completely foreign to our experience with regard to the pediatric cancers involved.  We just split them up between two kids…sigh…

I was personally uncomfortable watching them kill off 16 year old with osteosarcoma, likely with massive lung mets. On principle, it was not something I needed to see, given our current position.  However, I am hopeful that by exposing the public to the genetic realities of LFS, that there might be more money directed in the research.

I am hopeful that doctors will become more aware and thoughtful, rather than calling a strong cancer history “bad luck,” and failing to refer patients to genetic counselors.  We have all faced some variation of this response at some time, I believe.  While, no one would deny that repeated cancer diagnosis falls under the “Bad Luck” umbrella, there are things that can be done to change your luck if anyone bothers to find a genetic link. 

We follow the Toronto protocol, and have discovered two cancers in our children that I absolutely know we would not have found in the earlier and more treatable stages, without being proactive.  This recent melanoma is one.  And while I am not happy with my son’s current staging, which calls for a year of interferon, I know that he would have far more advanced disease if we did not know about his LFS status, and had him screened. We would be on a much, much harder road.

Looking at this episode from a fact checking perspective, there were some striking differences between the drama, and how things work in a real hospital.

1. Time warp

In order to make this work in a one hour show, leaving plenty of time for the hook-ups in the on call room (which, lets face it, keeps the ratings up) there is a compression of time.  Biopsy results for osteosarcoma take a week, at least.  They discuss your case at tumor board, and come up with a plan before you learn the results.  Ours took nearly two weeks because they were sent out to another hospital for a second opinion. 

Genetics results take even longer …a month.  And it is a staged process to test a family, generally speaking, with the proband being tested first, and if a mutation is found, then a second round of testing is done with parents and siblings of the proband (and sometimes this part is done in two stages), looking for the identical mutation.  Even when you know what you are looking for, it takes weeks, not hours.  I would love to have the genetic sequencer that Bailey had, because waiting is really hard.

2.  I am pretty sure that LFS is tested with blood samples and not spit. I could be wrong, but everyone I have talked to rolls up a sleeve, rather than ‘thinking about pickles,’ in order to produce ample saliva.  Might just be an easier devise for TV…they certainly have no problem showing lots of blood on this show…and open ghastly wounds.  I am not really sure what that was about.

3.  Genetics, both the decision to test and the manner in which those results are shared, is more controlled and much more thoughtful. A surgeon will not blurt out the results, particularly on the heels of revealing a poor outcome… in a public hallway.  It is just not how it works.

4. Given that genetics results take a month to come in, treatment is generally well underway before that information is available.  Further, when available, it is only one consideration among many.  Sometimes radiation is used, even on mutants.  The giant lung tumor would be what we call ‘the shark closest to the boat’ in this case. Real doctors would recognize that while radiation should be avoided, sometimes it is necessary.  You want to be thoughtful in selecting your weapons, but ultimately you must battle the shark with whatever you have. The genetics would take a back seat.

There were some things that I thought were thoughtfully done.

1.  Putting all of the “faults” aside, which I simply consider creative license, I am glad that they featured Li-Fraumeni. I think that the discussion between the sisters about the burden of “knowing” was the dramatic construct used to condense what happens in genetic counseling sessions.  Knowing does not come without consequences, and you cannot un-ring the bell.  Everyone does not want to know.  You have to be ready.  You have to be sure.

2. The remaining sister upon learning her status, declared that she was glad to be ‘just like her” as she had always wanted. This may seem crazy, because no one wants this horrible predisposition to cancer. There can be survivors guilt, in a way, for someone with a negative status in a family of mutants.  I have a mixed status family.  I have not seen this in my kids, but am on the alert for it.  It is common for people to struggle with being negative.

3.  The part where none of the surgeons had ever heard of Li-Fraumeni, well, that is not just possible, but probable.  We have all had to explain it to doctors at some time…sometimes google searching it for them in the office, or bringing in papers that explain the syndrome.  It is very rare, as Bailey said.  perhaps a hundred of families in the literature.  But with testing becoming more common, and less expensive, more people are being diagnosed all the time.  Unfortunately.

4.  The creative energy of the residents in figuring out a solution…well, I am hopeful about this.  There are physicians who are intellectually curious and passionately determined to help.  It will not happen in an afternoon of brainstorming as the writers of this episode portrayed it.  But, in that same representative fashion, I am hopeful that there will be greater attention brought to Li-Fraumeni, and to the considerations of our genetics.  The residents represent the positive collaborative effect that is currently happening with researchers from institutions all over the world…who study and work together to find solutions for us.

I hope to meet these researchers in the bar at the end of the day.  The first round will be on me.