World Cancer Day 2018- What Mutants Wish you Knew About LFS.

Years ago, we asked our support group members,
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 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.
If you find yourself in need of support- please check out the online support groups or contact us directly- we have many friend in many time zones and someone is usually available to lend an ear CONTACT US. Living LFS has 2 on Facebook and many international organizations also offer support- such as the George Pantziarka TP53 Trust in the UK and the European Li-Fraumeni Families Foundation in the Netherlands. The Li-Fraumeni Syndrome Association partners with the LiFE Consortium and offers research fundraising opportunities as well as support opportunities for select LFS families in the US and worldwide.  Please check out our blog on support for more information! Living LFS Support Groups
Thank you, Jen Mallory

 

References

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