Thank You from Jen.

5 years ago, I learned my Breast Cancer metastasized. I was terrified, angry, but not surprised. A close group of friends I met through the LFS Support Group reassured me that this was not the end, it was a beginning. We met for the first time in person November 2013, in the bar of the Longwood Hotel, Boston. We were the unruly gigglers in the back two rows of the LFS Conference. We reached out to others on breaks, letting them know about our online support group. We shared laughs, tears, stories of hope, stories of loss. We were going to live LFS together, and help others along the way.

I had been to the first LFS conference in 2010 at the NIH. The experience was overwhelming, thrilling, and life changing. I met Dr. Joseph Fraumeni. I absorbed the science like a sponge.  I met lifelong friends there, like John Berkeley, the first President of LFSA. We tried to navigate setting up a nonprofit for LFS while constantly cancering. We teamed up with others, like one of my best mutant friends, Trishia. So much to be done: awareness, advocacy, support, RESEARCH! Yet, it was 3 years later at the bar in Boston, through snarky jokes, expletives and many beverages, a smaller group of constantly cancering mutants decided to focus on the living and the need for support. Living LFS was born based on our values as a misfit group of mutants, with the hope of including all. We offered more than “just support”. We helped others meet up. I became President of this non-profit, with good friends and fierce advocates by my side. Living LFS is my Tribe.

 

In the past 5 years, Living LFS has been my focus. The women who started it with me, my sisterhood of traveling mutants. We laugh at inappropriate things and use the term mutant with the highest regard and endearment.  We set lofty goals – regular meetings, conferences, telling stories about LFS to raise awareness, advocating to helpothers live their best possible life with LFS. From each one of my living LFS sisters, I’ve learned valuable lessons that made my life better. I could not have gotten through the past years without them and you. We are all Living LFS.

 

Over these years, every single one of our board members dealt with cancer personally. There was very little medical quiet for any of us, yet we knew we were not alone. Growing up in a cancer family when there was very little support, it is very important to me that others have options for support.  I am grateful for the professionals who work so hard to help find our families better screening, treatments, and hopefully a cure. I believe whole heartedly in the need for advocacy and awareness. I also know the fear and loneliness that accompanies being diagnosed or living in a family with a hereditary cancer syndrome like LFS. It is overwhelming and frustrating to reach out for support to find there is none.

 

I know what it is like to live where there are not a lot of resources for families with cancer. I know what it is like to have to teach professionals how to spell Li-Fraumeni and pronounce it. I’ve been walked through clinic halls like the rare specimen. I’ve debated risks and benefits of screening and treatments until my brain hurt. (It was not a toomah!) I’ve taken the opportunity to talk with baby-docs and residents about LFS and being a parent of a cancer kid. I’ve spent months calling to schedule appointments, fix billing issues and know friends who have rooms full of paperwork that needs follow up.  Through it all, the most resilient people I’ve met are those living LFS.

 

I know what it’s like to walk into a room full of people and feel absolutely alone until another mutant starts chatting and it’s like you’ve known each other your entire lives. I’ve wished and prayed for B9 for more biopsies on more friends in our support group than most people do in their lives. I’ve laughed at poop jokes and crazy medical happenings and the occasional funeral story. I’ve cried with friends out of fear and loss. I’ve compared scars and chemo craziness.  I’ve been hugged so hard I know broken pieces stuck back together. I’ve learned so much over these years, way more than I shared.  I know there are others like me and I am not alone.

I cannot possibly thank every individual here who gave me back confidence when I doubted, picked up the reins when they fell and guided the team with our mission, towards our vision. To each person who sought me out for a hug, who champions for so many different cancers we face, for our children. For those who do it quietly and do the things no one else wants to do, I see you, thank you.  I must give a huge Thank You to Greg Harper for accepting the nomination to take over as President of Living LFS. He  already dedicates so much time and energy to our community, I am excited to keep working with him on upcoming support initiatives. Like previous founders and board members, once you are living LFS, always living LFS.  I am not leaving, but I need to focus on some personal things – and I can do that, knowing the organization is in good hands.

It is time for me to share Living LFS. Although I am stepping down as President, there are so many good things ahead for us and I will always be a part of the organization. To each and every new friend I’ve made through living LFS, thank you. For giving me support, personally and professionally. For every T-shirt sale, donation, fundraiser, card. Thank you for your time, your kind words, late night calls, messages, long distance visits and shared experiences. Thank you. For helping me create something special. Thank you for helping me LIVE.

 


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

References

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