Thursday, November 4, 2010

Mutants Unite- Li Fraumeni Syndrome Conference

My feelings on the LFS Conference

The excitement electrified the air. People were telling jokes, laughing and filled with the expectation of finally finding answers to questions they had been waiting to hear. Some had been waiting months, from the time they announced the conference, others had waited years, from the time of diagnosis, and a very few of us had been waiting decades to learn that there was a light at the end of the proverbial cancer tunnel. It was our turn- the Last Families Standing. Some had scars they would show off like badges from a hard fought battle that ended in a draw. All had emotional wounds masked by laughter or anger. The division was clear. There were 2 sides to the auditorium as there were 2 very divisive groups brought together by Li Fraumeni Syndrome.

I was disappointed that I was so late getting into town that I missed the meet and greet dinner. Finally, for the first time ever, families who have this rare hereditary mutation were together to share their stories, their experiences and information that had been garnered by years of living, dying and fighting this cancerous monster. As I checked into the hotel, I noticed two separate tables of people in the bar. One sat heatedly discussing battles, throwing around words like cells, treatment, answers, protocol. The other was laughing like a group of old friends, comparing scars and number of cancers survived. These were my people. United by mutation, loss and fear. Surviving through determination, strength and humor. For years I tried to find other families with this mutation. Any others. I asked about support groups, I asked about contact lists. There were too many privacy issues. It’s not something you can stand on a street corner with a sign and get answers about. It’s too rare. There are an estimated 40 families in the US. Based on the fact that each family got 2 representatives- there were 70 family members at dinner- that’s about right. All of the people present were somehow connected through these few institutes represented at the conference- there are others out there. They should have been there. But it was a start. You can’t be too picky when you are starving and you get thrown a bone, there might be some marrow you can suck out of it. And that’s what we are expected to do.

I glance at the room filled with fellow mutants and I recognized a face from the Facebook LFS group, a fellow military mom in this fight. I walked over and introduced myself. We had corresponded many times over the past few months regarding screening protocols for kids, travel arrangements for the area and general health. She’s recovering from her fourth cancer. And amidst her struggles, she does what we all do- she takes the punches all the while trying to protect her children. That’s why we all are there. We are trying to protect the ones we love as we watch each one in turn fight the battle against the cellular monsters trying to invade us. Who will try to beat us down before they kill us. It takes the ones we love and leaves us alone to ponder the meaning or possible purpose for it all. They dangled the proverbial carrot in front of us with key words like current research developments and family support. We responded with enthusiasm.

Chit Chat turned to hours and we got the summary of the dinner we missed. It was heated, sheets of concerns and hopes were written and taken to conference organizers. I was flanked by my aunt and cousin, both also looking for a ray of hope. We all laugh as common jokes surface, a dark humor unique to those faced with the repeated blackness of invasive procedures and debilitating illnesses. We learn the groups split off after dinner, some driven by anger- demanding answers- demanding action some driven to be near other who share the common journey. The stories are all familiar, yet the names and types of cancers vary. Children taken before they are old enough to understand, parents lost, siblings scarred, spouses traumatized. Yet we find a reason to laugh, because our lives have been filled with so much pain and sadness- it’s the only way out.

The NIH is like a compound. Security is tight. One body cavity search shy of airport security. We manage to make it through without any major catastrophe despite my aunt yielding a particularly fierce looking set of tweezers. We find our way to the conference hall and settle in for the day. It’s a full house. The room has stadium style seating and a divider down the middle. We cluster in groups of new friends we met the night before. We each are given a binder of information and I quickly scan it. With the exception of a couple papers on recent studies, there is no new information. It is pretty basic stuff. I am mostly just enjoying the idea of it, I know it is a baby step process. What happens today could be the beginning of something great for us. The Introduction is given by Joseph Fraumeni himself. And so it begins. The conference starts with a bang. Three family members are introduced to speak on patient/family perspectives of the disease. The representatives are well chosen- each tells a story that rings true to every family member in the audience. There are tears, there are nods of understanding and there is applause for the strength it takes to get up there and bear your soul for all to see. A father who lost a child and has another facing multiple cancers pleas for answers and demands a cure. A mother eloquently takes us through decades of monsterous loss and heartache- questions unanswered and hope that someday this will not be the case. A husband who lost a wife too soon and still faces the after effects of the disease with his three children. We know the stories. We are the stories. Each one of us bears these heartaches and more. This is why we are here. We are finally being heard.

But then the focus shifts to the clinical aspects of the disease. Most of the information shared is common knowledge among the families. Most of us at one point or another have enlightened a physician with this knowledge. The day is already going fast and the speakers are rushing to cover all of their information. I am grateful for the binder of notes, yet I have filled up pages of my own- just so I don’t forget. We now are hearing from representatives from other countries and how they screen for LFS cancers. Each country has slightly different protocol. I begin to think it would have been better for all the clinicians to have met first. Some of the information is redundant, and there is never enough time for questions. I am very interested in the data from Brazil. There is a higher than “normal” incidence of LFS in a small community there. I already knew this because when Lily was diagnosed with Adrenocortical Carcinoma, I contacted a leading researcher on the disease- Dr. Ribeiro. He had extensive experience with treating this rare cancer because they found a hot spot in Brazil with over a hundred cases. And I sat there wondering- why? Why this community? Is it the water? Is there a radioactive source nearby? What? Wouldn’t that be a fabulous place to research and find answers? It led to the discovery of a unique mutation related to the p53 mutation and that was the first new piece of information we had received and it was almost noon. My stomach rumbled. The guy next to me continuously played on his phone and didn’t even bother to turn the incessant beep off. I wondered why he was even there. Imagine my surprise when he walked down to the front to speak. He was a researcher- appealing for funds. Yet he provided no new information. The subject he talked on was the psychosocial implications of testing and screening children and teens. If you have been on the LFS circuit you know this is one of THE push button topics. There are people out there who have said it is flat out irresponsible to reproduce with this mutation and I tend to disagree. There are quite a few people out there who are not equipped to meet the normal demands of parenting and so being presented with a child with cancer, multiple cancers or a child’s death is not at all feasible. But it is reality. There are millions of children out there without LFS who get cancer. Ask any 30-40 year old who has yet to get cancer in one of these families and we’ll tell you it sucks- but I am glad to be here. I am glad my children are here and I know that if I don’t make an impact in the LFS world- they will. I know that others have different feelings and that is Ok. I also learned that having a background in genetics and biology helps me to look at this syndrome in a more practical light and most people do not understand the intricacies of genomics,heredity, tumor suppression or biological pathways. It is not as simple as find the gene, fix it and you are cured. Reasearch takes decades. We can only hope that our children’s grandchildren will be so lucky as to have better treatments- I do not think they will see a cure either. I hope I am wrong. But needless to say, the mere glossing over of a MAJOR topic with over generalizations and suggestions to “do what feels right” did not leave me with any warm fuzzies. Perhaps I was hungry. Perhaps the lady 2 seats down crunching away on her second bag of cornnuts was grating on my last nerve. But I felt the important topics were being neglected. I hoped the after lunch speakers would provide some of the direction I was looking for. Latest and Future Research were on the docket as well as splitting off into groups for Support and Advocacy.

Lunch came and went. Even that was rushed to get to the next group of speakers. I and quite a few others had supplies of caffeine for the topic of research. Important, vital, imperative research- but daunting and very difficult to comprehend even for those of us with education in the field. There have been some good advances made. But mostly I learned that there is so much yet to still learn about p53 and it’s role in all this. The implications are there are quite a few other factors that researchers haven’t uncovered yet that come into play. It’s tough to hear. And really that’s why we are there- to put faces to the work. Our presence emphasizes that the research day in and day out is important for our quality of life. The day is rapidly coming to a close and I don’t feel like I have yet found my A-ha moment in the mix. We are split into groups- Families and researchers. We begin our secular discussion. I look at the topics and speakers. With the exception of John Berkley(who moderates the MDJunction Forum( Li Fraumeni Syndrome) there is no actual talk of support or advocacy. There are Advocates for other groups there, but even the Genetic Counselors are not present. How can there be support or advocacy without those trained in this field- those with experience dealing with the complex emotions and trauma that lives filled with multiple cancers and deaths often occurring concurrently? I then realize that they ARE there. That WE are the best support and advocacy for our group. The primary agenda that is given to us is to set up a Patient Organization. It is within the first 10 minutes here that I have my true A ha moment. We are not here so they can help US. WE are there to help THEM. This does not sit well with me. I notice several people leave. I almost wish I had the excuse of a flight to catch so that I could bail and what now feels like a time share set up. The 3 speakers talk exclusively about the technical aspects of setting up a non-profit organization in order to raise funds for research. 2 of the patient “speakers” from earlier are rallying for blood samples to get off to the sample bank for research. That is the first step they say- that is the first step towards a cure. Well if that is all that was wanted- The NIH could have saved themselves thousands of dollars spent by gathering us there and just sent out a letter requesting samples. We would have all given them. We all want answers. We are the best resource and we know it. Giving even 12 vials of blood is minimally invasive or inconvenient compared to the indignities we all suffer in the name of preventative medicine. I wanted more. I wanted someone to say- we hear your stories, we know this has been awful and you have scars to show for it- we are here to help you. Instead we get- here are board of directors members who can tell you how to raise money for our research. Yes prevail upon the people who have lost so much time and money already to this nasty disease. Many of whom may not be here next year this time, THAT is the nature of this Syndrome. I want to help. I am happy to help, but when I said we were looking for support and advocacy I was kinda thinking let’s set up a formal website with all the information and contacts in one place. A place that offers us a chance to connect with others who are also soldiers in this battle. That was the single most important benefit to this conference for us family members. The absolute best part was finally being surrounded by others who know what it is like to lose a family member to cancer, and then another, and then another and then another. Being surrounded by others who feel the impossible weight of possibly being the last of their family line. There was no offer for counseling. No offer for support. Just insurance companies lining the halls to hand out information when we were on breaks. AM I the only one who finds that utterly ironic? Of course there was the odd joke and conspiracy theorist who pointed out we were all being photographed and to be careful drinking the water- but it didn’t seem so out of line as the last meeting of the day.

I don’t like politics. I don’t like pretenses. If dealing with Li Fraumeni Syndrome has taught me anything- it is that Life is too damn short for bullshit. There is a HUGE need for more research on Li Fraumeni Syndrome. Despite the “rareness” of this syndrome and the “few” numbers that it affects- we are THE key to understanding why all cancers exist and what can be done to stop them. We want to help, we will help raise money- it is a very important cause and I am all for it. DO NOT BULLSHIT me. Do not draw me in under the pretense of family support and advocacy- fundraising for research does NOT fall under that umbrella. They are 2 very distinct things. Family support is aid, whether it be emotional, physical, educational or financial. Putting us all in the same room is a start- but you had resources at your disposal to help us, yet the motivation was money. It is a two way street. We are happy to help raise money for your research, but what do we get in return? My daughter has one of the most common tumors in Li Fraumeni Syndrome. It is also one of the tumors with THE worst prognosis. There is a village in Brazil packed with these tumors and people with LFS. This town was discovered over 20 years ago and there is no cure there yet. P53 was discovered over 40 years ago and we still don’t know how its exact role in Li Fraumeni Syndrome plays out. There are too many cancers to effectively recommend a single screening protocol that is both reasonable and successful without severely impacting our already shortened quality of life in a negative way.

I know time and funds are limited. I would have liked to see more quality of life discussion and interface between counselors and families. Most of us just want to be heard and understood. The biggest benefit was meeting and exchanging contact info with other LFS families. I hope that through these connections the true support and advocacy will be found that we all were looking for and when those needs are met- we will be in a healthier state to help raise money to find a cure for this fun filled not at all life altering hereditary syndrome.

1 comment:

  1. 4monkeys,
    I hear you loud and clear. Thank you for sharing.


Lily Kay Monkey

Lily Kay Monkey
November 2008 Photographed by Shelley Detton (7 Layer Studio)