Boston and the LFS conference!

Hotel view of the city!

Duck Tour! 80 minutes of sightseeing on land and in water!

Dinner at Cheers on Beacon Hill!

Mom and I dining at Cheers!

The Li Fraumeni Syndrome conference, and our weekend in Boston, was wonderful! It was a whirlwind, but our trips usually are.

The conference was all day Saturday (hosted by the Li Fraumeni Syndrome Association, which is only a few years old) at the Dana-Farber Cancer Institute. There were a variety of sessions, including center updates from doctors from around the world, including the UK, Brazil, Japan and Canada, in addition to the United States. It showed me that doctors everywhere are exploring LFS and trying to learn as much as possible about it, AND are making great strides.

Some of the findings were fairly similar (discussions about the p53 mutation, common cancers associated with LFS, etc.), and some were different, such as a study being done with elephants and how they have like 20 copies of the p53 gene. Because of this (and because the p53 gene is a tumor suppressor gene), elephants never get cancer. Because even if one of the genes becomes damaged or stops working, there are plenty of other copies.

What I found interesting, and this is something I didn’t know, is that Leukemia (including the kind I had, which was ALL) is actually very UNCOMMON in LFS, accounting for only 3 to 5 percent of the cases in those with LFS. As I kind of knew, breast cancer was one of the most common, followed by, in no order, adrenal cancers, soft tissue sarcomas, thyroid cancer and brain cancer. Melanoma, stomach cancer, blood cancers (Leukemia), colon cancer, and many others also make up the cancers commonly seen in those with LFS.

And like I had hoped, I met a lot of other families with LFS. During one portion of the conference two separate people told their personal experiences with LFS. One, a man in his 40s, had cancer as a child. Only a few years after his first cancer, his brother got cancer, and then his father. Years later he got, and survived, his second cancer, but lost both his brother and father to cancer. The other speaker, a woman, is found to have mosaic LFS (in some of her cells but not all of her cells, like was found in my blood), and two of her four children have LFS. One of them had cancer twice before the age of 11, the other one has had cancer once.

I also met a woman who was with her daughter, who had LFS, and had faced a few cancers. The woman had lost two children to cancer and some of her other children also had had cancer. Her daughter, who was 26, was worried about getting breast cancer and wondered about screenings and mastectomies, which I ended up talking to her about.

Just a note before I continue, so you better understand my LFS since it’s been a while since I talked about it in great detail:

It is confirmed I have LFS in two places: in my tissue (both healthy tissue and tumor tissue – taken from my breast cancer tumor), and in my blood. Though in my blood it is found in some of the cells but not all of the cells, which is what is called a mosaicism. My case and personal cancer histories seemed to be very different than some of the people with LFS at the conference. Similar: we all had multiple cancers present early (childhood and young adulthood). But different: different types of cancer.

There was also a lot of talk about the LFS gene being passed along from parent to child. Essentially the chance is 50-50. I knew this already, but there was a lot of confusion at the conference from parents who tested negative for the gene, but had kids with LFS. (Or my mom who tested negative, but cancer and/or LFS, we THINK, clearly comes from her side because her brother died of childhood Leukemia and her father died of liposarcoma. Both of those cancers are considered LFS cancers.)

There was a woman who tested negative but pretty much everyone in her family, including multiple children, had had, are dealing with, or died of cancer. And she couldn’t understand where the mutation came from.

We could speculate all day about those cases, or my case, but the truth is we don’t know yet. My mutation could have happened at conception or it could be from my mom’s side of the family. Our next step is to reach out to Dana-Farber (we spoke with a geneticist at the conference) and perhaps test my mother’s father’s tissue to see if he carries the mutation.

Of that information, of the doctors’ updates, nothing really surprised me. That doesn’t mean I didn’t learn a lot, because I did, but I didn’t learn anything new that surprised me.

My questions remain: what screenings should I be getting? From the conference it became pretty clear that while doctors today do not know for sure if early and often screenings are beneficial to patients with LFS, it seems to be the standard protocol for detection. And it became clear to ME that I want to start getting annual full-body MRIs, which is the one main screening I’m not doing yet. Once the NIH study moves forward (which I have been told I qualify for), I can start getting my screenings at the NIH in Bethesda, and they will be covered financially. Otherwise I will need to request them through my doctors, and we will have to pay out of pocket.

The conference also re-confirmed it is advised that patients with LFS avoid radiation whenever possible, and opt out of radiation treatment for cancer unless absolutely necessary. So I continue to avoid the scans at the airport, refuse dental X-rays more than every 3-4 years, and try not to get scans. (More on this later – perhaps another post – about what it’s like to continuously explain yourself to airport staff and dental technicians.) Ultrasounds are preferred.

Anyway, I could go on forever. There was lots of information. Nothing too surprising. But I did learn a lot. And I met other families. And yes, it was emotional, especially hearing some of the patients speak. The man who spoke sounded a lot like myself. Yes, he did have, and has, a different journey with different obstacles, different pain, etc., his whole message was inspirational. He talked about the pain of his personal cancers, watching his little brother get his leg cut off from cancer, and cycling across the country with his dad because it was his last and dying wish. His life has been painful. LFS has been painful for his whole family. But he decided not to let fear control his life, and find beauty and meaning in the everyday. He decided to live each day fully. When he talked about riding a bike across the country with his dad, he said at first he was hesitant, thought his dad was crazy and didn’t fully understand it, but he soon realized he didn’t have to understand it. His dad wanted this. So they did it.

It made me think of myself and Tour de Pink. It was just something I had to do.

The conference was informative. I’m glad I went, glad I was able to connect with other LFS families. Glad I was able to connect with the LFSA which I foresee being a larger part of my life now. Glad I was able to connect with multiple doctors and geneticists and tell them about my story and ask them questions. Glad Sean and my mom joined me in taking in all of the information.

I left inspired: work is being done, at all times, all around the world, to help figure out this complex thing called LFS.

Because of research, LFS cancers may be treated differently in the future, resulting in better outcomes.

Because of research we might one day have actual real screening guidelines so I won’t have to guess when I should be getting a colonoscopy or how often to have dental X-rays, or any X-rays.

I left not feeling scared. I have no additional fears or worries about getting cancer again. It’s the same level it’s always been. I don’t really have time to worry. I’m pretty busy.

And while I’m sometimes kinda worrying, work is being done, all over the world. The p53 mutation is so complex. Its cancers are so complex, the patients so complex. But we know it exists and doctors are doing something about it.

In the meantime I can feel pretty confident about my own screening plan and the way I live my life. It won’t change because of the conference. I can only do my best and hope for better in the future.

And Boston was amazing! I wish we had more time there! We squeezed a lot of fun and sightseeing into Saturday night and Sunday morning and afternoon, including dinner at the original Cheers (called the Bull and Finch pub) on Beacon Hill, watching the Penn State game at The Greatest Bar with the Penn State Alumni Association in Boston, Duck Tour on land and water, and an awesome lunch of lattes and pizza at Pappa Razzi on Newbury Street, surrounded by cute little boutiques and cupcake shops.

I hope to be more involved with the LFSA in the future, and hope to further connect with other patients around the country, and maybe the world. Because although yes, their stories are scary and heart-wrenching, being a part of each other’s world offers more hope than not.

As the LFSA said at the conference: You are not alone. We are one.

A lot of questions remain and a lot of work still has to be done. But I’m doing my best with what I have now. And that’s good enough for me.

What an amazing time in the world to see his research develop before my very eyes? Thank you to the doctors. Without you, none of this would have a name.

You can learn more about the LFSA here: www.lfsassociation.org.

Following is the conference agenda taken from the LFSA website:

8:00am – 8:30am
Registration / Continental Breakfast

8:30am – 8:40am
Welcoming Remarks
Judy Garber and Kathy Schneider
David Malkin for the Consortium

8:40am – 10:00am
Research UpdatesUri Tabori, Toronto – Brain Tumors
Simone Hettmer, Boston – Anaplastic Rhabdomyosarcoma
Thierry Frebourg, Rouen – Functional Assays
Melissa Alderfer, Philadelphia – Testing Children for LFS

10:00am – 10:20am
LFSA UpdateJenn Perry and Rob Lufkin, Li-Fraumeni Syndrome Association

10:20am – 10:45am
COFFEE BREAK

10:45am – 12:30pm
Center UpdatesMaria Isabel Achatz, Sao Paulo, Brazil
Louise Strong, Houston, TX, USA
Jeffrey Weitzel, Duarte, CA, USA
Wen-Yi Wang, Houston, TX, USA
Phuong Mai, Bethesda, MD, USA
Emma Killick, Sutton, UK
David Malkin, Toronto, Canada
Josh Schiffman, Salt Lake City, UT, USA
Judy Garber, Boston, MA, USA
Yukiko Tsunematsu, Tokyo, Japan

12:30pm – 1:15pm
LUNCH

1:15pm – 2:00pm
Living with LFS: Fireside Chathosted by Judy Garber and David Malkin

2:00pm
ICE CREAM SOCIAL

2:30pm – 4:15pm
LFSA WorkshopJenn Perry and Susan Faulkner – LFSA and You!
Bonita Kline and Georgia Engrebretson – LFS Community

4:15 – 4:30pm
Closing RemarksJudy Garber

Above:  some pics from Boston, including our hotel view, Duck Tour bus/boat, and dinner at Cheers!