Life Rafts in Mutant Land.

I got to spend some quality time with my family this past week. My online mutant family, some  of my own mutant family and some non mutant family. Sometimes when we are far away on an island, it's hard because I miss my family so much. The milestones, hanging out for holidays, the craziness. Sometimes I'm glad to be on an island and missing out on some of the craziness. But there is nothing like the loneliness and helplessness you feel when cancer wallops your family over and over and you are an ocean away. Add in I'm not the biggest fan of air travel and the carefully orchestrated planning required to keep our routine afloat- that means my travel plans are thoughtfully considered and often come down to last minute luck. I sit and fretfully worry about the deluge of problems that might befall me anytime if the cancer Gods so much as get a whisper that I might be planning a trip. Yet, we have carefully navigated this superstition and the outlook is good.

When the Li-Fraumeni Association announced the 2016 LFS conference in Columbus, Ohio I was a bit disappointed- Columbus. It's not as far as the east coast, but still a bit of a trek. Of course the last time I was actually in Columbus was 20 some years ago and we merely drove by in 2012 during our summer tour. Man has Columbus changed! The airport and city were clean and very friendly, I was really impressed. The other really big positive was that it was within driving distance for a lot of my family and so many of my online support group friends. Several sponsors of the conference are local to Columbus- Nationwide Children's Hospital, and The Ohio State University. They have worked closely with the Wyss Family(Soccer for Hope), who has been profoundly affected by LFS and has dedicated over a decade to helping foster LFS research and advocacy.  The other bonus is that the Ohio State University has a really good Biotechnology program and I have a high school senior who will be looking into colleges this year. Perfect timing for a mother-son trip and maximization of my traveling to visiting people ratio. Talk about getting your proverbial mutant bang for your buck. Probably shouldn't say that out loud. or at all.

Families, real and acquired can be a tricky business. In mutant land, I've acquired some extra family by choice who are as genetically volatile as I am. I've heard my uncle say more than once that our genes were fished out of the shallow end of the pool. But some of our other ones come from the deep end of the ocean- the ones for resilience and empathy and ability to triage bullshit into a palatable sandwich and laugh about how crappy it tastes. These traits make for some really interesting after conference discussions. Many of which are fueled by adult beverages.

There is no way to get from Hawaii to Ohio without losing a day. Phil, being the dedicated compassionate, wonderful husband he is- not only phenangled travel arrangements, his schedule and childcare for the girls so Phillip and I could attend- he understood how important it was for me to go. The time I got to spend with the younger Phillip was invaluable. He used to be little. He's not anymore. I know most moms wish to slow down the growth, I don't. I'm grateful for every moment, every step. Even the ones that are icky and exhausting and I have to chant over and over- I'm grateful for this. I'm grateful for this. I had a few panic moments of- shit- he might actually be going off to college in a year and I might still be here. That's where the panic set in- I'm not upset we are to this step- we live on an island- he hasn't toured colleges- he doesn't know what's out there, how can I make this happen much less even consider it financially or medically. It makes me momentarily miss normal until I realize there is the illusion and opportunity of normal and this is it. We can't spend weekends driving here and there to peruse the interstate options. He's seen colleges, but he was younger and your perspective changes. Columbus was a good opportunity. He's dealt with diabetes and what it means for him for years, but learning about LFS is more of a gradual education in our family. Gradual in the sense of disaster preparedness training, I set up the foundation of appointments and we work our way into what exactly the risk means as they get older and can understand more. It's lining up your life rafts and hoping you never need them. Sometimes you get schwacked with information rapid fire as the tidal wave of each cancer diagnosis happens. College will be a strategic placement near someone we are close to- so if the shit hits the fan-he is near someone or at least within throwing distance of a lifesaver.

This year, young Phillip came home from AP Biology with a lot of questions- they were learning about TP53 as a tumor suppressor. He was a bit overwhelmed by the implications. But then he started asking questions- how do we treat it- what about this- what about therapy- what's being done in research? I think I want to help find a cure. I will admit that the fervor and hope I had as a young woman about the idea of a "cure" in my lifetime faded a bit by the constant barrage of cancer and loss in my family. As my dad laid dying he never once discouraged me, even though the hope for a cure for him was not even a possibility. He had hope for me and I have hope for my children. Suddenly I mentally transported to 1994, considering college with a sick parent, being unsure of finances and life and this big step- not wanting to be too far from family but wanting to be far enough for some space. I could see the weight on Phillip's shoulders. Normal college kid wants with the shadow of cancer. Taking Phillip to the Columbus achieved so many goals, quality time with each other, family time, learning about our syndrome, and checking out a college. I contacted friends in the area to coordinate visits and managed to line up a tour of OSU with a mutant friend's son. I love it when a plan comes together.

We landed in Columbus early Tuesday morning. Fortunately a room was ready and after 19 hours of short naps on 2 different flights- I was ready for a couple hours of horizontal napping which would refuel me for mutant shenanigans. I woke to texts from arriving friends and so began 4 days of therapy and hope. Like I said, mutants are a bit volatile. Not in the aggressive way, but rather the combustible nature of our cancering. Treatments and screening take time and resources and often times- that time and those resources have to be filched from normal sick leave and budgets. It is not easy to find a chunk of time or money to make it to a conference in Ohio. We tried to help as much as we could through Living LFS, and there were quite a few scholarships granted from the other sponsors- which helped many get there who would haven't otherwise been able to. The therapy was immediate and tangible- usually in the form of laughter through tears- the best kind of tears. The evidence of wounds gradually healing and sadness released into the wild. It is a rare gift to be able to meet friends you've met online and feel like you've known each other forever. This wouldn't have been possible without donations(remember those fun t-shirts?! yep- THANK YOU!) and the sponsorships. It was also great to see the number of family members and researchers that took the effort to be there. When you have a really super rare disease and you get to be in a room with a couple hundred others who get it, who are all working towards the same goal- it's pretty inspirational. And humbling. And exciting. And let's face it- mutants are awesome and so are their families.

I got to hug old friends who I haven't seen since the very first 2010 NIH LFS conference, new friends we met in Boston and Portland and new new friends who will now be the Columbus friends. I talked with mutants about how to talk to kids about LFS, how Phil handles being a spouse and the ever present balance of loss and hope. I talked with researchers about new developments in adrenal cancer, like Lily's and mouse models for LFS. I talked with Genetic Counselors about resources and needs in the community, the possibility and hope for family camps. Talk about one of the many times I wish I could clone myself- so I could just sit and talk with everyone.  Yet in true mutant fashion- we packed as much as humanly possible into the short time we had. We set up a Living LFS table with hand outs and information and of course- hugs and support. The young Phillip got to sleep in and decompress from 4 AP exams the previous week but also got to chat with people about LFS and hang out with family. It was meaningful to look over and see him respectfully trying to communicate with a pediatric oncologist from Japan or hanging with Aunt Kathy and Uncle Tom. Or to look across the room and see my uncle chatting with a friend we met in Portland. Or to see my mom and aunt hugging a friend from the support group who just lost her daughter.

We talked a lot about the ones we lost, in a way where you didn't feel overwhelmed by the loss of it, but in a way you  feel when you talk to someone who understands, who has been there. In ways that honored their memory. In a way that says- LFS sucks but look there's a life raft off there in the distance- the hope for a better LFS reality! You say their names and it doesn't sting, it feels like you are saying hi to them. You skip the conventional formalities and jump right to the heart of communicating and relating. Sometimes it's difficult to interject Bob and Dad into conversation without the emphasis on loss- I've dealt with it, but sometimes the people you talk to have a tough time. There are awkward silences and discomfort. But in this group, I could talk about them freely and there was none of that, just hugs of encouragement and nods of understanding. I missed Bob and Dad, as I do every day. Having my son, mom, cousin, aunt and uncle there with me fulfilled a need I didn't really realize I had until then. I missed my aunts. I missed my cousins. It was nice to have a strong Connolly contingent there.  I know for many it's hard, these gatherings sometime emphasize the loss.  Feeling lonely in a sea of people. Until you connect with others who are floating in their raft- fishing for those qualities in the deep end of the ocean and you latch your rafts together. And I realized that in taking Phillip to this one conference in Columbus, I opened up some options for college. Not just OSU, which he was really really impressed by- but the number of potential life rafts grew exponentially as he got to know the residents of Mutant Land. And although we are not genetically family in the normal sense, we are linked by mutations and common challenges and just like I'd toss a raft out for any one of them, I feel pretty confident there are safety options available for him. I remember going off to college and feeling bad that Bob never had that opportunity. I look forward to the day that LFS is a more easily managed condition- like diabetes and conferences like this one are a huge step in that direction. There was realism, there was hope, and there was family. And as Phillip and I settled into our seats on the plane in Columbus, I felt sad to be leaving because in our world- you never really know which visit will be the last. No one does really. Then the captain came on to welcome us aboard and introduce himself, Captain John Connolly. Which is my dad's name. And I thought what are the odds and knew we wouldn't be needing the life raft today.

Li Fraumeni Syndrome Support Group

Li Fraumeni Syndrome is caused by a mutation to a tumor suppressor gene. In even the best case scenario- a mutation here is not a good thing.  p53 has been called the "guardian of the genome" and plays a HUGE role in making sure cancer doesn't go haywire. It makes sure DNA damage gets noticed and repaired,it makes sure the cell isn't reproducing like a bunny while damaged, and if it can't get a cell repaired- it makes sure the cell dies. It's a pretty cool thing. Except when you don't have it. Then you have p53 envy, you find you have a huge risk of getting cancer- and not just one cancer- many cancers over your lifetime. Kids who have the p53 mutation get more cancers than those who don't and I'm not the first to say- nor will I be the last to say- Kids should never, ever get cancer. It's just not right. That fact, especially when the tumors are brain or adrenal,  is actually one of the BIG flags to doctors that a family might have a mutation like the p53.

I learned about Li Fraumeni Syndrome in the late 80's, early 90's. My brother had just been diagnosed with a brain tumor, months after my cousin had been diagnosed with a brain tumor. An aunt and an uncle were also diagnosed with cancer during these months. Our first thought was- stop drinking the flipping water- but then an amazing article hit the newsstands about these doctors in Boston who were studying family cancers- especially brain tumors. My grandfather died of a brain tumor- so my mom grabbed the phone and started making calls. She talked with a young doctor named Frederick Li who sympathized with our situation, but my brother passed too quickly to be helpful to their studies- there was no biological material. It was mentioned that if my dad were to get a brain tumor- that would be an interesting case study and please let them know. 3 years later, my mother had to make that call. My father was tested, he had the mutation. There were many sleepless nights spent discussing the implications for me and being tested. They let me have the choice. In true 17 year old fashion- I said- um No, thanks, can I go out with my friends? I didn't want to know. I wanted to live, I didn't want to be shackled with the burden of knowing that I was going to die of some rare painful cancer. From what I saw with my dad and brother- knowing vs. not knowing didn't change the outcome one darn bit. That harsh reality came crashing down around me in 2008 when my 3 year old was diagnosed with adrenal cancer. I thought for sure she had a brain tumor. I had gotten a degree in molcular biology, I studied genetics- we talked about Li Fraumeni Syndrome- I never processed that adrenocortical cancers were one of the main syndrome cancers. I had done my research. Before it was Li Fraumeni Syndrome, it was called SBLA- but not in any circles that I was in. It was a wikipedia article that I stumbled on when I was looking up adrenal hyperplasia that brought that to light. It happened to be the day before my son's surgeon called with a referral to an endocrinologist for his pancreas injury-I asked her about my daughter's symptoms and told her our family cancer history and she gave Lily a referral to endocrinology too. This after 2 pediatricians told me not to worry about precocious puberty in a 3 year old- it could happen.

So I called the doctors that studied my family in the 90's and I asked what to do for my other kids, I wanted to know the benefits of testing them. They were supportive and helpful and I also learned about an upcoming conference the following year. It had been decades, but my assumption was this was so rare- there weren't very many other families out there. I wanted to be there. I wanted to meet the others. I wanted to see if they learned to laugh through the tears like my family does- because sometimes laughter is the only medicine.  I wanted to see what progress had been made and where things stood. I wanted hope that my children wouldn't have to watch me die from cancer and I sure as heck don't want to see any of them go through it over and over. At this conference I met others who wanted, like me- to help support each other and work together to find better treatments, screening and ultimately a cure. We are tired of watching our families suffer. We want to help bring together all the different facets of knowledge, research, and experience with this syndrome. We want to be the link the connects the disease to the cure. We are that link. It will take time, and sometimes more time than those with LFS are given. I was so saddened to hear that a lady I met at the conference recently passed. It was agonizing to lose a friend in December who I met because of this disease. But these were two amazing, strong women. 2 women who brought so much love and light to those around them and who both had so much more living to do, but couldn't because of LFS. Since we started in 2009, we have hit lots of bumps and several new cancers in our group. That is the nature of the beast. But through people with Li Fraumeni Syndrome is a better understanding of cancer and through this understanding will be a cure!  If you are interested in donating time to a great cause- check out our support groups at Facebook- we welcome help with open arms. There is one for those with LFS and one for Friends and Family.  But most of all I have to thank my monkeys and my husband who have dealt with a pretty messy house and a scattered mom- but do so gracefully so that I can try to help create something that will do so much good.

https://www.facebook.com/groups/90503981891/