Wednesday, February 15, 2012

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. 

1 comment:

  1. Way to go Jen and all the families who contributed to the beginning of information for many families around the world!


Lily Kay Monkey

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