My daughter, Whitney, was diagnosed with Breast Cancer 2007 at the age of 24. She had the genetic testing and was triple negative with NO family history of Cancer. It wasn’t until 4 years later that she found a lump on her clavicle was diagnosed with Radiation Induced Sarcoma, which another genetic test was done for Li-Freemen Syndrome. In the spring of 2012, Whitney was diagnosed with Li-Fraumeni Syndrome (LFS), a very rare, genetic disease that can predispose a person to nine different soft tissue cancers in their lifetime. In Whitney's case according to the Chrompet Criteria (applies to persons under age 30, with no family history of cancer and without detectible BRAC1 and BRAC2 mutations) she should have been tested for LFS in 2007. With this additional information, we now know why Whitney got breast cancer at such a young age.
Inevitably, there is more than a 90% chance of an LFS patient having at least one or more of these nine cancers in their lifetime. Plus there is a 60% chance of passing on the gene to your children. Most individuals never even know that they are carriers of this disease until multiple members in their family are affected and a doctor can connect the dots and suggest specific genetic testing. Whitney is still a Breast Cancer Survivor but she lost her battle to metastatic Radiation induced Sarcoma 11/11/12 @ 11:11. It is now my mission to help educate others about LFS so others don’t have to live with the unknown.
In the 40+ years since the founding of this rare disease there has been little to no medical advances. In 2010, there was a conference at the National Institutes of Health in Washington, DC (NIH) where doctors and LFS patients came together for the first time. At the end of the conference, a group of patients and caregivers pro-actively collaborated to form the Li Fraumeni Syndrome Association.
There are currently 3,000 known LFS patients globally –– although there is strong belief that many more exist when genetic testing is offered to families with history of multiple cancers.
The LFSA has provided family support resources, conducted webinars, established two medical research funds and organized an international conference to continue collaboration between physicians and patients. We are now positioned to actively pursue the necessary fundraising dollars required to invest in the science at our LFS Centers which will, in turn, allow us to make significant advances in healthcare and patient awareness, family support, and bring this disease to the forefront for patients, researchers and clinicians alike.
In order for our LFS. organization to have a greater impact on the families affected by this disease, I am asking for your help. LFS may only be in its infancy in terms of medical and patient awareness — but it is only too real for me, my family, and 3,000 other families. The only way to get to the next level is with your support.
I deeply appreciate ANY contribution of ANY size. No contribution is too small!
With Much Love & Light 11:11