Voices Across America

Li Fraumeni Syndrome took most of Kathy’s family


State: Pennsylvania
Congressional District: PA09


Cancer, Genetic Disease, Rare Disease

Issues and Challenges

Kathy has encountered: Copay Issues, Insurance Issues, Caregiving, Prior Authorization

My Story

My name is Kathy Higgins. I am a parent advocate for the Li Fraumeni Syndrome Associaton.org. Li Fraumeni Syndrome is a rare genetic disorder that involves cancer. Our cancer suppressor gene does not work correctly and causes us to get cancer at a very high rate compared to the general population.
Li-Fraumeni syndrome (LFS) is an inherited predisposition to a wide range of certain cancers caused by pathogenic TP53 germline variants. In LFS, the TP53 is unable to function properly to prevent cancer cells from developing.

In LFS, both children and adults are susceptible to developing multiple cancers, most notably soft tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Cancers generally occur in age-related phases. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, skin, and prostate among others. Children who survive their first cancer have an increased risk of developing another primary cancer.

Individuals with LFS have an approximately 50% chance of developing cancer by age 40, and up to a 90% percent chance by age 60. Females with LFS have a risk as high as a 90% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer.

My journey into the LFS world began in 2003 with the death of our daughter Maureen at age 18. It was at this point that doctors began to investigate our family medical history. It was then that it was suggested that there was an underlying cause for all the cancers we had been through.

The genetic counselor took a medical history of our family to see if there was a pattern. It turns out that there was a very clear pattern of cancers in our family that pointed to a very strong possibility we had LFS in our family. When we gave a breakdown of the family members, we had that had cancer, it became clear. My father-in-law had passed away at age 37 in 1967 from a brain tumor, my sister-in-law age 32 had 3 cancers, breast cancer at 25, cervical cancer and leukemia all within a 3 year period and passed away at 32 in 1993, my daughter Kerry had an osteosarcoma in her leg at age 12 in 1995, and our daughter Maureen had an adrenocortical carcinoma in 2002 at age 18. She passed away in 2003 from complications of cancer.
It was at this point that it was decided that genetic testing was necessary to confirm the doctor’s suspicions. Maureen had already passed away, so no test was done on her. Kerry was tested and found to be positive for LFS. Maureen was a twin, and her twin was tested and found to be negative for LFS. At the time the girls were tested, we did not have medical insurance for my husband, so no genetic test was done. He was presumed to be positive since there was no history on my side of the family. The doctors just started surveillance on him as if he did have LFS to be safe. Kerry began being monitored closely as well and began breast MRI’s due to the high rate of cancer. She was only 20 at the time. It was discovered that Kerry had precancerous cells in her milk duct at age 22 and a double mastectomy and breast reconstruction was done immediately.
Kerry’s breast cancer returned in 2011 and due to no post-surgery follow-up, the cancer had spread to her liver at which time we were told she had approximately 3-5 years to live. Kerry died 3 years later in 2014 from metastatic breast cancer even though she had no breasts.

My parent advocacy work began shortly after Kerry passed. I felt that I needed to do something to try to make a difference for other families that may have the same condition we had and were unaware of it. Our thought before our LFS diagnosis was that we were an unlucky cancer family, that cancer just “ran” in our family. In almost all cases of cancer families, it has an underlying cause for the cancer whether environmental or genetic. My desire was to spread the word about LFS and the importance of genetic testing to help others. I knew that I could not bring my girls back, but I could honor their valiant fight against cancer by using my knowledge to help others.

I have spent the last 7 years actively traveling the country doing medical conferences, trade shows, lobbying on Capitol Hill for rare diseases and legislation to help families with rare diseases. I raise awareness for LFS wherever I can as well as the importance for getting genetic testing. Genetic testing and our LFS diagnosis have helped save my family’s lives and has led to our ability to stop LFS within our family by op􀆟ng to use preimplantation genetic testing to only use healthy non LFS carrying eggs when Kerry wanted to have children. This is where the statement knowledge is power is so true.

My Motivation and Inspiration

This disease has taken the life of 2 of my daughters as well as my father-in -law and sister-in-law. I became a patient advocate in 2014 after the death of my second daughter.

I felt the need to make a difference and help spread the word about LFS so no other families went through what we did by not knowing we had a genetic reason for all the cancers we were getting. I try to honor the valiant fight our girls fought with their cancer journey to help other families. I cannot bring my girls back but I can do my best to make a difference to other families. We are stronger together. My husband did not present with his first cancer until he was 57 years old about 6 months after Kerry died. Since 2014 he has had 6 cancers. With the knowledge that he has LFS, we have been able to catch all the cancers at a very early stage and he is currently cancer free.

Our advocacy work will continue as long as we are able to do it. We feel extremely honored and grateful for the opportunities we have been given to make a difference. I will wrap up this story by asking that you remember my story and keep it in the back of your mind if you ever hear of a family that is suffering from many cancers and they do not know why. Everyone knows someone that has been touched by cancer.

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