Kortne’s Story about Learning to Live with LFS

“If you were me what would you do?”

Working as a nurse, I have been asked this question so many times. It wasn’t until I was the one asking this same question, that I could truly identify with the countless number of emotions hidden behind it. Behind this question is so much more,

it is an unsure where to start feeling,

a feeling of being scared beyond belief,

it is anxiety,

it is needing assurance,

it is searching for empowerment.

This question is the first step of processing a cancer diagnosis that is so unfair and so unwanted.

Dealing with cancer and receiving an unwanted diagnoses is a foreign world.

Understanding the disease process

awaiting pending pathology reports and diagnostic testing

preparing for ultimately bad news.

For me, this foreign world has become too familiar. Cancer chose me not once …not twice…not even three times. FOUR. Four times cancer chose me. I never chose it or anything that comes along with it! I hate cancer. But Guess what? I’m still living, I’m still enjoying my life, I’m still fighting.  As much as I hate to admit, cancer taught me so much about myself and about life. It’s easy to forget how precious being alive really is!

My first battle with cancer was at age 9. I had a rare type of sarcoma called a liposarcoma. After many appointments, tests, and scans the team of doctors recommended surgical resection. 2 surgeries later, I was deemed cancer free. Going through this experience at such a young age made me grow up faster than others my age and process thoughts that children should not have to worry about. That was my first cancer; it was also my first cancer life lesson. One that had a lasting impact on my life.

My first cancer was the “ah-ha” moment that inspired me to want to become a nurse. I like to think that this was cancer’s way to open my eyes, my heart, and my mind to see that I needed to help others through medicine. If it wasn’t for cancer would I still have dreamed of becoming a nurse to help others like I was helped? No one knows.

15 years later I received my 2nd cancer diagnosis, this time melanoma. I was guilty of using the tanning bed and laying out in the sun as any teenager does. Did I think it would cause a minor sun burn at times? Yes. Did I think it wound cause melanoma, the deadliest type of skin cancer there is? Absolutely not. I wish I knew then what I know now!

The plan of attack this time was surgery with a wide local excision to remove the cancer and check my lymph nodes with a sentinel lymph node biopsy.  Then they had to cover the gouged out area (think a putt-putt golf course hole) with a skin graph. I felt fortunate that the cancer had not spread to my lymph nodes and no further treatment was necessary. My prayers were answered and I was blessed. My life resumed, I got married, my career advanced, yet there was always a small cloud of fear hanging over me that this cancer would return or metastasize to other areas of my body.

I just could not have predicted the hard hitting craziness 3 years later in 2017. I got my flu shot the second week in October.  1 week later I developed sudden numbness and tingling in my right arm and hand, the same arm as my flu shot.  Of course I downplayed it and tried to convince myself it was a reaction to the flu shot. Nurses have a bad habit of self persuasion. It continued the next day and on the 3rd day, while I was driving to work I went to press the brake and my right leg wouldn’t move. I knew I could no longer downplay this and convince myself it was from the flu shot, it was in my best interest to see my doctor immediately.  Deep down in my heart I knew it was more.

I was scheduled for a same day MRI. As a nurse, I knew all of the symptoms I had suddenly developed over the course of 3 days pointed toward some kind of neurological diagnosis. I refused to accept that possibility. As the MRI techs locked the “bird cage” over my head, the  fear of what the MRI might show hit me all at once. I do not remember a time in my life that I had ever been so scared. The tears flowed as I was slid into the machine. I just did not want to know, but needed to know so bad all at the same time.  I was walking out of the imaging center, my phone rang and my heart dropped.

“I am so sorry I have to tell you this but the MRI showed that you have a brain tumor.”

I had so many emotions,

so many questions,

so many thoughts,

yet I was numb and spaced out.

Every bit of my medical knowledge went away and I was left with nothing not say. I needed time to absorb and time to think.

That same night as my husband and I laid there attempting to sleep, I must have had a strange feeling because I said to him in my serious patient education nurse voice “do you know what to do just in case I were to have a seizure? Not that I’m going to or anything but just in case I were to ever down the road – just roll me onto my left side and call 911.” 3ish hours later he did just that. Things moved so fast from there.

Less than 2 weeks later November 9, 2017 . I was anxiously rolling into my awake craniotomy. I knew it would forever change my life. The outcome was uncertain. I was as still and calm as possible because I knew that on the other side of the sterile drape was the man my husband, parents and I had trusted to cut into my brain. My brain!!! So crazy to think about! As the hours went by, I was constantly communicating with the physician’s assistant who was under the drape with me, evaluating my neurological status the entire time. He never left me and I was not fearful because I wasn’t alone under there.

Flash card after flash card and a series of zings and zaps to test for feeling in my limbs and it was finally time for the intra-op MRI. This showed a small amount of residual tumor and my surgeon elected to go back in after it. At this point, he said I would be put to sleep for the last part of the surgery and would wake up in recovery. Call me crazy, but I asked to be allowed to stay awake for the remainder of surgery. My thoughts were- if I was asleep I would not be able to tell the surgical team if I had any “weird feelings or sensations.” I was the only one who knew what I was feeling in my own body and I wanted to make sure I did everything in my power to get the best end result! It was no surprise that I was the first patient to ever make this request. Maybe it is my interest in the medical world or maybe I’m just crazy.

Living with a Brain Cancer diagnosis turns your world upside down. There is no cure. The pathology of my tumor came back, Astrocytoma Grade II. With this diagnosis and it being my 3rd primary cancer, I was referred for genetic testing. Genetic Test results came back showing that I have a condition called Li-Fraumeni Syndrome (LFS) which is linked to a mutation in the TP53 tumor suppressor gene. People with this mutation have a much higher risk of developing cancer or multiple cancers in their lifetime. Mission accomplished, I guess.

I previously thought that I had to be the unluckiest human on the planet. The diagnosis helped make sense of the cancer, finally an answer. LFS is not only emotionally overwhelming but comes with an overwhelming amount of MRIs and other screenings. This caused a new condition- extreme “scanxiety” being fearful of what may be found and what possibilities I could face next. I  completed the recommended imaging and all that was left on the to-do list was an EGD and a colonoscopy.  I was not particularly worried about either since the MRI of my chest, abdomen, and pelvis showed no signs of malignancy. I figured I had nothing to worry about, right?

After waking up from the procedure I was told the doctor would come talk to me in a small room outside of the recovery suite. “EGD looked great, but there is an area in your descending colon that I am very concerned is cancer.” A phone call a few hours later confirmed that I did indeed have colon cancer. The news itself was terrible and the fact that I had been diagnosed with brain cancer 4 months earlier made it almost impossible to process. I was reminded again how much I hate cancer.

In April 2018, I had a a left colectomy and lymph nodes removed. The pathology returned as stage 3b with lymph node involvement. My medical team’s treatment plan for me is 12 cycles of FOLFOX chemotherapy.  My personal life plan remains the same as always, to be tougher than cancer, any and all cancers. I want to be the light to others and share my story to show that even though sometimes cancer tries to suck the life out of us, we can not let it.

Life can still be wonderful in countless ways! We are blessed in so many ways.
It’s hard to figure out how exactly to plan like you will live forever while living like you are dying at the same time. I do not know what my future holds and the unknown is always the scariest part! Being only 28, this is an “adulting” situation I still have to figure out. The one thing I do know is that LFS and cancer has changed my life and the lives of my family and those who love me. I have faith in God’s plan for my life and that good will come from all of the bad.

I stopped thinking I have to have a 5 year plan or a 10 year plan and learned to just live.

To make the most of every day.

To do the things that make you happy.

To spend your time with those that mean the most.

To find the goodness in tragedy.

To go on the trips.

To take lots of pictures.

To cherish making memories.

To love all the sloppy dog kisses.

To eat macaroni and cheese for breakfast.

To try new things. To learn new things.

To be kind to everyone you meet.

To right all wrongs.

To be best person you can be. And to share my story to help someone else .


Sarcoma in Li-Fraumeni Syndrome 2018

1969, SOFT TISSUE SARCOMAS, BREAST CANCER- A FAMILY SYNDROME?

In 1969, Dr. Joseph Fraumeni and Dr. Frederick Li were working at the National Institutes of Health when they noticed four families with two children who had sarcomas. Three families had two siblings, one family had two cousins with sarcomas. Beyond that rare occurrence, 3 of the mothers of the children had breast cancer. Further study found 24 kindreds with lots of cancer, which they labelled SBLA(Sarcoma, Breast, Leukemia, Adrenal) Syndrome, now known as Li-Fraumeni Syndrome.

 

 

 

SARCOMAS MAKE UP 25% OF ALL LFS TUMORS.

Sarcomas are considered rare- which is to say they make up less than 1% of all cancers in the general population. Sarcomas make up about 25% of all LFS tumors- but everything, including rarity is relative in a rare cancer syndrome. Unlike most other tumor types- sarcoma is not limited to one region of the body. This is partially what makes sarcomas so difficult to recognize, diagnose, screen, and treat.  They can be hard, soft, painful, pain-free, slow growing or really aggressive. You can find sarcomas in bones, muscles, fat, or connective tissue(blood vessels, nerves, cartilage). They can appear at any age.

THERE ARE OVER 50 TYPES OF SARCOMA, MANY WITH SUBTYPES.

There are over 50 types of sarcoma. Many sarcomas are identified by where they are found or the cell type- Rhabdomyosarcoma(striated muscle), Liposarcoma(fatty tissue- often mistaken for cysts), Leiomyosarcoma(smooth muscle), Osteosarcoma(bone), OR  chondrosarcoma(cartilage). You may have had or known someone with a sarcoma if you recognize the terms: Malignant Fibrohistiocytoma(sometimes referred to as pleomorphic sarcoma), Myxoma,  or Gastrointestinal Stromal Tumor- also sarcomas. This makes sarcomas difficult to diagnose. Consulting with sarcoma specialists and getting second opinions for diagnosis and treatment are encouraged.

96% of LFS SARCOMAS DEVELOP BEFORE AGE 50.

The average age of sarcoma diagnosis in LFS is 16 years old. Certain sarcomas are seen more frequently at certain age ranges, although they can and do appear anywhere at any age. For example, Rhabdomyosarcomas are diagnosed more often at age 5 and under, Osteosarcomas are more often seen at ages 20 and under and liposarcomas and leiomyosarcomas are both more frequently seen after age 20.

RISK OF RADIATION INDUCED SARCOMAS IS MUCH HIGHER IN LFS.

LFS mutants have radiation sensitivity. This means that radiation can cause damage to our genes that mutant p53 cannot fix. To avoid genotoxic damage, we try to avoid radiation where possible. This can be problematic for screening, diagnosis and treatment. Scans such as X-ray and CT use different amounts of radiation, but can see certain tissues better than MRI or ultrasound, which don’t use radiation. Radiation therapy, which is a standard of care for many cancers, is problematic with LFS. Sarcomas in general are tough to treat, so we try to avoid radiation if we can, but we have to treat the cancer we have with whatever arsenal is at our disposal. As we say in our support group- You have to fight the shark closest to the boat. 

WHOLE BODY MRI, SCREENING AND DOUBT.

Recently there is more support scientifically for using Whole Body MRI(WB-MRI) to screen for tumors in LFS. Although this method can be cumbersome and expensive- there are not many alternatives to sufficiently cover the whole body risk of sarcoma without radiation exposure. There is the risk of false positives, stress and more tests. There is also the chance tumors will be caught early enough to get out before they metastasize. Another one of our favorite sayings in the support group is When in doubt, cut it out.  We are a lumpy, bumpy bunch. We grow weird. Not everything is cancer. Sometimes it’s easier to cut out the little lumps than worry about what they might become. We use the 2-week rule as an unofficial time frame to know when something should be looked at. The other recommendation from those with experience is to get second opinions, on pathology, on treatment, on everything sarcoma, from sarcoma specialists. Second opinions can help you make the best decision for you.

 

Where to get more information on Sarcomas:
Sarcoma Alliance

Sarcoma Foundation of America

Rein in Sarcoma

International Sarcoma Kindred Study