LFS Childhood Cancer Awareness: Choroid Plexus Carcinoma

Choroid Plexus Brain Tumors are highly associated with Li-Fraumeni Syndrome. The choroid plexus is within each ventricle in the brain; a series of vessels and tissue that are responsible for making cerebrospinal fluid that takes impurities and waste away. Tumors that grow here can block the flow of fluid and cause hydrocephalus (swelling in the brain). Choroid plexus tumors are very rare, they make up less than 1% of all brain tumors. Yet,  greater than 85% of choroid plexus tumors occur in children under the age of 5.  For more information on the tumors: Living LFS: GO Grey in May-Choroid Plexus Carcinoma

In preparation for Childhood Cancer Month, we asked our support group members to share their “minis.” Some have had cancer, some have not, there are sibs and some have passed away. I noticed a lot of minis who had or were in treatment for Choroid Plexus Carcinoma(CPC). So I asked their parents what their experiences were and if they had any words of wisdom. They did.

In the early 1990’s, clinicians were beginning to see a link between kids with Choroid Plexus Carcinoma and LFS. Yet, it wasn’t until the 2000s that there was enough data to tell. The problem with Choroid Plexus tumors – they are very rare. Li-Fraumeni Syndrome is also very rare. In order for clinicians and researchers to draw conclusions, they needed data. Unfortunately, with rare cancers, that data can be tough to get.

Chris: “I had a daughter that was diagnosed at 3 months old with choroid plexus carcinoma. Her symptoms were staring and she cried terribly when we picked her up. Her tumor was the size of a baseball. They surgically removed  it at 5 months old  and she did very well with treatment chemotherapy for two years after that. She was diagnosed with LFS during treatment, but that was 20 years ago, no one knew a lot about it then. Radiation for her was very bad, she did not do well with it at all. Soon after, she developed myelodysplasia and was too weak to recover. Summar died in 1998.”

Trust your gut. Rare conditions are not always on a doctor’s radar. So many symptoms of cancer and brain tumors are similar to a nasty virus. Many parents have to advocate to get their children the help they needed, even before LFS was diagnosed. LFS status can affect treatment decisions. 

Lyndsey: “My daughter was diagnosed at 5 months old. She was crying, lethargic, vomiting so I took her to the local ER and was sent home. The next day her fontanelle bulged out, she was not holding down fluids and was somewhat limp, so I called an ambulance. We were sent home again with no tests or answers.  The third day, my family and I broke traffic laws to get to the children’s hospital, 2 hours away, because she was basically dying. After 3 brain surgeries, 5 rounds of high dose chemo and 3 stem cell transplants, she was diagnosed with LFS during treatment. She’s 2.5 years old, is cancer free as of now and doing relatively great.”

Choroid Plexus Carcinoma generally occurs in children under the age of 2 and the survival prognosis is poor, especially in tumors that have acquired many mutations. If the child is diagnosed with a TP53 mutation, yet their parents do not have the mutation, they are considered “de novo”- a new mutation. These mutations can happen in the parent’s germ cells or at some point during pregnancy.

Camila was diagnosed at the age of 18 months with Choroid Plexus Carcinoma in the right side of her brain. The doctors said that she had only 30% chance of survival and if she survived she would be a girl with special needs without the possibility of moving.  Camila lost one part of the brain… she survived to the 14 hour brain surgery, showing everybody that she wanted to live, and started moving her legs. Now she’s 2 years and 9 months and she’s NED (No Evidence of Disease). Camila just started walking and still has problems in her immune system from the chemotherapy, but she’s getting better every day. She has an MRI every 3 months, blood work every month, ultrasound every 3 months and Physical Therapy 4 days per week. Camila has LFS and her parents are negative. She is the only one who has it in the family.

Kids and people with LFS are very sensitive to ionizing radiation, especially to the brain. Risks and benefits should be discussed with a professional team knowledgeable in Li-Fraumeni Syndrome. Recent studies show that radiation therapy for Choroid Plexus Tumors in LFS could negatively affect survival. Treatment options for Choroid Plexus Tumors include surgery and chemotherapy.

Claire Roberts: “My son was diagnosed at five months old after being seen by three doctors over a 24 hour period. They said he was teething!! His symptoms were projectile vomiting, sunsetting eyes, he had lost head control and he was basically sleeping all the time, very grizzly. Left sided weakness set in too whilst being transferred by ambulance to another hospital following diagnosis. He had hydrocephalus and now has a shunt. LFS diagnosis came much later after his brother was diagnosed with a rare sarcoma. We were offered testing though after his treatment ended. He didn’t have radiotherapy due to his age, just surgery followed by chemo intravenous and intrathecally via a reservoir directly into the ventricles. He is doing well now.”

Knowing LFS status can affect screening and treatment decisions. Many don’t know at the time of Choroid Plexus Carcinoma diagnosis that there is a TP53 mutation. Often genetic counseling and testing is recommended during treatment. Testing for hereditary conditions like LFS is a personal and even controversial decision.

“Hi I’m Jenny. Mum to Billy.  Bill was diagnosed with choroid plexus carcinoma (brain cancer) in December 2015 . He had surgery and 6 cycles of chemo. He was then diagnosed with Li-Fraumeni Syndrome. His sister, who is 3, has a 50/50 chance of having LFS, but they do not test in the UK until she can give consent.  Bill’s dad has tested positive. He’s 31 and has not had a cancer yet. Billy is doing brilliantly now. He’s 3 in May and thriving. I just get terrified that everything is going to crumble.”

Sometimes aggressive tumors like CPC come back. This can be daunting, yet there are cases of successful treatment in CPC recurrence in LFS children.

Lisanne: “Elise was diagnosed in 2010, 2012, 2016, and 2018, as well as having an Aneurism Bone cyst in skull twice in 2017. Elise lost lots of her mobility when she was three years old, but is always busy helping others and making sure others are alright and she loves pranks and art.”

Tori: “I was a CPC child. I was 9 when I was diagnosed with choroid plexus carcinoma and my symptoms were headaches, vomiting, favoring one side of my body (I am right handed but used my left hand, things like that) and was dizzy a lot. My only treatment for the CPC was surgery, it didn’t spread and was contained inside the tumor. I was diagnosed with LFS after my second cancer.”

There is HOPE. Choroid Plexus Carcinoma is nasty and aggressive. Like LFS, it is not a death sentence. There is no “one size fits all” for screening, treatment, or diagnosis. Being aware of the symptoms, trusting your gut and knowing LFS status can make a difference in survival. 

For More Information:

NIH Information on Choroid Plexus

Go Grey In May- Choroid Plexus Tumors

Successful treatment of CPC in child with LFS

Successful Treatment of Recurrent CPC in child with LFS

Should Radiation Therapy Be Avoided in Choroid Plexus Carcinoma Patients with Li-Fraumeni Syndrome?


5 Life Lessons From People Likely to Get Cancer

by Andi Last, Living LFS Secretary & Media Relations – I am part of a group of people with a rare genetic condition called Li-Fraumeni Syndrome (LFS). You’ve heard of the infamous BRCA, “the breast cancer gene?” LFS is like BRCA on crack. Men with LFS have a 73% lifetime chance of developing cancer. For women with LFS, the lifetime chance of developing cancer is nearly 100%. LFS “core” cancers are breast, brain, sarcoma and adrenocortical, but LFS can cause any kind of cancer. Some of us get more than one kind, or even more than one kind at a time. It can also happen at any age, although half of LFS cancers happen before the age of 30. No, unfortunately, I’m not making any of this up.

As you can probably imagine, such sobering odds can give those of us with LFS a very different – and sometimes twisted – outlook on life. Part of that twist is that some of us lovingly call ourselves “mutants,” since LFS is caused by a mutation of the TP53 “tumor suppressor” gene.

Recently I asked the members of our private Living LFS online support group, “If you could give one piece of life advice to non-mutants or other “normals” what would it be?” Following are some of the insights from this LFS family of ours – people who currently have cancer, have had cancer, have lost family members to cancer, or have been diagnosed with Li-Fraumeni Syndrome, a.k.a. “BRCA on crack.”

Don’t Wait, and Don’t Take Time For Granted

Lif eLesson 1: Don't Wait, and Don't Take Time For Granted

Ilonka: When possible I try not to delay doing things that I love to do. Read about Ilonka’s experience at the 2018 LFS International Conference.

Nina: Stop waiting to do things, or go places, or to do something for you. None of us are guaranteed anything, and it will never be the perfect time to do what you want/need to do. 🤗

Jonathan: Life is a terminal illness – for everyone. Your life consists of two dates and a dash. Make the most of the dash.

Your life consists of two dates and a dash. Make the most of the dash.

Nadja: To not take time for granted. I’ve just known about my LFS for a few months (and have never had cancer) but I’ve started to feel like “you never know what or when something might happen”. I try to get out and do fun stuff more than before and don’t think as much that “I can do that later”. Better to enjoy life while I can and my body is healthy! 🙂

Sonja: Find your peace and happiness inside yourself, not outside. Stop thinking: if I stayed healthy, if I became a mum, if I bought the house… In the end, it is not a children, a job, a fiancé, not even your health, that determines how much meaning, peace and happiness you have in your life. It is captured deep inside yourself. All you need, you can find inside yourself. Saying this, I know it is a big challenge to come closer to this source…I am failing on a daily basis, but hey, as long as I breathe there is still a chance to get there!

Prioritize Who You Spend Time With

Life Lesson 2: Prioritize Who You Spend Time With

Ilonka: Although it’s not possible to avoid, I try as much as possible to stay away from people with negative energy.

Emily C: To go ahead and cut the toxic people out because shitty people are just that, shitty. And they’re not going to change. So it’s better to go ahead and cut your ties before something major or life altering happens. There’s nothing worse than thinking you can depend on someone only to find out they simply don’t care, and a lot of times we know beforehand that we can’t depend on them but we expect that maybe they’ll change. We shouldn’t be surprised, but we still are. Relationships of all sorts should never be one sided. And we try to make excuses as to why we can’t cut them out. “But she’s my mother,” “but we’ve been best friends for 20 years,” “but they’re going through some really hard times right now”.

Be Genuinely Supportive: Just Listen

Life Lesson 3: Be Genuinely Supportive. Just Listen.

Andi: Many people don’t want to hear about real problems – or aren’t equipped to hear about them. Efforts to be helpful and supportive can do more harm than good. Since diagnosis I understand the phrase, “Everyone you meet is fighting a battle you know nothing about. Be kind. Always.” better than ever. Sometimes, genuine support simply means being forgiving, holding space, and only giving advice if it’s requested. 

Be Kind. Always.

Julie: I don’t know how to answer this. What is normal? A friend of mine died almost 2 weeks ago from colon cancer, she battled it for 2½ years. She wasn’t a mutant, but she’s the one who battled and died. I think she should have been the one to give me advice on life 😢

Mandy: My child is not defined by this. She is an amazing girl who is going to do amazing things and I am the lucky one because God chose me to be her Mommy.

Ru’a: Stop talking about cancer (unless you or someone you know is going through it, but too often its used in conversation casually)!!! Stop recommending me shows/movies about it!

Read What People With Li-Fraumeni Syndome (LFS) Want You To Know About LFS.

Samantha: ‘At leasts’ are not helpful. You can at least stuff in your own life, but people telling you at least is not helpful. For example, at least you know, or, at least you are not sick right now (yeah I may have survived the last one, but chances are more is coming, not if, but when) or at least one (or two) of your kids don’t have LFS (like it makes it ok that one or more do? Seriously?) or whatever, nothing takes away from the dark shadow lurking, ready to pounce. This life is real, it can be hard, and the mental load is much more than you can imagine. Please don’t at least us!!!

Greg (President of Living LFS): As someone without LFS, I’ve learned to “listen”. You don’t have to say the right thing, or anything at all, to support someone. Just be there. Read why Greg is a part of Living LFS.

Have Gratitude, And Love As Much As You Can

Life Lesson 4: Have Gratitude and Love As Much As You Can

Ilonka: The clichés are true, since cancer arrived in my life, I enjoy the little things in life so much more. I don’t take anything for granted, and I love and live more intense, in a good way, most of the times. Oh, and I hardly do material gifts anymore with the people that are most dear to me, I’d rather spend time with them instead.

Andi: The most important thing I have learned from having LFS, and having breast cancer twice, is to have gratitude, every single day. There is so much to be grateful for. Even the small, mundane, basic things. They can be gone so quickly. Appreciate them always. Read Mutant Vs. Monster: Andi Last’s Tale of Li-Fraumeni Syndrome

Andi Last: Gratitude for Every Day

Andi: Grateful for every day.

Monica: Treasure every moment you have with your family and friends. Don’t take life for granted, everyday is a blessing. Make sure you always say “I love you” to the ones that you love because those little words make a difference. Smile even if you feel like you don’t want to on some days. Monetary things are not as important as you think. It’s the small things, the quality time, that counts in life.

Andrea: Enjoy life, regardless what curve balls may be thrown your way. If you think you have hit rock bottom (ie. Financially) just know the sun is still going shine tomorrow and things are going to get better. Here is a good saying to live by, mutant or non mutant:  Yesterday is history, Tomorrow is a mystery, Today is a gift, That’s why they call it the Present.

That's Why They Call It The Present

Jenny F: If there’s anything I have learned, it is to continue to “look up.” I learned that in Toronto first by having to look up to see all the attractions and beauty it has to offer (my first time in a big city, so i had to teach myself to look up). I also realized while I was there that “looking up” refers to many aspects in life and with cancer: keep your head up, look up to God, look up to the clear beautiful blue sky, and last but certainly not all, look up and over and through the clouds, there is always something positive behind them. (Having an emotional day today because of my bone scan, so I had to remind myself of my own advice.)

Jenny in Toronto

Jenny in Toronto: look up!

Fannie: I don’t think people can learn from other people’s experience. This “enjoy every moment thing” happens only once someone tells you you’re gonna die, I think. I don’t think it can be passed on; I can barely apply it myself. I would say just love as much as you can. Love and give and feel and share and touch and breathe and observe and laugh and then love a little more. Beauty in an Unlikely Place: Fannie Remembers Her Mother’s Breast Cancer Journey. Also read from Fannie: some days, we just eat cake in bed to give ourselves a mental break

Linda H: Love till your heart aches.

Be You, Sparkle and Laugh

Life Lesson 5: Be You, Sparkle and Laugh

Rowena: My advice is just remember you can only be you. Don’t compare your life journeys to anyone else’s, as #1, you have no real idea what theirs is, and #2, yours will never be the same. We are all unique for a reason! ☺

Catherine: Be your TRUE self. There is not enough time or energy to apologize for owning your truth (unless you are an utter ass, then find a hardware store and buy some duct tape). Be and DO YOU! Who cares what makes Mr. or Mrs. Whomever happy. As we know all too well, this body is only borrowed for a bit. Use it for good and have fun! 

Brandy: To sparkle even in the darkness! Be your own light and light the fucking world UP!

Sparkle!

Also Brandy (heeding her own advice to sparkle!): Don’t half ass anything. Whatever you do, use your full ass.

Don't half ass anything. Whatever you do, always use your full ass.

Jennifer M: Find the humor in every situation. You may have to look hard, and it may be a bit twisted, but find it. And Laugh Hard!

Jennifer M. making the whole room laugh

Jennifer M. making the whole room laugh.