I’m a “mutant” – what is a Li-Fraumeni syndrome?

My sister already told you about what’s happening with her health and now it’s my turn. It’ll probably be a long post but I want to share it with you so I won’t control how much I type.

Tons of people take their lives for granted. They smoke cigarettes, use drugs, drink alcohol, eat very unhealthy and so on… I don’t want to offend anyone but I think it’s just lack of respect for your own body and I can’t believe why so many people do it. And yes, I was one of them and even though I never tried cigarettes or other drugs, I did drink alcohol and ate trash. And now I’m going to pay for all that. On one hand because on the other one I didn’t have anything to do with what’s happening.

 

My family history doesn’t make anyone think positively. Almost everyone on my mother’s side died and the only people left are my grandmother, my sister and me. Some of them died when they were very young and, from what I know, each person had some kind of a cancer. The youngest diagnosed member of my family was my uncle who had a bone cancer and doctors found out when he was 6 months old. When I read something like this I think that there’s something wrong. None of the doctors didn’t think about checking everything and now we have a situation when my sister is seriously sick and feels worse and worse each day, I’m in a bad situation and there’s 50% of risk that April will have health problems as well.

We had only one genetic test back in Poland that our insurance covered in our situation at that time (or that our doctors knew about) and it was for BRCA1 and BRCA2 genes that are responsible for breast and ovaries cancers. We had this test because our mother died from breast cancer and she was the closest member of our family. Both of us were negative and this made our doctors think that there’s nothing else to do and the only thing we had to keep doing was self-examination at home. And what about other organs? What about our family history where they had bone or brain cancer in young age?

When I knew for a 100% about what my sister has I got scared because of a few reasons. One is that I don’t want to lose her and the other one is that I became afraid and worried about myself. I scheduled an appointment with my gynecologist because this doctor is the one who knows me the longest and I don’t have a family doctor here yet. I told him the whole story and right then they took my blood for another genetic test and I was supposed to wait around 3 weeks for the results. We had them sooner though and before I left to Poland I got a phone call that he wanted to see me “as soon as possible” and so I went there the next day.

The diagnosis made me cry right then even though I knew there was something wrong from the very beginning because otherwise they wouldn’t tell me to go there that soon. “TP53 positive” which means that I’m a carrier of a Li-Fraumeni syndrome.

 

What is the Li-Fraumeni syndrome (LFS)?

This is a very rear, genetically determined predisposition to cancers, especially breast, colon, brain and skin cancers. It’s caused by a mutation in a TP53 gene which is one of the most important suppressor genes which in a healthy case prevents development of a cancer. TP53 gene decides about cells division and protein encoded by this gene decides if in case of a DNA damage (for example caused by radiation) it’ll be fixed or the damaged cell will self-destruct. When there’s a TP53 mutation which is an inactivation of it, body produces damaged protein which aren’t going to be fixed at all and this is what, in most cases, will lead to cancers in a young age. Two American scientists recognized this syndrome in 1969 so not that long ago. In 2010 doctors diagnosed 400 people in the whole world only. Now there’s more because they test kids/grand kids and so on but it’s still rare so a lot of doctors don’t know much about it and some don’t know anything. Right now there’s a lot of research going on. And a few minutes ago I was looking for some information about it on Polish websites and there’s like nothing out there which would explain why doctors in Poland didn’t think to do this test in my and my sister’s case even though cases in our family were enough to do it.

p53HR_IngeVandormael

The picture is made by Inge Vandormael who’s a LFS carrier as well. It’s showing a P53 protein.

 

My sister’s cancer saved my life

And then everything started. Since my sister has a colon cancer we started with a colonoscopy during which my doctor found a polyp that was a size of a golf ball. He removed it then and sent it to test it. He said that he wasn’t sure if he cut everything that was attacked by a cancer (because he couldn’t see cancer sells obviously). And by the way, since there’s always something happening to me in the evening after the colonoscopy I had to go to the ER because I got a terrible infection and I spent the whole night with IVs. The next visit with the same doctor was three weeks after the procedure but a few days later they called me and I heard the same as before from the other doctor – you have to come as soon as possible. I went there the next day and, without being surprised but with tears in my eyes I took an information that the polyp was a cancer that I had for at least a year. And let me tell you, I didn’t have ANY symptoms and if my sister was healthy I wouldn’t do any tests. I would never think to do a colonoscopy!

My IG from the hospital in Fayetteville (the same one where I gave birth and where my ob is located) referred me to a surgeon oncologist in Atlanta who specializes in cancers in digestive system, especially in colon. He performed a flexible sigmoidoscopy which is something like a colonoscopy but to check just a short part of my colon. He did it to check how’s the place where I had the removed polyp and to mark the place so that he’ll know where it is exactly while the surgery (I’ll tell you more about it later). Turned out that I had a new polyp in the same space which is a cancer growing because of the rest of cancer sells or just a growth after the last procedure. The doctor said that it’s most likely cancer and he wants to cut off some of my colon and several lymph nodes to check if they’re not attacked. If they are, he said, I’ll be qualified to a chemotherapy.

 

What’s next

So far I’ve seen my gynecologist, gastroenterologist, oncologist and a genetic counselor and I’ll stay in touch with them for a long, long time. Yesterday I had an appointment with a breast specialist. I have a few tests scheduled – breast and brain MRI, CT scan of my chest and an appointment with a plastic surgeon. I need to find a dermatologist and a general practitioner.

NCCN (National Comprehensive Cancer Network) guidelines for patients with Li-Fraumeni syndrome are (they might vary depending on one’s situation and a family history)*:

– self-examination of breasts every month

– clinical examinations of breasts and breast MRI every 6 months

– annual dermatologists check ups

– annual general practitioner check ups

– brain MRI every 6 months

– colonoscopy every year

– discussing a preventive mastectomy (removing breasts)**

– full body MRI***

My gynecologist told me he’d like to do an ovaries ultrasound every 6 months but he prefers that my oncologist sends me to it because then there’s a bigger chance that my insurance will cover it. Especially because this isn’t one of the guidelines of NCCN. I’ll talk to him about it and I’ll consult it with my genetic counselor.

*I’m talking about guidelines here in the USA. I have no idea how it is in Poland and if there’s anything because I didn’t find it in Google.

**I’ll talk more about this surgery later in “what’s my plan”.

***Right now our insurance company refused covering a full body MRI and that’s why I have three other tests. However, my oncologist said he’d fight for it because it’s not just his idea but one of the NCCN recommendations.

 

Everything is even more complicated than it seems

It seems like yes, there’s a lot of stuff but easy enough to handle. On the other hand, however, carriers of Li-Fraumeni syndrome have to avoid several things like, for example, radiation. That’s why I shouldn’t have CT scans unless necessary. I should avoid x-rays as well and I had millions of them in my life, unfortunately. Radiation increases the risk of a malignant cancer. Stress is a negative factor as well and that’s why a lot of people recommend meditations, yoga or visualizations.

In case of cancers in patients with TP53 mutation radiotherapy can’t take a place because the radiation is way too much and it could cause more damage than benefit. What’s more, I read a study stating that this mutation causes patients to be chemotherapy resistant. And that’s not all! People with this mutation are in higher risk of getting cancer caused by… chemotherapy. That’s why it’s so important to know that you’re a carrier and to appropriately choose treatment and prevention.

If it comes to the surgery I mentioned above… My oncologist told me that lymph nodes around breasts are easy to check by touching myself by myself (and it’s even easier in my case because I’m skinny and I don’t have very big breasts) but there’s only one way to check lymph nodes around my colon and this is removing them and doing biopsy. The worst thing is that lymph nodes are our immune system and they filter all the bad stuff and that’s why when you have a cold for example you’ll feel your lymph nodes more because they get swollen. So removing them will cause my immune system to work a little worse than now. My doctor told me that if I don’t agree to have the surgery we’ll do the same procedure again and remove this new polyp and send it to check what it is exactly.

 

What’s my plan

Right now I don’t have any specific plan because I’m still waiting for a few more things to do and consults with a few more doctors. For now I bought a bigger calendar to have room to write down everything. What I know is that I want to avoid cutting of my colon as long as possible and that’s why I prefer to do the test one more time and remove the polyp and make sure what it is. The chemotherapy isn’t an option at all and I’ll refuse it. I’m wondering, however, about doing the double mastectomy in order to prevent development of a breast cancer and that’s why I’m going to see a plastic surgeon, he’ll explain everything to me.

I’m thinking that the fact that I stopped eating meat a long time ago and then I stopped eating animal products in general made the cancer grow much later and much slower than in my sister’s body.

I think I’ll write three more posts as parts of this topic. One of them will be about recent changes in my lifestyle, the second one will be about my plans for when I get back from Poland. And the third one about money, insurance and things like that.

 

What about my family

We need to test April and this is what makes me stressed the most. If she’s a carrier too then she’ll have a lot of different tests done pretty often because she’ll have a high risk of getting sick as a child. Scientists say that each next generation gets sick around 10 years earlier than parents/grand parents. And look, my grandfather died when he was 50 years old. My mother died when she was 39. My sister and I got sick when we were 23 and 24. You can’t even imagine how afraid I am that April might have the same. The risk is 50% so getting pregnant naturally isn’t an option anymore. There are other things we could do and I’ll write about it later.

And I’m pretty sure that my sister has the same thing even though she was not tested yet.

 

Who’s qualified to do genetic testing

This is one of the reasons why I’m adding this post. Like I said, it’s pretty rare so a lot of doctors don’t really know much and it’ll be good for people with a family history of cancers get interested in this. People need to realize that someone has to be first too. So you should consider getting tested if:

– someone in your family has Li-Fraumeni syndrome

– you get a cancer characteristic to this syndrome when you’re young

– you get breast cancer before 30 years of age (or there’s someone like this in your family)

– you get brain/colon cancer before 50 years of age (or there’s someone like this in your family)

– you have a family history of cancers that appear in patients with this syndrome.

 

Keep your fingers crossed!

It won’t be easy. There will be a lot of stress, waiting, fear… But there are people who thanks to prevention find out they have cancer when it’s early enough and they live long and happy lives. Maybe I’ll be one of them and I won’t die young. A few days ago Nathan told me something that made me cry and I looked at everything from a little different perspective. He said that when he heard the word “chemotherapy” he realized that it’s all for real and it’s more serious than he thought. He got scared he’d lose me. And I got stuck, I didn’t know what to tell him. I’m happy I’m here where doctors act fast, they know what to do and they give patients as much time as they need.

 

Talk to you next time,

Aga

 

PS. I’d like to make one thing a little more clear because I think I didn’t make it too easily to understand. Each one of us keeps producing abnormal cells all the time and they might escalate into some kind of a cancer but in a healthy organism the “wrong” cells are fixed and, for example, a woman’s risk of getting a colon cancer during her whole life without having any mutations whatsoever is 0,08% only (source: mayoclinic.org) – but it’s worth remembering that the risk is growing together with an unhealthy lifestyle, unhealthy ways of eating, age. In my case the difference is that all those abnormal cells will never be fixed.

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  • Thank God! Somenoe with brains speaks!