Li-Fraumeni Syndrome

Every now and then you all know that I like to share some of the things that I encounter. This week I encountered a disorder that I had never even heard of:

Li-Fraumeni Syndrome

If you are scratching your head at the name don’t worry, so was I! This is something I have never come across. You know me, when I don’t know… I am all over the internet until I do know.

I will say I had no idea such a brutal disorder existed.

Let’s get to the gist of what this syndrome is. The disease was first recognized back in 1969. Drs. Frederick  Li and Joseph Fraumeni were studying familial cancers and this study focused around four families that suffered with multiple cases of young adult and childhood cancers. It turned out that a mutation in a gene, TP53 to be exact, made them predisposed to cancers. Oh, while we are talking about the gene, it’s a tumor suppressing gene (figured I would throw that at you so it makes a little more sense). As if that wasn’t enough, it made the carriers more susceptible to rare cancers. We are talking cancers of the “soft-tissue, bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and acute leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as well as in gonadal organs (ovarian, testicular, and prostate.)”(lfsassociation.org)  This article gives a lot of info

Li-Fraumeni Syndrome is an asshole.

It was the statistics surrounding the genetic mutation that shocked me the most. According to the LFS association, individuals with the mutation have nearly a 50% chance of developing cancer by the age of 40. It gets worse. The risk goes up to nearly 90% by age 60. However, hold on for this one, women have a nearly 100% chance of developing some type of cancer within their lifetime (much higher risk for breast cancer)!

Yeah, I was NOT ready for that particular statistic.

Like I said, Li-Fraumeni Syndrome is an asshole.

What should trigger oncologists to test for this mutation is family history. If a patient has a strong family history of the cancers listed above, especially if family members tend to get cancer at a young age (40 or younger), LFS should be looked at.

So, what made me do some research on LFS? A patient. I came across a young patient coming for a radiological study that had a tumor, while one of their parents was battling cancer as well. Yes, parent and child were both going through chemotherapy at the same time.

Once again, Li-Freumani is an asshole.

I happened to be a part of the care and saw some prior scans of the patient and had never really seen such a large tumor. Someone from the patient’s medical team happened to be down here with us and they were able to tell me the name of this syndrome.

I can’t even imagine what it would be like knowing that I carry such a genetic mutation. Would I ever want to have children? If I decided to have children, would I feel guilty if I passed it on to them? I had this discussion with some of my coworkers and we all had differing views. So bloggaverse, I ask you two things:

1. Have you ever heard of LFS?
2. Would you ever have children if you knew you carried the mutation?

Arch nemesis

Classes have started for me. In fact, I’ve already completed one class. I’m liking the program so far but my fight with my old arch nemesis has reignited:

APA formatting 😒😐

I despise APA. I don’t even understand its point. Margins of this size, very particular page headers, citations that are done *just* so, reference pages with indentions done differently than the actual paper, references sited differently depending on what they are…

Why can’t I just write this damn paper and send it in?!

I get that APA formatting is to help maintain consistancy with how research is published and readability. What I don’t understand is why make it so damn complicated? It almost feels like the creators made it complicated because it made them feel smart.

I hate it.

APA has always been a thorn in my side. I’ve never been very good at it. I find the rules convoluted.

As you can see, I’m already over it…

Set up… To fail

So, the higher ups have decided to implement new changes in our department to make us more “efficient”.

😒🙄

Are the changes going to work?

No.

I say no, not because I am against change. I embrace change and fully believe medicine is an ever changing field.

I say no because the changes are rigid.

Our department is very fluid. We may not have a single patient one minute, and the next minute 6 outpatients are here and there is an vented ICU patient on the way down and a patient waiting to go back to their room. Our patient flow changes throughout the day and unfortunately the decision makers don’t recognize that. They see numbers. They see productivity. Pie charts and bar graphs.

Patient care just doesn’t work like that.

However, we are going to implement the changes. We will go along with what management wants. We will grumble and groan as we see how poorly the changes work. We aren’t afraid to speak up. The speaking has been done. At this point, we are going along so we can watch the changes fail and create more problems. We are doing this so that they can see how inefficient their decisions are.

Sometimes the only way to get through to someone is to stop talking.