Mentos and Diet Coke: What really causes ET?

No, Mentos plus Diet Coke does not cause ET (probably),
but the way Mentos and Diet Coke cause a chain reaction
offers an analogy for how ET mutations might occur.
Click to see a cool Mentos/Diet Coke powered car!

Most ET research focuses on treatment and cure instead of what causes the mutations that lead to ET and other MPNs in the first place. In fact, I only found one such study in the International Journal of Research and Public Health. It was done on a relatively small group of mostly PV patients in Pennsylvania in 2015. You can read the whole thing here if you want.

The gist of the study is this: Researchers theorize there may be both a genetic and an environmental component to ET and other MPNs. Let's call it the Mentos and Diet Coke Theory to make things simple:

Researcher offers more info about CALR as a factor in ET

Dr. Kim Dao of the Knight Cancer Institute talks about the CALR (say it "cal R") factor in some ET patients. She gets a little technical at times, but the bottom line is that the discovery of CALR indicates that there are several "pathways" to ET, and researchers are trying to determine how those pathways affect ET progression, symptoms, and treatment differently.

The up side here is that the more pathways that are discovered, the more treatments can be targeted to individual ET patients for more successful treatment. The down side is that ET and other MPNs are complicated diseases, and that means that the one-size-fits-all treatments  now available (oral chemo and JAK2 inhibitors) may not work for everyone and lots more research is needed.

Hang in there and be well!

Related: JAK-2 or CALR?

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Getting on with life, one damn term paper at a time

College English teachers, even the young idealistic ones ones, will tell you that end-of-term grading is THE most grueling part of their jobs.

It's not that there aren't hidden delights in there. This morning I read one of the most entertaining papers ever about the invention of the flush toilet by a student interested in a public health career. It was chock full of facts about how toilets and sewers improved public health, as well as those fascinating tidbits that never fail to tickle the imagination.

Whom do you tell? And how? And when? And why?

Having an incurable rare disease that affects your energy levels and desire/ability to socialize inevitably leads to questions about whether to level with people about the fact that your life has changed.

Most of us with ET don't consider ourselves terminally ill. But if you've told people you are sick and have used the word "cancer" to explain your disease, some of the responses from people in the article,  "How To tell Someone You're Terminally Ill," from the New York Times Magazine will sound familiar. 

Interestingly, that same NYT magazine issue has a question in The Ethicist's column from a woman troubled by a promise she made to her sister, who was dying of breast cancer, that she would not reveal the news to their elderly mother. (Scroll past the question about the adopted sister to see the cancer question.) 

Here's my riff on the issues raised about whom to tell what to and when in these two articles as they pertain to those of use with chronic, incurable cancers like ET:

Essential thrombo ... whatsis?

A fellow "orphan" with another rare disease, CPS (carbamoyl phosphate synthetase), recently mentioned that she carries around a fact sheet about her condition because not every health care provider outside of her specialist has heard of it. If you don't educate them, she noted, they can't treat you properly.

I thought the fact sheet was a great idea, and promptly decided to swipe it and recommend it to you!

If you want something ready-made, you can download the info from any of the helpful links at right. You could personalize the sheet by jotting down your last platelet count and other blood numbers that are "off," circle the symptoms you have and medication you're taking, indicating dosage and frequency.

The only downside I can see to that plan is that some of these pages may be a little out of date because ET researchers are finding new info all the time. For example the CALR genetic mutation was just discovered a couple of years ago, and that isn't mentioned in some of the info. Plus most of the resources are multiple pages, and most health care providers aren't going to read something that extensive.

So, using my obsessive organizational control freak powers, I've developed a one-page template you can crib from and personalize:

Kudos and thanks to fellow OI "orphan"

National Public Radio announced that Gaelynn Lea, Duluth, has won its annual Tiny Desk Contest. The singer/violinist has osteogenesis imperfecta (OI), aka brittle bone disease. Only about 50,000 people in the U.S. have OI, making it an "orphan disease" that's about three times more rare than ET.

But being a fellow "orphan" isn't the nearly the most interesting thing about Gaelynn Lea. You can read the story from the link. But for my money, playing the video will tell you everything you need to know.

Thank you, Gaelynn, for bringing five minutes of beauty into a wintry, cold afternoon.

Be well!

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