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My Rare Condition Predisposes Me to Cancer. Here's Why You Should Care Too.

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If having a rare condition was a race I would have to say I would have a pretty good shot at first prize. Cowden syndrome is not only a rare disorder, it is essentially the dictionary definition of a rare disorder – meaning it affects approximately 1 in 200,000 people, or about 1,750 people in all of North America. This means I can say I have a condition that affects less people across the entirety of North America than there were people in my high school.

What is Cowden syndrome? It goes by the medical name of PTEN hamartoma tumor syndrome (PTHT), and is a subset diagnosis of the overarching Bannayan-Riley Ruvalcaba syndrome. The basic science behind it is that the PTEN gene is responsible for controlling when and how cells grow, divide and die. As most of us learned in biology class, we carry a pair of chromosomes carrying our genes and in most humans two copies of the PTEN gene exist. For people like myself however, we only carry one copy of the PTEN gene.

What that means is, to put it in a very broad perspective, imagine being born with only one kidney. You can still live your life and everything will be fine, but if that kidney fails you have a serious problem. That to a lesser extent is how PTHT syndrome works.

I live a normal life outside of the symptoms of having an enormous head (seriously there’s only one brand of hat on Earth that fits me), as well as having essentially a benign tumor on my neck. Still, this leads me to my second point. If the second copy of the PTEN gene mutates or goes haywire (which is very likely), then my potential for being diagnosed with any number of cancers absolutely skyrockets. The honest truth is that by the time I am 50, there is about an 85 to 90 percent chance I will be diagnosed with at least one form of cancer. Most likely it will be thyroid cancer.

Why should you care?

To be honest, you very likely don’t need to care about Cowden syndrome because the odds of it affecting you are actually less likely than being struck by lightning. What you should care about is making sure that even if you aren’t genetically predisposed to getting cancer, you make sure you get checkups to ensure you’re OK. Whether that means:

  1. Regular physicals
  2. Colonoscopies
  3. Prostate exams
  4. Thyroid exams
  5. Breast exams

For so long, all of us have seen the havoc that cancer has wreaked on people’s lives. I myself have been blessed to not be dealt any sort of cancer diagnoses so far in my life. But I know that I have to be constantly vigilant to ensure that if or when it comes, I can be able to catch it as soon as possible. And I implore you to do so as well.

Originally published: October 3, 2019
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