Men2a

I like to joke that I’m extra special because I was gifted with multiple botched genes. Life is short; if you can’t poke fun at things, you’d be dwelling in miserable negativity.

MEN2A, also known as Sipple Syndrome, is a rare hereditary cancer syndrome. It obviously runs in my family. It goes back several generations, and it’s one of those things I’m very curious about. I’d love to know where and how this mutation originated, at least in our family. In doing research on Ancestry.com, I have found some death reports of what appears to be Hirsprung’s disease, which babies died from, so I believe that’s the branch this disease comes from. Our particular mutation can cause Hirschsprung’s disease. A couple of my younger cousins were born with that.

It started out for me when I decided to get checked out after my brother was diagnosed with it and had it taken care of. I also talked to some cousins and my mom about it. What I was not made aware of back then is that I had the mutation. There was no way I didn’t have it.

I was genetically tested, and I had the RET mutation that causes the syndrome. I had a tumor on my thyroid, and it was indeed medullary thyroid cancer. The MTC was to be expected, though, since this mutation has a pretty much 100% chance of causing it. Luckily, it’s not that aggressive most of the time, but unfortunately, it’s known to spread quickly and at the microscopic level. To my knowledge, no one in my family who has had it has had any problems with it other than wait and see. After my surgery, my markers were undetectable, so I am okay with that and don’t sweat really getting checked as I should. It doesn’t help that the doctor I was seeing lied about having other patients with it.

The medullary thyroid cancer isn’t technically a cancer of the thyroid cells, but it’s instead the C cells that form a thin layer over the thyroid. The cells produce the hormone calcitonin, which typically increases with tumor load, and mine’s been in the normal range.

My cancer wasn’t caused or even affected by anything I did or could have done. My cells were programmed to do that because of my genetic mutation. a

There are very few experts on this cancer, and traveling to one just wasn’t an option for me, so I had it removed here and hoped for the best. So far, so good. Surgery wasn’t a big deal, and not having a thyroid is not a big deal as long as I have my levothyroxine. I can definitely tell when I am in a hypothyroid state because I lose my appetite and energy.

As long as my dosage is correct, I feel no different from I did before my thyroidectomy. My energy levels are no different than when I had a thyroid either. The weight gain you read so much about online isn’t the case, at least for me personally. I’ve fluctuated within 10 pounds of where I was before surgery ever since, depending on how much I eat and how much I exercise. I guess for some people it could be different, but I would have to call bullshit on the people who claim to have gained a ton of weight.

It can also cause problems with the parathyroid glands, which have 4. I know I have one left because the doctor told me he put it back.

The other primary effect of this syndrome, and the scary one to me, is the pheochromocytoma. These are tumors of the adrenal glands, but they are composed of hormone-producing cells. They produce adrenaline, but release it in an uncontrolled manner, which can cause strokes and stuff like that. My grandmother had a stroke during surgery caused by this, but it wasn’t until years later that my mom’s doctor put everything together and figured out our syndrome. Under normal circumstances, pheochromocytoma is very rare, only a few per million people, but with our mutation, we have a 50% chance of developing one or more. At least we know what to look for.

I’m adding a quick update to this page since it’s related. I’ve become aware of a new website, [Medullary Thyroid Cancer (MTC)](https://medullarythyroidcancer.org/ “Medullary Thyroid Cancer (MTC)”). This site would have been beneficial for me when I was first diagnosed, and even more so when my mom was, as she was the first diagnosed in our family. With rare diseases, you need to do your own homework and not count on doctors to know everything unless you can go to an expert.

Another super helpful site is [Dr. Pheo’s blog (https://drpheo.blogspot.com/ “Dr. Pheo’s blog” ) by a specialist in pheochromocytomas. They remain anonymous but do answer everyone’s questions in the comments. It really is something I will find handy should I ever be diagnosed with a Pheo.

There is a Facebook group for support with this disease. If you have this thyroid cancer and want to join that group but can’t find it, you can email me, and I will try to help you find it.