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 at least 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.
It started out for me when I decided to get checked out after my brother was diagnosed the it and had his taken care of. I also talked to some cousins and my mom about 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 pretty much a 100% chance of causing it. Luckily it’s not that aggressive most of the time but unfortunately It’s known to spread quickly and microscopically. To my knowledge no one in my family who has had it has had any problems with this other than watch and wait.
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 the thyroid. The cells create the hormone calciton which will typically increase 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’m hypo because I loose my appetite and energy.
As long as my dosage is correct I feel no different than I did before my thyroidectomy. My energy levels are no different than when I had a thyroid either. The weight gain that you read so much about online is just not true. 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 a different but I would have to call bullshit on the people that claim to have gained a tone of weight.
It can also cause problems with the parathyroid glands which there are normally 4 of. I know I have one left because the doctor told me he put it back.
The Other main affect of this syndrome and the scary one to me is the pheochromocytoma. These are tumors of the adrenal glands, but they are made of hormone producing cells. They produce the 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 my mom’s doctor put everything together and figured out our syndrome. Under normal circumstances the pheo 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 just adding a quick update to this page since it’s related. I’ve become aware of a new website Medullary Thyroid Cancer (MTC). This site would have been very useful for me when I was first diagnosed and even more so when my mom was, 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 useful site is Dr. Pheo’s blog by a specialist in pheochromocytomas. He or she remains anonymous but does answer everyone’s questions in comments. It really is something I will really find hand should I ever be diagnosed with a Pheo