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Genetics Appointment

I was trying to wait for results before sharing the details of my genetics appointment, but after reading a summary of my appointment that was sent to me in the mail, I thought I should just put it out there.

My genetics consultation was about 3 weeks ago.  Before going in, there was no doubt in my mind that multiple endocrine neoplasia type 1 (aka MEN-1) was what I had.  I had 2 out of 3 main tumor sites, and all signs pointed towards it.  After going back and forth between two offices trying to check in, they finally called us in.  My mom came with me, mostly because it was her day off but it's always nice to have a second pair of ears.

Based on my medical history and family history, they were pretty confident that genetic screening would be useful, because it doesn't really seem like I have a telling family history to figure out where this came from.  They talked about my new symptoms of low blood sugar, severe reflux, and never ending kidney stones.  They were a little surprised I think, to hear such a long history for someone so young.  I went to the lab, had a few tubes of blood drawn, and off I went.

Yesterday, I got the summary of my visit in the mail.  I wasn't really expecting this, and assumed I had already heard most of what was in it.  I was wrong.  A few things stood out as I flipped through it.  The first thing I noticed, as this is something that always seems to stand out in my mind, was the header.  It said it was from the MGH Cancer Center.

I have been to numerous cancer center sub specialties over the years, which I always think is odd and misleading, because I've never had cancer.  Don't get me wrong, what I have been through is probably equal, if not more in depth than some cancers, but they should probably not have every rare specialty in a cancer center. I'm sure it scares people, as it scared me when I went to my first cancer center to have a second opinion on my brain MRI.  I was sure they were going to tell me I had brain cancer.  (They didn't, of course.)

They said my chances of having this genetic mutation were about 80%, which was higher than I originally thought given my family history of no endocrine problems.  They also mentioned, because I have two tumor sites, this genetic testing will basically do nothing to change my treatment and screening guidelines, it would only help to decide if my family needs further screening or testing.  So basically, a negative result means my life will not, in fact, be less complicated.  I should have the results at some point next week.

It was a productive, and as always, tear filled visit to yet another specialty.  I find myself now more than ever waking up in the morning hoping all of this was just a nightmare.


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