Skip to main content

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.


Comments

Popular posts from this blog

Plastic Surgery

When I was 17, I thought about getting a breast reduction.  I was still pretty thin at this point and it bothered me to by bigger clothes just to fit my bust.  I had a hard time exercising and always had back pain and grooves in my shoulders where my bra straps sat. I had a few consults with different plastic surgeons and ended up scheduling surgery for the week before my high school graduation.  I ended up "chickening out" because I didn't want the surgery to have any impact on my graduation, and I hadn't had any major surgeries before.  I started gaining weight due to Cushing's shortly after, so it worked out for the best in the end.

Now, my breast size has gone way down since I've lost weight, and even though they are still bigger than average, they don't get in my way as much and are more proportional to my body. These days, my plastic surgery dream is to have a tummy tuck.  I have a lot of excess skin on my body, especially on my belly, and in a drea…

Cushing's Awareness Challenge - Day 9

The only potentially permanent treatment for Cushing's is surgery.  Whether you have a pituitary tumor, adrenal tumor, or ectopic source of ACTH, most often, you will eventually need surgery.

For me, the first step was a pituitary surgery to try to remove the tumor in my pituitary gland. They went through my nose to access the pituitary gland, which means you have no visible scars after.
I was very nervous heading into the surgery, but didn't have much time to dwell on it, as my surgery was scheduled about a week after my IPSS.  I talked to a lot of people before, about their experiences, and heard vastly different stories from each person.
The only thing I remember from before my surgery was being rolled down what looked like a basement hallway (all concrete), while passing maybe 30 operating rooms.  I saw patients in the hallways on stretchers waiting for surgery, I saw into the small windows in the doors to operating rooms, it was a very scary experience.  Obviously, not ev…

Cushing's Awareness Challenge - Day 4

I have often said, I wish I had cancer instead.  Most people would not understand this sentiment, why in the world would you wish for such a horrible disease?  
It is another common thread tying people with chronic illness together. If my disease was cancer, everyone would know what it was.  I wouldn't be questioned by my boss when I called in sick.  My friends and family would be more supportive.  My doctors wouldn't question my symptoms.
Maybe my life would be easier.
But, maybe this would not be true.  I am not looking to find out.  Chronic illness is lonely.  It seems, from the outside, that cancer is not.  Most people know someone with cancer.  Most people know what cancer involves.  Endless appointments, surgeries, maybe even chemotherapy or radiation.  Cancer is life threatening. Did you know that a lot of chronic illnesses involve all of the same things?  
With Cushing's, a lot of people have multiple surgeries.  I have had 3 directly related to Cushing's, and…