Tuesday, November 30, 2010

Well, I knew I was different...

Today I went for the results of my genetic testing. Good times. Insomnia and angst. Worrying about what I will do if I do have the mutation (and a greater chance of having ovarian/ uterine cancer).

Given my holiday track record (see: diagnosis of cancer two days before Christmas eve), when I had to wait out the thanksgiving holiday to get the test results I couldn't help but assume that I do in fact have that stupid gene mutation. It was starting to feel Deja vu to me... Going for tests alone, because I didn't want to ask someone to give up free time at such a busy point in the year, to accompany me.

Time dragged on and I found myself FINALLY waiting outside the doctor's office this morning. Sweating, and trying to unwind that familiar knot in my stomach.

I went in and waited a while amidst other patients. It was humbling; it always is. I always feel particularly guilty when I see an older person and wonder how badly chemo is kicking THEIR ass. Somehow I feel bad for getting through with a minimum of chaos along the way.

Finally someone brought me in the back to a conference room. I waited and waited some more and thought I might have to go find that folder myself before I I lost my mind.

At last the doctor appeared at the door - and pointed at me, said "I'll be right in," and LEFT AGAIN. She had the papers in her hand. Sweet monkey.

When she FINALLY came back a few minutes later it wasn't with Irish step dancing and "it's all good news" so I got very discouraged. But then she said "well, I don't have bad news, but we have things to discuss."

She explained to me that the lab didn't find the brca-1 mutation that is common in families with clusters of breast cancers. Or the brca-2 mutation. There was, however, an inconclusive finding of some other sort of mutation.

So it was "um, that's good news mostly, right?". And it is. I don't need to have a difficult, frightening conversation with my daughter now about whether she has a mutation known to correlate with breast cancer. She doesn't need to be tested.

But as for a final answer on what the other part means? No dice.

Somewhere out in the universe is someone else (ONE person in all of the people who have had genetic testing processed at the same lab) who has this same inconclusive other mutation, and so for now the two of us need to chill and hope that it doesn't turn up in other people and get linked down the road as a common factor in people who have some type of cancer.

So I guess I'm one in thousands, if not one in a million.


Trish said...

one in millions is my understanding.

ain't it fun to be so special? like when I found out I have a reverse reaction to a med they gave me during chemo, which caused numbers to tank that should have risen. I too am one in something close a billion---statistically, no one should have the reaction I had. yippie!

So, perhaps, before you kick the bucket in many dozens of years from now, they'll figure out what that mutation is. And you and this other gal, can be patient 1 and 2 of the string, and be famous for helping to narrow down what the hell this mutation is and means. Good news is, if they don't know what it means, they probably don't know what it could cause, ergo, you can't be Dx with something else...so breathe easier m'dear.

and congrats on not having the mutations they WERE looking for!

Meoskop said...

Hey, maybe it's me. Wouldn't that be amusing? Ok, no. But that's why I've signed on to two different research studies to try and understand our mutations better.