Fond of the Absence...

I took Ronnie with me. He seemed interested in the whole deal and didn't have class Monday afternoon.

When we walked into Paul Strauss, I showed him where all the smokers used to hang out. Now, the only things hung there are "No Smoking" signs with dire warnings of fines for smoking there. He thought that was hysterical, having to wade through a fog of smoke to enter a cancer center.

The oncologist and psychologist weren't there. Good sign.

He didn't hesitate. He pulled out a paper, dated July 21st and put it down in front of me.

BRCA2  6174delT "Absence"
BRCA1 185delAG "Absence"
BRCA1 5382insC  "Absence"

And here we have, absence, absence, absence, he said, poking each box. I smiled. I was especially afraid of that 185delAG because it's so common. They even have their own FB page...

He then explained what else was on the form. They listed the method used. It was done on July 7th! That was less than a month after I was tested!! Still took two weeks to put this little piece of paper together.

He showed me the address. Correct? Yes! We don't know how the letter went missing.

Then, he confirmed that they will continue with the "full panel", searching for the identified mutations on the BRCA genes. But with those, my chances of being positive aren't really much better than any other breast cancer survivor. These three were the ones that occur more often in Ashkenazi Jewish people.

I'm also less worried because many of those mutations have been found in families with outright tragic stories. For example, one woman who wrote a book on the subject, her mother was one of 11 children, 5 of whom died of breast cancer and the mother had both breast and ovarian...

I'm going to get the final results in February so I can wait.

Meanwhile, Ronnie showed an interest in the little family tree that he wrote up. I told him that there might have been another cancer case. "One of the sisters..." no children marked for her. Yes, she had identical twins, both with Type 1 diabetes... and he noted it down.

Ronnie wanted to ask about balding. He wanted to know what his chances are, since his dad's side is all bald and on my side, it's impossible to know if it's on the X chromosome. We have three generations of women without brothers. He laughed and said he was in a similar position. "I'm 37 and haven't started losing any hair yet and all the men in my family are bald!" I thought he was even younger. Kind of relieved that he was that old!

Apparently, it's not so simple as riding on the X chromosome and isn't necessarily sex-linked, but some kinds are... it's complicated!

I thanked him for being so prompt with responding to my emails. He says he tries to keep it up.

Had to dash out of there and get Ronnie to his next class. Ran out of there feeling really thankful for pretty much everything...

Good way to start the Jewish New Year. Kind of brings the year's events to a close. 

Read the last post first

My genetic counselor did get back to me. He said no, they'll only test for the BRCA mutations. So then I asked the sticky question, any idea on when I'd hear about the three mutations I wanted them to run first?

He's very quick to reply. Turns out, he answered my question from somewhere else. He went back to Paul Strauss, the cancer center and looked up my file.

They contacted me on July 28th, while I was in the U.S. I never got the letter and he knew looking at it. I would have mentioned it if I had. I was obviously oblivious to this fact!

Another email informing me of this. Oh panic! Here I was, thinking I was going to get my results in February and they have them!! Oh no. Can you come on a Monday afternoon? I can come this Monday if possible.

He used a term in French that means "targeted research". I assume he's talking about those three mutations. I hope I was understanding him correctly. The one glitch he mentioned in passing, at the interview in June, is that they have to give the results in person. No phone calling. If they did those three mutations first, I'd have to come back twice; once for the preliminary results and then again, when they finish the full panel.

Not a problem. I live 10 minutes away. I'll come twice.

To be honest, for me, this is the "real" result. If I am positive, it'll be one of these mutations. I really doubt it could be some rough mutation that somehow floated around my family. I really don't have the heavy family history that BRCA families do. There are the occasional stories of some woman doing the test as protocol and it pops up positive, with little or no story.

I had to drop Talia off at school and called Paul Strauss in a hurry. No! Everyone was gone. The secretary wasn't there. I couldn't make an apt.

Then, another message in my inbox. Would 2:30pm work for me? Heck yes!!!! I'm there!!

I'm going to back up this story a bit to add a little detail. This all got started when I watched a video of a presentation that a BRCA positive woman gave at Stanford.

https://www.youtube.com/watch?list=PLWIrCndjhuYs3Ffe2o-03llN8uuzIOTtv&v=ZbDizz8X6BQ

At about the 3 minute mark, she mentions these other mutations found. I googled them and quite frankly, don't really understand. They're not on the BRCA gene and I wasn't clear on how they function.

Then the woman in the video comes on one of the BRCA private pages on FB and I was able to recount this. Her video got the ball rolling! How many months would I have waited before getting up the gumption to find out what the deal was on the preliminary results??

Pity my poor genetic counselor

I wrote him again. Two topics. One, are they going to test for CHEK2, PTEN and PALB2 in addition to BRCA 1 & 2? Like I really understand any of this!!! Just thought I'd ask. It's included in some of the BRCA information.

Basically, they're learning more and more with time, and being able to test for more and more.

Also, I asked if they did run my test for the three Ashkenazi mutations. They had agreed to and if these are negative, I'm going to assume that they won't find anything else (could be wrong, unlikely though).

I excused any errors in French, since I won't have my children correct it (they don't need to know all these gory details) and thanked him... again...

Back to Adassa with my little one

I thought my youngest had scoliosis. In 2011, the pediatrician and pediatric radiologist said she did. Not too much. If it's stable, nothing needs to be done.

Of course I had to get a follow-up and I dragged my feet. Finally, when I went to make an apt., her pediatric radiologist had retired! The ped wanted to send me somewhere else. The secretary was going to give me a name.

"Listen, she's 10." I explained, "does she really need a pediatric radiologist? Her school is right near Adassa. I can park. She's already been to Dr. N. He found my cancer. Can I just go there?"

I think the found cancer words sealed the deal. Of course. She can go there...

When I called, they wanted to give me Dr. N.'s partner, who does children, including mine and I know him too, but he wasn't there in the afternoons. Dr. N. was. This X-ray didn't merit pulling her out of school and there was a slot Friday evening.

I managed to find her old X-rays from the retired doctor and brought them along.

Luckily, the blond tech he's had for all these years was there. She was the one who cheered me up the day of my biopsy. She's really good with children and was able to get Davina to do what she needed to do. She got her into position. Really huge negatives! Like three feet long that she pulled out and took into the other room.

Then she put us in the back waiting room, where I spent so much time on the day of my surgery.

Meanwhile, my two older ones, who were supposed to meet up and come home together near their schools, got into a tiff. Talia ended up hitting her brother, who had forgotten his phone at home, with her school bag. Of course she did it with all his friends watching... They had absolutely refused to come over to Adassa and wait so I let them organize coming home themselves. They both insisted on coming home together on the tram. So I was trying to negotiate a settlement (that was not going to involve coming to Adassa, even though it was in walking distance, for either one) when he called Davina's name.

Gotta go! Shut off phone and stuffed it in my bag.

Said "Bonjour!" shook his hand and peeked at the X-ray. "We're back. You've inherited her from Dr. T." (the retired radiologist). He thought that was funny.

"Well, I'm going to retire too." Huh??

Awkward silence. What was that? Fishing for a compliment? Did a rich aunt die and leave him everything so he's now announcing to me that he's retiring?

What to say? "Um, I think you're a tad younger than Dr. T." He smiled.

Then he announced "She doesn't have scoliosis."

Huh? What?? He showed me the old and new X-rays. Her back was curved, less and the other way! I'm like "what?!?"

She has... and he said some medical mumbo jumbo. Scoliosic something or other. What is that?

He just repeated it.

"That's what you just said!" Sigh. He loves explaining stuff usually. Was he just not in the mood? Well, I thought brightly, I can ask the ped eventually.

So basically, I've been walking around for the last three or four years thinking my daughter has scoliosis and now, all of a sudden, it's off the table. I did mention that we were told that as long as it didn't progress, nothing needed to be done. I hadn't been losing sleep over harness nightmares or anything. Apparently, slight scoliosis's that don't progress and don't need treatment, are pretty common. I wasn't worried but now I get to nix it altogether.

"Ballet is good for this!" he offered up. My daughter purses her lips, whispering "Nooooooo!"and shaking her head slowly. So what does he do? Repeats that. No sorry. Not happening. His sales pitch wasn't working too well.

Someone knocks. Secretary explaining that someone needs an X-ray first thing in the morning. He then explained that he wouldn't be there and told her what to do...

When she left, I just said out of curiosity "You don't work on Saturdays, do you?"

Then I got this whole explanation of how their scheduling works. Wouldn't explain whatever condition my kid has five minutes earlier but something I absolutely don't need to know, I get the whole, detailed description.

I know this guy has Asperger's. I absolutely am sure of this. Any doubt has been erased in my mind.

Please note, this is not a disparaging comment. This would throw him in with Bill Gates and Albert Einstein. Actually, a diagnostic radiologist is the perfect career choice for someone with Asperger's. They like repetitive patterns and get upset if something is amiss, like a cancerous tumor. The way he reacted when he saw mine comes to mind, running down the hall, telling me to get dressed quickly...

It actually explains a lot about him (if true). I figure since I'm nero-atypical (dyslexic) myself, it takes one to recognize another one. I was glancing around at his office. Not one single item out of place. Everything stacked in little piles. The picture of his daughters that he's only changed once in 14 years... Soooo wanted to ask him "Do you feel that you're wired, just a little differently, than everyone else?"

So, figuring I can safely jump subjects without penalty (social interaction is not an Aspie's strong point), I happily told him that my ovarian cysts were gone at my last gyn visit and that I had a date for my colonoscopy with the gastroenterologist he recommended, there at Adassa, in October.

I mentioned a study that came out recently in California, saying that a lumpectomy with radiation was just as effective as a double mastectomy for long-term survival. Then I added that my sister wrote an article on it. "Your sister's story! Yes, I read it..." Very nice but that was ages ago.

I said nicely, "Actually, she's a medical journalist. She writes a lot of stories. This one is more recent..."

As he was putting the X-rays away in the envelope, I noticed one of the names of another radiologist in his group. She had both the name of the retired radiologist... and my surgeon. "Just wondering..." I started, jumping subjects once again "is this coincidence??"

"No. She's married to Dr. G.'s son."

"So his son is married to a radiologist and his daughter is married to a radiation oncologist?"

"Huh?"

I named the son-in-law. "He works at St. Anne."

What's odd, and I didn't mention it then, but I realize that I don't know either of Dr. G's children but I do know both of their fathers-in-law, just by chance. I'll mention it to Dr. G. when I see him in December and we'll have a chuckle over that fact.

This town is too small for my cancer!!!

"Yes, it's a medical family."

"Like mine. Like yours'!" I added brightly.

He stopped and looked at me sadly. "Neither of my daughters went into medicine."

I think that's the third time he's told me that. He originally said that about three ultrasounds ago. I remember him hovered over the machine, glaring at the screen, grunting "Ecole" click! "de" click! "Commerce..." click! Business school. We have issues! Do you want to talk about this??

Well, neither my sister nor I went into medicine, and none of our cousins, I told him again.

He really needs to get over this, I thought, leaving his immaculate office.

I did mention my theory to one person who knows him, who totally disagreed (guess he never compared her thyroid to his hair but I digress!) Then she said "But I thought you liked him!"

I do. The Asperger theory just would explain a lot. It actually adds to his charm, and gives me free reign to skip from one subject to the next, with impunity...

Now... the gastroenterologist! Oct. 17th is our date!!!

Yes, I did it. I made an apt. for my colonoscopy!

Here in France, they don't systematically do it at 50 years like back in the U.S. They screen first. I got the letter in the mail. Threw is out. I have "family history" so that wasn't happening...

Basically, it's not difficult to get an colonoscopy if there is any question. These letters are sent out and basically, blood in the stool is checked. I wasn't going to bother dealing with my own poop. My grandmother had colon cancer so it's a done deal.

Turns out, it was in the same building as the pediatric cardiologist where my kids' hearts were checked. The building is basically full of medical offices and he was on a lower floor.

When I arrived, the secretary asked for the reference. Um, no. I don't have one. I just made an apt. No problem!

Dr. F. was a short, bald guy. He seemed serious but he got more animated as the visit went on. His name is similar to that of a popular band so I resisted humming any of their tunes. No, the name doesn't fit.

I told him that it was Dr. N. who recommended him. Yes, I know that it's a bit weird that a radiologist is recommending a gastroenterologist but I just happened to be talking to him about this and so I asked.

I told him my grandmother's story. I only heard the full version this time back in California. She was hit by a car in 1968, luckily, not too badly. She did end up in the hospital and apparently, the shock hit the blood vessels in the tumors in her colon, which she wasn't aware that she had.

They operated and removed them. The doctor wasn't overly confident. "I tried my best" he told my mom.

"So my grandmother moved to California and died there 30 years later of something else at age 92" I told him. Never had any more problems.

But the "rule" is usually if the relative has had colon cancer before age 60. Although my grandmother was 61, it was obvious she had had it for a long time.

What I didn't tell him is that my mother never told my grandmother that she had actual cancer. She told her that she had "some polyps" removed. "My mother couldn't have handled the news!" The doctors, who already knew her, played along. She went to her grave never knowing!

I didn't go into that much detail with him though. He then told me that as a breast cancer survivor, I was going to be contacted. "There is a slight correlation between breast and colon cancers. A small one, so we recommend doing a colonoscopy. You beat us to it!" But then he explained that I had a double-case for a colonoscopy so there was no question about it being covered by the French system.

I did drag out that BRCA test story. I told him that I'm waiting on the results and wanted the colonoscopy out of the way because my friend in N.Y., who's an gastro too, recommended getting it done before any abdominal surgery. I told him outright that the ovaries are coming out if the test is positive. I didn't mention that I want my uterus out too but that's beside the point.

He agreed. I also know that the prep will be the same for both, so I better get used to it!

"I hear that some are easier and taste better than others".

"Some taste better but others work better. I'm giving you something that works. That colon has to be empty before I do anything!" Um, okay. Fair enough...

Exam time. Ugh. Tried not to giggle. I'm very ticklish. Then he has to poke me. Ugh. "Try to relax". Yeah right...

I did ask about my period and whether that's a factor. Thankfully no. I can't schedule because this darned Tamoxifen is wrecking havoc with my system so it's Russian Roulette. He assured me that no rescheduling would be necessary.

Bunches of papers to sign, my Rx, and some instructions, which are actually quite different than what my friends in the U.S. got. I scheduled it well away from any Jewish holidays and a trip my husband is taking... Why we went with Oct. 17th.

He assured me that it was nothing compared to what I had already been through with the breast cancer. I'm not even going to be in the OR but some dedicated room upstairs at Adassa. It's a Friday so I have the weekend to recover.

The secretary told me she nearly walked in on us. She heard us laughing and said "Sounded you were having a good time. I wanted to join you!"