Genetic Markers

They could save a life!

Last Saturday I was part of a medical conference that was wildly successful. The focus was to start the conversation with doctors, nurses, medical staff, and social workers about starting the conversation with patients/clients regarding end of life planning.

The resounding message by speaker after speaker is that our current model is sorely lacking and in particular, NY is behind the rest of the country. Right now, the conversation doesn’t occur until you are already in a major crisis or actively dying.

This is much, much too late.

Truthfully, the conversation belongs anywhere that people gather. It should start in the home. But the first step is to get medical professionals to be comfortable with the concept. And it is my very strong opinion that the main reason this isn’t already happening is that they aren’t comfortable with dying themselves. How can they help someone else navigate those waters?

If docs get it though, they will start to get their patients to talk about it at home. Eventually.

Anyhow, I was part of a six-person panel that spoke for about 10 minutes (each) and then fielded questions from the 180-person audience. The conference ended with five skits that showed most of the concepts we were trying to teach.

Sometimes the docs in the skits did great, other times they missed the mark. The intent was to generate conversation with the audience and it seemed to do a great job.

I was in the skits, but more importantly for me, I wrote them.

This was a huge stretch for me professionally. My books and blogs are always about personal things that actually happened. I have never written before by creating scenarios/characters so I was terrified of the outcome. However, it seemed to go over extremely well.

Yay!

On one of the breaks, someone from Roswell (the cancer hospital here in Buffalo) approached me.

Bottom line is that apparently they have recently discovered a genetic marker for gallbladder cancer.

I was extremely busy preparing for the next section of the conference, but I tried to process the implications of what she was saying. I told her that was incredibly important because the hallmark of gallbladder cancer is there are no symptoms until stage IV when it is already too late to hope to treat it effectively.

Of course, she knew this. She said she hesitated to approach me, but knew from my lecture that I had kids.

Could mean life or death for them.

Could mean life or death for them. That is really the bottom line. I have thought of this repeatedly since the weekend. I didn’t have anything to write the information down at the time, but she told me to google it. I attempted to, but the only articles I could find said there are no genetic markers.

I have started looking for the proverbial needle in the haystack in my efforts to find this woman at Roswell. So far no luck but this is worth being my relentless self to find her.

So many, many questions. What if one of Tim’s (my deceased husband) kids has the marker? What would they do?

Remove the gallbladder?

Or just run tests every year?

Does it ever skip a generation?

If the kids don’t have it, should their kids be tested anyway?

And would this be important information for Tim’s brothers too?

Is there a particular age to utilize this information?

I get a physical reaction whenever I start thinking about it. It’s a cross between literal illness from being reminded of the nightmare Tim went through and the utter terror of my kids or grandkids going through it someday, and excitement and anticipation at the possibility of being able to stop it.

Thank God I wrote those books and started to lecture or I wouldn’t even know about this information.

I think when they have a breakthrough, they should be required to seek out all former patients’ families and make them aware. That’s a pipe dream.

Wish me luck on this latest endeavor. I need to find this person and I need lots more information. And then I need to approach my kids. I talked to Colin and Frankie the minute I got home from the conference. Colin (age 32) just looked at me like I was insane. Frankie (age 14) told me he will never get cancer because he is immortal and will live forever.

Later I thought, of course, this would be frightening for them to even think about, no matter how much they try to be cool on their exteriors.

At the end of last week, I was able to locate the woman I needed to speak with who had approached me at the conference. It was a combined effort with a couple of agencies, but I found her.

I went to meet with her this week and came home with that same mixture of intense emotions — excitement and energy, mixed with a sick stomach all at the same time.

Truthfully, it’s a bit overwhelming. I don’t really have a scientific mind so it’s a bit out of my comfort zone just to wade through articles and learn new terms and jargon.

And I have my moments where I just plain get angry and say out loud to no one, “I don’t WANT to talk and think about cancer anymore.” At least not when it’s personal like this.

I wasn’t expecting the first big piece of information. It is best to start with testing Tim’s tissues. They recommend a “tumor panel” vs. just looking for one thing or another.

Unfortunately, the hospital did not suggest we do a DNA bank when Tim was a patient there. Supposedly, anyone under 50 that is terminally diagnosed is supposed to be flagged for this but we obviously were not.

If we had been, Tim’s insurance at the time would have covered the expenses. Now I could be looking at a $4,000 bill. This is a good reason for me to blog because I’m sure most other people aren’t aware of it either.

IF YOU ARE UNDER 50 AND HAVE A TERMINAL DIAGNOSIS, REQUEST YOUR DNA BE STORED AND STUDIED.

That should be standard procedure, but it is not.

Generally, hospitals and labs keep samples for seven years. It’s hard to believe, but it has been over six years already since Tim’s initial tests were done. That gives me less than a year to track it down if it is even still available. I am starting that process this week as it is the first step to all of this.

The second step is family history. I will be researching some programs that can be distributed to Tim’s family with the help of his brother. People will be able to add information they have (you never know who has the scoop on how Aunt Gertrude died type of thing) and then the program spits out the results in an organized fashion.

Tim’s brother has been very kind and willing to help with this. The results could be very important to his family as well.

After all of that, we start talking about “germline” testing with 1st, 2nd, and 3rd-degree relatives. How effective that is will depend on the results of the first two steps.

It will most likely be covered by health insurance because being related to Tim meets the criteria. From there, a positive or negative result will have a domino effect on what happens after that.

Phew.

I’m already exhausted and all I have done is take the information I have and map out a plan of action. Part of me is glad to have my brain stimulated with something new. Part of me is scared to death for my kids. It is bad enough to watch your spouse suffer.

The only thing worse than that is to watch your kids suffer.

This totally makes sense to me though. It is very unfortunate there is little emphasis placed on this. I hadn’t even thought about it until now. I just looked at this doctor and said it so makes sense to try to cure cancer.

But doesn’t it make even more to prevent it before it even happens?

That look passed over her face. The look that said, “Welcome to my world. I think that exactly so why doesn’t the rest of the world? It just makes sense.”

Wish me luck. And energy. I need both 🙂