Help for Healing

Bitter & Sweet, living daily with grief


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Genetics Update

Yesterday I posted on Facebook that I was sitting at Roswell and was unnerved and anxious. I was overwhelmed with the responses of support and curiosity that I got. Thanks to all of you! Let me back up and explain.

This whole world of genetics is new to me and it carries a whole lingo and mindset that needs to be learned. To understand how I even got involved with it, check out my blog from September 22 of this year called “Genetic Markers.” Initially there was a whirlwind of research to do and then there was a waiting period until this appointment came yesterday.

Whenever I go to Roswell, there is a slight PTSD type of reaction. It’s not that we had an awful experience there, it’s just having cancer is awful. The place triggers it all- just the sight of it, the smells, the atmosphere. It all comes back. Not rushing back, but it comes back nevertheless. I was waiting to register when a lovely woman brought a tea cart over. It is one of those little things they do there that makes a big difference. I find tea comforting.

I actually had to register Frankie as a patient because he is the one who is eligible for genetic testing. When you are a patient at Roswell, they make you a green, plastic card with your name and a patient number. You have to use it every time you go for an appointment or test. That became a major trigger for me. No amount of rationality helped me. By the time I was in the waiting room at the clinic, I was worried I might have a panic attack. That was when I posted on Facebook. Telling someone, even if it just posting in cyberspace, somehow seems to help me. Then all those amazing responses got me through.

Once I got in, it was actually quite great. Mary was warm and engaging. She was clearly prepared. She had all of the information I had sent in and had organized it and done her homework. She knew everyone’s names and has a brilliant, scientific mind. I told her at the end that I could follow her when I concentrated fully, but I don’t totally wrap around the concepts overall. My brain just doesn’t work that way. My strengths are in an entirely different area of the brain.

Anyhow, this is a lot of information but so many people expressed interest in it for their own families, I will tell you everything. Your situation won’t be the same of course, but I think you can get the basic ideas through my information. It is all quite fascinating (even though it makes my brain hurt!).

First step is to gather all information possible on both sides of the family. The paperwork was done around Frankie, but Mary wanted to redo it with Tim as the center. I don’t have very much information on Tim’s side of the family but I did what I could. Death certificates are very helpful because they usually have the cause of death. You can get copies if needed, but they do cost money. Just like in the mental health field, what you look for is patterns. Also, you look for other contributing factors. Was this person in the family a smoker? Did they have other related diseases (in Tim’s family it was diabetes)? One of the most curious ones was is there any Jewish ancestry anywhere?

I remembered while I was there that at one point I did a genogram (family tree) of Tim’s family to try to figure out who everyone was. I found it later and took photos of it to send to Mary. That required me going through the two memory boxes I have stored in my closet. I haven’t pulled them out in a while. I had forgotten some of the things I had put in there.

The majority of people who have cancer, have a “random” form of cancer and don’t need a genetic evaluation. One of the ways they determine that, is to look for a cluster of diseases and other such factors. There are some things Tim does not fit the criteria for, but he does hit three major points; 1- he was under the age of 50 when diagnosed 2- his form of cancer was rare 3- he had a family history of it (his dad’s cancer was also at a rare age). Those three things make it appropriate to ask the question, “Is there a possible genetic contribution”?

Now, of the people who fit the criteria to even ask the genetic question, only 20% of those get an answer to what they are looking for. Sigh.

With current technology/research, there are 50 genes that are known to have a cancer connection. Everyone has these genes. What they are looking for is an alteration of the gene of some sort. Because gallbladder cancer is so rare, there are no known genes that are directly linked at this time. There are however, two possibilities that could be correlated.

The more likely of the two is Lynch Syndrome (HNPCC). It should be “considered”, but gallbladder is less likely to be correlated than other types of cancer. For example, colon cancer has a 50-80% chance; uterine 60%, etc.; so the chances are much less likely but it should still be considered. Having said that, this type is adult onset, meaning there is no testing until age 18, and no screening until age 25 so Frankie is at no immediate risk. However, the older three kids are exactly at the ages where it could be relevant. There are five genes associated with this, and they are found by a blood test. If it is a no with the test for the five genes, that doesn’t necessarily mean the family doesn’t have Lynch Syndrome. It just means we are at the end of the limits of our current technology/research at this time. If Tim does have it, each child would a 50% chance of having it. It would also mean at least one of Tim’s parents had it. That would mean this information would be relevant to all of Tim’s sibling and their children as well. I’m sure I lost a lot of readers by now. It makes your brain tired, doesn’t it?

Even less likely, is the second possibility, the link to the BRCA1 and BRCA2 genes that have been studied. For women this usually plays out with breast and ovarian cancer; for men in breast and prostate cancer; or generally in melanoma or pancreatic cancer. This is hard to detect because Tim’s siblings were all male so no chance of the female occurrence. The same information is true for this as far as if he tests positive, each child has a 50% chance, etc… (Who wants to read all that again?)

One thing to remember in general with genetic testing, is that the risk is NEVER 100%.

One of the vast improvements in recent years, is that historically a separate test would be required for each of the genes in question. This was costly and time prohibitive. Now they do what is called panel testing, and there can be many tested all at the same time. This is cost and time efficient.

While technology/research is constantly advancing, that means what is tested today could be very different from what they would be able to test for in the next five years. For example, just two years ago there were only 40 genes, and now there are 50. Roswell cannot legally contact patients to let them know of new research. So they will encourage myself and any other patients to call in yearly to check on any new advances in a relevant field.

For Tim specifically, we have the option of testing his tumor. The hospital keeps samples seven years, and we are at six and a half. However, the current tumor technology is specifically geared toward treatment planning for those patients who are still alive. To test his tumor would cost about $4,000 and would not yield information that would be useful for our purposes.

The really great news, is that Tim signed up when he was a patient to allow his blood to be used for research at Roswell. I don’t remember that detail, but I am pleasantly surprised because he was not an organ donor. That concept kind of creeped him out. Mary contacted their research lab and found out that Tim’s blood has not been used for any research yet and I have the legal right to get it back!

The lawyer is looking into what legal document is necessary to prove my right to it, but I need something that shows I was married to him at the time of his death. While that sounds simple, so far that has proven to be more difficult than it should be. There are marriage certificates and divorce decrees, but no one has thought of a document to say, “Hey, this couple never got divorced.” Go figure. Anyhow, once that is all taken care of, Tim’s blood will be sent to Prevention Genetics in Wisconsin, which is a DNA bank. They will keep it until we know exactly what we want to test for. The cost is $149, a one-time fee.

Any testing though, will be an out-of-pocket expense. It’s one of those insurance rules that lacks common sense. It would be cheaper to do genetic testing and prevent cancer than pay for treatment for cancer if the person gets it. But, nope. (Just wondering why they cover birth control because it’s cheaper than paying for pregnancy. Same logic, isn’t it?) Mary is looking into how much blood is available and if there is enough for more than one round of testing. Once I know that, I will have to make a decision: test now, or wait several years until Frankie is older. The advantage of waiting is that by the time he is old enough, technology/research will most likely have advanced significantly. However, testing now would help the older kids. The question is, do the older kids plan to follow-up on the information now or not? Many people do NOT want to know the results of such testing. This is a conversation I will have to have with my older kids.

By the way, the current cost of panel testing is $1000 smackers. When the time comes, maybe I will try to set up one of those “gofundme” accounts. I have seen them for much less noble causes, so why not try? If not, I will certainly pay for it myself. Possibly saving one of my children’s lives would be worth much more than that. By the way, I will be asking Mary to read this to see if I slaughtered the information or did it justice. If I screwed anything up too bad, I will write corrections on next week’s blog.

Last night I had a tough time. I thought I was all good but after spending the evening alone, I laid in bed and felt all the tears well up. Looking through those memory boxes (ever so briefly!), thinking about cancer, talking about Tim so much, and worst of all imagining my children having to possibly deal with their own diagnosis someday caught up to me. Haven’t had a tough night like that in a while. But I got through and today is a new day. I hope this is helpful to some of you. I hope some of you found it interesting. And for those of you who were bored to tears, thanks for reading anyway :)!


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Genetic Markers

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 be 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 kids have 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.

Yes, wish me luck and say some prayers too!