AliveAndKickn: Raising Awareness of Lynch Syndrome and Empowering Those It Impacts

Heal, Spring 2016, Volume 4, Issue 2

Heal magazine spoke with the Dubins about their organization, AliveAndKickn, which raises awareness and empowerment for those with Lynch syndrome.

At the age of 29 Dave Dubin heard the words no one wants to hear — you have cancer. Just a few short years later, a second tumor, then a third. It was during that time Dubin learned he had Lynch syndrome, an inherited disorder caused by genetic mutations that increase a person’s risk of developing certain cancers, in particular colorectal cancer.

One in 440 people are Lynch- positive but likely do not know it. Now a three-time cancer survivor, the 48-year-old married father of three and his wife Robin are making it their mission to spread awareness through their foundation AliveAndKickn. People are encouraged to share medical information via the foundation’s HEROIC Registry that can in turn help researchers develop new treatments and conduct further studies. Heal magazine spoke with the Dubins about the registry, their organization and what they hope to achieve as this continue this journey.

Tell us a little bit about your own story and when you were first diagnosed.

Dave: My story goes back to 1997 when I was first diagnosed with colon cancer. The history of colon cancer ran in the family, so, to an extent, it wasn’t a super surprise, although no one expects it at age 29. That’s when I had my first surgery, but it continued through 2007 when I had a second tumor and then in 2009 when I had a third tumor. The first two were colon cancer, and it wasn’t until the second tumor was diagnosed when I had genetic testing. I was diagnosed with Lynch syndrome and because of that, I had additional scans and essentially other “parts” checked, if you will, and that’s when the kidney tumor was discovered.

As a result of that experience, you are working to build awareness of Lynch syndrome through your organization, AliveAndKickn. What are some of the priorities of the organization?

Dave: Statistically, Lynch syndrome affects 1 in 440 Americans, yet 95 percent don’t know about it. So, there is this huge group of people who could be affected by Lynch syndrome that if they knew about it in advance, could really do something about it. We don’t have the celebrity survivor per se, so I felt it was imperative for me to shout it from the rooftops and spread the word. It just takes some knowledge, some awareness and some funding.

What would you tell a potential member of the registry about the advantages of being a part of a registry like this?

We’re actually very excited right now. We just launched our HEROIC Registry. It’s the first of its kind. It’s patient-centered, but essentially the goal is to aggregate data for Lynch syndrome. It can range from uploading data from electronic medical records, to social issues, to sharing best practices. The technology is wonderful: because patients feel comfortable that there is security around the information they’re entering, they’re comfortable sharing it. And so far we’re very excited in that we theorized that people who would enter into registry would be similar to me in that they would be comfortable sharing their data with not only their own physicians, not only their own hospitals, but also the clinical research world. We are looking for the miracle cure, if you will, something that is really going to make a difference tangibly, and so far so good.Robin: We are using a platform developed by the Genetic Alliance. We are one of several disease advocacy organizations that are working on a PEER (Platform for Engaging Everyone Responsibly) platform. Thus, it is highly secure, and every patient who enters the registry goes through a series of privacy directives where they get to choose what data is seen, how much of it is seen, and who gets to see their data

What are some of the issues that arise when a family member has Lynch syndrome, and how do you make the decision of when to talk to your children about it and when to begin screening?

Participants in the registry get to elect whether our organization or researchers recommended by our organization can see a higher level of data than researchers generally who may be coming in to use data within the registry. They choose how much information they want shared and with whom. That gives the patients a level of comfort to know that we are taking their medical data and information very seriously, and we want to make sure that this information is used properly to further research and to connect the patients to research. We’re hopeful that we are going to connect the patients and the researchers in a way that isn’t being done yet. Robin: There are a lot of discussions within the community about that specific topic, because some people are eager to have their family members tested and some aren’t. It’s definitely a struggle. We have been very open with our children about Lynch syndrome and what it is, what it means. Because we have the AliveAndKickn foundation, they hear about it all the time. They also have grown up with their father as a cancer survivor their entire lives, since Dave was first diagnosed with colon cancer when our oldest son, who is now 20, was just 15 months old. It definitely impacts them, and they understand from a very young age.

We know that Lynch syndrome increases the risk of colorectal cancer. What are some of the other ramifications for individuals who have it?

We try to give them age-appropriate information as they get older. Our 20-year-old is a Lynch-positive previvor, and he got his testing done just as he turned 18. It’s definitely tough at 18-years-old to find out that you have an 80 percent lifetime risk of developing cancer. It’s a lot to take in, but he’s handled it really well. To me, the most important thing is really keeping the communication open and educating your children, your adult children and other family members on why it’s so important to have this information and what can be done to keep yourselves healthy whether it’s done via annual screenings or other preventive measures that can be done over time. Both of Dave’s second tumors were caught very, very early at stage 1 because he was being screened so carefully. It’s not a fun thing to be a three-time cancer survivor, but to know that we were so careful that his tumors were caught early, he didn’t have to have any chemotherapy. We were able to have them surgically removed and really positive outcomes. That’s what’s most important, keeping on top of everything.Dave: The original title was hereditary nonpolyposis colorectal cancer (HNPCC) because of colon cancer, but it has been revised to just identify it as Lynch syndrome because of the percentages for endometrial cancer, which can be up to a 60 percent cumulative lifetime risk. So part of our goal is to make sure that people know that it is an “equal opportunity” syndrome. We know of women who will have a hysterectomy prophylactically because of the percentages, but it also has implications for other areas such as the liver, pancreas, kidney and bladder. There is no proven link to breast cancer, but it’s also something we keep an eye on — even men.

What advice would you give to a Lynch syndrome previvor?

Robin: There are five different genes that are considered part of Lynch syndrome. It is an autosomal dominant mutation which means that you can inherit the gene from one parent. It does not have to be present in both parents, and any individual has a 50/50 chance of inheriting that gene from one of their parents. There are five different genes, and within each gene, the risk percentages for different kinds of cancer vary. One of our goals with the registry and gathering more data and doing more research is to really get a clearer understanding of what the associated cancer risks are for the individual genes for the various cancers because they do vary depending on which gene you’ve inherited. But almost across the board, the syndrome presents an extremely high risk colorectal cancer, up to an 80 percent lifetime risk. In most of the genes, you have up to a 60 percent lifetime risk of endometrial cancer and then varying risks for other cancers, GI, reproductive and urologic tracts among the most common.Dave: The best thing you can do is get information and really start the process early and get screened early. This is the goal of the registry — to try and make sure that people know about it beforehand. The goal is to not have people find out about Lynch syndrome because they had a tumor at an early age, but to share information and that means sharing information from your physicians, sharing information with your family.

Robin: The key points are that you need to have an understanding. For people out there who may be afraid of genetic testing and really knowing those results, there is so much you can do with that information to keep yourself healthy. It’s really like managing a chronic disease. It’s a lifelong commitment to understanding your health, your family history and your medical history to make sure you’re utilizing all of that information to keep yourself and your family members healthy.

Dave: We hope people will contact our organization before they have a tumor. We want to be in that mode, and that’s really the goal of the registry. The events that we do between soccer and bubble soccer are for awareness, but the ultimate goal is to get people in before they need to be in. We want them there first.