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SARA: Welcome back to the Positive Gene podcast where we discuss the power of knowledge and the importance of taking control of your health when facing hereditary cancer risk. I'm your host, Sara Kavanaugh, and today we have an incredible guest who embodies the impact genetic testing can have on your life.
Joining me is Kathy Baker, the founder and executive director of My Faulty Gene, a nonprofit dedicated to helping underrepresented and uninsured individuals access the genetic testing that they need. Kathy's personal journey is both powerful and inspiring. After surviving two breast cancers and early stage ovarian cancer all linked to her BRCA1 mutation, Kathy made it her mission to pay it forward by starting My Faulty Gene. Her organization is working tirelessly to provide the same life-saving knowledge and support to others that she received.
As we get into today's conversation, I want to ask, what would you do if you knew there was a test that could potentially save your life? Would you take it? And if not, what's holding you back?
We're going to explore that and so much more with Kathy today. Her personal story, the mission behind My Faulty Gene, and why genetic testing is so important for those at risk. So let's jump in. Welcome Kathy Baker to the show. I'm so happy to have you here.
KATHY: Well, I'm very happy to be here. I appreciate you inviting me.
SARA: You’re welcome. Okay, well let's just jump right in. You have faced significant challenges with cancer in your own life and in your family. Can you walk us through your personal experience and how it ultimately led you to genetic testing?
KATHY: Well, every story has a beginning place and mine, I always look at a picture from my family at my law school graduation in 1996 and there are 10 of us in the picture and of the 10 in the picture, eight of us are first degree relatives and then two are not my father and my husband. But of the eight members that are first degree relatives, my sister was the only one who had had cancer at that time.
So this is 1996 and we had had family history of cancer. Our grandfather had died of an aggressive prostate cancer diagnosed in his late 50s. His mother had died of pancreatic cancer. But when my sister was diagnosed in 1988 with breast cancer at age 32, we weren't really looking at hereditary cancer at that point. There was no discussion of it. It was just that she was a young woman with breast cancer, an aggressive breast cancer, stage three. But by 1996, she was cancer free and it was the last thing on my mind. Fast forward just two years later and my mom was diagnosed with her first of three primary cancers that she faced during her lifetime.
And just four years after my graduation, I was the next one to be diagnosed with cancer. So things changed pretty rapidly in my family. So in 2000, just four years after I graduated from law school, cancer hit home for me as well. When a breast cancer diagnosis was made after a tumor was found during a breast exam, I had a lumpectomy which identified two different kinds of cancer. Actually, I learned that I had invasive ductal carcinoma and I also had invasive papillary carcinoma, which is not as well known. But both of those tumors were identified and I was classified as stage 2B, which is considered actually up to 2B is considered early breast cancer.
And after the lumpectomy, chemo and radiation, I was cancer free. And it's really easy to say that real quickly and it sounds like no big deal, but it was a big deal and it was hard. It was hard facing cancer. We had a lot of issues. My husband had lost his mother at a young age to cancer. One of my kids, my youngest child was vomiting at school every single day and I had no idea. I mean, it impacted all of us. I also doubled my weight during my cancer treatment in a year's time, doubled my weight. So I had a lot going on financial difficulties as a result of not being able to work because I was having a hard time. But I made it through and during all of my cancer treatment, even though it was the year 2000, 2001, and BRCA testing had only been going on for four years. I believe it started in 1996.
So by 2000, it was available, but it was still not real well known. It was certainly well before the Angelina Jolie effect that came many years later. And so when my oncologist asked me if I would be willing to do genetic testing, I just kind of looked at him like he had horns. You don't need my DNA. And so I said, I'll think about it. And that was always my answer. Every time he would see me in a checkup, he would say, "Have you thought any more about genetic testing?" And I would say, "No, but I'll think about it." And it's kind of funny because I was not a real compliant patient through my treatment. I don't like to go to the doctor. I didn't want to go to the doctor. I didn't want to be there, but my mother had the same oncologist. So I had to take my mother to her business. And so I was always in front of this doctor. So I couldn't get away with not going. I had to go.
So it's funny how things work. But for, when I say a long period of time, I'm telling you it was a long period of time, for nine years, every appointment, my oncologist would ask me if I had thought any more about genetic testing. And I would always say no until that ninth year. And what happened was a myriad genetics rep had somehow found his way to have some face time with my oncologist. I credit him with being the most tenacious because it's really hard for those reps to get in for face time with the doctors. They're so busy.
And he went in, talked to him, and he shared this very impactful study. It was called the Metcalf Study. And it was a study by Dr. Kelly Metcalf as the principal investigator and some other really famous physicians and geneticists and oncologists, researchers that we all know of, including Henry Lynch, Olufunmilayo Olopade, Dr. Steven Narod, some big names. But their study was looking at a number of things related to women who had had a breast cancer diagnosis and were either BRCA1 or BRCA2 positive. And in particular, one of the things they looked at was what was the likelihood that these women with a breast cancer diagnosis that were BRCA1 or BRCA2 positive, what was the likelihood they would go on to get ovarian cancer? And with a BRCA2 mutation, one in seven would go on to get ovarian cancer. And with a BRCA1 mutation, it was one in three, which was huge.
So with that information, when my doctor saw me the next time, he was just, he was on a mission. And my sister who had had breast cancer and was also his patient, and I both agreed to do genetic testing at that time. And we both learned we had a BRCA1 mutation. My sister had had at the time of her diagnosis, many years before in 1988, she had had a radical mastectomy because of her cancer, double mastectomy. So she did not need to have any risk reducing surgery with regard to her breast. She also had had a complete hysterectomy and her ovaries had been removed previously. So she didn't need that surgery. But I still had breast tissue, I'd had a lumpectomy, and I still had my ovaries. I knew that I needed to have risk reducing surgery going forward. As soon as I understood the impact of a BRCA diagnosis, I knew that I needed to go for those surgeries.
But I was not ready because my mom was dying of cancer at the time. So there was no hurry. I wanted to be there for her.
And so six months later, after my mom had passed away, I went forward with my risk reducing surgeries. I found three doctors that were willing to work together. And we did piggybacked surgeries. We started with a double mastectomy, followed by a complete breast reconstruction, followed by a total hysterectomy with bilateral salpingo-oophrectomy. And I guess I have to be honest and also admit that I had a tummy tuck too, because why not? The plastic surgeon was there, right? So had that one added at the end, thinking, you know, I was going to be home free. But during that risk reducing surgery, it was discovered that I did have early ovarian cancer.
So I credit genetic testing totally with saving my life. I promise you, I've already mentioned that I was not a compliant patient.
I am not someone who would have gone and presented at the doctor with the vague symptoms of ovarian cancer, bloating, feeling full when you eat. I mean, who doesn't experience both of those things? So I know I would have been rolled in late stage four, and I would not be here today. So I totally credit genetic testing with saving my life.
SARA: Oh my goodness. Okay, first off, wow, three surgeries back to back. After caring for your mother, dealing with just so many elements within your family and the illnesses and recovery and healing and loss. I mean, that was a lot to handle in really a short period of time. And you're right, I can see how your oncologist persistence and pushing you to get that genetic testing done. What a profound impact that really seems to have had on your life. What an amazing story. Thank you for sharing that. It's clear again that that journey has really had an impact on your life. So now you went through this transformative journey after your diagnosis and subsequent genetic testing. It had an impact on you in creating my faulty gene. So let's talk about that, that journey after your diagnosis and subsequent genetic testing. What happened in that experience inspiring you to create My Faulty Gene?
KATHY: Well, it started way before My Faulty Gene, my advocacy work did. It was not long after my breast cancer diagnosis that I jumped in as a patient advocate. I was going to make a difference. And I don't know what it is about the human makeup that it takes something personal to get us into a space like that. There's so many people that it doesn't, but for me, it was my own cancer diagnosis before I really became involved. And I jumped in headstrong into working with American Cancer Society. And I have worked with them since 2002 or 2001 and in many, many capacities. I've been, you know, I have raised millions of dollars, actually for them. I have chaired four different relays for life. I've been on many councils. I'm a national voice of hope, which we used to be called heroes of hope, but I've spoken all over the country. I've also done advocacy work for legislation. And so I started doing really a lot of things in advocacy early on. And as the years went on, of course, after 2009, after my learning of my mutation, you know, my focus kind of changed.
But I saw that at that time, ACS was not doing a lot in hereditary cancer. I mean, it wasn't getting the attention that I was hoping to see. And there were organizations like FORCE, which I love, I absolutely love FORCE. But early on, at the time that I founded my faulty gene, they were not, they were primarily looking at breast, the genes related to breast and ovarian cancer. They had not started looking at the other genes. They weren't focused on Lynch syndrome and some of the other hereditary cancer predisposition syndromes that there are out there. So, you know, I've always supported them and still do. I work with them on some things. So I love them. By the time 2020 came around, fast forward to 2020. And there is a need in the hereditary cancer space in my mind for a way to assist patients that they were not getting. And for some reason, I thought that that was something I could do. And it's not because I have deep pockets in any way or have had the support. But my passion was to find a way. There had to be a way to help people who needed genetic counseling and who needed genetic testing. And so our goal has been from the very beginning to help underrepresented people, uninsured and underinsured individuals in need of assistance in this.
At the same time as the pandemic was rolling out, there wasn't a lot of call for my work in the oil and gas legal industry that I was doing. So I at that time had time to create My Faulty Gene. And we were founded in early 2020.
SARA: That’s awesome. What has been the most rewarding part of leading this nonprofit? What has that experience been like?
KATHY: I mean, meeting so many people who are affected by hereditary cancer and being able to share their stories and know where they're coming from. But what's been really rewarding is that we actually have through our funding, identified over 100 individuals with mutations that did not know that they had them, which has led to other family members knowing that they shared a mutation that we didn't have to fund their testing. But, you know, it's just been kind of a, it just grows. It just, you know, it's, it grows. So the ability to pay it forward, that's what My Faulty Gene is for me. It's a pay it forward because I'm embarrassed that it took me nine years because I'm an educated person, but I never understood the importance.
And so it's my goal to share that and help people understand the importance and how it can be life saving because I would not be here today if it were not for genetic testing. And eight family members would not know that they shared my mutation.
So it affects not only me, but two of my three children share my mutation. I have grandchildren at risk when they get old enough, they'll test to see if they share the mutation. So, you know, not only from a personal perspective, but being able to help other people gain the same knowledge about their own health has been very impactful for me.
SARA: Yeah, absolutely. And that is really a big part of the mission of the podcast, you know, that I have here. I feel like every expert that I have spoken to in this space is really encouraging genetic testing. And I know that one of the barriers to genetic testing is access. And when I have, in my first season, I did solo episodes and I was digging into what do people do when they need genetic testing? Where did they go? You know, I mean, like you mentioned, FORCE is an example. But what is the process they had to go through?
I went to my breast specialist and I have extremely dense breasts. And I don't have a lot of family history to dive into other than what was just, you know, shared, you know, several years ago. And she said, let's just, let's just rule out any genetic risk. You're already having to do breast MRI's and mammograms because of your breast density. But let's take it one step further. And of course, I was shocked, you know, that I had two genetic mutations. But if it weren't for her mentioning that, you know, I, it is hard to think about and consider what, what would I be doing now? Or what risk would I have been continuing had I not taken this leap? And when I also talked about it previously, it was related to the cost associated - So I'm fortunate to be in a position that I could cover the $250 because my private insurance did not cover the testing because I don't have an immediate family member with cancer. So I paid it out of pocket. And again, I feel blessed that I have the means to be able to pay that out of pocket, but I know a lot of people can't. And so maybe that this is a good segue into really talking about what you would say is the biggest challenge that you see today, when it comes to - we can talk about it from a hereditary cancer risk perspective and as it relates to genetic testing.
KATHY: Well, obviously finances, just like what we were just talking about, because everyone cannot qualify, everyone doesn't qualify. But in my opinion, for the people who do know that they have a mutation - cascade testing, and the lack of cascade testing - is really the biggest problem that we're facing. Because if we, if you have, I mean, we have all these people that know that they're at risk, yet their family members are surprisingly not wanting to test as if if they had the mutation, it not knowing is going to help. It doesn't help. Knowledge is power. I mean, you know, it's really hard. So one of our biggest goals has been to help face some of the challenges with getting people to getting their family members to agree to genetic testing.
One of the ways that we've done that is through social media. And that's just one of many, but that's that is one of the ways that we do have a reach. And we have collaborated with others, JScreen. I don't know if you're familiar with JScreen, we've collaborated with them and Kick BRCA. They are a like-minded organization created by two sisters. And I mean, we've done some of these on our own, but we've also done some in collaboration with them. And one in particular that comes to mind is a promotion where we said, if you have a family member with a known mutation and you've never tested, we'll test you for free. So we weren't even looking at whether or not someone had insurance. We didn't care. We just wanted them to test. And so we had a woman who reached out and without going into too much detail, she had a daughter who had had breast cancer and learned that she had a BRCA2 mutation. The mom wanted to know if it came through her. So we tested her. She did have it and she had an additional mutation as well. She had an APC mutation. So we tested then one of her twin sons wanted to know if he had that mutation or either of those. We tested him. He had BRCA2. He had APC and he had BRCA1. We tested the dad. He had BRCA1, tested the twin brother, and he had all three.
So one of my themes here is don't do single gene testing. Please do. When you're doing family testing, when you're doing cascade testing, you've got more than just one side of the family that you need to be looking at. You've got two parents. So you've got genes that are possible both ways. So do panel testing. And I know that most genetic counselors are on board for that these days, but a while back, it would be a lot of just single gene testing. So that's one of the things, cascade testing, that we try to promote. And we do it in many ways. We do it through another program that we've started and that's videos because people like to hear stories. They will watch a story where they won't read something. So if a family member has a known mutation, what can you give them? Lots of times, I'm sure you've gone through this as well, the provider that the genetic counselor or the oncologist, they'll give you a piece of paper and say, "Share this with your family member.”
Anyway, so we've created these little square QR code cards that we give to doctors. I've given thousands of them out since we launched the project in July. Our program is called Family Gene Share. And we have two URLs for that. It's familygeneshare.org and familygeneshare.com. And we have videos of people with different mutations that are such compelling short stories that if someone watches one of these stories, they're going to be more likely to understand the importance of going forward with their own genetic testing. So that's something we've been working on and we continue to work on.
We just got through filming our first video in Spanish a couple of days ago. So we're excited about that as well. It's another interesting story, someone who had a BRCA1 mutation identified many years ago when she had a breast cancer diagnosis in 2010. And because of her family history, that's all they tested her for. Fast forward to this last fall and her provider asked her if she wanted to be part of a study for BRCA1 patients looking at the likelihood of them getting pancreatic cancer. So she joined the study. They started looking at her family history and said, "You know what? We're going to do a panel test on you because it's been so many years and we would just want to check." Well, guess what? She had Lynch syndrome as well. So she has also had a PMS2 mutation. So we have her story in both English and Spanish and we're going to be excited to add that to our website very shortly. We just want to do whatever we can to help with cascade testing and to promote that. That's one of our big goals.
SARA: I love that. I've watched several of the videos. They are so amazingly well done. The quality, the storytelling, the impact. I guess just using that example that you gave is using one of these videos to share with your family member because they'll hear your own story. Like my brother doesn't want to test and he's heard my story. He's been through this with me, but maybe it helps if he heard from a man or another person who has these particular mutations and with the impact it has been on them.
I love that it's a really effective idea to share those stories with people in a really impactful and succinct way. So kudos to you guys providing those.
KATHY: Well, thank you. Our videographer has three Emmy awards. So he's very good and we're very blessed to have him to help us with this project. I have to say, we were, I guess, about several videos in with our filming and one day he said, "I haven't told you this, but my mom died of cancer when I was 10. She died of breast cancer." And he says, "You know, I guess this is something," of course, it was way before genetic testing. He said, "Is this something that I should consider as well?" And so we were able to get him connected with genetic testing and he was able to go forward himself and learn that he did not share, did not have a mutation. Whether his mother had it or not, we don't know, but he did not have one. So that was empowering for him and that's what we want to do is we want to empower people.
And I know the two of the stories that we share, one's a BRCA1 story and one's a BRCA2 story of our videos, are stories of people who had a first and second degree relative who did not share that with their spouse and with their parent, their first and second degree relatives, and did not share about the mutation. And they died of cancers that could have been prevented had they known. So it's also to impress on individuals with the mutation the importance of sharing that your mutation with your family members and not just your parents or your children or your siblings, but your cousins, your aunts, your uncles.
SARA: Yeah, yeah, absolutely. I love the story that Wenora [Johnson] shares from FORCE where they shared their family name history, but they didn't share their family cancer history. And that is, that's a really big part of her family story. I love that it makes an impact. I mean, likewise, having lost my parents a few years ago, there's conversations I wish that we'd had in lots of areas of life. But now looking back, sure having those conversations, hard conversations about family history really can have an impact.
KATHY: We push that all the time. We actually, one of the things we do, we do a lot of health fairs. And we also do a lot of conferences. And we've started carrying these little charms around with us. They're just a charm that you can put on a bracelet or a necklace, but it's a family tree. It's a tree actually, and tree of life. And so we have a little card with it that says, you know, take this card and remember that you need to know your family health history. And if you want to give it to your family member, or take a couple, give it to your family member and say, let's sit down and talk about it because it's important. Those stories go away, just like you said. And like you said about your grandmother who had had a female cancer, how many times do we hear that? We don't know what it is. And so we need to get those stories while we can. I would love to see more emphasis in our schools. That's the perfect time to teach children as part of a health class, you know, make it a project. Let's do something where we learn our family health history. If someone in high school, if they have a grandparent still alive and they're asking them those questions for school, they're going to be happy to share that information with them. And it's going to have lasting effects. So I'd love to see some things that go on in that regard as well.
SARA: So let's go back a little bit to the process, if you don't mind sharing. As you are talking through these conversations that you have with people at events, or you meet them, you know, through, social media or people connecting and finding you online, what is the process that people go through when they reach out to you and say, through whatever means that they reach out to you and say, “Hey, I'm interested in learning more about how I can get genetic testing”. What does that process look like?
KATHY: Well, we really like to have patients see a genetic counselor. I mean, that would be the best of a best case scenario for sure, because they're the ones that know and are trained best. I'm not trained. I'm just passionate about genetic testing. And I know you are, you are the same, but we want to get them, you've got to get them started. And there are those people who are not going to go down that path, but they're curious. I can remember being at a health fair and this woman saying, you know, my, she just went through again, “you know, as I think about it, you know, my grandfather, my aunt and my sister all died at 42 of melanoma". And she said, “I've never heard anything about genetic testing. Is that something that might be something I should look into?" And of course, I immediately am thinking of the genes that come to mind that this could be, you know, CDKN2A or, or one of the, you know, maybe BRCA2 or, I mean, there's several that, you know, Lynch, there's different things that are coming up. And she, she was like, you know, I don't have insurance. I, I'm not going to worry about it. Well, I was worried about it. And so I'm thinking, you know, we have, we've got to get this woman tested. And so I just immediately said, let's just go ahead and fill out the forms and let's do this and let's get you a kit ordered. And so we ordered a patient initiated test for her, which was then approved. That when you order one of those, it goes through an approval by a physician to, to make the actual order of the test based on the family history that we put in there into the system. And she was approved. We funded it. And she ended up having a BRIP1 mutation, which was unexpected totally. And it really does not speak to melanoma. But again, had we not known that she had all of this history, you know, she wouldn't know that she was at a high risk of ovarian cancer.
So, yeah, then the next concern, and I spoke to it, she didn't have insurance. So what do you do if you're, you know, knowledge is a powerful thing if you're able to act on it. If you can't act on it is, is it a powerful thing or is it a burden? You know, it's a difficult situation. We try to help people. We obviously can't fund their medical services, but we try to help them find assistance. And in this particular case, I don't know what was ever done with that information. And it's heartbreaking for me.
We have had cases where we have provided funding, and we have helped them to find care. And it's led to risk-reducing surgeries that actually even found cancer present kind of like mine. When they went forward with their risk-reducing surgeries we were able to help them find some a provider that would do that for an uninsured patient. So there's so much to do. There's so much to do.
But we have a website, and I'm going to go ahead and give you that. If someone is wanting to reach out, the way we handle this is a couple of ways. We have providers that will send us a patient that needs testing that's not meeting criteria or does not have insurance and would we fund it at the patient pay price. And we will do that for providers. And I just learned of one last week that had a check to mutation identified through testing like that where we did it for a provider. But we also will direct people to our website, which is MyFaultyGene.org.
There's two things they need to fill out when they're trying to get assistance from us.
One is an Application for Assistance,
and the second is a Risk Assessment.
And they're both on the website under resources. And if they fill those out and submit them online to us, then we will get back to them. We're a little bit behind right now on our testing. We spent so much money on our video series. To be honest, that was largely self-funded because that's what My Faulty Gene has been. It's been largely a self-funded project. But we are working to get assistance. We're working to get help in funding these tests. And we will get to everyone that needs testing. So it's as funds are available. And again, we're just a little bit behind right now, but we will catch up and we will eventually get to everyone. And if somebody is in need immediately, we don't put you at the back of the line. We'll go ahead and move you up to the front of the line.
SARA: Okay. Do you want to speak to how people can support My Faulty Gene?
KATHY: Well, we have several things that are coming, I think, in the pipelines after the first of the year that might help with our support. But they can go to our website and donate at www.myfaultygene.org. There's a donate button and they can make a donation in honor or in memory of someone. And each test and genetic counseling session costs us between $250 to $350, just like it does anyone that was trying to do it on their own. But donations of any amount are always very much appreciated. And if someone wants to have a fundraiser for us, we would love that as well.
But while we've got something new coming up after the first of the year, we were actually one of two different pilot projects for this fundraising app. It's called Social Walk. And it's an app you put on your phone. And right now, it is only for Apple devices. It will be adding different providers in the new year, I believe. But right now, it's just Apple devices. And just as you are walking and with your Apple watch or if you have an Apple phone that you're walking with, it counts your steps, right? So the idea behind Social Walk is as it counts your steps, every day you have a total number of steps. Well, you can donate those steps to a nonprofit. And we are looking for sponsors for our steps so that every, you know, for a pharmaceutical company or a genetic testing lab or some other company, Walmart, whoever it is, you know, a sports company, that they would commit to funding 80 tests, say, once we get 10 million steps that are walked and donated. So it's going to be exciting. We are working on that now with several. We're wanting to have that as just an ongoing project that will keep going throughout the year. And anyway, kind of exciting, different way because that also benefits the person. There are lots of people who can't afford to make a donation of money. But this helps them because walking helps reduce our cancer risk, it helps our health. So we're we are really excited about this this Social, Social Walk app.
SARA: Yeah, I love that building in something that is attainable, like getting exercise every day. That's a great initiative. I'm looking forward to hearing about that.
KATHY: I know that for my own for myself, I told you I doubled my weight in after my first cancer diagnosis. Well, walking was one of the ways that I got my weight off. And and I mean, it was, I would walk 10 miles every day and lots of steps. So yeah, five and five miles in the morning and five, five miles in the evening. But anyway, so I love walking. And I thought that this was just an amazing opportunity for us. And so we are going to be actually the the kickoff for the first national campaign. And we are excited to start that at the first of the year.
SARA: That’s great. All right. What is the organization?
KATHY: It’s called Social Walk.
SARA: Social Walk. Okay, you made reference to a number of organizations that you guys are partnering with. And we'll make sure we put those on the transcript and in the show notes as well. So because we talked about success stories or impactful moments that you highlighted. Anything specific you want to share?
KATHY: Well, I do have another I have another success story, because we can look at at the hundreds of tests that we have funded and see that that's resulted in over 100 mutations being identified, gene variants, pathogenic variants being identified. But it's hard to to quantify and I really haven't talked about education other than about Family Gene Share, which is education. But we have on social media, we have, I think, over 6,200 posts that we've made in the last four years, we do a lot of education, we talk about a lot of the various hereditary cancer syndromes. We also just talk about cancer in general, and we also do positive things, because a lot of people, if you just do everything about cancer, you know, they're not going to hang with you, and they might miss something important. But education is very important to us. And it's hard to quantify, though, what kind of an impact your education is having.
And I won't go into a lot of detail, but I will say that we had someone that reached out to us, and credited our educational efforts with leading to an early diagnosis of pancreatic cancer, and whipple surgery, and the person is cancer free right now. So education does work.
SARA: That’s amazing. That's great. I mean, pancreatic cancer is often one of the silent ones that is often found late and to know that they can credit, you know, getting this genetic testing done in time to get the surgery to keep them cancer free in the long term is amazing. That's a great story.
KATHY: Yeah, and another another great story. And I'm not even going to say the gene name, but it's a very high cancer rate with this particular mutation. But us testing one patient who did not qualify under insurance guidelines, led to the entire family of eight learning that they had the same mutation and were at almost 100% risk of having cancer in their lifetime.
SARA: Wow. Well, that's another example of why we are so thankful for your organization and the impact that it's having on the hereditary cancer community.
KATHY: How can I not? You know, and that's my thing - how can I not pay it forward? I would not be here. I've asked my husband lots of times, are you mad because I spend all of our money on on My Faulty Gene and in helping? And he said no, because I'd rather have you and you wouldn't be here if it were not for genetic testing. So he gets it. And I appreciate that so much. Not everyone has that kind of support, but I'm thankful that I do.
SARA: Absolutely. Yes. What a blessing.
KATHY: Yes. There is one more thing that I'd like to mention. And that's something I'm actually on the executive advisory board for this organization. It's called Connect My Variant. And Connect My Variant is a nonprofit and it's free of charge. Individuals with a known mutation can go to connectmyvariant.org and sign up, list their exact variant, and they will help you find other people with that variant. The idea being that 90% of the time, if you have an exact variant that you have a common ancestor somewhere and they want to help you fill in the dots, they use genealogy experts to help with that. They help you. I've been able to meet people from England that have my variant and that's where my family came from. So that makes sense, right? Anyway, it's an amazing organization called Connect My Variant. Highly recommend it that people, anyone with a hereditary mutation, they go on there and sign up and try to figure out so that we can connect those dots and let people that don't know that they might be at risk know that they might be at risk of hereditary cancer.
SARA: Thank you for mentioning that resource. So you talked a little bit about this, but what we see as the future of hereditary cancer awareness and genetic testing. You've spoken a bit to the things that you are doing as My Faulty Gene, some of the future projects that you have in the pipeline, but I think in general terms, what are some hopes that you have in terms of the advancements in medicine or in science that can continue to support those at risk?
KATHY: I’m actually really excited because My Faulty Gene, just in the last month, was invited to join the Interact Coalition, which is a group of both genetic testing labs as well as patient advocacy organizations where we are working to impact where genetic testing is going, NCCN guidelines, trying to make a change, a positive change. And so I'm glad to be part of that. What personally I would like to see happen, and I know we're a long way away from it, but I would love to see when we get to the point where we will have universal testing where anyone, I mean, you can be tested when you're born and find out if you have some hereditary cancer mutation that is an actionable mutation so that you will know and you'll be on the offensive from the beginning. So that's just my personal goal, but I know that there's lots of support for that. So I'm hoping it may not be that it happens when you're an infant, but at some point that everyone would have access to that, that it would just be the norm instead of something that we have to fight for, which we do so often.
SARA: Yeah, yeah, we certainly do. Well, and I know you've been at the forefront of this over the last several years, so I know that it's greatly appreciated. We have to have those that are fighting for us.
KATHY: Yes, we do. And you are as well, and we appreciate you. I mean, getting this information out there is really key. It's very important, and I applaud you for doing that.
SARA: Oh, well, thank you. That is definitely what's in my heart and what brings me to the microphone each time I'm here. And every time I do this, I find more and more information that I didn't even realize I didn't know. It's really been an amazing journey, just connecting with people who feel the same way, they have the same passion that we do for informing people of what's potentially at stake if you have that risk and what you can do about it. So I love it.
Okay, before we wrap up, is there any final advice that you would like to give our listeners who maybe might be hesitant about genetic testing?
KATHY: Knowledge is key. You have to know, if you don't know what your hereditary cancer risk is, if you do not know that you have one, how are you going to fight it? And I would not be here today, again, if it were not for genetic testing. I didn't even mention this, but when my pathology came back from my ovarian cancer, it was noted four times in my pathology that my tumor was less than 0.25 millimeters from spreading. I would have been in the peritoneal cavity. I would have been, I would not be here. There's no doubt. I tested just in the nick of time. And again, that was nine years after my breast cancer diagnosis.
So if you are someone who has had a breast cancer diagnosis, let's just say, and genetic testing was not offered to you, or you were like me and you said no, and it's many years down the road and you think, what difference does it make? I'm one and done. I'm home free. I would not be here today. Remember Kathy, find Kathy, go out and see if you're like me. Knowledge is powerful and get tested. It's a powerful, powerful thing.
SARA: And if you want to provide any additional information, like maybe how listeners can get involved or support My Faulty Gene's mission, do you want to speak to that again or I know we spoke to it a little bit earlier, but anything specific you want to share.
KATHY: Yeah, if you are someone who would like to help us, you know, give us a call. We have an 800 number on the website. (Call: 903-747-2687 or 844-307-8444). And again, our website is www.myfaultygene.org. And our family gene share website is familygeneshare.org and familygeneshare.com. The family gene share website does not give any links to donations or anything else. We just wanted it as a standalone tool for people. We didn't want them to feel obligated to help or do anything. We just wanted to share the stories. But if you do want to help us financially, we would appreciate that support.
SARA: Awesome. Okay. Any final thoughts you want to add?
KATHY: Just thank you so much, Sara. This has been amazing. I hope that the passion came through because my passion is to share the importance of genetic testing because it can be life saving.
SARA: Yeah. Oh, Kathy, you did an amazing job. Your knowledge and experience. I mean, for only four years, all the advocacy work and that almost decade of time, it sounds like that you've dedicated to learning more about genetics, learning more about hereditary cancer risk, finding ways to do outreach into the community. It's amazing how we're given those experiences. And some people say, I was given those gifts. You have a gift of advocacy and you have that your law experience makes you naturally inquisitive and able to distill information into really digestible ways. All of that has led you to this experience, which is making a profound impact on our community. So I know I'm not alone in saying how grateful we are for you and your family and your organization. So thank you for that.
KATHY: You’re welcome.
SARA: Okay. Thank you so much, Kathy, for sharing your incredible journey and amazing work that you guys are doing at My Faulty Gene. Again, it's clear that your dedication to making genetic testing accessible has already impacted so many lives. And as you have stated here, that your personal story is also a powerful reminder to us to just how important and lifesaving this information can be.
So for those listening, if Kathy's story has inspired you to learn more about genetic testing, or if you think this is something you are considering for yourself or for a loved one, I would encourage you to visit MyFaultyGene.org.
Again, we have said multiple times, knowledge is power and taking action can really make a difference. So thank you for joining us today. If you enjoyed this episode, consider subscribing, leave a review, share it with someone who you think that you might benefit from this, and follow us on social media @positivegenepodcast on Instagram to stay up to date.
Until next time, stay empowered, take charge of your health. This is Sara Kavanaugh, and you have been listening to The Positive Gene Podcast.
Referenced Resources:
My Faulty Gene: A nonprofit organization providing resources and support for underrepresented individuals seeking genetic testing and counseling.
Family Gene Share: An initiative offering compelling video stories and tools like QR codes to help families share genetic health information and encourage testing.
Connect My Variant: A nonprofit connecting individuals with shared genetic mutations to trace common ancestry and raise hereditary cancer awareness.
FORCE: Facing Our Risk of Cancer Empowered: A community-driven organization supporting people affected by hereditary cancer with resources, education, and advocacy.
JScreen: A public health initiative offering accessible genetic testing and education for cancer and other hereditary conditions.
Kick BRCA: A nonprofit founded by two sisters to increase awareness and provide resources for BRCA-related cancer risks.
Interact Coalition: A collaborative group of genetic testing labs and advocacy organizations working to shape the future of genetic testing and hereditary cancer care.
PositiveGenePodcast.com: The official website for The Positive Gene Podcast, featuring blog posts, show notes, and additional resources from each episode.
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