Featured in the Winter 2021 newsletter
My genes don’t define me. I am AliveAndKickn. Pretty bold statement. AliveAndKickn is more than just a name. It’s a way of life. I joke that Lynch Syndrome is the genetic predisposition to colon cancer, endometrial cancer, other cancers…and soccer. But that’s just me. Besides half a dozen surgeries since 1997, I have and still play and coach the game I love. You may find your own game, or hobby, or solace in something that can help you in your day. Lynch Syndrome, other hereditary cancers, even other disorders are difficult to absorb and overcome. Having your first colon cancer at 29 is not easy. Surviving (thus far) to a point where your oldest son who has inherited your mutation is 25 is also stressful. The fact that my father, grandfather, and brother have all lived long fruitful lives post-cancers is comforting to both me and my family. Knowledge is power. By knowing you have Lynch, you can stay ahead of your cancer.
As co-founder of AliveAndKickn, I’ve had the good fortune of being able to share our message with a number of outlets, including the Forbes Healthcare Summit and the Biden Cancer Initiative, and more. AliveAndKickn has co-signed on a number of grant applications for studies, and has had posters at ASCO, NSGC, CGA and other professional conferences. AliveAndKickn is here for you. We are looking to make a difference for you and others, both current and future with hereditary cancer. Part of that is helping navigate the system, offer insights into options, share a smile, look for research trials, but most importantly, aggregate pertinent data to research potential cures. Genetics is taking huge strides almost every day. Precision medicine, immunotherapy and gene sequencing are the future. We thank you for being a part of our lives. I’m humbled to be part of yours. Be resilient. Be AliveAndKickn!
Featured in the Summer 2020 newsletter
PTEN is one of the body’s tumor suppressor genes, which controls cell growth. When a PTEN mutation is present, cells may grow uncontrollably, causing tumors to develop that may become cancerous. A patient born with a PTEN mutation is at high risk for developing breast, thyroid, kidney, colon, and endometrial cancer. My PTEN journey began after being diagnosed with thyroid cancer in 2009. This diagnosis, along with breast health issues and a family history of breast cancer, raised health concerns prompting me to consult a skilled genetic counselor where I learned I have a rare and underdiagnosed disease known as Cowden Syndrome or PTEN Hamartoma Tumor Syndrome (PHTS).
I was relieved to have a diagnosis yet overwhelmed about what would come next. Since the diagnosis, I have had two melanoma removal surgeries, a preventative hysterectomy, and preventative mastectomies. I also have annual colonoscopies due to polyposis (a PTEN outcome) and preventive kidney screenings. With hereditary cancer syndromes, it’s essential to stay a step ahead; knowledge is power. I found that many physicians in my community had very little understanding of Cowden Syndrome and that getting a diagnosis is difficult. That, coupled with lack of educational information about PHTS, motivated me to start the PHTS Foundation in December 2013. I want people to know that if they have a large head and family history of cancer or autism, that is enough to consult their physician for PTEN testing. Patients are their own best advocates.
As a three-time cancer survivor and President of the PHTS Foundation, I work to raise funds for PHTS research and educate the public about PHTS. In my role, I am a twice-nominated Global Genes Champion of Hope, a top 10 Wego patient leader hero, and an inaugural member of Alabama’s Rare Disease Advisory Council appointed by Governor Ivy. I was invited by Europe’s Orphanet group to provide PHTS expertise for their disability project, and consistently work to advocate for PTEN families and all in the rare disease and hereditary cancer community by speaking about the importance of the patient experience and lobbying for policies that will benefit patients and families affected by genetic cancer syndromes. I am fortunate to have received top-notch care thus far, including current care by Dr. Galen Perdikis and the VUMC Breast Center care team for recent breast implant removal to DIEP breast reconstruction.
Featured in the Winter 2020 newsletter
I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sister’s, but being PALB2+ changed my treatment plan and informed me of my possible higher cancer risks for recurrence and other cancers. Like my sister, I had one small tumor in one breast. I could have just had a lumpectomy with radiation and chemo (depending on ONCA result) followed by oral medication, and then just live with a risk of recurrence. The other treatment option was a skin saving, nipple sparing bilateral mastectomy with FLAP reconstruction followed by 5-10 years of oral medication. This would have reduced my risk of recurrence to below 10%. It was a no brainer for me — I chose the latter. After my breast surgery, I was then told PALB2 was linked to ovarian cancer, so I started seeing a high-risk gynecologist. After months of discussions with my gynecologist and oncologist, I decided to have an oophorectomy. This was prompted by my PALB2 risk and my adverse reaction to Tamoxifen. The only way to get off the Tamoxifen was to put me into menopause by removing my ovaries, which at the same time, would lower my ovarian cancer risks. Again, this was a no brainer. It’s two years after my diagnosis, and I’m in a really good place. My cancer is nearly behind me, as I don’t think about it on a daily basis. I’m feeling great and look even better 😉 My energy levels are back to normal, I’m playing competitive tennis, and I’m spending time with my family traveling and enjoying life. We look to the future with positivity. We know there is a chance that I have passed the mutation onto my three kids but we feel empowered by the knowledge of knowing about it, and we will test them for it when they get older. My family is empowered too. We recently found out that my mother is PALB2+. Great news, she’s 75 years old and has never had breast cancer! So PALB2 doesn’t necessarily mean a cancer sentence! I have personally known many family and friends diagnosed with breast cancer; my best friend being one who was diagnosed 8 years ago with stage 4, triple positive, metastatic inflammatory breast cancer. She has had radiation, chemo, had her spine rebuilt, and been on numerous clinical trials. She is here today, and her tumor has shrunk by 67%. What I learned from her: “Always have a note taker with you at EVERY appointment because there is always too much info to absorb. Don’t ever give up and never let it define you. Fight your battle your way. And when you need it, ask for help.”
Featured in the Summer 2019 newsletter
Life was great at 45. I had nothing more than a few headaches and was a tad overweight. After a friend was diagnosed with breast cancer, I realized I had not had a mammogram in a couple of years, so I scheduled an appointment. One mass was found, but it was benign and nothing to worry about. The mass continued to grow, and again, a biopsy confirmed it was benign. The mass was removed, and I went on with my life. A few months later, I returned for a follow-up appointment. It felt like a blow to my chest as the doctor confirmed I had a rare malignant phyllodes tumor in one breast. Because of the rarity of this type of cancer, I was offered genetic testing. A few months later, I was diagnosed with Li-Fraumeni syndrome (due to a TP53 mutation), a rare condition that greatly increases the risk for many types of cancers.
I have three children ages 11, 22, and 27. My 11-year-old was diagnosed with autism at age 3, which has prepared me to advocate like no other. Although there is so much more to my story, when faced with challenges, I prefer to come through and share the answers I have collected throughout my journey. I’m just starting, but here are a few tips I have used to cope:
- Brainstorm your thoughts in a journal. I have learned there are so many things I can’t control, but so many more that I can.
- Get your life in order and encourage your family and friends to do the same. With or without Li-Fraumeni syndrome, we are all guaranteed a death which can happen at any moment. As crazy as it sounds, while journaling, I realized that death was not my real fear. My real fear was leaving my son, and what his life would look like if I was not here to take care of him. Insurance policies, wills, trusts, and written expectations for my son are no longer something just on a to-do list.
- Get organized. I’m still figuring this out, but the appointments and test results can take over your life quite literally. Getting a calendar and establishing systems that work for you is a must.
- Research solutions and take an active role in your care. Ask questions no matter how silly they may seem. Always ask, “Is that the best we can do, and what are my other options?”
- Take your time when making decisions. Never allow anyone to pressure you into making a decision. Sometimes you have to take a step back and seek wise counsel.
- Create a “worry” section in your journal. As things pop up in my mind, I write them in the “worry” section of my journal and tell those thoughts that we can talk about them later during my worry time. “Worry time” is time I set aside to worry so that my day is not consumed with worry, which helps me stay focused on positive things. Typically, by the time “worry time” comes around, I have either found a solution, or I’m over it!
- This probably should have been number 1 on the list but seek therapy. A few weeks in I realized the thoughts about “what if” were consuming me. Depression is real. Get a good therapist. It may take several sessions with several therapists but talking it out can be a game changer.
Hope this helps because I’m out of space. Sending great vibes and love your way!
Featured in the Winter 2019 newsletter
When I was 50 years old I was in pretty good physical shape and I thought I was finally getting six pack abs. I was wrong – those abs were a large football sized tumor, along with a variety of smaller tumors. I was diagnosed with Stage 4 ovarian cancer. I had a hysterectomy and fibroid removal when I was 40 years old, but we left the ovaries because of my age – if only I knew then what I know now.
My mom died of adenocarcinoma (lung cancer common in non-smokers) at 62 years old. My middle sister had Acute Lymphoblastic Leukemia in her 20’s (twice)! My dad (a few years after donating bone marrow to my sister – he is a hero) was diagnosed with Post-Polio Syndrome and Multiple Sclerosis – and that is just my immediate family’s medical history! Based on this and my personal history, genetic testing was a no brainer for me. It turns out I carry the BRIP1 gene. My youngest sister decided to have a hysterectomy with her ovaries removed at age 47 after learning about my genetic test results – if she had to do it over again, she may have had genetic testing of her own and regular screenings instead (because menopause is not fun).
I am grateful to be able to share this information, especially if it can help protect future generations. It took very little effort to get genetic testing and if I can help a family member (or anyone for that matter) by sharing my genetic makeup, it is the least I can do to contribute to the prevention and early detection of cancer. To me, genetic testing is a way for me to help someone else. If there is a possibility of treating, preventing, or curing cancer, I am all IN – take all the blood, genes, and body parts you want!
I am not sure how or why, but I am one of the lucky few. I know a lot of women are in a constant battle trying to get where I am – 4 years with no evidence of disease (NED). I will do anything I can to help, and I am grateful to the scientists and doctors working so hard to find a cure or better ways to detect cancer early.
Featured in the Summer 2018 newsletter
I was aware from a very young age that breast cancer was part of our family. I knew that my great-grandmother (whom I never met) had breast cancer and my grandmother was diagnosed in her 50’s. While I didn’t grow up being afraid of the disease, I was far more aware of it than were any of my friends. My mom was diagnosed with a uterine sarcoma in her mid-40’s and breast cancer at age 48, and again at age 54. She underwent a few grueling surgeries, but was spared chemotherapy and radiation. She also had her ovaries removed prophylactically, years before it was considered a “viable” option. My grandmother died in her 70’s from complications of ovarian cancer, and my mom lived until she was 81 when she succumbed to Alzheimer’s disease.
When I learned about genetic testing for the BRCA genes in spring of 2000, my mother and I had testing through Vanderbilt’s genetic counseling program and learned we were both BRCA2 positive; my two sisters tested negative. After much research—I met with numerous oncologists, surgeons, and plastic surgeons, and learned everything I could about possible insurance ramifications to any decisions I might make—I decided to have a complete hysterectomy and a prophylactic bilateral mastectomy with reconstruction.
During this time, I turned to FORCE (Facing Our Risk of Cancer Empowered) for much of my research and critical emotional support. My family was extremely supportive; my husband was “all in” despite having no prior experience with cancer. I felt lucky to have three healthy children (ages 3, 6, and 9 at the time) and was ready to undergo these surgeries to lower my cancer risks. The surgeries didn’t scare me because I had watched my mother successfully undergo tough surgeries. Primarily, I was afraid of the unknown.
It’s been 17 years since then, and I have no regrets. I’m eternally grateful for the research dedicated to hereditary cancers, the familial support I received, and the peace of mind my surgeries brought. I participate in ICARE and other related activities in hopes that continued research will positively impact all of us with hereditary cancers, and especially my three children who are now young adults. From my mom, I gleaned two thoughts I hope I’ve passed on to my children: live every day to the fullest; and knowledge is power. Because of my mother’s legacy and willingness to tackle this very tough issue, my kids are armed with information they can use as they grapple with difficult decisions in the years ahead.
Featured in the Winter 2018 newsletter
A cancer diagnosis is a life-changing event for every patient and their extended family. However, how we respond to this diagnosis is as individual as our very existence as evidenced by our looks and personalities. Following my diagnosis of stage 4 prostate cancer in 2014 at age 54 which had spread to my bones, I was initially crushed, especially when I found out that I was in the very small percentage for whom there really was no cure. I then did what I always do, just like I did when my son with Down’s syndrome was born – I tried to gather all the knowledge to make the best decisions to move forward. As with my son, who is now a 22 year old with a loving personality and working, my goal is to pursue the best outcome possible.
With a background of many immediate and extended family members with cancer, the decision to do genetic testing was easy, through which I found out that I was positive for the BRCA2 genetic mutation, which was not very surprising. Since all four of my children are now young adults between 21-33 years old, we had a great discussion about future testing and what this means. To my knowledge, none of them have completed testing yet, but they have all been like their old man…happy to have the knowledge to help them make good decisions on their own future preventive care. I am also personally glad they are armed with good information.
As for my own future, so far I am exceeding expectations. The first treatment was expected to last 18-24 months, but mine lasted 40 months! Now moving into what is called “advanced prostate cancer” I continue to be happy that my quality of life is still good. I also continue to rest in my faith and trust God for whatever future that remains.
Featured in the Summer 2017 newsletter
After a long rainy summer filled with doctor visits, I was finally diagnosed with triple-negative inflammatory breast cancer (TN IBC) at the age of 49. I completed treatment in June 2008 and was grateful to have a new phrase to my vocabulary – NED, ‘no evidence of disease’. Since there was no cancer history in my family tree, genetic testing was not offered to me. Fast forward to 2013, with a stronger knowledge base of BRCA gene testing, my medical team suggested I be tested and I agreed. My test results revealed that I carried a BRCA1 mutation, which meant that my children could have the gene as well. I strongly feel that any tool that can be of help to my family to be educated is important, as well as helping medical advancement. This testing could let my children and grandchildren know if they are at risk for breast and ovarian cancers. My three daughters subsequently had testing and my oldest daughter, Natalie, was also found to have this mutation. As Natalie has so eloquently stated after finding out, “I’m glad I’m armed with this knowledge so I can make informed decisions.” [https://www.theibcnetwork.org/moms-daughters/]
After my diagnosis of IBC, I was shocked at how little information was available regarding this type of breast cancer, and even more shocked at the lack of research and education considering it was first written about in the 1800’s. I formed the IBC Network Foundation, to encourage education and fund research for this orphaned form of breast cancer. I am pleased that we have managed to put almost 1 million dollars to research in five years. Our impact is now global, as we also have a sister charity in the UK funding research.
Vanderbilt is a leading cancer center, but I became familiar with some interest in TN IBC over a chance meeting with some researchers at a conference. I was pleased to see their passion and therefore saw the need for funding. Our foundation has committed to funding TN research at Vanderbilt.
Upon learning about the Inherited Cancer Registry (ICARE) based at Vanderbilt, I was excited to join to contribute to the research mission, as well as being given the opportunity to receive regular research and clinical updates. As much as it might seem frightening to some to join a registry like this, I am grateful for the opportunity to help pay it forward by supporting inherited cancer studies in the hopes we can all live well and have long healthy lives.
Featured in the Winter 2017 newsletter
On my 43rd birthday I was diagnosed with an advanced stage breast cancer. Although my BRCA1 and BRCA2 results were surprisingly negative, I was certain there must be a genetic component to my breast cancer since I was diagnosed at a fairly young age. I remained in contact with my geneticist, Dr. Georgia Wiesner, and in 2016 she suggested I have more genetic testing for inherited breast cancer through a multi-gene test, which wasn’t available in 2011 when I was initially diagnosed. As a result of my additional testing performed through Dr. Wiesner, I found out I was positive for the CHEK2 mutation which not only explains my personal history of breast cancer but affords me the knowledge of additional screenings I may choose to have in the future. There was not a lot of information on the CHEK2 mutation and I found myself very fortunate to find a closed support group on social media for women and men that have also tested positive for a CHEK2 mutation (Facebook CHEK2 Mutation Support Group). I subsequently brought a family member to Moffitt for testing, at which time I came to know about and enroll in the Inherited Cancer Registry (ICARE) and am passionately dedicated to helping find answers with regards to how our genes may play a significant role in our cancer diagnosis and potentially our clinical outcome.
If you are interested in joining this CHEK2 support group on Facebook, simply search for “CHEK2 Mutation Support Group” and request to join. As this is a private group, moderators will screen individuals who request to be added to the group.
Featured in the Summer 2016 newsletter
When I was diagnosed with cancer the first time at age 38, my sister (a breast cancer survivor since the age of 29) was positive we had a BRCA gene mutation. However, after we both had genetic testing done in 2006 the results showed we didn’t. Doctors said they were surprised we did not have a mutation in one of the BRCA genes, but believed we probably had another gene mutation that was not yet identified. In 2011, we were asked to participate in a genetic study called Whole Genome Analysis of High Risk Cancer Families through the Genetics Program at the University of North Carolina at Chapel Hill. We both had our DNA sequenced and were found to have a mutation in the PALB2 gene. The genetic study asked if other family members would be willing to be tested and out of the 19 members tested, 18 were positive for PALB2. Since my second battle with breast cancer this past year, I am more committed to help in whatever way I can help find a cure and find answers as to how our genes play a crucial role with cancer.
Featured in the Winter 2016 newsletter
I was first diagnosed with breast cancer when I was 56 years old. Because of my strong family history of breast cancer, I was referred for genetic counseling and had BRCA testing at that time. Recently, I was diagnosed with breast cancer again. When I went to see my surgeon, she advised me to have more genetic testing for inherited breast cancer through multi-gene tests, which were not yet available when I first had my testing. Through this testing, I was found to have a PALB2 gene mutation, which explains my personal and family history of breast cancer. I recently enrolled in the Inherited Cancer Registry, as I am interested in participating in research in any way that I can to learn more about inherited cancers in people with a PALB2 mutation.