Hereditary Breast and Ovarian Cancer

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Hereditary Breast and Ovarian Cancer
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    I'm new here!

    Hello. I'm Caroline but my username is Loudflower. I'm here because I've recently been diagnosed with hypermobile Ehlers-Danlos - this diagnosis came a few years after being diagnosed with breast cancer due to a gene mutation and going through all the surgeries and treatments that follow. That is the very short version. Life has changed, y'all. Some days I am determined and optimistic and too many days I am just struggling. It's a lot. I have even retired early (I am a pharmacist). I'm hoping to learn from everyone, and hopefully to find a laugh or two as well.

    #MightyTogether #EhlersDanlosSyndrome #JointHypermobilitySyndrome #Hypersomnia #HereditaryBreastAndOvarianCancer #HereditaryPancreatitis

    5 people are talking about this
    Mark H.

    We Need Better Sharing of Family Genetic Tests and Risks Information

    As I walked past the bookcase the other day on my way out to the backyard, I glanced over and saw our wedding picture and the urn holding my wife’s ashes next to it. Instantly an enormous wave of grief crashed down upon me that brought me to my knees. “I should not be a widower and solo parent!” I screamed into my hands. My wife was a world-class master educator of elementary school students and a mentor of teachers. She also was my soul mate, muse, creative partner, adventure companion, co-parent, and best friend. We had been nearly inseparable from the moment we met 42 years ago until she died in my arms from triple-negative metastatic breast cancer. The grief of losing her and all that we had done and accomplished in our lives together is nearly unbearable. We had so many grand adventures together. And with so many hopes and dreams we had for our approaching retirement as well as all of our daughter’s future accomplishments and milestones to celebrate, there was so much to look forward to. Now lost to her to a curse called cancer. My wife’s nearly four-year cancer struggle was a nightmare journey through hell for her, for me as her caregiver, and for our daughter. Almost from the moment she found the lump until her last breath, it was one traumatic heartbreaking crisis after another. How truly awful it was is beyond words. But it was all preventable. My wife didn’t have to get cancer. Unfortunately, she was unaware that she had inherited a BRCA2 mutation from her father, which allowed the cancer to develop. Sadly, her father died of metastatic melanoma, a BRCA2-related cancer, years before gene sequencing would have been widely available. But a few years after her father’s death, a male relative developed a rare cancer and this time genetic testing was done. That’s when a germline BRCA2 mutation was confirmed. Tragically, the crucial gene sequencing data, the deadly seriousness of the risk, and the extremely urgent need to get genetically tested was never expressly shared by the relative acutely aware of the family’s mutation. Had my wife known specific details about the mutation possibility, she would have had genetic testing to look for the mutation. Once confirmed, she then would have opted for prophylactic surgery that would have reduced her risk of getting cancer by at least 95%. I do feel that my wife’s cancer struggles and untimely death was the result one relative not having the ability to sit down and explain the cancer risk and urgent need for genetic testing to family members. However, the blame also partly lies in our culture and in healthcare laws. In our culture, openly talking about serious medical issues among friends and family, especially cancer, is uncomfortable to say the least. Even when that information might be life-saving, the need to be medically proactive is poorly communicated, if at all. In addition, current healthcare privacy laws make it difficult for physicians and other medical service providers to share patients’ medical information with others. This puts the burden of sharing life-saving information on the shoulders of often confused and medically illiterate family members. But in the case of hereditary cancer and a genetic mutation, this should never be the case. A germline mutation is not an individual issue. It ceases to be that when it is apparent that other members of the family might carry the mutation and it is potentially life-threatening. This information needs to be effectively shared somehow. Putting numerous family members at risk of a horrible death just to prevent the disclosure of a genetic defect of one individual is ridiculous. To think my daughter and I lost someone so special to a horrible, but preventable cancer because only one person was trusted to comprehend and communicate the serious implications of a short, somewhat vague sentence on a gene sequencing report is excruciatingly painful. Things need to change.

    Community Voices
    Community Voices

    I'm worried....
    I'm high risk for getting breast cancer. My mom died from it before she was 60. Her mom got several cancers, including breast cancer twice. She died of cancer. Her mom (my GGM) died of breast cancer. My dad's mom got cancer years ago but survived it. I just turned 40. I had my first mammogram done 6 months ago. My breast tissue is so dense, I needed a breast ultrasound as well. "Normal looking" nodules were found. I was told come back in 6 months for a check up. I havent been very worried. Yesterday was my check up. This time I got a breast MRI. I was told the results would be sent to my primary care physician and I'd get the results from her in about a week. I'm still not very worried at this point. But that changed this morning when I got a call from the place I got my MRI from, saying I needed to come in today for them to get a biopsy from a lump in my breast. I was not expecting something like that! I think that if they didnt wait for the results to get to my Dr and want me to come in right away to do a biospy, it must look like cancer from the images. I couldnt go in today. I'm going tomorrow. I'm trying to not freak out and think worst case cenario, but its hard. Its especially hard since I have MDD, PTSD and high anxiety. I told a friend and told my boyfriend. I'm not telling my family right now. No point in them worrying for nothing if it turns out to be benign. I dont see how I will be able to sleep tonight!

    14 people are talking about this
    Sarah Garone

    4 Things to Remember When You Get Scary Genetic Test Results

    The phone call with the geneticist was scheduled for four o’clock. I wasn’t worried, as I had a long-standing gut feeling I didn’t have the scary gremlin gene carried by so many of my family members. But after five years of knowing it was a possibility, I can’t say I wasn’t a little nervous as the hours ticked by. I answered on the first ring. The geneticist was warm and personable, and instructed me to log in to the company’s website to look at my results as we discussed them. The page loaded and a message appeared: “A mutation was discovered in the BRCA2 gene…” Even though I knew my odds were the toss of a coin — my mom having the BRCA2 gene meant I had a 50% chance of having it, too — I was stunned. My other relatives who had been tested already comprised exactly 50% of our extended family. In a moment, with a glance at a computer screen, I became the tipping point. Genetic testing for cancer-causing mutations is rapidly gaining popularity in the U.S. As of 2016, 6 percent of adults had undergone genetic testing of one kind or another. The test I took (or rather “spat” — genetic testing can be done on a saliva sample), was via an online company called Color Genomics, which screens for 30 total mutations. Every day more consumers are discovering their odds for numerous conditions, most of them cancers. In inheriting the BRCA2 gene, I’m the lucky winner of a 74 percent likelihood of developing breast cancer in my lifetime, and a 12 percent chance of ovarian cancer. Like so many other carriers of this and other genetic mutations, I have some important medical decisions in my future. Will I have elective surgery to remove my breasts and ovaries? Will I try a preventative medication regimen? Or will I do nothing at all? Since my conversation with the geneticist, I have yet to take any medical action, but I’ve reflected quite a bit on the process I went through and what these results do (and don’t) actually mean for my future. More importantly, I’ve discovered what they mean for my present. Here are four important takeaways if you, too, have received scary genetic test results: Genetic test results don’t change anything today. If you have a genetic mutation today, you had it yesterday and all the other days of your life. Finding out about your results doesn’t activate disease — so it doesn’t need to activate your paranoia. Staying present today can help tame anxiety associated with this unfortunate health news. You got genetic testing to be empowered about your decisions. Many people elect not to find out about their genetic risks, but if you did, it was probably because you wanted to be proactive. The knowledge you received exists to help you make wise choices moving forward, not to make you wring your hands in despair. Genes imply risk, not certainty. So many other factors besides genetics influence the development of disease. Being intentional with healthy lifestyle choices can mitigate doom-and-gloom odds. Let your genetic test results motivate you to eat better, exercise more, get enough rest, and maintain other healthy practices. Support is available. If you’ve tested positive for an inherited gene, odds are that someone else in your family has it, too. If others have been tested, open the lines of communication. Ask them about their experiences and plans. Or, if you’d rather not talk to family, look into finding a support group in your area. I was amazed to discover that groups for people with the BRCA gene (and other cancer-causing genes) exist all over the country. And don’t forget to talk honestly with your doctor about all of your concerns. Genetic tests are not a death sentence. They’re a tool. Treating them as such can help us abide in the here and now and move forward with purpose. We want to hear your story. Become a Mighty contributor here . Thinkstock photo by ktsimage