Share your Genetic Testing Story
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I was diagnosed on 2/11/16. It came as a complete blindside because there is no history of breast cancer in my family... My mother has an older brother and both she and he have never had cancer... My father was one of 12 and his siblings did not have cancer either.. I am an only child.... Upon my diagnosis my BS suggested a get tested for the BRCA genes since I am of Ashenazki Jewish decent. I have 3 daughters ( ages 18, 25, 29) so I wanted to get tested for them..
Luckily I tested negative so they don't have to worry... The insurance paid for the test. It was such a relief to get those negative results... I did not want my daughters to be burdened with worry....
Even if insurance won't pay find a way to cover the cost yourself... The information is important if not for you , for your children, siblings, extended family etc.
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I had genetic testing done for a couple of different reasons. First, I am Ashkenazi Jewish. I don't have any breast cancers in my Jewish side so I wasn't surprised to find out that I'm BRCA 1/2 negative.
My mother died of Pancreatic Cancer,. My maternal grandfather did, too. My maternal grandmother died from Leukemia. On my Jewish paternal side my grandfather died from colo-rectal cancer. My paternal grandma died from colon cancer.
Fun so far, right?
My brother has a true allergy to gluten. Not just gluten free, but serious side effects from even the slightest bit of gluten on his skin. He does not have celiac disease. He's really interested in knowing what turns up for me because it may be something he should look into.
So when I was diagnosed with Diabetes, Chronic Lymphocytic Leukemia , and Breast Cancer all within 8 months or so I grabbed the opportunity to have genetic testing. The BRACA test results were easy because they could test my red blood cells but I'm still waiting for all of the other possible gene mutation results. They couldn't test the white blood cells because of possible mutations due to the leukemia. So they took a skin sample and I have to wait about a month. I belong to Kaiser and the cost is minimal, which really helps.
I did this to get information about myself but mostly I did it for my kids. If they every want or need to know about my genetic heritage they can.
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iamaggs
Your story is somewhat like mine. Also Ashkenazi Jewish with every single woman on material side death by either bc or ovarian cancer. Grandmother died of pancreatic cancer and the list goes on.
Recently diagnosed with ADH and I got my Diabetes and Hashi's DX at age 60. That's type 1 Diabetes.
I had genetic testing and no mutations showed up . 19 tested.
I understand your story and send my best thoughts and wishes
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Traveltext, sorry to hear about your diagnosis and my prayers out to you. My cousin was 49 when he was diagnosed and as mentioned, thankfully, with him sharing with the family, we all have a strong weapon in the fight. And will be absolutely making sure to stick to the screenings. I have too much to offer the world to go out too soon. And my prayers also go out to everyone here, diagnosed, positive test, or just here for someone else.
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I had papillary thyroid cancer 25 years ago, and breast cancer 2 years ago. My breast cancer was small and hormone based so I just had a lumpectomy. I had no significant history of breast cancer in my family, so no genetic testing was done. I thought I was one of the unlucky 12%. I had a low oncotype so no chemo.
Later that year I had my first colonoscopy and they removed a very large sessile serrated adenoma (SSA) (premalignant polyp thought to lead to colon cancer). I was told to come back in a year. Earlier this year I had my annual follow-up and there was a new, large SSA! My body is definitely trying to get colon cancer.
I was told to get genetic testing due to my personal cancer history. I have CHEK2 c.1100delC. This explains the thyroid cancer, breast cancer and my colon issues.
With CHEK2 you have a 50% chance of getting breast cancer in the first breast and 30% chance in the 2nd. I will need to get have an annual breast MRI in addition to mammogram. I will probably decide to have a prophylactic mastectomy as it is medically indicated. Honestly the colon cancer has me more concerned.
I have shared my medical results with my family. My sister has a 50% chance of having the mutation and she is waiting for her results. Our parents are both dead. I have shared my test results with my cousins. My children are adopted so they won't be tested.
My insurance did pay for the entire cost of genetic screening. Honestly, I was relieved when they discovered the genetic mutation. I have spent the last 25 years trying to figure out why I would get these cancers. I was researching potential environmental causes, etc. It was a relief to discover the cause. I also now know what to watch for.
There are an awful lot of us with both breast and thyroid cancer. I would recommend genetic screening for anyone with these two cancers.
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Very good advice from a " pro". I am very sorry to read about all tat you have been through
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What led you to doing the testing? I knew I had a strong family history of breast and "female cancer" as they called it in the 50's and 60's for anything involving the lady bits. My paternal grandmother was diagnosed at 33 and passed at 35. 3 of her sisters also had breast/ovarian cancer, and all passed between the ages of 40 to 50. On my dad's side I have no other 1st or 2nd degree female relatives. That is, no aunts, sisters or cousins. We're a small family of all men, except for me. So I didn't have much current history, but my grandmother was close enough. I decided to get tested to "rule it out" since I'm approaching my grandmother's age at dx (32) and I'm about to try for having kids.
What were your results, and what choices have you made based on the findings? So.....about that "rule it out" thing....Psych! I am BRCA1+ with a c.5266dupC mutation. I'm also RAD51C+, another mutation that increases ovarian cancer risk. The BRCA mutation is a Ashkenazi Jewish mutation...except I'm not Jewish, or am I? My family is from what is now Western Ukraine, but used to be Poland and previously Austria. In my readings I've found this particular mutation is common in the Jewish population, but also Polish women from that same area.
I have not made decisions about what I will do just yet; however, I do feel like bilateral mastectomy and oophorectomy are in my future. It's a question of when, not if. I'm still meeting with doctors and I've had my first mammogram (made me feel kinda old...) as well as a transvaginal ultrasound and CA 125 blood test. Everything has come back clean, so I'm in the driver's seat now. My biggest question is whether I want to mastectomy before or after trying for kids. Ugh. No easy answer and I go back and forth every day.
Was payment an issue? Payment has not been an issue so far. I've had a few small co-pays, but the tests and screens have all been considered 'preventative.' Since my initial meeting with a genetic counselor through testing and my mammo/ultrasound, I've only paid about $100 out of pocket.
How have you discussed these decisions with your family? I've tried to discuss with my family and friends, but most people don't know what to say. People say things like "Now you can make an empowered choice" and "are you going to do something crazy like have a mastectomy?!." First of all, I have never felt "empowered." Nope, I've been pissed, sad, confused, scared and lonely, but never empowered. I feel more like I'm making a choice with my back against a wall and the enemy approaching. And yes, I AM considering something CRAZY like removing body parts to prevent cancer. There was only a 25% chance of me inheriting this mutation, and I won that drawing. You think I want to mess with a greater than 2/3 chance I will seriously GET cancer? Heck no. Especially with 80% of BRCA1 folks getting triple negative cancer. Forget it! If people take time to understand the risk, they get it better, but no one will be as scared as the person with the mutation.
What suggestions would you have for others? ONE. DAY. AT. A. TIME. It is very easy to get wrapped up in a whirlwind of "ifs" and "maybes." Right now I am trying to take my life one day and one doctor's appointment at a time. It is very stressful and feels like forever between appointments and results and appointments, but try to relax and focus on your life today. Exercise. Eat well. Connect with others about your stress in whatever way works for you. But don't let the present time escape you entirely. I refuse to live in fear!
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An interesting genetic story, thanks LuckyDuck7.
"Exercise. Eat well. Connect with others about your stress in whatever way works for you. But don't let the present time escape you entirely. I refuse to live in fear!"
Best advice ever.
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I did the testing because my mother and paternal grandmother died of ovarian cancer. No BC on either side of the family. I am BRCA2+. I did not want to act on this, just wanted to be observed, got an MRI done, which is how my BC was found. I did not discuss being tested with my family prior (I have no siblings and my parents are dead), but told them of the results. I did not consult them on the action plan. Insurance covered the test. My suggestion for others is, only do the test if you have decided to act on the results. Otherwise, it's a huge stress if you turn out BRCA+ and have no action plan
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Thanks so much LuckyDuck7 and Reckless for sharing your story here. Would you be able to send us a photo of you or something that represents you to go along with your story?
Thank you!
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I've already chimed in but I thought I'd add that one of the biggest reasons I had the testing done is because of my kids. I want to be able to give my kids and grand kids a heads up on their genetic legacy. Also, in the future there will be ways to correct and cure cancer way before it starts using genetics and gene therapies. If they know that they are at risk of certain cancers they can act before tragedy strikes.
If you have found genetic counseling useful to you, you may find this article interesting
Genetic Counselors Struggle To Keep Up With Huge New Demand, Kaiser Health News
"... the number of genetic counselors, the people who help both doctors and patients make sense of these tests, hasn't expanded enough to keep up with that demand. There are just 4,000 certified genetic counselors in the country today. That's one for every 80,000 Americans."
For anyone looking for a career this is an exciting option.
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A genetic counselor at the imaging center where I got my mammogram (this was before my BC diagnosis) suggested that I get tested because my sister was diagnosed with IDC. I tested negative for everything except for a mutation of unknown varient (something like that), which at the time, I thought was protective against getting cancer!! No one can explain the familial - yet not genetic - connection to me!
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I waited a long time to see a genetic counselor and I didn't learn anything that I couldn't have learned from googling the topic. And when I got the result: A single BRCA1:c.135-62T>C sequence variant was detected in the BRCA1 gene, the clinical significance of this variant is unknown, I was no wiser than before. Nor was this any help to my adult daughter.
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I have a younger sister that is 44 and she has stage 0 BC. I have a sister that is 47 that has stage 2 BC. I am 45 and have stage 3 BC. We were all 3 diagnosed in the past year. We all 3 have been gene tested and we were all 3 negative. I do have one VUS. I have one other sister who is 54 and she had thyroid cancer at age 18. I have one sister that has no cancer. So not knowing where the cancer is coming from and no other family on my father or mothers side with BC or Ovarian is frightening for our children,,,
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Where do you live and where did you grow up Dawn? Iodine or the lack of it can be a common thread in Both breast and thyroid cancers but the VUS may actually be significant to
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After visiting my Dr. for postmenopausal bleeding an ultrasound showed a complex cyst on my ovary and two poylps in my uterus. Before the bleeding episode I had been experiencing extremely tender breasts and ovarian pain that lasted three weeks. The Dr suggested gentic testing after discussing my family history. I am 58 years old, my mother had breast cancer at age 60 and her only sister at age 75. Three of my grandfather's sisters had ovarian cancer. The testing came back positive for ATM. It seems this rare and I'm not sure how to proceed. I have a diagnostic breast mamo schedualed for next week because of the tenderness I had a couple of months ago and will have the uterine polyps removed and biopsied. I meet with Dr again mid August to discuss further surgery options. I haven' told family about the ATM gene yet, hoping to have more info first.
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I finally have the time to come back to this thread.
Interesting article about the shortage of genetic counselors. My appointment was within a few days of diagnosis (got the news Thur, saw Surgeon Fri, Genetic Wed after that).
Because of my age at diagnosis (2 months into 42), & lack of family hist of ANYthing, it was suggested there probably some mutation in me. I believe they have an 18 panel test from my medical.
My MO explained that it's more for me than anyone else -- to see what might be future treatment plan would be. I have one younger sister, a few cousins, and that's it.
One thing the counselor mentioned, was sometimes there could be discrimination with life insurance if you are +ve? How much does it factor into one's decision for the testing?
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I've heard that too. My DIL's mom is brca1, and DIL was advised to purchase life insurance before testing. I already had some in place so it wasn't an issue with me.
Also my niece is pursuing a masters in psychology and I highly recommend she look into genetic counseling. The pay is good and you can get a job!
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I went thru genetic testing due to an extreme history of cancer on the maternal side of the family. I ended up being considered "uninformed" due to negative testing per BRCA1and 2, PTEN and P53 genes. My mother passed from Ovarian cancer which was very aggressive, between her DX. And her passing away was only three weeks! My aunt had both breast and ovarian cancer. My sister had a hysterectomy at age 44 and there was atypical hyperplasia present in her uterus. Numerous cancers in the family , colon , stomach, and prostrate. Two Pyllodes tumors have shown up in the same side of the family. I also had one in 2009 that was benign...but recently found out something rather "odd" about that tumor. But that's another story.....I donated some of the tumor to U of M ( which is studying Phyllodes) and got some unusual information from one of their researchers. I am heading up to U of M in Oct.
I am French Canadian on my mums side....family originated from France to the Quebec area( don't hold that against me....😐I got chided enough about it growing up in surburban Detroit) a relative still residing in Quebec just tested positive for the PALB2 gene....this could be the "key" to the "Cancer in the family" gene pool? If so, my risk is something along the lines of a 70% chance of developing breast cancer. Might be time for a PMX
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Fleur with all of that female cancer in your family and negative genetic testing how is it that you are considered uninformed? Are you the only family member that has gone through the testing?
I'm really sorry about your Mom. I lost my Mom too to the same thing. She was only 59 at death and died within three weeks of DX. It's 25 years now and I miss her every freakin '. I
Am considered at true negative but at high risk and positive for ADH. Just sucks after all my family has gone through being BRCA 1 through and through and me not but at high risk anyway
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My dad had genetic testing on my mom post-Mortem.....nothing showed up, although back in 2004 I believe that all they looked for was the BRCA series of genes.
Sending big hugs your way regarding your mum....it is hard, isn't it? I found out that she had the cancer while I was in Hawaii....was told that she was stage 3, but wanted to try chemo ( OK, but...) after her first chemo, she went downhill soo fast...by the time I got home a week later, she was in hospice and no longer "with us" mentally or physically.....she shut down and checked out....waited for me to arrive home and passed away 24 hours later....she was a Damm stage 5, no doubt about it! All cancer deaths are horrible, but what sis and I saw...do not wish it on my worst enemy....ovarian is pariculiarly ugly.
I have always questioned anything regarding my own personal health...and mind you, I am a retired research based professional ( pharmacologist....for a personal care product company based out of France) but the extreme sloppiness of her case/staging just sickened me. She should have been staged correctly...and set home to see her days out in peace...but I digress👀😡 I was not there to "raise hell" and demand her pathology be sent out for a second opinion regarding the staging....
I cannot actually say if anyone else had testing, as my mother's side does NOT get along as a rule...but I hear about who gets cancer thru my sister who keeps in touch with a gal who married into the family...her DH was my mums godchild. she is open and will share😎
I am high risk due to family history, ALH, previous Phyllodes, and a immune deficiency, CVID
The immune deficiency causes problems with Rads, as we cannot repair the damage done to our healthy cells via radiation. Chemo is tough, as we all tend to run low on NKiller cells and WBC counts.
I am set to see the Geneticist at MDA "again" in November...it will be a fight to the mat....he will want me on an AI...and I will refuse...why? Because of the clotting disorder...been there, done that. Tried it 5 yrs back and ended up in the ER with leg cramps so bad that the doc believed I had DVT's. In both legs......so much for AI's not causing thrombotic incidents. No DVT's, but blood work suggested that I was "heading in that direction". I was told AI's do not effect the clotting factors in the body, but a call to the drug company( and a talk with one of their own pharmacologists) suggested otherwise.
I am considering a PMX, but due to Factor V Leiden( genetic clotter) flaps are not a choice due to high risk of failure, and infection. Implants are scary due to not knowing how by body will handle them, and the risk of infection during the TE and fill process. My only choice might be a MX with direct to implant. Less surgery. Let the implant be the scaffolding for fat transfer at a later date with Dr. Khouri in Miami. Already talked with them about it, it is doable. I am flat chested, so not too much to rebuild! 😛🙄
This might be TMI, if so....sorry!
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no not at all and almost exact same story with my mother . Exact timing and series of downhill events within three weeks. She died in my arms.
I have type 1 Diabetes too . Cancer and type 1 will surely kill me. You have no idea how hard it is to be type 1 on 24/7 insulin until it happens to you . I've had this since I'm 60.
It's a hard decision. I can't really do it with the Diabetes preemptively. Surgery with Diabetes could itself be a death sentence . I wish you luck and strength if you go that way surgically and I bet you will do fine . These decisions are daunting.... For all of us
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Wow Dtw79, they did not discover your type 1 Diabetes until age 60, am I reading that right? I am so sorry😥 Big Hugs to you! If you only found out at age 60, how did the doctors miss the DX. For so long?
Pre-emptive surgery would certainly be difficult in your situation, and I have to admit that I know nothing about insulin 24/7. Being a reactive hypoglycemic is bad enough. Even with a high protein, no sugar, low carb diet my numbers were in the basement .....actually metformin helps keep my numbers normal...no more light headedness and hypoglycemic shakes, headaches and sweats. Who would have thought that a drug ment to lower BS could actually keep it from dropping.
Sorry about your mum...that must have been so hard to have her pass on in your arms...but just know that you comforting her helped her greatly...my mom died at 5am, after everyone finally went to bed for the night...a hospice nurse was there and woke us up to tell us
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You are right Fleur . It totally sucks especially in the context of bc as it limits my options . Most of you as bad as this is, have more options than I .
I discovered my own Diabetes at age 59 precisely . I couldn't score an accurate DX for a year because docs didn't believe I could be type 1. I am clearly a type 1 and I knew that. It's called LADA . Late onset autoimmune Diabetes of adulthood and it happens a lot more than people think.
I do also take Metformin and I happy to hear that it helps reactive hypos . I had no idea and frankly I can't imagine why. Reactive hypos are not fun so it's good you found something that helps . sadly and I pray this isn't your case, reactive hypoglycemia can be a precursor to Diabetes.
Wishing you lots of luck with your MX decisions . I take Evista and so far I have no idea if it helps but I've had virtually no SEs from this drug. Grateful for that at least
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Hello,
I am a person with LCIS who did Tamoxifen for 5 years and have had monitoring for 12 years with no significant breast issues. However, last year I was diagnosed with thyroid cancer. It was papillary w/follicular component. No BRAF in the tumor thank goodness, so not a metastasizing type of thyroid cancer. I just sent in a sample of saliva for expanded BRACA1/2 testing to Ambrey Genetics. My oncologist sent me due to the fact I had LCIS and then 11 years later the thyroid cancer showed up. Also maternal grandmother and her sister both had breast cancer, plus 2 of my maternal cousins have been stricken. One cousin is fine, the other had it metastasize quickly to her liver ,(within 3 years of her initial diagnosis). What was interesting is the cousin now fighting breast cancer in her liver had no genetic mutation. So I decided to bite the bullet and do genetic testing to see if there is a hereditary component. I probably would be willing to share the outcome of the findings if there isn't something really dire that they uncover, then I will be writing to you to ask for support. I was 53 when the LCIS was diagnosed and 63 when the thyroid cancer was diagnosed. Maybe you can help, I am trying to find info. on a link between LCIS and thyroid cancer. Is there one? Does anyone know? Seems the medical community is divided on this issue. I only took Tamoxifen for the LCIS so the guess that radiation to the breast for clean-up after invasive cancer as a possible cause for thyroid cancer doesn't work in my situation. I have heard another theory that it is the Tamoxifen that could cause it as it interrupts a natural estrogen pathway. Let me know. Thanks
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There is definitely a link and it may be lack of iodine. Get your iodine checked and read David Brownsteins book on iodine
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Just gave blood for genetic testing today. I'm pre-menopausal and on my father's side of the family, his mother, his sister, and now his daughter (me), all have had breast cancer. The genetic counselor told me that my insurance (United Healthcare) has strict criteria for paying for genetic testing. I met it because of being diagnosed pre-menopausal and having 3 generations in the family showing up with cancer. I have been estranged from my family for years but have reconnected with my brother. He is also estranged from the family and has a daughter. If there's some genetic mutation, I'd like her to know.
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I think that is very kind of you
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I'm so glad to see people talking about this very important testing. I was first introduced to Breast Cancer at the age of 13, my mother was diagnosed at age 40. She lived a little less than 5 years. The fear of this disease has always been in the back of mind. As I got older and went to the doctor I always filled out the paperwork at the Doctors offices telling them my personal history with breast cancer. Not 1 of my gynecologists/doctors has ever said to me, "Hey it would be a good idea for you to be tested for BRCA. " I thought about getting tested in my 30's, then after I turned 40. BUT, I had religiously been having mammograms for years. No sign of cancer. Then in May 2016 at 44 years old, I felt something painful, hot and red on my left breast. Long story short it was breast cancer and my worst nightmare had come true. My breast surgeon highly suggested that I be tested for BRCA. I decided to have the test. It was a surprise to her that it came back positive for BRCA 1. I took this news much harder than the diagnosis of cancer. I have dealt with the reality of my diagnosis and I am thankful for the advancements that have been made in this area of (possibly life saving) screening. I will have my ovaries and Fallopian tubes out next year as a preventative measure for ovarian cancer. I have a 23 year old son who will be tested sometime in the next few years. I have not met with a genetic counselor, I have only discussed this with my breast surgeon and my oncologist. I should have listened to my instincts and demanded that i be tested at an earlier age. I quite possibly could have avoided this whole cancer diagnosis. I highly recommend to anyone that has a family history to be tested. The company that did my testing was Myriad they will work work you on payments. After finding all this out it turns out that my Mothers father and his mother both passed away from cancer. I did not know these people and my Mom never shared the info with me.
Check your family tree, ask questions, get tested if your concerned.
Knowledge is power to survive and to help your future generations.
Love to all!
Thank you,
Liz
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