Printed as commentary in the Owosso Argus Press 10/15/07 - five months post BPM
Their title - Cancer prevention too aggressive course for physician.
__________________________
My Title - Proud to be able to make life affirming choices to reduce cancer risk - I like it better.
I had always assumed that I was at high risk for breast cancer. Mom had been diagnosed with it in her 40s. Dad’s sister had breast cancer in her 40’s. I am single and never had any children and am overweight. If you had asked me or my physician, we would have estimated my risk to be around 18%. The average woman has a 12% risk. Because of these risk factors, my doc started me on screening mammograms before age 40, and even mentioned taking tamoxifen as a preventative measure.
Despite studying families with hereditary breast and ovarian cancers in medical school, it never occurred to me that I might be at risk of carrying a “breast cancer” gene until my aunt tested positive for BRCA1 mutation in March of 2006. I am so thankful that my cousin recognized that her mother might be at risk, after having breast cancer in her 40s and then having it return in the same breast after lumpectomy.
BRCA1 and BRCA2 are breast and ovarian cancer prevention genes, which if normal help protect a woman from getting either type of cancer. A mutation of these genes can be inherited from one’s mother or father. If one parent has the faulty gene, then there is a 50 % chance that each child will get it. These mutations are rare, affecting about one in 50 women of Ashkenazi Jewish heritage (Northern European) and about 1 in 500 women of other heritage.
Nine months after my aunt told us about her situation, my father tested and found out that he also carried the mutation.
Once Dad’s test came back, I immediately went to the internet to learn more about this condition, as I suddenly realized I had a 50% chance of inheriting it as well. I was looking for a loophole that meant I did not have to worry. While waiting to test myself, I spent 2 weeks online reading scientific articles and feeling very scared and alone. It was hard to accept having such a high risk of getting cancer, and even harder to imagine having to decide about the various risk reduction strategies, including preventative surgery.
It was during this time that I found FORCE. ( www.facingourrisk.org ) Facing Our Risk of Cancer Empowered is an organization started by Sue Friedman, a veterinarian who learned that her breast cancer at age 33 was the result of a BRCA mutation. This website includes resources and information for other women facing the prospect of hereditary breast or ovarian cancer.
(Most useful to me is the message board, where hundreds of women and a few men have posted stories, questions and discussions about every aspect of this syndrome. I knew I was in the right place after reading about a woman in New Zealand, my age, with my name, who was involved in the process of taking action to minimize her risk of getting cancer. - edited out) Despite the fact that this syndrome is so rare, I was able to get advice from women all over the world, who understood exactly what my hopes and fears were. The site was so comforting. ( These people held my hand, virtually, as I waited for test results and then served as guides, as I wound my way through the array of preventative options available to me. Edited out)
This year, I learned that I had tested positive. I had inherited a breast cancer gene mutation.
Despite the scary news about my condition, I felt blessed and very thankful that my cousin had appropriately assessed the risk of this gene being present in our family, and encouraged my aunt to test. I am also so thankful that my aunt was proactive, got tested, and gained the knowledge that my sisters, cousins and I needed to be aware of our risks.
Most people recommend seeing a certified genetics counselor before testing, but I did things a little backwards. After my test results were received, I looked to this expert regarding this rare condition to help me figure out what my options were to minimize my risk of getting cancer.
My choices included surveillance, medications or surgery.
Surveillance means frequent testing to try to catch cancer at an early and curable stage. (To me, it seems like a reasonable option for managing breast cancer risk, because clinical breast exams( by physician, PA or Nurse Practitioner), mammogram and MRI are pretty good at catching breast cancer at an early stage. I am not comfortable with the idea of surveillance as a strategy for managing ovarian cancer risk in a patient with a BRCA mutation, because there is not any test which can reliably catch ovarian cancer at a treatable stage. Edited out)
Medication treatment would involve using tamoxifen to limit my exposure to estrogen, and therefore decrease the risk of breast cancer. ( benefit is higher in women who start treatment at a younger age. Edited out)
I, however, was determined not to get cancer at all, and opted for risk reduction surgery instead. I did not want to have to worry about whether or when I would have to take 9 months out of my life to fight cancer. I had watched my mother thrive after having bilateral mastectomies to treat and prevent recurrent cancer after her diagnosis. A friend labeled my decisions “life affirming.” I like that term.
The removal of the ovaries was my first priority. Usually it is recommended to do this surgery at age 35 in women with my mutation, because this age seems to balance the risk of getting cancer with the side effects of no longer having the usual hormones that younger women should have (surgical menopause.) (I opted for a laparoscopic surgery and my recovery was quick and nearly painless. I was able to return to work in 10 days and have been lucky that my menopausal symptoms have been minimal. Edited out)
Next up was the BPM. This is short for bilateral prophylactic (preventative) mastectomy, or removal of both breasts. It was tough for me to grasp the notion that this was the “best” option for me to avoid getting breast cancer. (One medical text pointed out that this preventative step is actually more drastic than the treatment for a usual case of early breast cancer. Edited out) Unfortunately, because of the gene mutation, I knew that if I waited to get breast cancer, there was no guarantee that I would catch it early enough to be able to avoid chemotherapy. (There would be a risk that it could spread to lymph nodes or other organs and be incurable. –edited out)
The next decision that I faced was whether to have reconstruction or not. I was pleasantly surprised to learn of my options for surgical reconstruction and to see that the results looked much better than I imagined. I was, however, very interested in getting back to work and life quickly and ultimately decided not to have reconstruction. I did worry about what people would think, who would notice, how I would look, and how I would cope with the whole situation. ( My therapist and I decided that I would be able to handle whatever ensued. Edited out)
The surgery was uneventful. I woke afterward, relieved to be done. I did have some pain for several weeks after surgery. (This was an interesting situation for me, because I frequently prescribe pain medications for patients and had never needed them myself in the past. It was educational to see that I needed higher dosages than average right away, and a relief to see that the new nerve pain medication worked so well. Edited out) For the first 4 weeks after surgery, my assignment was to rest and let my body heal. Then, I was on to the rehab phase where I was allowed to gradually increase my activity and begin to exercise. I was very glad to be back to biking, golfing and yard work 6 weeks after surgery.
I have been pleasantly surprised that strangers don’t seem to notice my, new, flat appearance. Clothes fit well and my diet and exercise program seems to be going well. ( I am very committed to losing ‘the other 60 pounds of excess health risk.’ Edited out)
Last week one of my colleagues asked about the impact of my surgeries on my likelihood of getting cancer. I felt relief and pride as I rattled off the change in my cancer risks. Breast cancer risk decreased from 87% to 2% and ovarian cancer risk from 44% to 2%. (It is very nice to be done. Edited out)
I am glad to be able to share my story, in the hopes that others will become more aware of hereditary breast and ovarian cancer syndrome, of the availability of testing, and of the fact that many women are glad to have the information and the choice of how to manage their risk of cancer if they have a faulty BRCA gene. Certainly it is a scary subject, and it is important to realize that most breast and ovarian cancer is NOT hereditary. Indicators of risk for a BRCA mutation include: breast cancer before the age of 50 or ovarian cancer at any age, mother, grandmothers, sisters or aunts with breast cancer before 50, any relative with ovarian cancer, a male relative with breast cancer, or if 2 or more close relatives had breast cancer. Those who think they might be at risk should ask their doctor about whether genetic counseling would be appropriate for them. Those at high risk should start screening with annual breast MRI's in their 30's.
All women should follow the recommended screening routine to ensure that breast cancer is caught early. Early stage breast cancer is very treatable.
1. All women age 40 and older should have a screening mammogram every year and should continue to do so for as long as they are in good health.
2. All women in their 20s and 30s should have a clinical breast exam (CBE) as part of a periodic (regular) health exam by a health professional preferably every 3 years. After age 40, women should have a breast exam by a health professional every year.
3. Self breast exam is recommended for all women over 20.
____________________________________________
This paragraph belongs in the article, but unfortunately I did not include it. Written for another source
Although ovarian cancer is relatively rare (1 in 67 women will get it), it is difficult to catch early. Most of the warning signs more commonly represent other conditions. There are new recommendations, however that women who have daily symptoms for more than a few weeks should see a gynecologist, particularly if these symptoms represent a change from normal, or become more severe. Symptoms of concern include: bloating, pelvic or abdominal pain, trouble eating or feeling full quickly, or urinary symptoms such as always feeling like you have to go or going more often.
Showing posts with label HEREDITARY CANCER. Show all posts
Showing posts with label HEREDITARY CANCER. Show all posts
Saturday, October 06, 2007
Saturday, March 31, 2007
March 17th FORCE post, Genetics Counselor Appt.
Hello all. Was incredibly nervous heading into the genetics counselor meeting, despite knowing much of what would be said. Genetics counselor was nice, and helpful. A moment of panic, as I was lead into a normal exam room. I think I would have freaked out a little if I had to gown up for the GC (genetics counselor )appt. Definitely did not fit my vision of a consultation in an academic office across her desk.
Oh well. We did still trade articles. Gave me the spiel about all of my "bad" conservative options. I had not been aware of how little use tamoxifen was for BRCA1 bc(breast cancer) prevention. She made it sound like only 1/3 or less reduction in BC risk, as more of the tumors end up being estrogen receptor negative. Agreed that I am probably too old to get much bc prevention benefit by having ovaries out.
All ( GC, oncologist, and resident) seemed relieved that I was opting for surgical risk reduction. Optimistic news about the gyn onc doing supracervical hysterectomy through the laparoscope. They seemed to agree that no recon fits with my goal of being off work as little as possible. No funny looks. PS appt was briefly offered, but not pushed.
The doc was quite interested in my history of already having a colon polyp removed. I am due for repeat colonoscopy in Sept. (great, one more thing to stress over. Stats are ambivalent about BRCA1 and colon cancer. I guess the stats don't matter that much as a gal with a polyp at 40) My gastroenterologist is praying for me.
The packet of info include several FORCE newsletters and the flyer for the conference. Whitney will be going to the FORCE conference.
Good info about having brothers start high risk prostate screening at 40 instead of 50.
So weird being a patient. So nice to walk into the Breast Center without cancer. Very motivating to keep it that way.
So, it does feel more real, having the folks who know confirm that my research and my FP(family practice doc) and my Gyn are all correct. Sucks to be right. (how could I not be with such good info and advice from the FORCE site)
Arrived at work yesterday to find an article from my local Gyn about ovca (ovarian cancer) in BRCA carriers. Not sure what his point is. I guess, a gentle reminder not to take too long to get mine out. I messaged him back about my concerns regarding BRCA pathology protocol and occult ovca found at rr ooph (risk reduction oophorectomy - ovarian resection). No response yet. Got an email last night from my proactive cousin, urging me to get my ooph soon. While waiting for her mom's skin graft, she got to sit next to a different high school acquaintance who at 36 was alone in the waiting room, ready to get her chemo port in for treatment of ovarian ca.
After listening to my biological clock wind down for so many years, who knew that it was the switch for tiny internal time bombs.
Grieving the impending loss of my fertility, even though I have been deciding for 5 years that a child would not fit into the life that I had, and not willing or able to change the situation enough to make it work.
So what else is going on:
1. still struggling with a challenging "presumed" metastatic bc patient electing not to clarify her dx or take chemo.
2. bought my luminaries for the local Relay for Life event. Scheduled May 18-19. I bought 8, but realized that I forgot one for my high school friend in the Ukraine and my uncle who died of throat CA. 2 years ago it was a shock to count up the relatives with cancer. Now it just raises the curiosity level. No ovca thankfully.
3. Enjoying reading and posting obsessively on the FORCE site.
4. PT. felt like my therapist was trying to kill me yesterday. Turns out my round shouldered posture has been hiding how prominent my breasts actually are. Feels very weird to be improving posture, making them more prominent right before I get them cut off. Trying not to feel guilty for indulging myself in the magical PTs services for a sore neck at a time like this. I know it will help in the long run.
5. obsessively watching my email. Surprised at how few responses I got from my first round of mass emailing people. Very appreciative of the ones who have written back. It makes a great distraction for me. Helps me feel connected.
6. Fretting about my youngest brother, who is usually quite communicative, but who has been too busy to finish a phone call, and has not emailed. I hope he is just busy.
7. Enjoying my sister's blog site with new pictures of her daughters. She is perplexed about how the love of princesses and the color pink is transmitted as both mom and dad have worked hard not to encourage it. Her pre-school is the most progressive ever, with rules against comercial toys, policies against passing on gender stereotyping etc. It was painful for Aunt Margaret to have to buy a disney princess Leapfrog book for her. (And some of the messages in it are horrible. Ariel asking her husband if she can ever go back and visit her family. Yuck.) No offense to the princesses on this site.
8. Being interrupted from typing this post by the 4 deer grazing in my back yard. So nice to get absorbed in the moment. They stayed 10 minutes. Fun to indulge my naturalist tendencies.
9. Told my first menopause joke.
10. Found a new way to make my patients cry. One, who is quite well connected to the hospital gossip network asked me straight out what was going on and then broke out in tears and hugged me. (usually I make them cry by being too blunt or by being a mean pain doc)
11. Practicing golf at the indoor range. Focus, being in the moment. Emotions leaking through. Grieving the loss of part of the golf season. Inspired to be back by August to take on one of my nemesis courses for the Mich women's golf assn state tournament. Last time we played there I think I shot 113, with a 20 handicap.
12. Feeling blessed and amazed by the sequence of events that got me here and able to be saving my life. I do hear you ladies, who remind me that there does not have to be a reason for God to bless me with this chance. Hard to not feel some responsibility from it. More on this in a separate post.
13. Gradually feeling more accepting that BRCA1 + and rr(risk reduction) surgeries are my fate for this spring. When speaking with my therapist, I told her that I can't believe this is happening to me, but can't really imagine who else it should happen to.
14. Feeling very chic. Oprah, Self and Cosmo in the same month. Thankfully the cosmo article is online at BeBrightPink so I do not have to undergo the trauma of buying all three magazines for the first time ever.
15. Wondering whether I should be writing a book. Revising my plans for the blog. Wishing that I was able to take advantage of the current climate and have something ready soon.
Oh well. We did still trade articles. Gave me the spiel about all of my "bad" conservative options. I had not been aware of how little use tamoxifen was for BRCA1 bc(breast cancer) prevention. She made it sound like only 1/3 or less reduction in BC risk, as more of the tumors end up being estrogen receptor negative. Agreed that I am probably too old to get much bc prevention benefit by having ovaries out.
All ( GC, oncologist, and resident) seemed relieved that I was opting for surgical risk reduction. Optimistic news about the gyn onc doing supracervical hysterectomy through the laparoscope. They seemed to agree that no recon fits with my goal of being off work as little as possible. No funny looks. PS appt was briefly offered, but not pushed.
The doc was quite interested in my history of already having a colon polyp removed. I am due for repeat colonoscopy in Sept. (great, one more thing to stress over. Stats are ambivalent about BRCA1 and colon cancer. I guess the stats don't matter that much as a gal with a polyp at 40) My gastroenterologist is praying for me.
The packet of info include several FORCE newsletters and the flyer for the conference. Whitney will be going to the FORCE conference.
Good info about having brothers start high risk prostate screening at 40 instead of 50.
So weird being a patient. So nice to walk into the Breast Center without cancer. Very motivating to keep it that way.
So, it does feel more real, having the folks who know confirm that my research and my FP(family practice doc) and my Gyn are all correct. Sucks to be right. (how could I not be with such good info and advice from the FORCE site)
Arrived at work yesterday to find an article from my local Gyn about ovca (ovarian cancer) in BRCA carriers. Not sure what his point is. I guess, a gentle reminder not to take too long to get mine out. I messaged him back about my concerns regarding BRCA pathology protocol and occult ovca found at rr ooph (risk reduction oophorectomy - ovarian resection). No response yet. Got an email last night from my proactive cousin, urging me to get my ooph soon. While waiting for her mom's skin graft, she got to sit next to a different high school acquaintance who at 36 was alone in the waiting room, ready to get her chemo port in for treatment of ovarian ca.
After listening to my biological clock wind down for so many years, who knew that it was the switch for tiny internal time bombs.
Grieving the impending loss of my fertility, even though I have been deciding for 5 years that a child would not fit into the life that I had, and not willing or able to change the situation enough to make it work.
So what else is going on:
1. still struggling with a challenging "presumed" metastatic bc patient electing not to clarify her dx or take chemo.
2. bought my luminaries for the local Relay for Life event. Scheduled May 18-19. I bought 8, but realized that I forgot one for my high school friend in the Ukraine and my uncle who died of throat CA. 2 years ago it was a shock to count up the relatives with cancer. Now it just raises the curiosity level. No ovca thankfully.
3. Enjoying reading and posting obsessively on the FORCE site.
4. PT. felt like my therapist was trying to kill me yesterday. Turns out my round shouldered posture has been hiding how prominent my breasts actually are. Feels very weird to be improving posture, making them more prominent right before I get them cut off. Trying not to feel guilty for indulging myself in the magical PTs services for a sore neck at a time like this. I know it will help in the long run.
5. obsessively watching my email. Surprised at how few responses I got from my first round of mass emailing people. Very appreciative of the ones who have written back. It makes a great distraction for me. Helps me feel connected.
6. Fretting about my youngest brother, who is usually quite communicative, but who has been too busy to finish a phone call, and has not emailed. I hope he is just busy.
7. Enjoying my sister's blog site with new pictures of her daughters. She is perplexed about how the love of princesses and the color pink is transmitted as both mom and dad have worked hard not to encourage it. Her pre-school is the most progressive ever, with rules against comercial toys, policies against passing on gender stereotyping etc. It was painful for Aunt Margaret to have to buy a disney princess Leapfrog book for her. (And some of the messages in it are horrible. Ariel asking her husband if she can ever go back and visit her family. Yuck.) No offense to the princesses on this site.
8. Being interrupted from typing this post by the 4 deer grazing in my back yard. So nice to get absorbed in the moment. They stayed 10 minutes. Fun to indulge my naturalist tendencies.
9. Told my first menopause joke.
10. Found a new way to make my patients cry. One, who is quite well connected to the hospital gossip network asked me straight out what was going on and then broke out in tears and hugged me. (usually I make them cry by being too blunt or by being a mean pain doc)
11. Practicing golf at the indoor range. Focus, being in the moment. Emotions leaking through. Grieving the loss of part of the golf season. Inspired to be back by August to take on one of my nemesis courses for the Mich women's golf assn state tournament. Last time we played there I think I shot 113, with a 20 handicap.
12. Feeling blessed and amazed by the sequence of events that got me here and able to be saving my life. I do hear you ladies, who remind me that there does not have to be a reason for God to bless me with this chance. Hard to not feel some responsibility from it. More on this in a separate post.
13. Gradually feeling more accepting that BRCA1 + and rr(risk reduction) surgeries are my fate for this spring. When speaking with my therapist, I told her that I can't believe this is happening to me, but can't really imagine who else it should happen to.
14. Feeling very chic. Oprah, Self and Cosmo in the same month. Thankfully the cosmo article is online at BeBrightPink so I do not have to undergo the trauma of buying all three magazines for the first time ever.
15. Wondering whether I should be writing a book. Revising my plans for the blog. Wishing that I was able to take advantage of the current climate and have something ready soon.
Tuesday, March 06, 2007
Now What?
The shock of my diagnosis is slowly lifting. I have told family. I have told bosses. Started telling friends and associates. Not yet patients.
I have a genetics counselor appointment on the 15th, more than a week away. 3 surgeon appointments on the 26 through the 28th. Way too far from now.
I have had a few concerned looks and many supportive emails. A few surprised looks from people. I have explained plans to good friends and new coworkers. In general, not as bad as expected.
I have mailed packets of information to brothers, sisters, uncles and attempted to email the same information to 2 of dad's cousins. I cheated and did not use the statistics, sparing me the nausea and the recipients the shock. I have circulated the blog address so all can delve as deeply as they like.
I have been informed that at some point, I actually need to feel what is going on. Not sure I want to do that yet. What feelings I have had so far come in shades and flavors I have not experienced before and am a little reluctant to learn about.
So... I surf the internet, and read the posts on the FORCE site. I have bought silicone bracelets in teal to match my pink one. Procrastinate work and stare into space.
Found an interesting series on my situation through another woman's eyes, on Slate. Passed a good hour doing that. http://www.slate.com/id/2102171/entry/2102173/
Only 188 hours before my meeting with the genetic counselor, who I am afraid will not tell me that I miscalculated somewhere and do not have to worry about this syndrome, or my choices.
I have a genetics counselor appointment on the 15th, more than a week away. 3 surgeon appointments on the 26 through the 28th. Way too far from now.
I have had a few concerned looks and many supportive emails. A few surprised looks from people. I have explained plans to good friends and new coworkers. In general, not as bad as expected.
I have mailed packets of information to brothers, sisters, uncles and attempted to email the same information to 2 of dad's cousins. I cheated and did not use the statistics, sparing me the nausea and the recipients the shock. I have circulated the blog address so all can delve as deeply as they like.
I have been informed that at some point, I actually need to feel what is going on. Not sure I want to do that yet. What feelings I have had so far come in shades and flavors I have not experienced before and am a little reluctant to learn about.
So... I surf the internet, and read the posts on the FORCE site. I have bought silicone bracelets in teal to match my pink one. Procrastinate work and stare into space.
Found an interesting series on my situation through another woman's eyes, on Slate. Passed a good hour doing that. http://www.slate.com/id/2102171/entry/2102173/
Only 188 hours before my meeting with the genetic counselor, who I am afraid will not tell me that I miscalculated somewhere and do not have to worry about this syndrome, or my choices.
Thursday, March 01, 2007
Test is positive - at least the waiting is over
Got my test results today. Even though I had sort of expected them to be positive, was a little stunned by the reading the test.
Have been busy telling people. Partly to get enough people told before the shock of it wore off. So... on to the next steps.
And all of the questions that I have been refraining from entertaining until I knew one way or the other.
Had my mamm and TVU (transvaginal ultrasound )today. No call backs, so that is a good sign. Will get CA-125 (blood test which gets elevated in ovarian cancer) tomorrow. Feeling ok about being cancer free and not too late to be in the risk reduction category. DSO was supportive, despite me telling her by phone. I knew I could not make it all day without telling anyone and did not want her to find out from anyone else. Mom and Dad were also supportive, despite being distant on the subject before. Bosses and co-workers are great so far. I anticipate more shock and disbelief at my risk reduction strategies as I go on. Stumbled on to a very nice GC (genetic counselor) at a hospital about 2 hours away, but near DSO's family. And at the center where our friend is having her surgery in a few weeks. They have a BRCA clinic at Beaumont , and GYN/Onc, and a dedicated breast surgeon. Should pass muster as far as seeking experts. Appointment with Whitney Ducaine, CGC on 3/15 and encouraged to set up appointments with the surgeons before then. Anxious to move on to action.
So, for the questions? To hyst or not to hyst? I have no known uterine problems, no cancer anywhere, I hope? Doubt that I will want to take steroids, or that my FP would give them to me. BPM (Bilateral prophylactic mastectomies )and oophorectomies together or separately? I have never been off work for even 2 weeks the past 11 years. Practice pretty much shuts down when I am not working. Relatively healthy, I think I have a high pain tolerance. (niece has congenital indifference to pain and feels none. )
How long after BPM can I push hard on my golf cleat tool to change DSO golf spikes? How long to golf? How soon to come back to work? Not planning recon. Will I be able to wear those golf shirts that are too small for my 42Ds now. if I go without prostheses? (Mom warns that I will be pear shaped. Also says that people are either too kind to say anything or don't notice. She had BPM 20 years ago for LCIS and estimates that she wears a bra with prosthesis or socks a couple times per year. I generally care less about what people think about how I dress than she does. ) Who to tell and how? I am considering sending out a mass email at work. There are 10 or so nurses, several administrators, and 10 or so docs that I am close enough with to definitely tell, and will be talking about it( maybe once or twice?:J) in front of many others, as my main social interactions with these folks are on the wards during rounds. Knowing that some will consider a mass email weird. Knowing that my absence for 3 weeks will definitely be missed, and after, the absence of my breasts will definitely be noticed.
Also considering letting myself be a news story in the local paper. Has anyone done that? It just seems so random and senseless, that the teacher in me wants to find some meaning. This all makes DSO very nervous.
Good things about the challenge of being BRCA1 positive
1. Way better than having cancer.
2. Life lessons
3. No way for my uncles and cousins to ignore the potential impact of our family genetic issue.
4. Get to be a real live amazon.
5. Don't have to worry of mom's LCIS makes me at higher risk.
6. Good reason to reach out to old friends and make new friends.
7. Excellent reason to re-prioritize my life.
8. Head start on the new weight loss program.
9. Learning what it is like to be a patient.
Bad things about having ghe challenge of being BRCA1 positive
1. Surgeries
2. Funny looks from people who think I am being radical
3. Worry about getting cancer before I am done reducing my risk. (and after, I guess)
4. Stress for me, co-workers, family, DSO etc.
5. Time off work, away from golf, etc.
6. Having to be a patient.
That is enough for now.
Have been busy telling people. Partly to get enough people told before the shock of it wore off. So... on to the next steps.
And all of the questions that I have been refraining from entertaining until I knew one way or the other.
Had my mamm and TVU (transvaginal ultrasound )today. No call backs, so that is a good sign. Will get CA-125 (blood test which gets elevated in ovarian cancer) tomorrow. Feeling ok about being cancer free and not too late to be in the risk reduction category. DSO was supportive, despite me telling her by phone. I knew I could not make it all day without telling anyone and did not want her to find out from anyone else. Mom and Dad were also supportive, despite being distant on the subject before. Bosses and co-workers are great so far. I anticipate more shock and disbelief at my risk reduction strategies as I go on. Stumbled on to a very nice GC (genetic counselor) at a hospital about 2 hours away, but near DSO's family. And at the center where our friend is having her surgery in a few weeks. They have a BRCA clinic at Beaumont , and GYN/Onc, and a dedicated breast surgeon. Should pass muster as far as seeking experts. Appointment with Whitney Ducaine, CGC on 3/15 and encouraged to set up appointments with the surgeons before then. Anxious to move on to action.
So, for the questions? To hyst or not to hyst? I have no known uterine problems, no cancer anywhere, I hope? Doubt that I will want to take steroids, or that my FP would give them to me. BPM (Bilateral prophylactic mastectomies )and oophorectomies together or separately? I have never been off work for even 2 weeks the past 11 years. Practice pretty much shuts down when I am not working. Relatively healthy, I think I have a high pain tolerance. (niece has congenital indifference to pain and feels none. )
How long after BPM can I push hard on my golf cleat tool to change DSO golf spikes? How long to golf? How soon to come back to work? Not planning recon. Will I be able to wear those golf shirts that are too small for my 42Ds now. if I go without prostheses? (Mom warns that I will be pear shaped. Also says that people are either too kind to say anything or don't notice. She had BPM 20 years ago for LCIS and estimates that she wears a bra with prosthesis or socks a couple times per year. I generally care less about what people think about how I dress than she does. ) Who to tell and how? I am considering sending out a mass email at work. There are 10 or so nurses, several administrators, and 10 or so docs that I am close enough with to definitely tell, and will be talking about it( maybe once or twice?:J) in front of many others, as my main social interactions with these folks are on the wards during rounds. Knowing that some will consider a mass email weird. Knowing that my absence for 3 weeks will definitely be missed, and after, the absence of my breasts will definitely be noticed.
Also considering letting myself be a news story in the local paper. Has anyone done that? It just seems so random and senseless, that the teacher in me wants to find some meaning. This all makes DSO very nervous.
Good things about the challenge of being BRCA1 positive
1. Way better than having cancer.
2. Life lessons
3. No way for my uncles and cousins to ignore the potential impact of our family genetic issue.
4. Get to be a real live amazon.
5. Don't have to worry of mom's LCIS makes me at higher risk.
6. Good reason to reach out to old friends and make new friends.
7. Excellent reason to re-prioritize my life.
8. Head start on the new weight loss program.
9. Learning what it is like to be a patient.
Bad things about having ghe challenge of being BRCA1 positive
1. Surgeries
2. Funny looks from people who think I am being radical
3. Worry about getting cancer before I am done reducing my risk. (and after, I guess)
4. Stress for me, co-workers, family, DSO etc.
5. Time off work, away from golf, etc.
6. Having to be a patient.
That is enough for now.
Tuesday, February 27, 2007
BRCA1 and BRCA2 gene mutations - Genetics
****Caveat: I am just a physiatrist,(PMR doctor) not a genetics specialist. But... suddenly very interested in genetics. ****
This is an edited copy of some explanations about BRCA gene mutations from the FORCE site.
BRCA1 is actually a breast and ovarian cancer preventative gene, on the 17th chromosome, which when certain mutations - abnormalities that interfere with proper gene function - occur, then the person carrying it is at high risk of developing one or both cancers.
Each person carries 2 - 17th chromosomes one from their mother's egg and one from their fathers sperm. As a person's body produces each egg and each sperm half receives one or the other chromosome. Usually a person would have one normal and one mutated gene. ( I guess most people not surfing this web site have 2 normal copies. ) So, the 50/50 chance that the offspring will get the defective gene or the normal gene, at the time of conception. The HBOC (hereditary breast and ovarian cancer syndrome) is an autosomal dominant inheritance situation, so having one defective (not sure that sounds any better than mutant) gene is necessary to cause all of the cancer risk associated with the syndrome.
(Autosomal means on a non sex linked chromosome, so you can get it from mom or dad. Dominant means that you only need on copy of the gene to have the effect)
As a carrier of a BRCA1 mutation, your daughter or son has a 50% theoretical chance of getting or not getting the gene, decided at conception, assuming her dad does not also carry a gene mutation(and that you have one normal BRCA1 gene). Nieces are only at risk if their related parent is positive for the BRCA1 gene mutation, 50 % chance, so testing of the related parent is the first step in determining their risk.
As far as manifestation of the gene mutation, this term is called penetrance, and the studies show that there is a very high penetrance, meaning high likelihood that the presence of the mutation will raise risk for causing a cancer. (this is more complicated that in normal genetics, as the mutation only interferes with body’s ability to heal cellular mutations that can cause cancer, so some carriers will never get cancer.
So the only loophole is that statistically only half the offspring should get it. Unfortunately for many of the families listed here, the stats don't always hold. In my family, for instance, I have 2 sisters, with Dad being positive for a BRCA1 mutation. So... I have a 50% chance of testing positive, and each of my sisters have a 50% chance. And that means only a 12.5% chance that all three of us are negative, and a 12.5% chance that all three of us are negative. There are a bunch of different mutations, and appear to act a little differently, so I am not confident that my avoidance of BC or OVCA until age 43, is any indicator of what my results might be.
Everything about applies equally to the BRCA2 mutations, except that it is carried on the 13th chromosome. BRCA2 mutations cause breast cancer in men, and the cancer rates for women are somewhat different.
Response to question about penetrance and risk:
You raise a very good question, and point out interesting issues about BRCA and hereditary breast and ovca(ovarian cancer) statistics. It would be wonderful if your hypothesis(that the same mutation carries lower risk in families without high incidence of cancer) was true, but it is not, as far as my reading indicates. Below is a long winded explanation.
****Keep in mind that this is a very complex syndrome with a lot of variables, so not everything applies to every person finding this message board.****
*****I will be going to a genetics counselor whether or not my test is positive, to have someone professional re-assess my specific situation.*****
What we know about genetics comes initially from observing non - pathologic traits, over several generations, by observation. Mendel studied peas, human geneticists studied eye color, hair color, whether you can roll your tongue, whether you can taste sour things, blood type etc. In these areas, penetrance is very high, and it is easy to see how the genes behave because you can look at them and see that if mom has blue eyes and dad has brown eyes, that if all of the kids have brown eyes, that brown eye genes are dominant over blue eye genes, then in the next generation if the brown eyed kids marry brown eyed kids with the same heritage, that 1/4 will have blue eyes, because all the kids from the first generation got one blue from mom and one brown from dad. (this example assumes that dad is brown/brown - 2 copies the same)
Moving in to medical genetics, there are well studied genes autosomal genes in some diseases where the severity of the symptoms vary. (certain types of muscular dystrophy) This is a low penetrance type genetic flaw, meaning that someone can have the gene mutation, but not get the disease, or a very mild case of the disease. (I like flaw) Other genetic disorders are autosomal dominant like Huntington's disease which has a high penetrance, meaning if your Dad shows symptoms of Huntington's in his 40s and 50s, you have to decide to get tested and if your test is positive you know that you will face the same fate. This is a high penetrance gene, meaning that everyone with the gene gets the disease equally as severe.
(Autosomal means on a non sex linked chromosome, so you can get it from mom or dad.)
The studies on breast cancer heredity and ovarian cancer heredity started by looking at families where many members of many generations had breast or ovarian CA. The statistical studies showed that it acted like a high penetrance autosomal dominant gene. The DNA studies in these families allowed scientists to start finding the BRCA1 and BRCA2 gene mutations. It is a bit harder to make inferences about exactly how the heredity works with regard to penetrance because the mutations don't cause cancer, just impair one's ability to fight the cell level mutations that happen all the time. So there is a baseline rate of breast CA that everyone is at risk for and the heightened rate that gene mutation carriers have. The crux of the penetrance issue is whether everyone with a gene mutation is at the same high risk as everyone else or not.
That gets to penetrance.
This is where I stopped learning about this stuff in school and from my research about my mom. As the gene was identified, the hope was that there was a variable penetrance to the gene mutations, meaning that the folks with the families where lots of people got cancer had the same mutation of unsuspecting people out in the world, but that their mutation caused worse problems for some reason. I was really hanging my hat on this possibility.
So, the scientists went back to the same type of families and studied whether they had mutations, and when they studied other people who had the mutations, but did not have the same family history. Unfortunately, they found that the people in the previously known high risk families where there were known mutations were the ones getting cancer, and the ones who did not, did not have the genes. (50% loophole) They also found that the people without previously known high risk families who had the gene mutations got cancer just like the high risk families(slightly lower percentages 75% BC risk vs. 85% BC risk for the high risk families).
Hence high penetrance and that loophole does not actually exist. The other thing that makes this all so complicated is that not all of the high risk families have BRCA1 or BRCA2 mutations that we know about, so we can assume that there are other genes somewhere that control hereditary breast and ovarian cancer syndromes, in addition to the fact that they are finding different mutations all the time, and that new mutations can crop up spontaneously. This is why a positive gene test is usually considered to make someone high risk, but a negative test is only useful in a known high risk family if the affected members of the previous generations test positive and you test negative. Sorry for the very long winded answer. Very complicated stuff.
Challenge from another site member, stolen verbatim 2/25/2007, 8:15 pm Great explanations, But I would also add, that as it says on this website, there is still debate about the penetrance rates for any individual because there are so many different mutations (literally hundreds) and it is likely that they do not all behave exactly alike. That is why you will find different risk rates quoted - different studies have shown different results. There are also probably other factors and maybe other genes that influence the penetrance in certain families. We really don't know enough yet to give any individual risk rates with great accuracy. Even in what appear to be the highest risk families there are individuals who are known to carry the gene and have never had cancer.
I argued long and hard about some of this with my geneticist (she is a colleague and friend - so that helps) who was trying to convince me that my risk was in fact lower than what I imagined - she was quoting standard BRCA2 risks from the most recent community based studies which are significantly lower than the original risks that were devised from studies on only very high risk (high penetrance) families. I was using my family as a guide (virtually no woman has survived it yet in my family). I agreed with her explanations but could not accept them for me. In the end I decided that really no geneticist was able to accurately tell me my risk at this point in time and whatever my risk is, it is high enough that my decisions would be the same whether my penetrance was 45% or 85%. Understanding these risks is not an easy or straightforward matter. Worth going over again with geneticists or genetic counselors - several times if you need to!
My response 2/25/2007, 10:48 pm
I agree completely. Despite strong motivation, I could not find enough specific to the mutation my family carries to make me feel confident of exactly where my risk lies. Reading the site, I can hear several types of stories, from women with the same classes of mutations. There is much more research to do. Hopefully, as all of the women on the Force web site(and others getting tested and taking action) are taking our futures into our hands, we will change the shape of this syndrome. (unfortunately making it even harder to study.)
This is an edited copy of some explanations about BRCA gene mutations from the FORCE site.
BRCA1 is actually a breast and ovarian cancer preventative gene, on the 17th chromosome, which when certain mutations - abnormalities that interfere with proper gene function - occur, then the person carrying it is at high risk of developing one or both cancers.
Each person carries 2 - 17th chromosomes one from their mother's egg and one from their fathers sperm. As a person's body produces each egg and each sperm half receives one or the other chromosome. Usually a person would have one normal and one mutated gene. ( I guess most people not surfing this web site have 2 normal copies. ) So, the 50/50 chance that the offspring will get the defective gene or the normal gene, at the time of conception. The HBOC (hereditary breast and ovarian cancer syndrome) is an autosomal dominant inheritance situation, so having one defective (not sure that sounds any better than mutant) gene is necessary to cause all of the cancer risk associated with the syndrome.
(Autosomal means on a non sex linked chromosome, so you can get it from mom or dad. Dominant means that you only need on copy of the gene to have the effect)
As a carrier of a BRCA1 mutation, your daughter or son has a 50% theoretical chance of getting or not getting the gene, decided at conception, assuming her dad does not also carry a gene mutation(and that you have one normal BRCA1 gene). Nieces are only at risk if their related parent is positive for the BRCA1 gene mutation, 50 % chance, so testing of the related parent is the first step in determining their risk.
As far as manifestation of the gene mutation, this term is called penetrance, and the studies show that there is a very high penetrance, meaning high likelihood that the presence of the mutation will raise risk for causing a cancer. (this is more complicated that in normal genetics, as the mutation only interferes with body’s ability to heal cellular mutations that can cause cancer, so some carriers will never get cancer.
So the only loophole is that statistically only half the offspring should get it. Unfortunately for many of the families listed here, the stats don't always hold. In my family, for instance, I have 2 sisters, with Dad being positive for a BRCA1 mutation. So... I have a 50% chance of testing positive, and each of my sisters have a 50% chance. And that means only a 12.5% chance that all three of us are negative, and a 12.5% chance that all three of us are negative. There are a bunch of different mutations, and appear to act a little differently, so I am not confident that my avoidance of BC or OVCA until age 43, is any indicator of what my results might be.
Everything about applies equally to the BRCA2 mutations, except that it is carried on the 13th chromosome. BRCA2 mutations cause breast cancer in men, and the cancer rates for women are somewhat different.
Response to question about penetrance and risk:
You raise a very good question, and point out interesting issues about BRCA and hereditary breast and ovca(ovarian cancer) statistics. It would be wonderful if your hypothesis(that the same mutation carries lower risk in families without high incidence of cancer) was true, but it is not, as far as my reading indicates. Below is a long winded explanation.
****Keep in mind that this is a very complex syndrome with a lot of variables, so not everything applies to every person finding this message board.****
*****I will be going to a genetics counselor whether or not my test is positive, to have someone professional re-assess my specific situation.*****
What we know about genetics comes initially from observing non - pathologic traits, over several generations, by observation. Mendel studied peas, human geneticists studied eye color, hair color, whether you can roll your tongue, whether you can taste sour things, blood type etc. In these areas, penetrance is very high, and it is easy to see how the genes behave because you can look at them and see that if mom has blue eyes and dad has brown eyes, that if all of the kids have brown eyes, that brown eye genes are dominant over blue eye genes, then in the next generation if the brown eyed kids marry brown eyed kids with the same heritage, that 1/4 will have blue eyes, because all the kids from the first generation got one blue from mom and one brown from dad. (this example assumes that dad is brown/brown - 2 copies the same)
Moving in to medical genetics, there are well studied genes autosomal genes in some diseases where the severity of the symptoms vary. (certain types of muscular dystrophy) This is a low penetrance type genetic flaw, meaning that someone can have the gene mutation, but not get the disease, or a very mild case of the disease. (I like flaw) Other genetic disorders are autosomal dominant like Huntington's disease which has a high penetrance, meaning if your Dad shows symptoms of Huntington's in his 40s and 50s, you have to decide to get tested and if your test is positive you know that you will face the same fate. This is a high penetrance gene, meaning that everyone with the gene gets the disease equally as severe.
(Autosomal means on a non sex linked chromosome, so you can get it from mom or dad.)
The studies on breast cancer heredity and ovarian cancer heredity started by looking at families where many members of many generations had breast or ovarian CA. The statistical studies showed that it acted like a high penetrance autosomal dominant gene. The DNA studies in these families allowed scientists to start finding the BRCA1 and BRCA2 gene mutations. It is a bit harder to make inferences about exactly how the heredity works with regard to penetrance because the mutations don't cause cancer, just impair one's ability to fight the cell level mutations that happen all the time. So there is a baseline rate of breast CA that everyone is at risk for and the heightened rate that gene mutation carriers have. The crux of the penetrance issue is whether everyone with a gene mutation is at the same high risk as everyone else or not.
That gets to penetrance.
This is where I stopped learning about this stuff in school and from my research about my mom. As the gene was identified, the hope was that there was a variable penetrance to the gene mutations, meaning that the folks with the families where lots of people got cancer had the same mutation of unsuspecting people out in the world, but that their mutation caused worse problems for some reason. I was really hanging my hat on this possibility.
So, the scientists went back to the same type of families and studied whether they had mutations, and when they studied other people who had the mutations, but did not have the same family history. Unfortunately, they found that the people in the previously known high risk families where there were known mutations were the ones getting cancer, and the ones who did not, did not have the genes. (50% loophole) They also found that the people without previously known high risk families who had the gene mutations got cancer just like the high risk families(slightly lower percentages 75% BC risk vs. 85% BC risk for the high risk families).
Hence high penetrance and that loophole does not actually exist. The other thing that makes this all so complicated is that not all of the high risk families have BRCA1 or BRCA2 mutations that we know about, so we can assume that there are other genes somewhere that control hereditary breast and ovarian cancer syndromes, in addition to the fact that they are finding different mutations all the time, and that new mutations can crop up spontaneously. This is why a positive gene test is usually considered to make someone high risk, but a negative test is only useful in a known high risk family if the affected members of the previous generations test positive and you test negative. Sorry for the very long winded answer. Very complicated stuff.
Challenge from another site member, stolen verbatim 2/25/2007, 8:15 pm Great explanations, But I would also add, that as it says on this website, there is still debate about the penetrance rates for any individual because there are so many different mutations (literally hundreds) and it is likely that they do not all behave exactly alike. That is why you will find different risk rates quoted - different studies have shown different results. There are also probably other factors and maybe other genes that influence the penetrance in certain families. We really don't know enough yet to give any individual risk rates with great accuracy. Even in what appear to be the highest risk families there are individuals who are known to carry the gene and have never had cancer.
I argued long and hard about some of this with my geneticist (she is a colleague and friend - so that helps) who was trying to convince me that my risk was in fact lower than what I imagined - she was quoting standard BRCA2 risks from the most recent community based studies which are significantly lower than the original risks that were devised from studies on only very high risk (high penetrance) families. I was using my family as a guide (virtually no woman has survived it yet in my family). I agreed with her explanations but could not accept them for me. In the end I decided that really no geneticist was able to accurately tell me my risk at this point in time and whatever my risk is, it is high enough that my decisions would be the same whether my penetrance was 45% or 85%. Understanding these risks is not an easy or straightforward matter. Worth going over again with geneticists or genetic counselors - several times if you need to!
My response 2/25/2007, 10:48 pm
I agree completely. Despite strong motivation, I could not find enough specific to the mutation my family carries to make me feel confident of exactly where my risk lies. Reading the site, I can hear several types of stories, from women with the same classes of mutations. There is much more research to do. Hopefully, as all of the women on the Force web site(and others getting tested and taking action) are taking our futures into our hands, we will change the shape of this syndrome. (unfortunately making it even harder to study.)
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