I just got back from my first screening appointment at the cancer clinic. Today has been my litmus test to how well I can handle walking into the cancer clinic and wait for a doctor to give me a professional assessment of my health.

I got this appointment earlier than expected because someone else cancelled. And apparently the nurse saw where I lived and thought there would be a good chance I could make it on short-notice: I live only a few blocks from the massive hospital complex in the city. I find it ironic living next to the hospital and major research clinics. Seems like such a great convenience, but wouldn’t you rather not have to make much use of their services at all? When I first moved here, I didn’t really expect that I was going to find myself on a 6-month rolling appointment schedule with them. But anyways, I am not going complain about the 5-minute bike ride.

Honestly, walking into the cancer clinic was a little nerve-racking. The building is one of those slightly outdated massive concrete structures where walking into the lobby is like walking into the bowels of a prison. I pulled up my bike and felt acutely self-conscious. I didn’t look anything like their typical patient and it seemed embarrassingly obvious. I picked up a new patient form at the main desk and had to answer questions like whether I was currently living in a nursing home. The doctor seemed amused at the fact I was given that form, which lessened my anxiety a little bit. The nurse running the clinic also acknowledged that patients often feel a little out of place coming to screening appointments in the cancer clinic.

But watching the scenes of elderly being pushed around in gurneys and family members with personal effects in tow, made me realize that I do belong here. Cancer has already been part of my life because of my family. Not that I have done a lot of running around in hospitals, but I did think back to the few times I accompanied my mother to her cancer clinic. And I must say her clinic is a lot more welcoming. It is a newer building with open windows everywhere and an open layout. The chemo infusion room even has wall to wall windows looking out on a private water garden. The only window I saw in my building was in the exam room, which of course had the blinds pulled tight.

This appointment was simply a clinical breast exam and an introduction to the screening process. It was fairly low-stress, although I never feel comfortable around doctors. I got confirmation about my eligibility for MRI screening which was a relief. I have come to believe that mammograms really will not be much use for me. The cancer that struck both my mother and aunt was lobular and was not easily detected on mammograms. Not to mention my youth and small breasts decreases the effectiveness of mammograms for early detection. But when I asked whether the screening procedures are ever changed for circumstances like this, the answer was no.

I was also reminded several times that the clinic advised women to remove their ovaries around age 40. That seems reasonable on the surface, but I couldn’t help but wonder quietly “even for BRCA1 carriers who have higher risk for ovarian cancer at younger ages?” and “even for BRCA2 carriers like me who are not in the Ovarian Cancer Cluster Region and have no family history of it?” And this made me a little frustrated. Medical care to me feels like fast-food. There is an immense amount of medical research done with results full of various subtleties. But all of this research gets distilled, simplified, analyzed for cost-effectiveness, and packaged to patients as a one-size “standard of care.”

Now I know I might be coming off as ungrateful considering that genetic testing is a prime example of how medical treatment is becoming more personalized. And I will definitely admit that I tend to hold things up to terribly high—maybe unattainable—standards. But isn’t that only natural when it’s your own body and health? On the other hand, I do have sympathy for health care providers who have to face people that want doctors to move mountains for them everyday. I don’t really expect to be privileged (or rich enough?) to receive only the most state-of-the-art care at all times. I guess I just get the impression that other people feel a sense of relief having a medical expert “take care of them,” but I don’t feel that. I get about as much comfort from the experience as I do with taking my car to a mechanic I found in the yellow pages (back when I used to have a car).

So all in all, I guess I passed my litmus test. I wasn’t terribly worried going into the appointment and I don’t feel terribly different after it. Meanwhile, I think I need to find a dentist to take some wires out of my mouth before I can get my MRI.

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When to test

20May10

I am still thinking about when to test. I had a conversation the other day with my mother. I told her that the chances of ever getting a response on the genetic discrimination question seem slim. But I also acknowledged that it seemed unlikely my fear of genetic discrimination on an immigration application would really be realized. She agreed and asked me why I am not getting tested right now then. I hemmed and hawed about it not being a good time. “But there is never a good time,” she said. She urged me to test as soon as possible and told me her regret at not doing it herself. It was sound advice. It was actually what I wanted to hear too. I wanted someone to try and push me a little.

But I haven’t made any phone calls since then. And I am still not planning to make any calls. Although I really understand what my mother is saying, I still feel this is not a good time. I feel too emotionally weak right now. Not necessarily because of what my mother is going through (if anything seeing her strength inspires me). I think it is mostly due to my current work situation. I am at the end of one job, trying to find another. And my job search is not going at all like I expected. It’s really trying on my self-esteem, in fact.

I feel strange to give this as my reason. Like it’s a petty excuse. Or maybe I just feel uncomfortable to acknowledge my weakness. My emotional health is one my weaknesses. I have gone through depression and anxiety issues in the past. I used to believe I was a sort of superhuman who could take on anything. But going through those times has made me realize that I am not superhuman. Sometimes I really have to cut myself some slack.

My worry is that finding out I have the mutation while I already having low self-esteem from this job hunt would be just too much for me to handle. So the alternative is to wait, until I feel like I am in better shape mentally to cope with the possible bad news. I don’t believe that there is much harm in waiting a little longer. If I was to test positive, I wouldn’t make any plans for surgery right away. I think—unless screening results suggest otherwise—that I would wait at least until I was 35 before I seriously consider any of the preventive surgeries. So I don’t think a few months will make much impact on my physical health, but it may make a big difference in my mental health.

As I was writing this blog post, I coincidently got a phone call from the screening clinic. It turns out they can get in my earlier than expected. I will have my first appointment next week. So I think this helps me rest easier. Not testing does not mean I am sticking my head in the sand. I can still be proactive. I admit, however, that I deliberately prolonging wishful thinking. Is this bad? I am actually somewhat curious what people who have been there think about this plan. Did you wait on testing? Did you wish you had? Did you wish you hadn’t?


I haven’t had much to share lately. I did follow up with the genetic counselor like I promised. I was disappointed to find out that she really did just forget about me. And I guess out of her guilt upon receiving my voice mail, she continued to ignore me until I found someone else at the centre to track her down. So I was doubly disappointed at her lack of professionalism.

She did confirmed that I am on the waiting list for the high-risk clinic. I may get scheduled for summer or later. But I have ran across some notes that I may not be eligible for MRIs because I have not tested positive for a BRCA mutation. That makes me really rethink testing. I have seen more and more reports coming out that mammograms really don’t help in early detection for young women and especially those with dense breasts. I fit into the first category and I am just guessing I would fall into the second one too, because of my small breast size. If that wasn’t enough, there are also reports that young women with BRCA increase their risk of cancer when getting mammograms. So is screening right now even worth it?

Well to answer that I have to return to the big question I had for the counselor: how could genetic testing affect an immigration application to Canada? Her response was that no one in the centre has faced this question before. They must put in a request to an outside resource to answer this and they have to get approval first to do so. And she is still waiting for approval. I asked for a time estimate and she couldn’t give me anything except that we’re talking at least months (if not years?!). I don’t have much faith in her anymore because of her poor communication with me. I’ve looked at the laws myself and it would seem that it *should* be a non-issue. It’s clearly not a public threat (yes, good news: cancer is not contagious!), it is only a risk and not a medical condition, and the suggested screening is not much of a drain on medical resources compared to other the other diseases out there. Oh, and one more thing: Canada is equipped with the necessary medical resources to manage the screening (and the cancer, if it was to manifest).

So maybe I should just put peace of mind and screening effectiveness above my fears of genetic discrimination? Maybe I just fight that genetic discrimination battle if it happens (surely there would be lawyers out there excited over a case like this)?

So, for goodness sakes, what is stopping me from running and skipping to the centre to get tested? I have waited this long already. I feel (relatively) calm and collected about the matter. And I was swearing up and down four months ago that I really wanted to get tested. I should be ready, right?

Um….actually, maybe not. What if it is positive? Am I ready to go through all the shock and trauma, again? The first time hearing about BRCA in my family hit me hard. I doubt that the second time is going to be easy, because this time it’s about me.

In fact, what is motivating me to write tonight is not really a spur-of-the-moment insight. It’s because I got a phone call from my mother today. She’s a week and half out of her mastectomy. The pathology report is back and it’s not as good as we were hoping. Although the margins were clean, the lymph node involvement was extensive and her cancer did not respond well to the chemotherapy.

I know my mother didn’t want to dwell on the negatives and what if’s of the report. She told me specifically she doesn’t want to make the news into doom and gloom. She doesn’t plan on telling others the detailed results. She wants to focus on the upside of things. But she’s feeling down today about it. And so am I.

Today has been like re-living the day that she first told me she had cancer. I can’t help but cry after hanging up the phone. I’ve lost something today, and no “looking on the bright side” can help bring that back. Yes, she could beat this disease yet, but it still doesn’t erase what has already happened.

I know news like this makes people itch to say something positive. But right now I can’t really stand to hear it. I want a moment of honesty. The likelihood of my mother being cured of cancer is not so good. And that is how it is. There is not much else I can think of to say right now.


Yesterday the topic of my breasts came up between my girlfriend and I. She had just seen an artwork which included a collage of women’s breasts in plaster of Paris. She told me it made her think of me and mastectomies. I was taken back a little. The way she described the artwork, it didn’t conjure up any of these images for me. I saw it as a piece talking about privacy and exhibitionism. There was a little heated debate over these different interpretations. It cooled down some when I accepted the fact that my issues with BRCA are also weighing heavily on her mind. So naturally it comes to her mind when she sees these images.

My girlfriend shifted the topic slightly. She brought up a story of people holding ceremonies to grieve a loss of their body. I was a little taken aback. “You’re talking about holding a funeral for my breasts if I cut them off?!” I acknowledged that I have heard about it before but I could never imagine myself doing it. Right now (things may change later), if I have a mastectomy I don’t want reconstruction and I don’t want to feel I am losing anything. I rather view the surgery as a transformation. I’d like to think my post-surgery body would simply be a new shape for me which I would learn to accept just as I have with my current body.

She protested, “But your breasts are part of you!” I reminded her of a joke she showed me before: academics think of their bodies as a vehicle for transporting their head. To me that’s not really a joke, it’s seem quite true for me as well. I think everything interesting about myself is the product of neurons firing in my brain. Everything else is just practical function.

I looked at her reactions to what I was saying. She didn’t seem very comforted by my way of thinking. I asked her, “So you want to have a funeral for them, even if I don’t want?” She nodded, “Yeah, there should be a day to commemorate it like St. Patrick’s Day!” (We’ve never celebrated that holiday, by the way. That’s part of her humor that I love so much.)

I never assumed that my girlfriend would be oblivious to my BRCA issues. But I am a little taken aback to realize just how much it affects her. Much earlier when the topic of preventive surgeries first came up, she was clearly afraid of it and didn’t want to think about it. I remember one of her first comments quite well: “But that would make you a man!” I have to smile a little bit about this line. It makes me imagine conservatives out there who feel their prayers are being answered. Imagine how they would frame the headlines: “Lesbian couple becomes straight due to God’s will.” Seriously though, it seems a lot straight people in society do not appreciate that lesbian identity is as near and dear to us as their straight identity is to them. And indeed, a radical change in my body does have implications for my girlfriend both socially and personally.


I feel my “BRCA vacation” is coming to an end. I haven’t heard a word from my genetics counselor and I feel I must take action. Odd that she really impressed me at our meeting, but she’s completely dropped the ball since then. She had several tasks that she was going to follow up with me on. She even told me she would be contacting “by the end of next week.” She said that two months ago. I’m wondering if my file just got completely forgotten.

I feel I ought to be dismayed about this, but I’m not really. I am in a sort of delusion that “no news is good news.” Really, in some ways, in the last two months it felt like I had never heard of BRCA. And now I feel like I am coming to terms with it all again from the beginning. On the phone with my grandmother, we were talking about her treatment, my mom’s treatment, my aunt’s treatment, my first cousin’s decisions on testing, my cousin once removed’s test result, my grandmother’s intuition all her life that cancer for her was inevitable… I realized at that moment I have been in some denial of late.

BRCA for me has been a roller-coaster of emotions. And I have never thought of myself as an emotional person. I guess to be fair, it did come quite sudden on me. Up until last year, I only knew of one woman in my family who died of cancer. I thought it was an unfortunate exception. Then in a matter of months—all in separate incidents—I found out my grandmother has breast cancer, and my mother has breast cancer, and this is not my grandmother’s first diagnosis, and there’s a genetic mutation which can significantly increase the risk of breast cancer, and my mother and grandmother both have the mutation, and I may have it too. I guess that might qualify as a “traumatic” time. I find myself looking back at the last few months now, and realizing that I have just gone through a turning point in my life.

So the irony is that my initial response in hearing BRCA was to research it like mad. I spent literally all day and all night reading everything I could. I started out with an open mind to preventive surgeries. I immediately appreciated the gravity of the risk statistics. Then found myself dreading the idea of an oophorectomy, although willing to embrace a non-reconstruction mastectomy. And then I found myself thinking that life is all about risk and eventually death, so perhaps there was nothing to think about after all. And all of this occurred before even drawing my blood for the actual test. Then after this whirlwind of researching, emotions, and hypothetical decisions, I finally went back to so-called stage one: denial.

I suppose in some sense, it hasn’t been complete denial. Besides the initial trauma of all this information in such a short time, I have been struggling with philosophical angst. I am not a religious person. And BRCA has made some of those big questions of life much more immediate to me. But I don’t have a guidebook to follow, so I guess it takes me more time to make sense of this. I’m also a thinking-type of person. I’m in the midst of a career change too, and so I naturally spend a lot of time wondering what I am doing with my life. (Thank god my girlfriend is more of a doer and not like me too, otherwise nothing would get done in our house.)

Well, anyways, I ready to start—with a little more trepidation—-facing BRCA again. I am going to write an email to the genetic counselor, really. I am going to make sure I get a screening appointment regardless if I do testing now or later. And I’m going to continue to ponder those philosophical life questions.


Everything else

05Mar10

This blog has gotten neglected the last few weeks. Life has gotten the better of me. Since my genetic counselling appointment, I unconsciously took a “BRCA break.” For the first time since hearing about BRCA, I stopped thinking about it all the time. I had several days where it was the last thing on my mind. And honestly, I was very happy to not think about it.

So that’s one reason I took a hiatus from the blog. Work also caught up with me and I worked like a dog through most of February. I work at home, my own hours, and no commute. But literally, I have been waking up, working until I can’t keep my eyes open, sleep, and then do it all over again the next day. I have been enjoying it to some extent too. I made a lot of progress on the project and that felt rewarding. Made up for those depressing days of December.

Then sometime around the end of February, a fire broke out in my apartment building. Stood out on the street in my slippers with my cat and my laptop wondering if we were about to lose everything. Luckily we live close to the fire station and they got it under control quickly. Luckily I wasn’t in any of the apartments below the fire where the water dripped everywhere. My place was miraculously completely unaffected. I went back to work shortly afterwards.

Then the first of the month rolled around and I got a letter from the landlord saying the building has been deemed unsafe and everyone must leave immediately. My neighbor across the hall alerted me to it. He’s been living for years and was in shock. We talked for a good hour or more. We both were suspicious of the letter. Why wasn’t the city giving us this notice? Where was the report? All we had was the landlord’s personal stationary. In the next three days we and all the remaining tenants begun a full-scale investigation into the matter. Talked to city officials, tenancy office, advocacy agencies, contractors, fire officials, etc. Found out that the letter was completely bogus. But our situation is nevertheless not resolved as we seen plenty of evidence the landlord intends to renovate the whole building and kick us out in the process. Although we know legally we can continue to stay, my girlfriend and I have been vacillating every hour whether to stay and fight it out or just leave before things get worse.

Today we finally decided we should take an apartment that we found nearby. But before I could write the message, I got the email from the woman that she had already rented out the place. I thought it was a near sure-thing: that she liked us and we liked her. I keep wondering where I went wrong.

My work has gone back to a near stand-still the last couple of days. I can hardly concentrate, I am not sleeping well. I feel so utterly downtrodden right now. My girlfriend and I have been having long discussions about race, class, and inequality. We are both outsiders to Canada but different types. I thought that our mixed background—me being a white American and her being Chinese—would fit very well in this multicultural, liberal city. But instead, I get the feeling we make a lot of people uncomfortable. Perhaps not exactly because of race or being lesbian. They don’t know how to categorize or relate to us, and we end up often just getting ignored.

I guess this blog post seems to have nothing to do with BRCA. But I wanted to post nevertheless. It’s a reminder to myself that BRCA is just but one part of my life. As much as I have wanted to cry foul and ask why do I have to deal with this? I try to remember that there is a lot of shit we have to deal with in life. It’s just like that. And perhaps this is a good time to put a shout out to Janine and mymutantlife. Been reading about their intersections of “all the other shit in life” with BRCA and am impressed by their good attitudes. Thanks for the inspiration!

UPDATE: Twelve hours I wrote this, I got a call from the manager of the new place we looked at and wanted. She said the first person fell through and we could have it if we wanted. I feel a little sheepish for bemoaning about my circumstances when it’s not all bad. My girlfriend reminded how much worse things would be if we were one of the ones who lost our things in the fire as well and had to move out that night! Yes, I’m feeling a little more upbeat now.


Discrimination

26Jan10

I had my genetic counselling appointment today… and I didn’t get tested.

I have to admit I was a little shocked at myself. For weeks, all I have been thinking about is getting tested to see if I have the BRCA2 mutation that my mother carries. I have wrote several posts on this post extolling the importance of testing and why I want to do it. So why on earth did I not ask to sign the consent form today?

Well, after taking some time to think through things these last couple weeks, I realized that there really is a significant reason why I might not want to get tested right now: genetic discrimination. And in particular, I am concerned about what impact this information could have on my potential immigration application to Canada. I have been thinking about immigrating to Canada for some time. Ever since I met my girlfriend ten years ago. At that time, I was living in the States and she was in Hong Kong. And there was no practical way that she could come to the U.S. because U.S. immigration law doesn’t recognize same-sex couples. (Well, not for American citizens at least. Funnily enough, if you are not an American citizen and have a valid work visa in the U.S., you can sponsor your same-sex partner. Always nice to know that your own country gives more rights to non-citizens than yourself.) So I went to Hong Kong. Hong Kong has a much easier visa and immigration system to work with so it was really quite easy for me to go there. But there was still no legal protections for my girlfriend and I there. I often went into long spiels with my girlfriend about the importance of legal protections and how we should find a place where we can live in place where we have equal rights (which she found very boring). But I really didn’t have to convince her to move, because she has always dreamt of going to school overseas anyways. So we have ended up in Canada. And we’re testing out this new life of equal rights… almost. I never expected when I arrived in Canada that I would end up worrying genetic discrimination, but here I am.

My genetic counsellor admitted that she didn’t know about the impact of genetic testing on Canadian immigration laws. So she is going to do some research for me and get back to me. Meanwhile, I have held off on genetic testing.

Actually, I am through a whole new round of emotions surrounding BRCA. After finding that I have significant personal reservations about doing some risk-reducing surgeries like oophorectomy, I have begun to wonder if I would really consider doing a mastectomy either. I have imagined the scenario of testing positive and not doing any preventive surgeries, only surveillance. “Waiting for cancer” some might say. Isn’t it a crazy idea? Part of me feels it isn’t.

I can’t fully explain my new feelings yet. And I am not saying that I making up my mind on anything. I am just thinking about things from a different perspective than before. Maybe it’s easier to understand if I share some questions that I am thinking about: What battles for survival are worth fighting for? What makes me think that I am entitled to the equal chance of living as long as the other person? How much, really, should I fear cancer?


I met with my genetic counsellor today and below are the answers to the questions I posted previously:

What type of genetic discrimination may I face if I am positive?
Testing positive may cause me to denied for private health, life, or mortgage insurance. These types of insurance often require health questionnaires and request access to health records. Although I could try to lie on the questionnaires, the companies may still find a reference to my genetic status in doctor’s records. And that would mean denial or voiding of my policy. However, group health plans by many employers in Canada do not require health screens. And the my public health care plan in Canada definitely is not affected by my genetic status.

Is there legal protection against genetic discrimination in Canada?
No, there are no laws or significant legal precedents regarding genetic discrimination in Canada. Although the U.S. enacted a law prohibiting genetic discrimination for health care in 2009, there is no similar law in Canada. And there are no expectations that there will be one soon, since there is little public pressure for such a law.

Could the results of my test affect my ability to immigrate or get sponsored for a work visa in Canada?
Still don’t know the answer this question. The counsellor is helping me check on this issue and I should have more info next week.

Is there any way to ensure my test results are not accessible to others?
The records of the cancer agency are strictly confidential. If any one requests access to my file, I must give explicit consent first. Even if it is my own family member.

Is it fair to assume that the risk of ovarian cancer for our family mutation is at the low end of the spectrum due to the lack of family history and position in the BRCA2 gene?
Yes, the lack of family history and position of the mutation indicates my risk of ovarian cancer is probably at the low end. But neither factor provides enough evidence for a definitive risk assessment. There are families that have no previous history of ovarian cancer… until it hits the current generation. Also, there is still a lack of consensus on whether an Ovarian Cancer Cluster Region really exists in BRCA2.

Is it fair to assume the risk of breast cancer is at the high end of the spectrum for the aforementioned reasons?
The lack of very early-onset cases of breast cancer in my immediate family actually suggest my risk of breast cancer may not necessarily be at the high end. Most of the women in my family had peri-menopausal cancer and this bodes well for my risk. (Actually, I am still sceptical on this. Perhaps I don’t need to worry too much about very early-onset but the penetration of breast cancer in our family seems really high.)

If I test true negative (since my mother is positive), will I indeed be considered normal risk?
Yes, this is the position of the cancer agency and current research.

What are the screening recommendations for women of normal risk?
Free screening mammograms are available for women 40 to 79 in the province.

What other cancers are we at risk of?
BRCA2 mutations are linked to a significant increased risk of breast, ovarian, and (to a lesser extent) prostate cancer. It has also been correlated with an slightly increased risk of melanoma, and the cancer agency recommends skin exams for fair-skinned people. Colorectal and other gastric cancers were once thought to be correlated with BRCA2 mutations, but recent research suggests the risk is the same as the general population.

How long will it take to get the results?
Carrier testing (i.e. testing for a mutation that has already been identified in the family) takes 2-6 weeks.

Who conducts the test?
The testing is done in the cancer agency’s own lab within the province. Testing of a new case is always done with a sample from a known mutation carrier of the same type. This helps reduce the risk of a false negative.

Are there clinical studies for screening/preventive studies that I can take part in?
There are no local research studies for screening as there is already a screening clinic for high-risk patients. Screening procedures for women include a yearly MRI and mammogram (alternating every 6 months). There is no screening for ovarian cancer as it was found to be ineffective at early-detection. Furthermore, I am immediately eligible for these screening procedures whether or not I go through with genetic testing, since my 50% chance of carrying the BRCA2 mutation already makes me “high-risk.”

Since my family has a large amount of genealogical data and our mutation is relatively rare, would our case be of any particular use or interest to researchers?
Yes it may, but I will need to consider privacy issues with sharing this data. I will be getting contact information shortly for researchers in Toronto who work on genetics and epidemiology.

Are there any local support groups for BRCA+ women?
Currently there is none, but I have added my name to the list of interested people.


This last weekend I decided to go visit my family. During Christmas time, my grandmother and I found out that we have a shared interest in family history. So I made good on my promise to visit her and help her go through the large stack of papers she has. Although she has gone so far to visit our family’s homeland in Norway for family history information, she doesn’t use computers (let alone the Internet!). With my computer-saaviness in the mix, we have made a lot of progress on our records. And I have also found out that family history research in Norway is a genealogist’s dream come true, because the government has more than 500 years of documents online at freely accessible at the Digital Archives of Norway (Digitalarkivet).

I have even found new leads in hunting down the BRCA2 gene mutation in our family. Since gathering cancer information from the cousins, we have already determined that it was likely my maternal great-grandfather who carried the mutation. But since discovering the parish records in the Digitalarkivet, I found my great-grandfather’s paternal uncle died relatively early of cancer in 1905. I couldn’t believe that I could find a cause of death so easily. That means, it was likely my great-great-grandfather who carried the mutation. Is that enough “great’s” yet? Am I satisfied that I have found the origin? Not particularly. With now 17 generations of family history from myself, I still would like to know more.

Genealogy is a bit addictive for some people, if you haven’t noticed. I still would like to know if our mutation is a relatively new development that has just happened to occur in several isolated families across Europe or if this is an ancient mutation that has somehow managed to survive through those earliest European migrations. For now, I assume it’s the former because it seems unlikely that this mutation could pop up in such diverse places such as Italy, Greece, Germany, Sweden, Norway and Brazil(?!) but still be related. My European history sucks, but wouldn’t that put the mutation at 7,000 – 15,000 years old? I suppose this question could also be answered by some more research on mutagenesis.

I also feel disturbed by the fact that I have so much knowledge about the specific geographic location and family names in Norway at risk from this genetic mutation, yet I can’t easily share it. My family has informed a cousin back in Norway about the genetic test results. Hopefully, the family will find this information helpful. But I know the mutation likely extends beyond those cousins. With as much family history information available, I could potentially inform many at-risk people. But these people are strangers to me. It seems quite inappropriate, to say the least, to track down complete strangers and tell them they may be at risk for a potentially fatal genetic mutation. And since we’re talking about relatively distant cousins, I have no idea just how much of a risk they are at. Besides likely coming across as a lunatic, I would also risk causing undue anxiety to many people. So of course, I am not seriously considering cold-calling people about this. But on the other hand, I wonder if there was anything I could do which could just help raise awareness for this community that if they have a cancer history in their close family they may want to consider genetic testing.

A good bit of BRCA news came out of the family history weekend though. I found out that my great-aunt did not die of a BRCA-related cancer after all. So now we doubt she was a carrier and this means that a large branch of our family is likely unaffected by the mutation. Ironically, this is the same branch of the family where some key members wanted nothing to do with genetic testing. Their religious views probably has something to do with that stance. But maybe it’s also relevant to mention that they don’t seem to have much history of cancer in that branch. My immediate family, on the other hand, has and I am sure it definitely colours our view towards genetic testing. Anyways, I am just thankful that our number of at-risk women in the family has been cut down significantly.


I just scheduled my first appointment today with the cancer agency. I will be meeting with a genetic counsellor to discuss whether I want to be tested for a mutation in the breast cancer genes. Just two weeks from today. Things are moving forward and I am taking action. It feels great! Perhaps that sounds odd to others. But that’s where I am at. I’ve thought about this issue so much in the last couple months that I am glad I will soon be able to stop wondering and just deal with the facts.

I plan to go in with a list of questions. I thought initially it may be hard to think of questions since I have done so much reading on my own. But now I realize that there are all sorts of topics that I haven’t yet read up on. I already have several questions in my mind:

  • What type of genetic discrimination may I face if I am positive? Is there legal protection against genetic discrimination in Canada? Could the results of my test affect my ability to immigrate or get sponsored for a work visa in Canada? Is there any way to ensure my test results are not accessible to others?
  • Is it fair to assume that the risk of ovarian cancer for our family mutation is at the low end of the spectrum due to the lack of family history and position in the BRCA2 gene? Is it fair to assume the risk of breast cancer is at the high end of the spectrum for the aforementioned reasons? What other cancers are we at risk of?
  • If I tested positive, what would be the recommended screening procedures and preventive measures? Will all of these be covered under the provincial health care?
  • If I test true negative (since my mother is positive), will I indeed be considered normal risk? What are the screening recommendations for women of normal risk?
  • How long will it take to get the results? Who conducts the test? Who will have access to my case details?
  • Are there clinical studies for screening/preventive studies that I can take part in? Since my family has a large amount of genealogical data and our mutation is relatively rare, would our case be of any particular use or interest to researchers?
  • Are there any local support groups for BRCA+ women? Is there psychological counselling available for me if I felt I needed it?

What are the chances that there will even be enough time to answer all these questions? I am trying not to put too much expectations on the counsellor but, I admit, I fear that she will give me vague textbook answers to everything. Anyways, I’ll keep hoping that she a bit of a geek like me and will be excited to see a client so involved in the process.

So this is my initial list. Anyone else have ideas to add?