Family History II

19Jan10

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.

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4 Responses to “Family History II”

  1. 1 Moxie

    I totally understand your struggle with whether to notify your family and wanted to share my story with you: My mom is adopted and has met her birth family, but is not in close or regular contact with them (her birth mother actually passed away about two years ago). She received a letter last spring from her cousin notifying her of the positive BRCA2 status in the family. As a result, I got tested, and I am positive. My mom then got tested (she had already had breast cancer), and was, of course, also positive. I just had my pbm about two weeks ago, and my mom is scheduled for her ooph and pbm within the next two months.

    I had never met the woman who sent that letter, but I am so thankful that she sent it. Because of my mother’s adoption, we didn’t know the family history. I am so, so grateful to this woman for including my mother in the list of people she sent those letters to. While it sucked to receive the news, I feel like she quite literally could have saved my life.

    I just wanted to share my story since you’re kind of in the same boat. The only thing we received was the form letter from Myriad with the type of mutation and a form letter from (I’m assuming) her genetic counselor. It was up to us from there to do our own research and decide if we wanted to be tested, or not.

    That knowledge that I carry the BRCA mutation has been a gift. One that could potentially have saved my life.

    • Thanks for sharing this incredibly touching story. It encourages me that many people would be grateful for this information rather than resentful!

  2. You’re asking some tough questions, but necessary ones. It’s important to explore your family history in order to stay on top of your health. What advice would you give to other women struggling to decide whether to get genetic testing or not?

    • I have answers to the questions (from my genetic counsellor) now too. I think some of my advice about testing can be gleaned from my previous posts like A Benefit of Testing and more recently, Discrimination . But if my advice seems complex and somewhat contradictory, it’s because it is. The more I think about things, the more I realize the subtleties of the issue. And I think I am learning right now that taking time in making this decision can definitely be a good thing.


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