Tuesday, November 26, 2013

How Genealogy Saved (or Significantly Changed) My Life

I've been quiet on my blog recently.  I've been a bit preoccupied with some other things that I'll explain below--all of which started with my genealogy addiction.

I wrote earlier how I found another whole branch of my family via DNA testing.  This was so exciting that I decided to test with the other large companies in case other lost cousins had tested with those.  One of those companies, 23AndMe, offered health information in addition to identifying potential cousins.  I viewed the health benefits as a side feature, but I checked my account daily to see if my results were back and if there would be more clues to help with my genealogy search.

And then the results came.  And my life changed forever.

The initial traits I looked at were innocuous.  I have a very slightly higher chance than average of glaucoma and a slightly lower chance than average of macular degeneration.  I have blue eyes.

Then there were "locked" reports.  The first was related to breast cancer risk.  I thought, "Well, we don't have that in my family!"  I opened it and was shocked.

23AndMe seemed to think that I had a BRCA2 (6174delT) mutation.  A quick google search showed that this is associated with a much higher than average probability of developing breast, ovarian, pancreatic, and prostate cancers, as well as melanoma.  I quickly panicked and then called my doctor the next morning.  After a flurry of tests (including one confirming that I actually did have this mutation), I was told everything looked clear--but that there was one last test I should take, an MRI.

The MRI saw something suspicious, but the doctor said not to worry, since less than 20% of suspicious things on MRI were anything to worry about.  I then had an MRI-guided biopsy (and was told that they thought all was benign, but that they were going to check for sure).  During the biopsy, the radiologist saw another small area that hadn't been called out on the first radiology report and decided to sample it as well.

Two days later, I was told that I had breast cancer.  It was caught extremely early--the whole tumor was 4 mm--and it was the small area that wasn't even supposed to be biopsied.  Had I not been genealogy-obsessed, I never would have taken this test and never would have known that I had a mutated BRCA2 gene--and then I would not have had that MRI.  (I'm not old enough to have a mammogram under normal circumstances, but the mammogram I had soon after getting the 23AndMe results was entirely clear.)  This wouldn't have been caught for years--during which the tumor would have continued to grow--and there could have been a very different ending to this story.

So here's my pitch to everyone--get obsessed with genealogy.  It could save your life.

9 comments:

  1. I'm sure you've seen the news about the FDA and 23AndMe (see the Legal Genealogist for a good explanation) and I'm glad you followed up with your doctor. Glad to hear everything worked out - that you caught the cancer early! Happy Thanksgiving, you certainly have your genealogy to be thankful for!

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  2. This is exactly how the medical portions of 23andme tests are supposed to work. Get a result, call your doctor, follow through from there. Excellent news.

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  3. A tremendously important lesson for all of us. I hadn`t been tested by 23andme, but your story is pretty convincing that perhaps I should. I have been thinking about you and praying for you since I learned of the results. This story is great news and I am relieved and thrilled that it has worked out so well for you. Hugs.

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  4. Absolutely amazing! So glad it was caught early.

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  5. Wow! It is wonderful that this test does work with the medical information. Good for you for following up with a doctor so quickly. I am so glad everything worked out for you.

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  6. Clearly there are some definite health benefits to be gained from Genalogy,as well as more information about your ancestors,and ethnic deescent.Thank dear GOD you really out very,very early.

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  7. Thank you so much for sharing. I think I will look into taking this test. It wasn't available when I talked a cousin into doing the Y-DNA thing for me. And my obsession with genealogy and finding the cause of death for several ancestors has helped me learn that we have cancer in our family to a much greater degree than previously thought. Heart disease I knew about!.

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