Monday, June 3, 2013

Health and Genetics Meets Genealogy

dna double helix
DNA Double helix | Public Domain
I have to say that although it's fascinating to find civil war soldiers, knights and kings in my family tree, medical history is one of the huge pieces of information that I get from my research.  Regardless of having both parents living, most of their siblings still alive and most of their parents having lived into my teens, I have a tremendous lack of knowledge about my family health history.  As in... I never really had a family health history at all.  All of those family history forms you fill out at a doctor's office so that they know what you are at risk for... I just never had anything to put there.

My mom raised us but after about age 8, her family was relatively far flung. I wasn't raised around my father's side of the family but even once I established a relationship with my father, we stayed relatively disconnected from his family until I later reconnected with his siblings in adulthood.  Maybe that's why family health stuff isn't common knowledge in my immediate family.  It could also be a generation thing... genetics and hereditary diseases and disorders is a relatively new generation-wise, 'common knowledge' concept.  Even 10 years ago, DNA testing wasn't something the average person had access to, let alone for under $100.  It could also be a regional thing.  Health care in the south is vastly different than health care where I am now.  Whole person (holistic) care just isn't 'a thing' there.  Medical issues are tackled completely differently.  My family is Southern and their attitudes about health have definitely been shaped by Southern culture.  But, for whatever reason, here I am with no family health history to speak of.

Family health history started getting more serious for me when I was diagnosed with melanoma about a couple of years ago.  Luckily, I caught both primary sites early enough that I only needed a couple of surgeries. Because of the number of melanomas I had, my dermatologist classified it as familial melanoma, meaning that it's hereditary.  So I dutifully notified family members.  As a result, my father found a melanoma.  I found out later that his sister also had a melanoma several years ago.  So, clearly, the doctor wasn't too far off base with that assessment of familial melanoma.

Then I was diagnosed with high cholesterol.  I've changed my lifestyle and the picture looks optimistic.  But cancer and high cholesterol - before 35.  Really?  Birds eye view, the previous generations of my family are not pictures of optimum health.  They mostly start falling apart around age 50.  Seeing that I'm on that path was a serious wake up call for me.  I intend to enjoy my body and exploring the world with it for far longer than 15 more years.  I intend to drop in uninvited on my son when I'm 70!  Muahahahah!

To that end, I wanted to know what else my genetics had in store for me.  So, I decided to bypass word of mouth family history altogether and do two things :  1) I got my DNA analyzed at 23 and me and 2) I started gathering copies of death certificates of ancestors so that I could see first hand what was going on with my ancestors.

I'm still waiting for DNA test results.  It takes about 8 weeks.  In the mean time, I've started receiving copies of death certificates.  The results so far are unsettling.  I don't know what the 23 and me DNA test will turn up.  Will I have the mutations in the CDKN2A gene that indicate familial melanoma?  Will I have a genetic makeup that says I'm at risk for the heart disease that seems rampant on one side of the family?  Will I find other stuff I didn't know about?  Probably!  Their site does a good job of adequately discussing the consequences of finding out about health information from DNA.  What if you find out that you are a carrier for a particular disease that you didn't know about?  What if you even find out that you HAVE a particular disease that you didn't know about?

I'll admit, I'm a little nervous.  But mostly because I now know that odds are, I am at risk for stuff that I could have been mitigating the risk of for a while now, had I known.  I'm not sure how I'll feel when I get that DNA test back that will invariably tell me I am at risk for, have or carry some other thing.  But had I known about melanoma before hand, I would have had a doctor scrutinizing my skin once a year without fail.  Would I have worried?  Maybe.  But I got melanoma.  So a bit of concern could have been a good thing.  I think, given the relatively low constitution of my family, in general, prevention and lifestyle changes are paramount for me.

The DNA test and death certificates aren't a silver bullet.  I won't take that stuff and get treated for everything on the list because there's a good chance I won't have all of it.  But it serves as a good jumping off place for screening or narrowing down possibilities when something does go wrong.  It will also serve as a good lifestyle guide.  An ounce of prevention could stave off most of what I know about my genetics thus far.  I won't stop living but I'll do it without fried chicken and with copious amounts of sunscreen.  You know... common sense.

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