Research Revolution!

This is not a paid review but a pure and simple post of, “Hey! Check this out!”

One of the reasons why I agreed to write some posts for 23andMe was because I found the company and the product to be pretty awesome. Really it is beyond a product, it is a community. And within that community are scientists that are constantly doing more and more genome research. The kind of research that can seriously make a difference.

Right now 23andMe is having a sort of summer contest. Well, calling it a contest sort of makes it a game, but for me it is not a moment of play- it is an opportunity. They are committing their scientists to a specific health issue and they want the community within 23andMe to help them select which issue it will be.

If you have a moment please click here and sign up to vote in the Research Revolution. Then vote for research on Multiple Sclerosis. Setting up an account is FREE, but supporting research to help us better understand MS is priceless to me.

Have I mentioned that my Mother has MS?

She was officially diagnosed during my freshman year at college. It was almost a bit of a relief to actually have the diagnosis because she spent years undergoing tests and studies trying to find out what was wrong. The knowing is, of course bittersweet. You finally have a name for what ails you but there is NOTHING to cure it.

And because MS is so squirrely no two people seem to suffer the same way. The symptoms vary widely from person to person. Here are the biggest symptoms that my Mother deals with daily: fatigue, aphasia, falling down, muscle soreness, depression, narcolepsy, difficulty swallowing. And because it isn’t like an open head wound most people (me included) sometimes forget that she suffers. Daily, Hourly.

This 23andMe revolution is a HUGE deal and it would be beyond amazing if such a great team were able to dedicate their energy to researching Multiple Sclerosis.

(And as a side note, because it is a pretty kick ass deal, you can buy a research version of the dna test for only $99. That deal ends on September 30th.)

We have a Winner! We have a bonus!

Giveaways are all kinds of exhilarating and fun. Thank you to all that stopped by and entered. Your comments were so touching.

This morning I plugged in information into the  randomizer and it zinged back a winner:

Picture 5So just who is #3? Why that would be Juli. I have sent Juli an e-mail notifying her, but I wanted to share her comment with everyone.

Well, this would be significant for me because I recently lost my father to cancer and cancer is not in our family history. My mother was adopted and is generally healthy but, again, we have no record of her history…so there’s a giant question mark there. As I grow older, and as I watch my son grow, I am learning more about myself and wondering whose traits I have acquired. I am very much like my father in many ways, but my mother and I share some obvious similarities. I would be very curious to see how it all matches up. Depending on how many people the test kit can include, I’d be curious to compare my brother and I as well.
Further, we recently found out our donor has MS. I’ve been screened for it twice with negative results, but I wonder what combination he and I have passed down to Z…

Looks like Juli & her family will really benefit from DNA testing. Congratulations to her!

Ready for the BONUS? Well since so many of you were interested in 23andMe they have decided to extend an offer to you guys. This is really cool.

They are going to offer a discount code good for $50 off one kit to the first ten people who use it in the 23andMe store. The code will expire in two days so act fast!

Code: EUHQXA

Thanks again to all that entered. There are going to be some fun changes on the review blog soon so keep checking back!

Don’t Spit in the Wind. Spit in a tube!

wholekitRecently I have been writing about my experiences with getting my DNA test information from 23andMe.  They sent a test for me, Mother & Grandmother. Three generations of tube spit.

Truth be told it has been emotional and educational. I have learned more about my own genetics than I ever dreamed and it has also brought me closer to both my Mother and Grandmother (in unusual ways). There is something beautifully tangible about being able to log on to a network and see the genetic map of your family looking back at you. Even more valuable has been the community within 23andMe. Everyone there is just as curious about what makes them tick as I am. It is a whole new frontier.

The fantastic thing is that now ONE OF YOU will get to know what it is like to be a part of the 23andMe community. That’s right it’s a giveaway!! 23andMe is going to give a free DNA test to one of my readers. (That’s a $399 value that includes access to detailed information about your traits, family background and health predispositions.)

So here is how we are going to do it: Leave a comment answering the following question: How and why would winning DNA testing be significant for you?

I will do a random drawing to select the winner (via randomizer.org). The contest is open to legal residents of the USA, ages 18 or older and the winner is responsible for any applicable taxes.

For a complete list of rules go here: https://www.23andme.com/bloggergiveawayofficialrules/

Comments will close at midnight (EST), June 29th.  PLEASE make sure you double check your e-mail addy so I can contact you if you are the winner.

My Grandmother’s Check List

Convincing an 87 year old woman to spit into a tube might seem like a daunting task, but my Grandmother loved it. Sure it took her the better part of a morning to fill the tube and she somehow managed to do it an the most lady-like of ways, but she embraced the “assignment” with as much vigor as she could. You see my Grandmother is an awesome marriage of two kinds of geek: ancestry geek and science geek. When I told her that I wanted her to spit in a tube so that we could compare all of our DNA and learn about our family’s history THROUGH science she was thrilled.

But here is also where I tell you that my Grandmother has been battling Alzheimer’s for over seven years. And this is also where I share that it is a giant fear of both my Mother and myself that we will one day face our own battle with this horrible disease. In her lucid moments (and she was absolutely lucid the day we explained what 23andMe is and how she could participate) she also worries about what health ailments will be carried on. When speaking of her Alzheimer’s she is sad and angry.

When we got GM’s genotype results back Mother and I examined them differently than we examined our own results. For starters one of the main reasons why Mother and I were so keen on finding out so much information was so that we could begin preventative care where we saw necessary. We could research and study and be on the look out. In terms of GM’s results it was a bit of a check list, and possibly our way of verifying how “accurate” results could be.

Now I say “accurate” because just because your genes reveal a predisposition does not make it an actuality. But that is sort of what Mother and I were looking for. Just what did GM have in her genes and what, at 87, did she end up having to deal with.

The first thing we read were GM’s disease risks, and this is pretty interesting, of the two disease risks indicated GM has neither. HOWEVER, her children do. Within her traits we found several items that were absolutely true: GM does have brown eyes and she does have amazing muscle performance. The biggest, “oh wow she SO has that” moment was when we saw that GM was at a very elevated risk for ulcerative colitis. In fact GM did suffer with a very rare kind of colitis. It nearly killed her as it took YEARS to be diagnosed.

It was seeing that elevated risk that made Mother and I appreciate 23andMe more than we thought we could. If only…if only we had access to this information a decade ago. Maybe we could have spared all of the horrible years of pain and discomfort that GM faced while searching for her colitis diagnosis.

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A New Generation of Pregnancy

Recently I wrote about the fantastic stretch-marks that I achieved during my pregnancy with W. And really, they were truly fantastic. And when I wrote about them I happened to mention that I obviously was going to get stretch marks because my mother had them during her pregnancy. Well now it turns out that I misspoke and my mother would like me to clarify that she did not get any stretch marks when she was pregnant. In fact she had a very easy and mellow pregnancy with me. It feels a bit weird that I just assumed that my experience with pregnancy would be a mirror to that of my mother’s experience. Isn’t that how it is supposed to go? Aren’t we just following in the same path?

I went back to my genome results from 23andMe, this is something that I find myself doing more and more as there is always something new to see, or a new survey to complete. I dove into the health and traits section that is specifically geared towards pregnancy and went through each trait comparing and contrasting my data with the data available based on the tests of both my Mother and Grandmother. You would think that we would be, at the very least, somewhat similar, but it turns out, when it comes to our DNA we are pretty different.

The largest genotype discrepancy happens to fall within two biggies of the pregnancy health world: pre-eclampsia and something iI had never heard of before, intrahepatic cholestasis.

Pre-eclampsia was something that I was anxious about during my pregnancy. I knew of several women that had developed it and all had to deliver earlier than they would have liked. I knew it was serious. Big time.

And wouldn’t you know that at my very first official OB appointment I had high blood pressure and was then flagged to watch for pre-e for my entire pregnancy. It seemed like at every appointment there was something of a warning. Early on set of edema around month five. High levels of protein in my urine around month 6. Every week that I went in I braced myself for the words, “you have pre-eclampsia we have to deliver NOW.”

Thankfully I never heard those words and was able to carry my son to term (and then some), but my anxiety about pre-e was always there. And oddly enough it was there without any sort of familial tip off that it should be. My Mother didn’t have any issues, nor did my Grandmother. And now that I am looking back at my genotype results and what sort of things I am at higher odds for I feel incredibly validated.

There, in the mix of health traits and risks, is something that us utterly unique to MY DNA: I have a G at a specific marker where my Mother and Grandmother have an A. That G simply means that I have a substantially higher risk for developing early on-set HELLP (pre-eclampsia). And while I did not have an actual, official diagnosis during my pregnancy my body certainly behaved like it was going there.

I wish I had these results before I became pregnant. In a weird way I feel like it would have comforted me, or at the very least it would have made me feel less shy about calling in to the OB’s office with complaints about my edema. Having a predisposition does not make it an actuality, but it totally makes it something to be on the look out for. I have to wonder if my earlier anxiety about pre-eclampsia was there because my body knew before my mind did that it could happen.

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Picking and Choosing

If you met me and walked around my house looking at family portraits you might remark on the size of my family. You might then be surprised to discover that the family in the photos are not really family. Oh sure we share some genetic links and have names for each other like “cousin” or “aunt”, but the closeness that I feel should define a family does not define ours. Instead things like grudges and conflicting politics and distance and hurt feelings have damaged most of the shiny veneer that glosses over the biggest portrait from the early 80’s. We are a family, but instead of being grounded by roots we are like a series of clippings from one plant, scattered across the nation in various murky glass jars.

My particular “jar” shoot contains my Grandmother, my Mother, myself and now my Son. But rather than isolate ourselves alone on a shelf, we have tried to inch closer to other jars, other families. Because even though our genetic family is not close, we still crave the closeness of like-minded people.

Within our group of collected friends are people that are so close, so tight, so comforting that they feel like family. This notion has been a part of my life since the beginning as most of the women that I grew up calling “Aunt” are in no way related.

I also grew up with an interesting knowledge of ancestry and celebrities. Well certainly not all celebrities, but if someone in the movies had a surname that was also in our family tree we began to identify with them as a relative. Not in a show up at their door way, but more in a, “So and So is in a movie this weekend. Let’s go see our cousin!”

Ready for another family quirk? My Grandmother’s last name is Smith and whenever we see another Smith, whether it is at a doctor’s office or playing in the super bowl we nudge each other saying, “we are probably related”. Think of it as a home game version of the classic chorus of John Jacob Jingleheimer Schmidt.

One of my giant fantasies about being part of the extended 23andMe “family” is that one day I discover someone on-line that really is family. In my mind it would be a simple “click here to find out if you are related to someone”. And then there would be like a pool of people all waiting to get to know you, all fresh starts, all distant cousins.

I also hope that by understanding the information revealed in my genetic analysis by 23andMe that I might some day find out what really links a family- because it certainly isn’t just in the DNA. Right?

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He looks just like you.

“He looks just like you!” I hear that the first time most friends see my son. And truth be told, he does. He has my eyes, my face shape…but he also has my Grandmother’s nose and my Mother’s dimples. It makes me wonder what else he has from us beneath the surface. How similar are we?

If someone from your family also purchases a kit from 23andMe and elects to share their data with you a new world of comparison is revealed. On the 23andMe website you can literally compare genes.

I am currently sharing my information with my Mother and my Grandmother. Within the genome sharing section I can compare all of our genes and compare how similar we are too each other. Compared to my Mother we are 84.40% similar. Interestingly enough I am just a tad more similar to my Grandmother.

I find this scientific spell out fascinating as it pretty much validates a decades long running joke within our family that I am JUST like my Grandmother. We like the same foods, we have the same outgoing personalities, and we both have freakish needs to be early.

I have always thought that since I am like Grandmother that my kid would grow up with a personality like my Mother’s. It would only be fair that she be rewarded with a Grandson that was an adventurous, tree-climbing, barefoot walking playmate when she had to endure years of my annoying clock watching.

But when you are talking genetics, just who will my son favor?  Will he have the same endurance that Grandmother and I have or will his circadian rhythm match my Mother’s?

I am curious about who my son will become, but worry that I won’t let him just be without trying to make every quirk or trait a direct link to someone in our family. Will anything just be his? At what point does uniqueness come into play.

What if he spat into a tube and we sent it off and eventually found out that he has sky-high genetic compatibility with one of us? If he were to know that information would it change the way he grew up?

I will admit that when I was younger being told that I was just like my Grandmother was not an ideal for me. When I was a little girl my Grandmother was an overwhelming force. She was involved with so many organizations, often as the head, and commanded a lot of respect. She loved to cook but hated anyone being in the kitchen with her to slow her down. She was tough, unyielding, and bossy.

If someone told me that I was just like Grandmother I would stop what I was doing and do the opposite. If she was zagging then by Jove I would zig!

But eventually, as I grew into my own person, I was able to see where the overlaps were. Sure she was stern where I was, well, not- but at the core we both wanted to be liked and valued. And while she liked the kitchen to herself and I liked an audience, we both liked to cook and entertain.

I have been thinking a lot about at what point my son should be given this extra bit of information from our genetic family tree. It seems harmless to tell him that he has my eyes, but I worry about telling him about some of the more hard-wired genetic links. I mean at what point do you share the family’s history of depression and dementia? And by sharing do you help or hurt? Does knowing about a genetic predisposition hamper organic growth?

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