Case Study: Babykirk and her Echogenic Focus

Ok guise. Let's talk about the baby.

Fun stuff first. OMP and I are thrilled to announce that Babykirk is a girl!

The Money Shot

Initially OMP had his fingers crossed for a boy, but now that the results are in, I think he's more excited than I am. When he was 13-years-old, his little sister was born. He's starting to relive the memories he has of her as a baby, and is getting more and more excited for this little one to make her debut.

Now to the nuts and bolts...

At our 12-week visit, OMP and I elected to have the Integrated Screen. This is a multi-part screening tool (blood tests as well as ultrasound measurements) to help to determine the relative risk of trisomy and other fetal problems. Our results were excellent. The genetic counselor estimated our risk of trisomy as being less than 1 in 50,000.

Our 18-week ultrasound, in addition to revealing Babykirk's...um...ladyhood, looked promising as well. All of the fetal measurements came back as normal. Ten fingers, ten toes, one magnificently beating heart.

Or so we thought.

A few days later, I got a call from my OB's office. The radiologist had reviewed the ultrasound images and found something known as an Echogenic Focus on Baby's heart. I wasn't to worry, but they did want me to come in for a Level 2 ultrasound ASAP.

Um. Panic.

Since I work in Pediatrics, I was vaguely familiar with Echogenic Foci and the significance of finding them on a fetal ultrasound. Basically, I knew two things:
1. It's not normal.
2. It's a "soft marker" that is associated with an elevated risk of trisomy, notably Down Syndrome.

Image from http://www.medscape.com/viewarticle/518149_6

I spent the next several hours voraciously researching Echogenic Foci and their exact significance. Luckily, I was somewhat comforted by what I read. Echogenic Foci themselves are harmless (our radiologist would later compare them to a "freckle" on the heart). They usually indicate a slight calcium build-up within the heart muscles. They are not associated with any cardiac problems - short- or longterm. They are only concerning because they seem to be more common in children with chromosomal abnormalities.

How much more common? The literature was vague. The general consensus is that although Echogenic Foci can be a normal finding, they can effectively double an individual's chances of having a chromosomal abnormality. Baby's initial chances? Less than 1 in 50,000. That means, at worst, the Focus increased those odds to less than 25,000, which is still pretty good.

So OMP and I went into the Level 2 ultrasound being cautiously optimistic. We prayed a lot. We asked friends and family to pray.

--- Just to pause for a second ---

If someone happens to stumble upon this blog because they've recently learned that their little one has an Echogenic Focus, first of all let me say that I'm sorry that you're dealing with this. I can honestly say that there is nothing more terrifying than thinking that something might be wrong with your baby.

That being said, I'll remind you that this is just our story. It's ongoing. We still don't know how it will end. But I do hope that our anecdotal journey can be a comfort to you while you're weighing your options. We are still weighing them. We are still praying, trying to trust God, and are still hoping for the best.

--- Let's continue ---

First of all, our radiologist was awesome. She had that "I'm obviously the best doctor in the world and know everything" vibe which is exactly what you want in a situation like ours. The focus was still there, she showed it to us on the monitor. She began by saying that her eldest son had an echogenic focus on his fetal ultrasound. She says that she considers it a relatively normal finding, and that in certain populations it can occur in almost 40% of individuals. She told us that the focus itself was not a problem, and made the comment about it being similar to a freckle.

We were worried that the focus would double our chances. She disagreed. Given that every other screening test and "soft marker" was normal, she felt that it in no way affected our odds. In her words "you don't have a bad option here." She did not feel that further testing was strictly necessary. However, we had her blessing if we did want to pursue further testing like a cfDNA test or an amnio. It was up to us, but if it were her, she wouldn't worry about it. Actually, she kind of gave us the impression that she didn't know why we were there.

As of right now, we've done nothing, except maybe stop worrying. We did briefly consider cfDNA testing, and I might discuss it with my OB at my upcoming visit, but generally we feel very reassured. We've acknowledged that it's a possibility and have emotionally dealt with that. We plan to continue to pray (and would ask you to as well!), but otherwise, we're letting it ride. There's already so much love for this baby and, quite frankly, we're feeling pretty blessed.

Anyway, more to come on Babykirk's Echogenic Focus. As for now, on to more important things, like trying to find some baby-sized hot pink hiking boots...

Scary Stories from the Interwebz: What is a GMO?

The Internet is a big, scary place. It contains a plethora of information on just about any available topic. That's the big. Unfortunately, there is very little regulation of the quality and accuracy of that information. That's the scary.

Like just about any other form of media, people have an overwhelming tendency to believe that everything they read on the Internet is true. Especially blog articles that use words like "studies," "research," and "scientists," and definitely when they discuss things like cancer and obesity and all of those other pervasive medical problems that are plaguing our generation.

I'd therefore like to start a new series affectionately titled Scary Stories from the Interwebz. I'll use this series to discuss hot topics that I come across at work and in my personal life that are largely misrepresented, and sometimes blatantly false. And I'll do my best to support my claims with evidence. Like, actual evidence. That I read. And understand (<-- that part is important!).

For our first Scary Story, let's talk about GMOs.

OMP and I were getting lunch today, and a nearby diner was telling his college-age sons about the dangers of GMOs.

"Yeah, it stands for 'Genetically Modified Orgasms.' I mean, ha-ha, 'ORGANISMS.' Yeah it's like, they take fruits and vegetables and animals and stuff and inject them with all sorts of chemicals and antibiotics. Montasanto is the name of the company that does a lot of it, and basically these chemicals are toxic and can cause all sorts of problems like cancer."



*FACE PALM*

I understand that the idea of dudes in labcoats injecting "TOXIC CHEMICALS" into fruits and veggies can be rather terrifying, but why don't we take a few minutes to discuss what a "Genetically Modified Orgasm Organism" actually is.

Genetic Modification (formerly known as selective breeding), goes back to the early days of farming. Selective breeding is the process by which farmers (or scientists, or people who are bored or whatever)

[breed] organisms with desirable traits in an attempt to produce offspring with similar desirable characteristics or with improved traits. 

Most of the animal and plant products that we consume today are the result of selective breeding. In fact, many of the products available today wouldn't even exist if it wasn't for selective breeding. Corn is a great example. Michael Polland's The Omnivore's Dilemma tells an amazing story about the history of corn (and also why the Corn industry is a little terrifying). You can also read all about the history of corn here. 

Image from http://learn.genetics.utah.edu/content/selection/corn/

As time goes on and technology improves, we're getting a little better at this this whole selective breeding thing. Now instead of providing a candlelight dinner and mood music to our various livestock, we can perform artificial insemination and DNA modification.

A 2011 literature review published in Genetics discusses how the genetic engineering of crops differs from traditional selective breeding

Genetic engineering differs from conventional methods of genetic modification in two major ways: (1) genetic engineering introduces one or a few well-characterized genes into a plant species and (2) genetic engineering can introduce genes from any species into a plant. In contrast, most conventional methods of genetic modification used to create new varieties (e.g., artificial selection, forced interspecific transfer, random mutagenesis, marker-assisted selection, and grafting of two species, etc.) introduce many uncharacterized genes into the same species. Conventional modification can in some cases transfer genes between species, such as wheat and rye or barley and rye (Ronald, P., 2011)

Basically, we can do it in a lab. Oh, and we're much, much better at it.

So what's the big deal? Well, it could be nothing.

According to the American Association for the Advancement of Science, 

The World Health Organization, the American Medical Association, the U.S. National Acad-
emy of Sciences, the British Royal Society, and every other respected organization that has examined the evidence has come to the same conclusion: consuming foods containing ingredients derived from GM crops is no riskier than consuming the same foods containing ingredients from crop plants modified by conventional plant improvement techniques (Statement by the AAAS Board of Directors on Labeling of Genetically Modified Foods, 2012).

Like any new technology, GMO's have been subjected to absurd amounts of safety monitoring and scrutiny. If you have a few weeks of free time, you might want to read A Decade of EU-Funded GMO Research put forth by the European Commission. I'll be honest, I just skimmed it. But suffice it to say that there's been a fair amount of investigation, and the general consensus is that GMOs are filling an important need without introducing any significant risks.

Then why did my favorite soccer-mom blog tell me that GMOs are scary?

Despite the fact that the process of genetic engineering is not all that scary, the purpose of all this modification is worthy of some reflection. Genetic engineering can accomplish some amazing things. It can increase the protein and iron content of rice so that poor communities can afford nutritionally- and calorically-dense foods. It can create stalks of corn that stand up straighter, increasing the yield and the health of the plant. Actually, for the most part genetic engineering is pretty amazing, and has the potential to solve a lot of the world's hunger problems.

But, like any technology, it can be dangerous when taken into the wrong hands. For example, genetic modification can also make it so that plants can survive an offensive onslaught of herbicides and pesticides, and somehow manage to not die. 

ZOMG CHEMICALS.

Image from http://sci-ence.org/red-flags2/

I'll have to save my rant on how much I hate the word "chemicals" for another day. In short, "chemicals," aka man-made substances, are not inherently bad. That being said, if there's a substance potent enough to kill unwanted plants and animals, it's probably worth a second look. 

In addition to the bazillions of soccer-mom blogs, there's plenty of actual research that indicates a statistically significant correlation between certain herbicides/pesticides and adverse health outcomes. An herbicide known as Roundup (manufactured by the evil Montasanto company) has drawn considerable criticism (Richard, S., et al., 2005).

Does this mean that your salad is coming with a side of Roundup? Maybe. Unfortunately, that's only the tip of the iceberg when it comes to the true dangers of herbicides and pesticides. A short list of other concerns:

1. Herbicide resistance
2. Endangerment of species that are not "Roundup Ready"
3. Seed contamination
4. Endangerment of "non-targeted" species of insects and mammals (think: honeybees, deer, etc.)
5. Contamination of groundwater and endangerment of aquatic flora/fauna
6. Possible endangerment of the local human community

 There are too many sources to list, but you can start with the following:

http://web.mit.edu/demoscience/Monsanto/impact.html

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2984095/

http://pubs.acs.org/doi/abs/10.1021/ac991359c

Or just try wikipedia

In short, you shouldn't be worried THAT genes are being modified. You should be worried about WHICH genes are being modified. And unfortunately, grocery stores have yet to advertise that above their produce bins.

So what's a concerned consumer to do?

Honestly, don't worry about the whole GMO thing. It's over your head. Frankly, it's over my head. All you need to worry about is supporting sustainable agriculture. When possible, buy organic. Better yet, buy local AND organic. Sure those organically- and locally-grown apples might have been genetically modified at some point, maybe to make the trees grow taller or to make the apples a prettier color. But you can rest assured that you're not getting a healthy dose of Roundup in your fruit salad. More importantly, you're supporting an organization that, at least in some way, has examined how its growing practices impact both the environment and the people who consume its products. Win-win.

That concludes this week's Scary Story from the Interwebz. Stay tuned for an actual update on Babykirk. I promise I'll get to it eventually.

Proof that you've been in the game.

Hello dear neglected blog.

I'm way overdue for a Babykirk update, I know. There's a lot going on right now and I want to be able to record it all, but still waiting on a few things to fall into place so to say. Here is a more recent shot of the little nugget, a little more detailed than my MS paint drawings, but obviously lacking a certain aesthetic.

gawww.

For now, let's talk about stretch marks.

Aka striae gravidarum, these puppies are a common concern among pregnant women. Let's do a little myth-busting here.

...

1. Cocobutter prevents them.

Nope (Osman, H., et al., 2008).

2. Lol, there's no such thing as a cream that prevents them. They are 100% genetic so you're basically screwed.

Not exactly. Yes, there is shown to be a strong genetic link to the presence and severity of stretch marks. They're also more common in women of certain ethnicities, or women with a personal history of stretch marks (due to pregnancy or other reasons). But there are two products that have demonstrated some hope:

A product called Trofolastin, a cream that contains Centella asiatica extract, vitamin E, and collagen-elastin hydrolysates, has demonstrated some clinical effectiveness in the prevention of striae (Osman, H., et al., 2008). Also there is some evidence that early use of Tretonoin (aka Retin-A) might have some effect (Rangel, O., et al., 2001). 

I know it's not super encouraging, but for women who have a strong genetic risk, at least there's a glimmer of hope on the horizon.

3. If you gain less weight during pregnancy, you're less likely to get them.

This one actually has some merit to it. There are numerous reasons to gain a healthy amount of weight during pregnancy. But if that evidence isn't enough for you, a 2007 study did show a statistically significant correlation between the presence of striae and excessive weight gain in pregnancy (Rubeiz, N., et al., 2007).

4. You're less likely to get stretch marks when you're young.

Once again, false. First of all, I see plenty of teen mothers in my office who have just as many stretch marks as the next person. Anecdotal evidence aside, there is actually some scientific evidence that younger mothers (average age 26 versus average age 30) are actually more likely to develop striae than their older counterparts (Rubeiz, N., et al., 2007).

5. Drinking plenty of water is the best way to prevent them because it keeps your skin hydrated.

Ehh. Yes and no. Hydration is really important in general during pregnancy because you're effectively doubling your blood volume. Drinking plenty of water does also help to keep your skin hydrated, and there's some evidence that good skin hydration helps with the itchies that are common with stretching skin. But no clear evidence that it does anything to prevent stretch marks.

...

The take away here? Know your genetics, ask mom and grandma and see what your chances are. If you're really concerned, talk to your OB about some of the treatments listed above.

Or...don't? Stretch marks are like any scars. As my Dad used to say, it's proof that you've been in the game. Own them, ladies. You earned your stripes.