Elie's Story by Holly Smith (about Velo-Cardio-Facial Syndrome)

The post below is written by our friend, Maryland-based writer Holly Smith, about her daughter. We offer it to readers who want to learn more about 22q11 microdeletion, which is the most common genetic abnormality after Down syndrome. The picture below is of Elie two weeks after she had heart surgery. The picture at the bottom is of Elie at three and a half months, smiling on the couch.



Elie's Story by Holly Smith
Elie (rhymes with "jelly") was born Nov. 3, 2007. Shortly after birth, it was discovered that she had a potentially fatal heart defect, Truncus Arteriosus/pulmonary atresia, along with a genetic syndrome often called DiGeorge (but which is really a "22q11 microdeletion" syndrome called Velo-Cardio-Facial syndrome, or VCFS). It’s the second most-common genetic syndrome after Down syndrome, and can be so mild as to go undiagnosed into adulthood (typical hallmarks include heart defects, palate abnormalities, and characteristic—but not “abnormal”—facial features).

Elie was flown to Children’s National Medical Center in Washington, DC, and underwent an extensive open-heart surgery on Nov. 12, which was performed by Dr. Richard Jonas, a rock star in the field. Despite some drama, it was a total success, and she finally came home on Dec. 5.

Still, we don't know what the future holds as far as Elie's VCFS. There are 181 maladies associated with it, from "profound cognitive/social/physical problems" to "difficulty with math."

We DO know that, so far, we’ve been incredibly lucky. Elie is a wonderful, happy, outgoing baby, and she’s dodged tons of bullets: Her immune system, kidneys, and hearing are fine, her heart is strong, her suck/swallow reflex is perfect, and her blood-calcium levels are normal.

If issues crop up later, we'll deal with them then. What we won’t do, though, is be cowed by this diagnosis. We’re going to assume Elie is absolutely normal and can do everything her three older siblings can do unless or until we discover otherwise.


Some helpful websites:

VCFS Educational Foundation

Cincinnati Children’s Hospital

Children’s Hospital of Philadelphia, which has one of the world’s only VCFS clinics

Also, Yahoo has at least two groups devoted to VCFS/DiGeorge.

Exercising Baby

A floppy newborn who can’t lift her head or control her limbs may not seem like a candidate for exercise, but she is: exercising baby (most of which she’ll passively do herself) is exactly how she'll grow stronger and learn to coordinate movements. Parents today tend to keep their newborns in bucket-seat carriers much of the time, which not only deprives them of needed human contact, but prevents them from moving and developing their muscles.

Passive exercise is one of the first ways for the baby to develop balance, coordination, and muscle tone. When you’re carrying the baby and moving, the baby is not a floppy dead weight; they begin to hang on, they conform to your body, and they stabilize themselves (by contrast, imagine holding something truly floppy, like a large freezer bag half-full of water). Even in the first few days after birth, their muscles will try to hold them in a partial fetal position, arms and legs bent, and they will resist being stretched out to full length, as they do when the doctors measure them and assess neonatal (newborn) muscle tone.

You’ll notice that your baby, whether you're holding her or she’s lying down, is often moving: squirming her legs, flailing her little arms. In a word, exercising. But while she can and will do this exercise herself, doing baby sit-ups and baby gymnastics with her is fun for dads and good for babies.

For baby sit-ups, lie your baby on your lap with her feet against your stomach and her head on your knees, and let her grasp your thumbs while you grasp her forearms. Pull her gently up by the arms until she is in a sitting position. She’ll be shocked—her world view has changed! You can also move her arms back and forth to engage her movement and muscle response.

Here’s how we do baby gymnastics: Lie the baby on her back and hold onto her legs, alternate pumping them and tell her she is “running, running, running.” Then bicycle her legs and tell her she is “bicycling to work, bicycling home again.” Then push her leg gently to her head or to the opposite arm and say “One, two, one two,” as if you are counting the number of leg presses she’s doing. Then grab both legs and pull them off the ground and say, “Hoppy frog, hoppy frog, gymnastics.”

Maybe it’s the singsong voice, maybe the pure absurdity of movement, or maybe the sheer joy of exercise but we’ve never met a baby who didn’t love to work out in this way.

The World Eye Bookshop in Greenfield Massachusetts

Ordered 25 autographed copies of the book. We sent them. UPS delivered them soaking wet (and then denied our claim to be reimbursed for the cost of the shipping, to say nothing of the fact that they destroyed $398.75 worth of merchandise. We're disputing this with them. We'll keep you updated but, for the record, I've never had a problem like this with any other company. I highly recommend Fed Ex and the good old-fashioned post office.) We just sent out 25 more copies of the book and they should arrive in a week or two.

If you live in western Massachusetts and you're looking for a copy of the book, get an autographed one from the World Eye Bookshop! (if it's a gift though, don't ship it UPS).

The World Eye Bookshop
156 Main St
Greenfield, MA 01301
(413) 772-2186

James and Chris on JPR

Co-author James di Properzio and photographer Christopher Briscoe will be guests Tuesday, March 25th on Jefferson Public Radio's program, The Jefferson Exchange.

The program will run from 9 a.m. Pacific Time to 10:00 a.m. and you can listen to it on the internet as it broadcasts by clicking here.

Now, Let's Do The Science

It's fascinating to read about the latest and greatest scientific studies about pregnancy, children, and family life.

The only problem is, when you look past the headlines and read the substance of the studies, it's hard to find them entirely credible. Control groups are missing, the number of people studied is not statistically significant, or, despite what the media touts, any clear and credible cause and effect is not established.

We're going to the Council on Contemporary Families conference next month in Chicago and it will be interesting to get a chance to meet face to face some of the researchers conducting these studies and the academics interpreting them, and ask them some hard questions...

In the meantime, if you'd like to surf some new scientific studies, here are a few that have made the news lately (but read them with the caveat that what is presented here may be far from the "truth":


Good Marriages Make for Good Blood Pressure



Stressed out parents have sicker kids


Some moms quit cigarettes, alcohol, and pot use while pregnant but dads don't

Wheat? Whole Wheat? What?!

Here's another article that first appeared in Pregnancy Magazine -- about why it's important for women to eat WHOLE GRAINS while pregnant.

Wheat? Whole Wheat? What?!
By Jennifer Margulis

When I was six months pregnant with my first child, I walked into our local bagel shop and asked if they had whole wheat bagels. The clerk behind the counter looked perplexed.

“No,” she said in a low, almost conspiratorial tone, “none of our products are made with wheat.”

Of course most of the bagels in that shop were made with wheat flour. But it is processed wheat flour that is white in color and many people, like the bagel clerk, don’t know that white flour and whole wheat flour actually come from the same grain. Pregnant women are now routinely advised to eat whole grains instead of processed grains but with this kind of widespread confusion, what’s a pregnant mama to do?

“It’s important for everybody to eat whole grains, at least three servings a day,” says Larry Lindner, executive editor of the Tufts University Health and Nutrition Letter and an expert on nutrition, “but it’s particularly important for pregnant women.” Whole grain food, like brown rice, whole wheat pasta, unpearled barley, whole millet and oats, is high in fiber, which can help alleviate constipation, a problem many pregnant women experience. In addition, since whole grains take longer to digest, pregnant women suffering from low blood sugar (also known as hypoglycemia) report fewer problems when they eat whole grains.

“Whole grains metabolize more slowly in your body,” explains Kristen Bernard, an obstetric nurse at Brattleboro Memorial Hospital in Brattleboro, Vermont, who counsels pregnant women on nutrition. “They reduce problems of high glucose that can come from eating refined grains. They have more fiber, which helps your intestines stay cleaner, and more vitamins and minerals.”

A kernel of wheat is made up of three components: the bran, the germ, and the endosperm. The bran, which contains most of the plant’s fiber, and the germ, which contains most of the nutrients, are both removed in the process of converting whole wheat flour into white flour. What is left is the starchy endosperm.



Because so many vital nutrients are taken out during processing, most food companies add back chemical nutrients into white flour, which is why the flour is called “enriched.” However, so many vital nutrients are lost in the refining process that enriched flour, though it sounds healthy, can never be as nutritious as whole grain flour. “Most of the nutrients that were there to begin with are never reinstated,” explains Lindner. “These include vitamin E, vitamin B6, pantothenic acid, magnesium, manganese, zinc, potassium, and copper.”

Another vital component of the grain is lost during processing: phytochemicals. Though it sounds like a tongue twister, phytochemical is simply a fancy term for chemicals found in plants that are not vitamins or minerals but that play a part in promoting good health. “Unlike vitamins and minerals, phytochemicals are not put into prenatal supplements,” explains Lindner, “but they are in whole grains.” In fact, researchers are just beginning to isolate these compounds-—there are literally thousands of them. While there is more to learn, one thing is certain: whole grains contain dozens of beneficial phytochemicals, processed grains do not.

When it comes to wheat products like bread, pasta, pie crusts, pretzels, cereal, muffins, cakes and cookies, pregnant consumers need to be savvy label readers. “Look on the ingredients list of the grain-based foods that you buy and make sure that the word ‘whole’ is in there,” says Lindner. “You want to see that word ‘whole’ and you want to see it first.”

But beware: even products that are advertised as “whole wheat” often are not made exclusively with whole wheat flour.

“Sometimes the big lettering on the front obfuscates the actual ingredients,” cautions Lindner.

For example, Maria & Ricardo’s Tortilla Factory, based in Quincy, Massachusetts, sells a package of ten-count “whole wheat” tortillas. A look at the ingredients, however, shows that these tortillas actually contain more white flour than whole wheat flour. Whole wheat flour is the third ingredient. It’s important to read labels carefully and remember that “wheat” does not mean “whole wheat.” If “wheat” is listed as one of the ingredients, you can be sure it means “white wheat”—the nutritionally devoid food that it is best to leave on the shelf.

According to Ruth Yaron, author of the bestselling book, Super Baby Food, the bottom line is money.

“The reason why everything is processed is because it’s cheaper,” insists Yaron, who explains that food manufacturers promote products made exclusively from white flour because white flour has a much longer shelf life than whole wheat flour. “White flour can stay on the shelf for months, even years, while whole grain flour gets rancid very quickly,” Yaron says.

I grew up eating white bread and white rice, like everybody else. It wasn’t until I was 29 years old, pregnant, and keenly interested in nutrition that I realized how much tastier and more interesting whole grains are to processed grains, especially if you find the right products. Whole wheat pasta with sardines is a gourmet Venetian specialty (and Bionaturae’s organic whole wheat pasta is so delicious that I’ve managed to convert even the most skeptical friends). But as Americans we have learned to prefer white bread, and many of us have never even tasted brown rice.

“When your body gets used to a healthy diet, you won’t like how you feel when you eat the processed stuff,” insists Yaron.

Since whole grain foods are so much healthier, making the switch while pregnant is not difficult. Start with a bowl of oatmeal or cold rolled oats in milk with raisins, flax seeds, and almond slivers for breakfast, use whole grain bread for your next lunch sandwich, or add a half a cup of barley or brown rice as a side dish to a dinner meal.

Grab and go products for healthier snacking during pregnancy, available at health food stores and in the natural foods aisle of conventional supermarkets, include brown rice cakes, brown rice crackers, graham crackers made with whole wheat flour, and multigrain pretzels.

What Labor's Really Like For Your Wife

A version of this post first appeared in Pregnancy Magazine.

What it’s Really Like
By Jennifer Margulis

When I was a freshman in college, my boyfriend told me that his mother said that giving birth to a baby was like trying to defecate a watermelon. Fifteen years and three children later, I would describe labor differently: for me it feels like being on a rollercoaster (a tortuous, nauseating, terrifying, neck-breaking rollercoaster) with no way off. Labor slams into your body and happens to it. My second labor was manageable but my third labor was so painful that after my son was born and before the pain receded (you really do forget—that’s why so many of us have more than one child), I would literally cry when I saw pregnant women. My tears were in empathy—I felt so sorry that in order for these pregnant mamas to hold their babies in their arms they'd first have to survive labor.

Here’s the real skinny on what it’s like to be pregnant and give birth, culled from interviews with women around the country. We’re giving it to you straight up with no cream and sugar. Warning: what you read here you won’t find in the advice books. If you don’t want to know the unfrosted truth, read no further.

What does it really feel like…

…when you're nauseous during pregnancy?

“It’s like being really, really carsick—like you’re studying a roadmap in the passenger seat and you only had barbeque potato chips and a 300-ounce Coke for lunch and you are simultaneously coming down with the stomach flu—only with a kind of bionic-smell thing thrown in for good measure.” Catherine Newman, Amherst, Massachusetts.

…when you feel your baby move?

“Being kicked wasn’t like being kicked from the outside. It felt like my stomach was a drum, like someone was playing on me but in a good way. We went to a Bonnie Raitt concert when I was eight months pregnant, and the music was really loud. Every time the baby moved, I wondered: ‘is he dancing? Writhing in pain because he doesn’t like the music?’” Faulkner Fox, Durham, North Carolina.

…when your water breaks?

“My water was broken by the doctor and it felt like she was trying to pick my nose via my cervix. I had read up on everything but amniotomy and the pain took me completely by surprise. I was lying in a hospital bed and it came out like a flood! It was the weirdest feeling, all this liquid just pouring out of me. I felt a bit humiliated, like I was peeing the bed in public, and very vulnerable. Afterwards, I felt almost weighted down without the water—almost like I was the one who had been floating around instead of Josie.” Lynn Spirelle, Portland, Oregon.

“In my second labor my water broke on its own and my delivery took all of three hours, versus 24 for the first. I was lying on my bed reading and heard a muted pop. I jumped off the bed and felt warm water trickle down my legs.” Vicky Mlyniec, Los Gatos, California.

“There was all this pressure in my crotch—literally down in my crotch since I was way along in labor and the bag of waters was bulging out of my cervix—and then WOOSH, a big gush. Like a popped blister or a really volcanic squeezed zit, except the water kept coming and coming for what felt like a full minute. And since I was contracting really rapidly by then, each contraction set off a mini-woosh of yet more water. I was having a conversation with my labor nurse, who was standing near my feet, and it was hard to talk to her because these rhythmic spurts of amniotic fluid were gushing out of my vagina.” Marrit Ingman, Austin, Texas.

…when you have a contraction?

“For me there were two kinds of contractions—the bearable kind that made me quiet, drawing in, trying to hold it together and keep the pain in its place; then there were the unbearable kind that made me scream and curse and wail with every ounce of my power, because that would take me outward away from what was happening inside, because it would equal it or balance it or shout it down. It is a wild jagged electric twisting and squeezing that feels bigger than you are and that completely overwhelms any other thought and sensation and it goes on and on and you have no idea when it’s going to end. It is like the worst stomach gas pain multiplied beyond insanity.” Marion Winik, Glen Rock, Pennsylvania.

“The pain was all over. From the bottom of my toes all the way up to the top of my head, my whole body was in a wave of pain. It was not isolated to my stomach or cervix. It’s not like being stabbed with a knife, which is what people had told me, it was a different kind of pain that you can’t even locate, or at least I couldn’t. It just seemed like it was the worst pain I ever felt, it was totally overwhelming. I had to work really hard to get through it.” Faulkner Fox, Durham, Durham, North Carolina.

…when you have back labor?

“I had 24 hours of back labor, and I felt like I was being torn in half by a very long and continuous explosion. I felt like I was giving birth to a wrecking ball. I felt like someone was performing a spinal tap with a jack hammer. And still—none of that really gets at it. It was like hanging onto a bucking mechanical bronco, and the trick was to hang on, even though you had no other choice, and there was some kind of faulty wiring, so the bronco was electrocuting you, but with that electrocution-feeling coming incessantly to a crescendo.” Catherine Newman, Amherst, Massachusetts.

…when you're in transition?

“I felt like a Civil War soldier receiving an amputation without anesthesia. I felt like I was being murdered. There was nothing anyone could do to help me.” Hilary Flower, St. Petersburg, Florida.

…when you're pushing?

“My body began ‘pushing’ before I even knew what was going on. I felt these endless agonizing intense contractions, like the worst menstrual cramps and the worst diarrhea feeling. I felt my uterus squeezing and squeezing, and then it was like the squeezing squeezed upon itself and it was one big giant throbbing contraction as Emi was eased downwards. I remember feeling like the lower half of my body was having an internal convulsion, and thinking that it felt like being swept into an undertow. I pushed for about ten minutes—intense pressure, intense sensation. It reminded me of the time I was eight years old and slammed my finger in the car door: I wasn’t looking, so all I felt was this strange tingling and numbness and an electric sense of something being wrong, and when I looked and saw my finger, the pain hit me—and then she was out.” Andrea Buchanan, Philadelphia, Pennsylvania.

“Everyone talked about how the pushing was going to be difficult. But it was less bad to me. I liked having something to do.” Faulkner Fox, Durham, North Carolina.

“With my first, with an epidural, there was a whole team of irritated people standing around my spread legs counting for me to hold my breath and push. I felt so inadequate and helpless, like I was doing it all wrong and I couldn't even feel the pushing for God’s sake. I felt like a failed athlete. With my second, at home, it was the opposite. As long as I put my chin down, this strange grunting/growling noise came out of my throat and my body pushed HARD. It as totally involuntary, my body just did its thing. No counting, no holding breath, just chin down and shazzam. It hurt like hell but at least the pushing part took care of itself.” Hilary Flower, St Petersburg, Florida.

…when the baby crowns?

“It was like a blistering acid bath washing over my genitals that felt really good! like I was getting some place after seven hours of pushing.” Ayun Halliday, Brooklyn, New York.

…when you hold your baby for the first time?

“Holding the baby for the first time is like realizing someone was missing for your entire life and here they are.” Gwendolyn Gross, Ridgewood, New Jersey.

“It was so great. We didn’t know what he was. My husband was saying, ‘he’s a boy,’ in this kind of amazed way. Like he’s saying, ‘he’s a human being.’ He was so happy. It was kind of surreal. He handed him to me and his head was really pointy. The holding was all combined with the looking at. You have this relationship with someone that you can’t see. It is so amazing to see who was this person who I had this relationship with for so long.” Faulkner Fox, Durham, North Carolina.

…when you're recovering from labor?

“Honestly, I hadn’t understood that the days—and weeks—after the birth would be such a mess. Even though you know, abstractly, that you’ll need to get up in the night and nurse the baby and change its diaper, I think that most of us secretly picture sun-drenched days spent dressing the baby in one charming Swedish cotton outfit after another. Instead the baby is clothed haphazardly, if at all, because every 11 seconds you or the baby is drenched with poop (the baby’s), milk (yours), spit up (the baby’s), sweat (yours), blood (yours), or pee (this could be anybody’s). The things I was least prepared for was the sweating. You go to bed one night with your fat, swollen pregnancy ankles, and you wake up the next morning and the ankles are gone—but your pajamas and your sheets are soaked with sweat.” Catherine Newman, Amherst, Massachusetts

“It was like recovering from a mountain expedition, all that satisfaction of completion, all that pride, only the pictures are much better, someone’s waking you up every hour at night, and your blister-equivalents are in unmentionable places.” Gwendolyn Gross, Ridgewood, New Jersey.