My Brush with Galactosemia

The birth of my first child in 2003 was terribly traumatizing for me. I was completely unprepared for all the blood, the length of time it takes a vagina to open wide enough for a baby to pass through, and the word galactosemia.

I heard the word for the first time ten days after my daughter was born. A doctor I didn’t know called to tell me that a test from the hospital came back abnormal and I was to get another test as quickly as possible. She also told me I could be slowly poisoning my new baby with my breastmilk and to switch to soy formula immediately. Like within the hour.

As you can imagine, I was beside myself. I reached out for help from my midwife, my pediatrician, and my friends, many of whom were also new mothers and who had, I hoped, gotten the same scary phone call that later turned out to be nothing. My midwife and pediatrician sided with the doctor and told me to rent a breast pump until we could get things straightened out. None of my friends had ever gotten a similar phone call and none had ever heard of galactosemia. They did reassure me, though, that their cousin had a friend who had a baby with lactose intolerance and was doing fine.

Of course, lactose intolerance and galactosemia are not the same thing. Galactosemia is a rare metabolic disease characterized by the body’s inability to digest galactose, a sugar found in human and animal milk. The sugar builds up and becomes toxic in the blood, causing kidney damage, seizures, and death. If you identify galactosemia early enough, your baby will likely live but with serious complications like mental retardation, developmental delays, and infertility in girls. In fact, galactosemia is so devastating that almost all newborns in the United States are screened for it at birth, along with some other, equally horrifying diseases such as phenylketonuria (PKU) and congenital hypothyroidism.

In my gut, I knew my baby didn’t have galactosemia, but I had to do the right thing and switch my daughter cold turkey to soy formula and pray that after 24 hours or so I could go back to breastfeeding and everything would be right with the world again. I took my brand new baby out in the bitter cold and snow of February to the hospital where there are all of these people and all of these germs and got her heel pricked by a needle for a second time, and I cried right along with her.

When the 48-hour marked passed with no word from the hospital and the breast pump I rented from the corner pharmacy failed, I had a nice little meltdown on my living room floor. I was so angry that this was happening to us. Simultaneously, I felt guilty because there are parents out there who live with galactosemia or worse things like Down Syndrome every day, and they actually feel blessed! Here I was just borrowing galactosemia and I felt like the world was ending.

The hospital wound up losing the results of the second test, so we had to get the baby’s heel pricked a third time. While we were waiting for the results of the third test, the hospital found the second test which was also abnormal. That was when I started to feel pure unadulterated panic. I prayed like a child, and I promised myself that I was going to make eradicating galactosemia my life’s mission if it turned out my daughter didn’t have it.

The results of the third test came back closer to normal but the doctors still weren’t comfortable, so they sent us to the only pediatric metabolic geneticist in New Jersey where our precious baby, after having been pricked in the heel three f**king times already, now had to have blood drawn from a teeny tiny vein in her arm. My husband and I also had to have blood drawn.

We arrived at the geneticist’s office accompanied by every relative from both sides of our family. There were like 24 of us sitting in the waiting room. We all had print outs from the Internet, we all had questions, and we were all prepared to give up milk, cheese, yogurt, and ice cream for the rest of our lives should this new member of our family not ever be able to know how delicious they are.

We got through the visit with the geneticist, and then we were sent home for some more waiting. Every time the phone rang, my stomach would lurch. We were still getting cards and presents delivered every day, but there was little joy. Anxiety, fear and guilt reigned in those early weeks, and I felt robbed.

Finally, five weeks after the first phone call, we got the news we prayed for. Our daughter did not have galactosemia–she only carries the gene, which explained why the test results were wonky. My husband carries the gene as well, but I don’t, and so we opened our front door and kicked galactosemia out on its ass forever where it belongs.

My baby sadly never breastfed again, but I made up for it with my second child who had a milk protein allergy completely unrelated to galactosemia and breastfed until he was almost two, and my last who breastfed another 12 months. I can now say without any qualms at all that breastfeeding is the worst thing in the whole world and I don’t know why anyone does it (not really).

My daughter is turning 12 on February 1 and I never did make eradicating galactosemia my life’s mission, but I have donated several times to the Parents of Galactosemic Children, Inc., which has since been renamed the Galactosemia Foundation. They provide critical support to new families dealing with the heartbreaking challenges of galactosemia and network with professionals to inspire treatment and advanced research. I will be donating again this February 1. I hope you will consider donating, too. Here is a link.

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My First Bolognese

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I am so honored to be part of the monthly link up party Our Growing Edge, which was created by Genie De Wit at Bunny Eats Design to connect bloggers and inspire us to try new things. This month the event is hosted by food blogger Francesca at Fearless Kitchen. Hope you enjoy!

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I have a friend named Josephine who is eight feet tall and weighs 100 pounds. She is beautiful. The first thing you notice about her is her hair. It is long and lush and reminds me of a warm, safe place where as a child I’d hide. It’s also super curly but never has any frizz. It’s the hair I’ve always wanted but can’t have no matter how many products, specialized cuts or styling techniques I try.

The second thing you notice about her is how nice and sweet she is, and how totally unfazed she is by motherhood. I wish I could be half as carefree with my children as she seems.

Josephine is also 100% Italian. She speaks fluent Italian and vacations in Italy every year. To compare, I am part Italian, can say “parmigiano reggiano” with a killer Italian accent, and really enjoyed our recent getaway to Myrtle Beach.

Josephine’s husband, Loreto, is also 100% Italian and serves on our town’s Little League board along with my husband, who does not have any Italian blood whatsoever. Loreto recently invited all of the board members to his home for a meeting and “traditional Sunday gravy” made by his wife.

My husband was pretty psyched when he got the email, but that was nothing once he started eating. He began texting me.

“OMG the Sunday gravy is amazing :)”

Now, I’d like to point out that over the course of our 13 year marriage, I can count the number of times I have served my husband jarred tomato sauce on one hand. Because I am part Italian, I know how important it is to make homemade sauce, and years ago I was lucky enough to secure the recipe of Grandma Marionni, my friend’s Italian grandmother-in-law, and have made it so many times I now have it memorized. I have used it over and over again in countless lasagnas, baked zitis, and chicken parms. My husband is not deprived of authentic Italian cooking at all, so I guess I was a little surprised he was so impressed by Josephine’s gravy. But, whatever, I was just glad I didn’t have to cook for him that night, and also — how nice was it of her to cook for the entire Little League board? And right after the holidays???

Moments later, my husband sent me another text:

“Meatballs.”

Oh brother. Years ago, in a move to make us healthier, I started making meatballs from ground turkey. They are awesome, but my husband doesn’t agree. In his world, meatballs should be made of meat. From this one word text, it was clear to me that Josephine’s meatballs weren’t made of turkey.

Here were his other texts, one after another:

“Montepulciano wine.”

“Fresh grated pecorino cheese.”

“The gravy is really thick.”

“Josephine made it.”

Good grief. Ok, that does it. Right then and there, I resolved to make my non-Italian husband a real Sunday gravy with real meatballs. I consulted my Sopranos Family Cookbook and learned that I would have to obtain a meaty pork neck bone and run a can of peeled tomatoes through a food mill. Forget it.

My second idea was to make an authentic bolognese. I have never made one before. I mean, sometimes I will quickly cook a pound of ground turkey and add it to Grandma Marionni’s sauce right before the pasta is done and pretend it’s bolognese, but I know it’s not. A true bolognese is something I’ve always wanted to make, but never had a reason. Until now.

I contacted Grandma Marionni’s granddaughter-in-law for advice and she told me that Lidia Bastianich’s recipe was the best and that I was to not, under any circumstances, make the one from Giada.

Lidia’s recipe, entitled “Sugo alla Bolognese,” has 13 ingredients and takes three hours, but at least I don’t have to see or touch a pig’s meaty neck bone. I was pumped, so I purchased my ingredients and got to work:

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Step One: Saute the vegetables in olive oil.

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Step Two: Add beef and pork.

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Step Three: Add wine.

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Step Four: Add tomatoes and bay leaves.

IMG_3762Step Five: Cook for three hours, adding water every now and then so that the meat is always covered.

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Step Six: Mangia!

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Step Seven: Receive just as many compliments from my husband as Josephine, including my favorite, “This is restaurant quality.” I personally felt it needed more salt (Lidia doesn’t give exact amounts of salt; she says to salt things “lightly,” but her idea of “lightly” and my idea of “lightly” are, I think, two different things). Nevertheless, my husband didn’t seem to mind. I think he just loves to eat. And I wouldn’t have it any other way.

My Man and his Cold

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At the end of every year, my husband gets sick. Usually, it’s a cold. Sometimes it’s a stomach virus. But no matter what it is, he is convinced he is dying.

I’m not sure why he acts this way. I mean, no one likes getting sick. And yes, I get stressed worrying how I am going to continue meeting the needs of my family while operating on only one cylinder, but previous experience tells me my ailment will most likely be temporary and I can rest knowing that I’ll be serving drinks and cleaning urine from the toilet seat again in no time.

My husband, however, develops amnesia with each cold or virus he gets and forgets that they usually aren’t fatal. A nervous person by nature, my husband hits such high levels of anxiety when he is sick you would think he and he alone is responsible for the earth’s rotation.

This is what happens, in chronological order, when my husband’s throat gets a little scratchy:

1. “I feel something…”

This is the beginning stage of his illness and usually comes after one of our kids has been sick. It is a warning that soon he will fall like a moose that’s been shot from behind. Also, take a look at the calender. If it’s anywhere between January and November, his sickness probably won’t progress beyond this stage and as his wife, you can relax. If it’s December and you need him to help you get the house ready for Christmas, you better get ready because he’s going down.

2. “I can’t afford to get sick…”

My husband works from home and conducts most of his business over email. But a cold will cause his voice to sound slightly different, so clearly, this will cause him to lose thousands of dollars in deals.

3. “I’m burning up…”

He will claim to have a fever, and when I look at him, he might in fact look a little pale. After giving him a thermometer and confirming a body temperature of 97.4, however, I realize his pallor is being caused by panic and fear not by sickness.

4. “You think I’m faking don’t you?”

He gets angry at the thermometer, and demands that I stop laughing. He is not faking, he really does feel sick, and he can’t understand how it happened. He really, truly, does not know how a germ can invade his body, since he is not human but a Martian cyborg.

5. Elephants and fire ants

He will go to bed at sunset, roll over twice, and wake up 14 hours later complaining about how poorly he slept. He will turn to two analogies I have heard over and over again since we were married 13 years ago: “I feel like an elephant is sitting on my chest, and there are fire ants in my throat.” I cannot roll my eyes hard enough when he hits this phase, and suddenly the baseboards are screaming at me to clean them.

6. “Here is where I keep all the important documents.”

This is when I feel a little bad for laughing, because he will finally register a fever of 100.3 and officially be a sick person. He stops in his tracks, falls like the moose I described above, and prepares for death by sleeping all day for four days–on the couch, in the middle of everything. There could be an earthquake, a hurricane, and a newborn infant in the living room all at the same time but he won’t budge. As you might guess, this phase is my least favorite.

7. “What’s a doctor going to do?”

More elephants are sitting on his chest, the fire ants have built a full-fledged colony, and he is looking beyond me to the light glowing in the distance, so now I know I have to call the doctor. Except he argues with me because what he has is probably so rare and so serious there is no doctor in our area equipped to deal with it, so there is no point in going. Better to just die in peace at home on the couch, moaning.

8. “The doctor said I have a virus and need to take an antibiotic.”

Honey, that doesn’t make any sense. An antibiotic only kills bacteria.

9. More sleep

After he gets his antibiotics, I insist he relocate to our bedroom, where he will sleep so hard for so long it’s like he’s not even home. This is when I love his sickness. I will play annoying Top 40 music, order shoes from Zappos, and party like it’s 1999 and he won’t have any idea. A day or two later, he will finally emerge from our bedroom, kind of like a butterfly but much bigger and with a lot more body hair, and vow to embrace life to the fullest, because you never know when it will be over for good.

How to Handle a Tween Meltdown

So I am happy to report that I survived Christmas, but now it’s puberty trying to take me down. I guess it was right before Thanksgiving when my tween had the mother of all meltdowns and I was so glad because nothing is better than having to deal with a tween meltdown at the same time you are cooking dinner and the boys are having a swordfight in the living room. With maximum drama, my tween admitted she wasn’t happy and that she felt like something was missing. I was forced to abandon dinner, hide the swords from the boys and sit down with her on the floor in her bedroom to figure it all out. In between her gigantic sobs, I was able to ascertain that 90 percent of her meltdown was being caused by two things: hormones and the increased workload of middle school. As for the other 10 percent, five things in particular were bothering her, which are listed below along with my responses, in case you might need them someday:

I’m weird

You aren’t weird, you are fun, wonderfully refreshing, and interesting. Do you remember the other day your friend was here, and she was drinking chocolate milk? Do you remember her telling you that the only way she could drink chocolate milk was to lap it from the cup like a dog? So weird, right? Do you remember how you laughed? Our weirdness is what makes us fun to be around and helps us to relate to one another. I had a friend in college who would run up and down the hallways of our dorm singing a song about chicken patties whenever they were on the menu for lunch. If we aren’t weird we are boring and forgettable, and who wants that? Keep being weird, it’s awesome.

I’m too big

First, you aren’t too big, you’re just really really tall. Second, have you not listened to the lyrics of that Meghan Trainor song? Super skinny girls are actually at a disadvantage because they don’t have any junk in any place, right or wrong, and therefore don’t have anything to shake. I have seen plenty of skinny girls be overlooked for a slightly bigger one with a certain je ne sais quoi, or boom boom as Ms. Trainor puts it. Boys do like a little more booty to hold at night, but what she really means is that boys (or at least the good ones) adore girls who are real, eat food, and know the difference between longitude and latitude. There is so much more to you, or any girl, than your size. Having said that though, you really need to stop with the Nutella.

I don’t have a boyfriend

The reason you don’t have a boyfriend is because you are 11, which is like five but with six years added to it. Why are you in such a rush? Dating sucks. What’s the worse pain you’ve ever experienced? Knee surgery? Multiply that by a hundred million, and that’s how painful dating is. Back when I was dating, a guy who told me he would love me forever plunged his fist through my ribcage, ripped out my heart, and ate it like an apple right in front of me. And I wasn’t the only one–most of my girlfriends can share similar horror stories. Why do you want to do that to yourself before it’s time? Besides, no one knows what they are doing in the sixth grade; it’s all just really awkward and embarrassing. Stay out of it until high school. Or college. Or never.

I don’t have a best friend

Yes you do, she’s just flaky, because she is also 11. Honestly, sometimes I think it’s good not to be tied down to one girl. I had a best friend at your age but I was way too wrapped up in her, and as a result my world was a lot smaller than it should have been. It’s so much better for you to have lots of friends. It’s important that you don’t try too hard, either. You can’t force these things. And lots of times, your best friend will change. My best friend in high school was not my best friend in college, and my best friend now is not the same one I had when I had you. It’s all about attracting what you need at the time you need it. Trust in this–it’s actually a law of the universe and it’s usually correct.

I miss being six

Me too!! Do you know what else I miss? Eleven! And 40! This is such an important lesson for you to learn, and I’m glad you are learning it so early. Life goes by too fast, and there’s nothing we can do about it, so we have to treasure every single day. Hold onto 11 as long as you can, really soak it in, because before you know it you will be 12, and then 20, and then you will have your own kids and wonder what the heck happened as you deal with a tween meltdown, dinner, and a swordfight in the living room all at the same time.