Update: November 2019

I’m not sure if anyone is still following this blog – but I am sure that families of newly diagnosed kids probably come across it now and then. I thought an update might help as encouragement in those difficult days of diagnosis and uncertainty.

I just had Jacob’s first parent-teacher conference of his Junior Kindergarten school year yesterday. Jacob is 4 1/2 years old, turning 5 in February. He is curious, capable, charming and funny. He loves books, music, Spiderman, and making friends. He has weathered so much in his young life – but nothing seems to get in the way of his joyful and enthusiastic approach to life.

Jacob is now completely off of the metabolic formula and getting all of his calories from food. He’s picky like your average toddler, but his growth is right on track and his bloodwork indicates that he is healthy and well nourished. He even eats school lunch now and then, and his teachers are great about working with me on a google doc to keep track of his food. He also had his g tube removed this year (!), which was a long process that required two surgeries. He was actually reluctant to have it removed, but he seems to have completely forgotten about it at this point.

I have been working with his metabolic team to eliminate interventions, in the hopes that Jacob’s body can do most of the work to keep his brain safe and healthy. So far, he has responded well to all of them. All signs suggest that he will live a “normal” and healthy life until such time as there is a cure for citrullinemia – which I believe there will be!

Take a look at this adorable little man. I can’t even. He gives me all the feels.


What does Jacob eat? (An update)

IMG_0788You may remember from a post a few months ago that we were very excited to start Baby Led Weaning with Jacob. Since then, his food allowance has gone from .5 gram of protein a day to 3 grams of protein! (If you’re new to the blog, children with Citrullinemia are on a severely restricted protein diet. They must receive exactly the amount of protein their body can use – no more, no less. Too much or too little puts Jacob at risk of brain damage and coma, or worse.)

Like almost everything else in my parenthood journey thus far, our solid-introducing experience has not gone, shall we say, by the book.

Initially, Jacob seemed interested in playing with food, but as soon as a lump would hit his tongue he would vomit. Like clockwork. His little face would turn red, his eyes would water, and out would come the offending particle along with anything else that had entered his stomach in the last, oh, few hours. In that way, we lost quite a bit of formula and (horrors) breastmilk. Finally, I had to put a stop to it and introduce purees.  I dutifully went to the farmers market, purchased armfuls of gorgeous organic veggies, and set to making homemade purees, measuring each ingredient and using a spreadsheet to calculate grams of protein per serving – only to have Jacob reject over half of the options I offered him.

Finally, exhausted with the unappreciated effort of producing and measuring my child’s food, I went to store-bought organic purees. Tangential note #1: I recently managed to start a flamewar on the internet in a Facebook group about home organization when I indicated that I feed my child from packets.


Tangential note #2: There is no limit to the uses of this meme. Game of Thrones FTW. I’m geeking out here, people.

At any rate, store bought purees were a life saver. I could buy one flavor at a time, figure out which ones were his favorites, and go from there, introducing new tastes little by little. Since the protein content was indicated on the label, all I had to do was measure how much of the packet he actually ate. Purees, teething biscuits, and occasionally oatmeal have been the staple of Jacob’s diet for the last few months. (Behold below, the puree drawer image that started the internet flamewar.)

Until a few days ago, when Jacob’s little lips closed tight against the introduction of purees. Frustrated, I steamed up some purple cauliflower from the market, chopped it up, and dumped it on the tray. In it went. No vomiting, no fuss, just a happy eating baby. Carrots! Grapes! (Peeled and quartered! Don’t arrest me, mom police!) Cheerios! All happily consumed!


I am finding that Jacob is now eating less, and slower – which means we may need to temporarily adjust down his protein allowance and make up for it by reintroducing natural protein into his milk. But I am so happy to see him begin to practice those fine motor skills and tolerate textures!

I also need to correct an earlier assumption of mine – that Jacob would be vegan. In a conversation with Erika yesterday, I learned that many children with citrullinemia will eat cheese and other dairy products as their protein allowance increases with age. These complete proteins are good sources of nutrition for UCD kids. I have to tell you something she said because the image is so beautiful in my mind. “It will be easier for Jacob to be a vegetarian than a vegan. You know, when he is a teenager and goes to a restaurant with his friends, he can always order a cheese quesadilla and be on his way, rather than having to search out a vegan option.” Can you imagine? Jacob? A teenager? In a restaurant with friends? Ordering a quesadilla? It is so normal and beautiful. Isn’t that what we all want for our children?

Four Month Pumpiversary

I have now been exclusively pumping for a little over four months. That means that I have hooked myself up to my pump about 850 times, and have spent approximately 220 hours or nearly 9 solid days attached to my trusty Medela Symphony. It also means that I have earned this awesome award…


Do I think about quitting? Yes, all the time. I fantasize about throwing my pump off the Sunshine Skyway Bridge bringing my pump back to Walgreens and being done with it. I am still angry that citrullinemia stole my nursing relationship with my baby. Some days I can’t stand the thought of washing and sanitizing yet another bin full of bottles and pump parts. The reason that I keep attaching myself to the pump day after day is complex. Yes, it’s love, but it’s also pride, determination, and I imagine a healthy dose of biological imperative. At the end of the day, I have this sweet face (and those chubby thighs, nom nom) to show for it. And so I keep marching on.*

*Figuratively, of course. The cord on the pump is only a few feet long so I can’t really march very far 😉

Clinic: Tuesday April 14, 2015

Jacob had his first clinic visit today. Here are the highlights.

We got to see our favorite dietician for the first time in nearly two months. Erika adjusted his formula recipe again to help him keep up his impressive growth. Jacob weighs over 13 pounds now!

Justin and I also met with a genetic counselor to talk about Jacob’s particular mutations and their implications for our future family planning. With a natural conception, we would have a 25% chance of having a child with citrullinemia, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is completely unaffected. When we are ready to talk about another baby, it will be important for us to be armed with our genetic information so that we can conduct prenatal screening. There is an option to use IVF to eliminate the possibility of having an affected child by implanting only unaffected embryos. This is a great option for some families, but I personally couldn’t do it. Discarding the embryos with citrullinemia would feel like throwing away potential Jacobs.  However, I would want to have prenatal testing done so that, if necessary, we could begin to treat right away rather than wait for the newborn screening results.

Finally, we saw Dr. S, who was pleased with Jacob’s progress so far. However, we will have to wait a few days for the results from the ammonia test and amino acid panel, which are the numbers that will tell us more definitively where Jacob stands metabolically. It is still too early to tell whether Jacob has a mild or moderate case. Dr. S feels fairly confident that his case is not severe, because he would already have experienced a metabolic decompensation. We do need to remember, however, that the first year is sometimes easier for a child with a urea cycle disorder. Dr. S called it the “honeymoon period.” They grow so rapidly that their bodies are using the proteins before they have a chance to become toxic. When Jacob’s growth rate slows, his tolerance for natural protein may diminish. In other words, this is not a predictable disorder. We are thankful that Jacob is healthy today, and we will leave tomorrow in God’s hands.

Jacob taught me to take the plank out of my eye

“Why do you look at the speck of sawdust in your brother’s eye and pay no attention to the plank in your own eye? How can you say to your brother, ‘Let me take the speck out of your eye,’ when all the time there is a plank in your own eye? You hypocrite, first take the plank out of your own eye, and then you will see clearly to remove the speck from your brother’s eye.” (Matthew 7:3-5)

Bet you didn’t know that Jesus had a snarky side. I love the hyperbole in this scripture. And it’s been in my mind lately because I have been thinking about judgement. I guess this is something that new parents do, especially because there are so many vehement opinions out there about the “right” way to raise a baby. Even though, like this author, I am fairly confident that that there is no “right” way, I still find myself wondering if, in the eyes of the world, I’m a good mom.

After Justin and I decided that my staying home was Jacob’s best chance for a healthy start in life, I signed up for WIC to help cover the costs of his formula and offset our grocery bill. The first time I used my WIC EBT card at Publix, I had some trouble with the transaction. There were several people in line behind me, and I ended up having to suspend my transaction and call the WIC hotline to reset my PIN number. I imagined what people were thinking. “If she can’t afford to feed her family, why did she have a baby?” or “Why are my tax dollars going towards food benefits for a young woman who obviously could work if she wanted to?” or “I wish there were a separate line for people on food stamps.” They had no way of knowing about Jacob’s citrullinemia, or that I have been working since I was sixteen and faithfully paying my taxes just like them. That this is just a bump in the road.

It’s the same thing with formula feeding. Before Jacob, I assumed that parents of formula-fed babies were lazy, or ignorant, or both. Now I have a little boy who is partially formula-fed because that is the only way to keep him healthy. When I give Jacob a bottle in public, I wonder who is sitting in silent judgement, thinking that I don’t care enough to breastfeed my son. When the reality is that I am giving up hours every day to pump so that I can give him as much breastmilk as his little body can process.

Maybe I’m wrong. Maybe nobody is thinking those things. But I will admit that thoughts like those have crossed my mind once or twice, and I suspect that I am not the only one. The fact is, we can’t know what is going on in people’s lives. So maybe it’s best to approach everyone from a place of compassion. Of course, people could take advantage of programs like WIC or might formula-feed for the wrong reasons. But how much better and kinder would the world be if we all gave each other the benefit of the doubt before judging? If we all first dealt with the planks in our own eyes?

And now, an only tangentially related photo of the sweet boy who helped me to learn this lesson:

smiling baby

My Two Cents: Baby Bottles

baby bottle Breastflow First Years

Look Mommy, I’m using my hands!

First of all, fun history teacher fact. People were bottle feeding their children four thousand years ago! Of course, at the time there weren’t many bottle options. Today, there are 4000 options. I am easily overwhelmed with that many choices–you should see me in the dish soap aisle at Publix–so you should be very impressed that I was able to decide on five bottles to try. So, voila, my two cents on five brands of baby bottles. For each one, I will mention the price (important) and the number of pieces you have to wash between each feeding (even more important).

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