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.



It has been a long time since I have published a post. Months. The longest since I began this blog.DSC_0361

Here are my excuses.

  1. Jacob has been doing great. This is the happiest reason to not publish. We haven’t been to the hospital since I can remember. If you are reading this, please shout hallelujah and knock on wood at the same time, just to cover all our bases.
  2. I have been doing lots of writing outside of this blog. I have the great fortune to be working as a freelance marketing coordinator for Big Sea. I can’t even tell you all how lucky I am to have stumbled into this job. I work for and with amazing people who live their values. If you need marketing services, you would be foolish to hire anyone else.
  3. I have a 13 month old at home. He’s walking. He has figured out how to open doors. I no longer sit down.

But, enough with the excuses. It’s time to ramp up this blog again, because it brings me great joy to talk about my little ray of sunshine, and because my mission – to become a resource for other citrullinemia parents – has not wavered.

Also, I know a whole heck of a lot more about blogging now. And I might as well put that to good use.


And here we are, in 2016. The year after the year of Jacob’s birth, looking back at so many firsts. First smile, first laugh, first tooth, first Christmas. We are a month and a day away from Jacob’s first birthday. Then we will begin to count in years instead of months, and the firsts, while still plentiful, will slowly dwindle, gradually supplanted by lasts. It is fitting, maybe, that firsts are marked, celebrated. They are an occasion. Whereas lasts happen unnoticed. When was the last time Jacob wore a newborn-sized outfit? I couldn’t tell you the day. The last time he rode in his infant car seat before we graduated to the big-boy seat? No idea. One day he will ask for his milk in a cup, and, just like that, I will know that he has had his last bottle. There will be a last morning nap, a last meal in the high chair, a last poopy diaper, a last game of peek-a-boo, on unremarkable days in an all-too-soon future.

So, hello, 2016. Nice to see you. Please stay awhile. I have a feeling that when you leave, you will take my chubby-thighed baby with you and I will find a walking, talking little boy in his place.


We have a tooth!

Actually, we’ve had a tooth for a couple weeks now, but the little bugger sticks out his tongue every time I try to show someone. While taking a selfie to send to Daddy at work, Jacob smiled so big that we actually caught the tooth on camera! Look closely – do you see it?IMG_0333

A letter to Jacob on his first day of high school

Today, the students at Shorecrest go back to school. If you had asked me last year, I would have predicted that, at this moment, Jacob would be in daycare and I would be standing in front of the classroom, overwhelmed by the barrage of new faces but excited about a whole year of possibility ahead of me.

But I’m not. And while I miss the nervous energy of that first day of school, I am also humbled by and grateful for the awesome new responsibility I have taken on – a responsibility now sleeping peacefully in his crib but soon to wake and loudly demand food, playtime, and love.

One day, Jacob will start high school, and I may be right there in the building with him greeting a new set of students (poor kid). Here is what I would like him to know on that day.

Dear Jacob,

As you are reading this, it is your first day of high school. But as I write, you are almost seven months old and sound asleep in your crib. I won’t even try to imagine the 14-year-old you – what you look like, what make you happy, what dreams you have – but I want to tell you what I know to be true at this moment that will still be true in 2029.

Just a few days ago, you figured out how to maneuver from sitting up to crawling and back again. I was so proud I couldn’t stop smiling. I don’t think it’s possible to be more proud of you, but I am willing to bet that time will prove me wrong. Jacob, everything you do is amazing to me. I want you to know that, no matter what the first day, or second day, or 263rd day of high school might bring, that will never change.

You just woke up, so I need to end this letter and go pick you up. I know that as soon as I walk in your nursery you will give me a huge smile and everything will be right with the world. Keep smiling, sweet pea.

Love, Mama

Clinic, and the surgery that wasn’t

This week was a busyJacob USF citrullinemia clinic one in Jacob world. Jacob turned six months old (!) this past Sunday, so it was time for his six-month clinic visit. We made the trek up to USF on Tuesday to check in with our dietician Erika and the metabolic geneticist Dr. S. Jacob charmed one and all with his sweet smiles, and even thanked Erika for her endless efforts on his behalf with a big hug. (I wasn’t quick enough with the camera, though, so in the photo he is looking at his daddy.)

Jacob clocked in at 20 lbs 10 oz and 28 inches long. Everyone was delighted to see that he was physically and developmentally on track. It was especially striking to me that he was just starting to babble at our last visit, and now he is sitting up and saying “Mama”! He is also grasping at anything and everything nowadays, which means it’s only a matter of time before he yanks out his Mic-Key button. In the picture you can see Justin trying to distract him from doing just that!

Jacob was very brave for his blood draw, which was sent off to the lab to check his ammonia levels, liver function, and Jacob USF citrullinemia clinicbranch chain amino acid levels, among other things. We are still waiting for those results.

At lunch after clinic, with a very tired Jacob sleeping in his stroller, Justin and I marveled over the genuine love that Dr. S. and Erika show towards Jacob. I don’t use that word lightly. They would – and have, and will – move mountains to keep him as healthy and thriving as he has been in the first six months of his life.

While at clinic, we also checked in with Dr. S. about procedures for Jacob’s surgery scheduled for Thursday August 6th. (Surgery, what?!?) When Jacob’s surgeon placed his g-tube on February 13th, he saw that Jacob had two inguinal hernias. We were advised at the time that we would need to have them surgically corrected sometime between 8 weeks and 6 months. Since Jacob had already been through so much, I opted to wait as long as possible and scheduled the surgery for August 6th. Because Jacob has a metabolic disorder, it is unsafe for him to fast, especially before undergoing anesthesia, so we had him admitted to the hospital on Wednesday night so that he could have IV fluids with dextrose while NPO. After a very uncomfortable night in a hospital “recliner,” (for me – Jacob slept great in his crib) we were ready for the surgery. Even though he must have been hungry, my little trooper was smiling, and then promptly fell asleep in his daddy’s arms in pre-op.

Our surgeon, Dr. R., came to check in with us, reassuring us that he had been texting with Dr. S. and that she had instructed him to take good care of “her baby.” As he went back for surgery, we were told to expect about an hour and a half, so we decided to grab a quick bite to eat to take our minds off of it all.

When we returned after an hour at lunch, we were quickly ushered back to post-op. The surgeon was waiting for us and, wait, was that a grin? And why was Jacob already out of surgery and happily gurgling in the arms of the post-op nurse? “Well,” said Dr. R., “this was an unusual situation. We went in with the camera, and there were no more inguinal hernias. They had healed up completely.” He went on to tell us that he had done hundreds of surgeries exactly like this, and this was the first time he had seen this happen. Moreover, one of his colleagues was literally writing a book on the topic, and had stated in the book that inguinal hernias never close by themselves. A quick internet search just moments ago resulted in the same information: “Inguinal hernias never go away without treatment.”

We have photos of the hernias from the first surgery, labeled with Jacob’s official hospital label and brought to us personally by the surgeon immediately after his surgery. And we have photos from today showing the same areas, completely closed.*

Explain that, science.

Jacob is my little miracle baby.

Jacob Tampa General Hopsital post-op

Jacob recovering from the surgery that wasn’t

Post Script: I absolutely adore the amazing people who work at Tampa General Hospital. In the last six months, we have been there once as outpatients and three times as inpatients, and every time we have been treated with kindness and respect by everyone we encountered. We couldn’t ask for better care for Jacob. Kudos to you, TGH.

Case in point, this charming tag they put on Jacob’s door today indicating his metabolic needs. Love.


*I may post these at a later date, but I am too worn out today to get up off the couch and scan something. #firstworldproblems.