It ain't easy being cheesy!...OR...Say cheese!...OR...The adventures of Coulby and the twisted cheese curls!

Cheese curls are not my thing. I am more of a Cheetos girl. But that does not matter when Coulby is in a cheese curls phase. 'Cheese curls phase' = Coulby WILLINGLY eating excessive amounts of cheese curls. And this means that he is getting not only protein to easily help meet his daily protein requirements, but also all of the calories that cheese curls have to offer...which are a lot. Coulby liking cheese curls makes life a lot easier because we have a sure thing to feed him that makes the job of meeting his dietary needs easier. MUCH easier, truth be told.



And these are no ordinary cheese curls. They are TWISTED cheese curls. These spiral things that look cool and take up a lot of room in the bag to make it look full even though it is not (one of the most annoying things about any bag of chips, really). 28g of cheese curls = 1.8g of protein and 160 calories. Coulby can eat about 75g or so in one sitting...about 429 calories! *Gasp* Guess most parents would be horrified that their child was consuming that many calories from cheese curls. But not parents of children with UCDs. The more calories the better. Kind of a foreign concept in this world of over-consumption and gluttony.



Not only does Coulby love cheese curls...twisted...but he makes sure he gets every last little bit of cheesy coating at the bottom of the bag. Kinda gross, but whatever works. Hence the above photo. That was Coulby post-empty-cheese-curl-bag. He had this cheesy beard and mustache going on that, while disgusting, was also very photo-worthy. I did not capture it well enough to do it justice, but the cheese was coated on his face, fingers and body pretty good. I could not be happier that there is something that I KNOW he will eat if nothing else. Until he gets tired of the twisted cheese curls, they will stock the pantry shelves.



On another note, Coulby had a Hopkins appointment yesterday. And his ammonia was...(drum roll)...29!! Yay! A number we can work with for sure! He has gained weight (thanks to twisted cheese curls, no doubt) and had an overall good check-up. Good news is always nice to report. A relief. A reminder of Coulby's miraculous life.

This topsy-turvy, unpredictable kind of life...

A year goes by and I begin to forget all of the implications of his disorder. A year TO.THE.DAY. February 26. I should always expect that slap back into reality. Because I know he is always one metabolic episode away from hyperammonemia (elevated levels of ammonia that can cause brain damage), hospitalization, coma and even death. Just the slightest inconsistency and Coulby can be thrown into a cyclonic downward metabolic spiral.

But it is so easy to slip into that comfort zone. That state of loosening up just a little because Coulby has been doing so well and staying so metabolically stable. The initial days following hospitalizations are always the most tense and those in which I am most hyper-sensitive to everything Coulby is doing, saying, eating...anything. When he gets back to baseline I feel myself relax just a little. And the more time that goes by without issue, the more I relax and the easier it is to suppress the horrors of his disorder. How could we have a normal family life if we were always lying in wait for the next illness? The next metabolic instability? The next hospitalization? So I allow myself to live just a little. For Coulby and for my own sanity. And then...BAM! Back to the hospital.

This time it came on suddenly. Coulby went to school on Thursday morning, had a good day, ate his lunch with no issues, did not complain of not feeling well. Came home and spent that evening running around with Caroline shrieking and playing. Nothing unusual. But he did not want to eat his chicken nuggets. First indicator that something might be wrong. He had been scarfing those things down, drenched in ranch dressing, for the last week or so. He actually started crying after the plate was put in front of him, almost as if it pained him to think of eating anything. Second indicator. We decided it was easier to just let Coulby drink milk that night to meet his protein needs. That is when he started holding his stomach. Third indicator. He said he had a little stomachache. Nothing came of it and he drank his milk and went to bed.

Coulby woke up crying not long after he had gone to bed. We found him sitting in his bed where he had been rudely awoken by the earlier stomachache and thrown up. Aside from crying, Coulby seemed to have recovered without issue, which is always a good thing with his disorder. He was alert and responsive. His eyes were clear and not glassy. I stripped the bed while my husband took Coulby into the bathroom to get him washed off. Coulby spent the night in the bed with my husband, who said he woke up whimpering and then throwing up about every hour. It is detrimental to Coulby's metabolic stability if he loses too much fluid and/or calories. He was vomiting so much that we were not able to replenish what he was losing, and by morning we were packing him up to take him to Hopkins for an inevitable admission.

I drove, well above the speed limit and in a daze, my instincts on overdrive, to get Coulby to the hospital. Getting through Baltimore city traffic is always tough, and then I practically had to drive to the top of the parking deck to get a parking spot. A very narrow parking spot at that. It was like trying to squeeze into a pair of jeans that are one size too small! Imagine trying to get my stuff out of the car PLUS Coulby, who at that point was in bad shape and needing to be carried. All 45+ pounds of him! It took some fancy maneuvering, let me tell you. And if it had not been such a crisis situation, I might have actually found it comical. But I made it through the hospital to the ER and got enough of a workout to last the next month.

Hopkins is notorious for dragging their feet when we bring Coulby to the ER. You would think that a child who requires immediate care with the risk of elevated ammonia and brain damage would have a specific, individual protocol. But they follow a standardized protocol and it usually takes too long to get Coulby into a room, to get an IV in him, get bloodwork and to get fluids and medicine running into the IV. This time I was surprised that they got him into a room so quickly, but the events following negated their speed in doing so. (Elaboration to come.)

I knew that Coulby was fading fast and that his ammonia must be elevated, I just did not know by how much. He was not responding to anything I said and his eyes took on a glassy look. He started getting lethargic. Despite this, if any of the hospital staff touched him or he heard any of the familiar noises only a hospital can boast, he became very agitated. Aggressive in a way that I had never, ever witnessed him before. He was kicking, flailing, scratching, pinching and biting. He drew blood scratching the nurse (a small victory for him for all of the times he had been pinned down and poked and prodded by nurses), and I restrained him with my arms and legs and tried soothing him by talking to him. He bit down on my arm with the full force of his jaw. If I had not been able to pull my arm away, he would have broken skin. It was startling to have him bite me. So upsetting because I knew it was not like Coulby at all and because when I talked to him, he looked right at me with no recognition in his eyes. Do you know how heartbreaking it is to have your own child look at you and not know who you are? It is devastating. Frightening beyond all comprehension. One of the worst things I have ever experienced in my life, and something I hope to never have to experience again. Something I will never forget no matter how much time passes or how hard I try. I felt the tears welling up in my eyes and could not help crying about it. But only for a moment. A brief moment. Because I could not focus on my emotions right then. They were secondary to getting Coulby the care he so desperately needed.

The series of events in the ER had a snowball effect. The ER does not stock the correct formula of fluids that Coulby needs to flush out the toxins, hydrate him and replenish calories. So they had to start by using what they had. His ammonia came back at 317!! 317! Normal is 0-32, for those of you who are not familiar. Ammonia is toxic. 317 is startling. Scary. Threatening. It is crucial to get ammunol running into the IV to bring that number down into normal range. The doc wrote a script for the ammunol, but made the biggest error in judgment by listening to the pharmacy and changing the script as they told her it needed to be filled. We have learned the hard way to NEVER trust the pharmacy. Check. Double check. TRIPLE check everything! Guess each doctor has to learn this in his own time as well. But Coulby always suffers at the expense of these errors.


So the ammunol was FINALLY delivered and started hours after arriving in the ER, but was stopped only after 15 minutes of being administered. Coulby was still sound asleep and I knew he had to have that ammunol. The doctor explained to me that the ammunol administered was too concentrated and that it should have been filled in a 1L container to administer the proper ratio. Human error. Inexcusable. We are dealing with Coulby's brain! So the wait was on for the new 1L container of ammunol. Each minute seemed like an hour. And then it arrived! That glass bottle of liquid gold! The nurse brought it into the room and prepared to hang it and then it happened. The icing on the cake. I watched in horror as she lost her grip on the GLASS bottle with Coulby's lifeline. It fell out of her hands in slow motion and shattered on the floor into a million pieces. If I could have screamed I would have. I looked at the floor with the ammunol my baby so needed to be running into his veins and just stared. The smell hit me. Everyone calls it "stinky meds." It is said to smell like rotten egg with a bitter sweet scent mixed in. I am immune. I smell it on Coulby every day. When he sweats. When he has sipped from my cup. On his clothes. It is his scent. I kind of like it, actually.


My eyes welled up again. Not so much because I was sad, but because after everything that had happened that day, this was the last thing I could handle. I wanted to cry in frustration. Then I felt the anger boiling up inside of me. I said nothing. I sat there in utter shock and kept my mouth shut. Until the doctor strolled into the room. Coulby's dietitian, always in his corner, just happened to come in then as well. And I laid it out. I went off. I let all of the anger and frustration and fear and hurt come out. Goodbye to nice me. It takes a lot to make me mean. To get me mad enough to release it all. But it was too much. Too much had gone wrong. Too much time had passed between our arrival and the medicine being started. Too many people were more than willing to gamble with my son's mental capacity. And someone had to take responsibility for it all. The doctor stared at me, speechless. When I felt a little better, I left Coulby guarded by his dietitian, one of the only people at Hopkins that I would ever trust with my son. I took some deep breaths, called my hubby, who always fights beside me, and vented.

We spent the whole day in the ER. Coulby slept the entire day away. He would occasionally wake, whimpering if anyone touched him, but I use the term "wake" very loosely. His eyes did not open. He did not respond to my voice. He just whimpered. It was scary. Seeing him lying there, hooked up to the IV and looking so small in the hospital bed, completely out of it. I had not heard Coulby's voice since 8:30 Friday morning. I had not seen his eyes open with recognition since we had arrived at Hopkins.

It was literally 8:30 p.m. before Coulby was transferred to the PCRU (the floor on which he has always been treated during hyperammonemic episodes). Nothing really woke him or caused him to stir. I watched him a lot that night. I missed hearing his voice. I missed the noise of my rough and tumble little boy. I missed seeing the life in his eyes. And then, some time in the wee hours of the morning, Coulby stirred and sat up. His eyes were still mostly closed, but he was aware of his surroundings, although confused by them. He responded to my voice! And when he finally opened his eyes, he recognized me! And the first thing he said to me in almost 12 hours was, "I need to go potty!"

Coulby's recovery started at that point. He started talking a little more and asking questions. A whole day of his life was completely wiped out of his memory. I wish I could erase some of the horrors of the ER from my mind. They will haunt me forever, perhaps faded, but never erased.

Mentioning any of the other disappointments or discrepancies of Coulby's hospital stay and care would really serve no purpose other than to convey my lack of trust in the inner workings of the medical world. Most important is that he recovered from an ammonia of 317 with all Coulbyisms intact; a spirit unbroken by all that most deem unfair for a child to have to experience. Final ammonia prior to discharge, after spending just shy of 4 full days in the hospital, was 33!!

So we settle back in to our life at home, walking on ice for the first several days to make sure Coulby improves his protein and caloric intake each day. The thought is always in the back of our minds: what if he ends up right back at Hopkins? It is stressful, but not as much so as being in the confines of the hospital. When the dust settles and each day seems more and more normal, it is inevitable that I will slip into the comforts of our daily routine. I will let myself relax and live just a little. If I can remind myself to keep the memories of this hospitalization fresh, maybe, just maybe, it will not be such a slap when Coulby has another metabolic episode. Hopefully it will be another good year (although I hope even longer) before I feel that sting on my face.

Getting into the Groove...

...literally and figuratively speaking! My blog has kind of fallen by the wayside lately. Giving in to being lazy and putting it off are the only excuses I have for my lag between posts. But here I am! Back again! And really, I do not have anything new and exciting to report...which is always good in our UCD life. I like it boring. I like it monotonous. I like saying, "Nothing," when someone asks what is new. It means Coulby is healthy, stable and, most importantly, home.

Coulby is having a great Winter (knock on wood!). While he has brought home colds and nasty viruses accompanied by fever, and one VERY persistent virus that he so graciously passed on to all of us, he has been metabolically stable. *Celebrate!*

Coulby's last several Hopkins appointments have gone well and yielded nice, low ammonias and fairly stable amino acids. A few minor adjustments to his diet and medication and he has been good to go. We have been managing to get all required protein and calories into him each day without too much of a struggle. Because we increased the one medication a little bit, Coulby can really taste more medication than formula now, and lets us know it. He will very firmly tell us, "I hate my formula because it tastes nasty!" It makes me feel badly because I know how awful it is, and I do not want to give him something so gross, but he has to have it. There is nothing I can do but tell him that I am sorry he has to drink it, but it keeps him healthy and home. Coulby seems to get that.

Coulby is doing well in Kindergarten, although he has a VERY short attention span and LOTS of energy. It makes it difficult for him to complete every task and stay focused. He loves going to school though. He is disappointed on the weekends when he asks if it is a school day and I say no. I get the, "Ohhhh, nuts!" A Coulbyism. I like that he is excited about school...how long will that excitement last? I do not think he will be getting on the bus to go to high school so happily and willingly.

So things here have been fairly quiet...not literally. Two kids can make a lot more noise than I ever imagined. Especially a brother and sister quarrelling! We have more and more of that in our house. I feel like I should be wearing black and white with a whistle around my neck! But when Coulby and Caroline play well together, it is so much fun to watch and hear. Their make-believe worlds sound like a great escape from reality.

Now that I am back in the world of blogging, I am going to make it a point to post more regularly. (Do you hear that, Mindy?) My main goal behind establishing my blog was to educate those unfamiliar with UCDs. To raise an awareness by telling Coulby's story. And I still believe in that. So look for more posts soon. Until then...

Splashing into summer!

I love the smell of sunscreen! Not so much because of how it smells, but more for what it stands for: Summer. Sunshine. Days spent outdoors. Fun! And I love the benefits of sunscreen, too, although I think I appreciate those much more now that I am older than I ever did growing up.

It used to be cool to fry your skin in the sun to sport the best tan. Guess lots of us are not thinking it is so cool now that the sun spots have started popping out and the wrinkles are making their premature presence on our faces. But I have gotten away from myself. I really do love the smell of sunscreen, as well as all of the other classic smells of summer.

We have kicked off our summer by investing in a pool. Nothing fancy, just an Intex 18' above-ground pool. It seems like a good starter pool, and it is a good way to see if we get enough use out of it to invest in a nicer one. So far we have been swimming every day, so I guess we are on our way to bigger and better things in our future! The kids have loved it, especially Coulby, who is learning to swim with the help of a life vest. And what a great life vest! It is the perfect way for Coulby to be able to swim on his own without all of the safety risks. Now that does not mean I do not get in the pool with him. Of course I do. But it has really been great because he can stay afloat on his own and learn the basics of using his arms and feet to swim. Caroline has her own life vest as well, but is not quite as confident as her big brother, and mostly likes for me to hold her and walk around the perimeter of the pool with her.

Making the decision to buy the pool was tough because I was very nervous about having a pool with all of the risks it would pose to the kids. We really thought about it before we took the plunge (ha.). We invested in chain locks for all of the doors in the house so that there would be absolutely no way for Coulby or Caroline to slip outside to the pool unattended. It has been an easy adjustment to get used to all of the locks, although I do feel like we are living in some sort of compound. Now my nightly routine consists of locking the bolts and locking the chains x 4!

So the pool has been the highlight of the summer so far, but we have so much to look forward to! I do not know how the time has slipped away so quickly already, but the 4th of July is almost here, and that is always one of my favorite holidays to celebrate. It is such a classic summertime celebration, full of patriotism, good food and, most importantly, friends and family. I will be attending a family reunion at the end of July in Nashville, which will also be Caroline's first road trip. Right after that is our long anticipated beach vacation! And I guess after that the summer is basically over. Boo. We will be doing a lot of other little things here and there (like zoo trips, aquarium trips, lake trips, and get-togethers with friends). I just love the limitless possibilities of summer!

On another note, Coulby had a Hopkins appointment last Friday and we got to see our dear friends the Mooney's while we were there! Coulby and Corrigan had the hard job of enduring blood draws, but it was nice to share an appointment day. Both boys grew and pleased their geneticist and dietitian, which is always the goal! Coulby's ammonia was great at 26, although his amino acids revealed numbers that were a little too high, so we have set him back on track by decreasing his protein by the slightest bit. Coulby seems to be doing well, and overall, he had a great appointment. The high amino acids mean nothing more than a growth spurt that has come to an end, so nothing to worry about. It seems that the sun and swimming has agreed with him!

I hope you are all having a fantastic summer and getting into lots of fun! And don't forget the sunscreen! Oh that sweet smell!

My boy

Before I laid down to sleep last night, I talked to my husband, who told me that Coulby's ammonia was at 33 (woo hoo!), but his temp. was back up to 103 (boo!). He was awaiting a dose of Motrin. You would not think it would involve all that much to get a dose of Motrin into a kid with such a high fever, but when you are in the hospital, such a simple thing can take, literally, HOURS! You know, the order has to be written for the Motrin, then has to be sent on to be filled, then it goes through several more hands before it finally makes it into Coulby's mouth. It can be extremely frustrating! Unfortunately, as parents, we have no pull in speeding up the process.

Coulby arrived at Hopkins yesterday morning and did not actually get placed in a room until 7:30pm! I wish someone could tell me what takes so long! Especially when, at 3:30, my husband was told that Coulby would get into a room in an hour and a half. Then, around 4:45, it was that he would be in the room in another hour. No, you do not need a refresher math course-it just does not add up! AND Coulby went 2 hours not being hooked up to the IV fluids! Not good for a metabolic patient with a temp. of 103! Who dropped the ball there?? During all of this, Coulby's formula was supposed to be mixed and ready for him when he arrived at the PCRU (the floor on which he spends his hospitalizations). The orders for the formula had been written up around 4:00. Because things were not running smoothly in the ER (and yes, this is Hopkins we are talking about), the doc did not want anything more to be done for Coulby until he was at the PCRU. He wanted to ensure that things would run more smoothly and be done in a more efficient manner than had been in the ER. Coulby was due to get (2) 3 oz. doses of formula with meds. before bed time. This would make sure that he had some medication on board, since he was not getting them through IV.

So, when Coulby got to the PCRU (at 7:30, remember), there was no sign of Coulby's formula, and still no Motrin. By 8:37pm, Coulby still had not received any formula, and was ready for bed. There would be no way he would get 2 doses in before he fell asleep! I did not know what to do, so I called Coulby's dietitian at home. Not something I normally do. She had to call the PCRU to get them moving and figure out what had happened to Coulby's formula that she had ordered to be mixed. And then, miraculously, they found it! Coulby finally got his Motrin, which did in fact keep the fever down throughout the night. But the disappearing formula was re-mixed and Coulby was given one dose before bed. At least he got some of his medication on board.

The story continues...while in the ER, Coulby had a blood draw, from which they took a sample of blood to be cultured. This would help determine what Coulby was fighting and why he kept getting a fever. The nurses at the PCRU informed my husband that they would be taking a sample of blood to be cultured. Confused, my husband said this had already been done in the ER. There was no record of this! After some confusion, the blood was found--sitting in the ER! It had never been sent to be cultured. After solving yet another mystery, the blood was then sent off to its original destination to be cultured.

If you are confused, you can imagine how confused we have been! There are so many little things that seem to always happen when Coulby is at the hospital, and it is exhausting because we cannot let our guard down for a second! We learned that early on. But I would think that Hopkins, of all places, would have a much more efficient way of running things. As Coulby's dietitian said, they (they=those who dropped the ball with his formula AND kept Coulby off of IV fluids for 2 hours while in the ER!) need to get themselves together because they are compromising Coulby's metabolic health! He cannot afford to be the victim of such dumb mistakes. It really is frightening. The whole situation.

As of this morning, Coulby seemed to be himself, despite the hospitalization and the lack of sleep last night. It is kind of hard to sleep with people coming in and out of the room all night long. But his temp. had started to go back up at 99.1. His ammonia, on the other hand, was at 26! Some good news! The verdict is that Coulby can go home today as long as he can eat and drink AND keep it down. Ideally he will get about half of his normal protein intake. When I got off of the phone, Coulby had finished his formula (although it took him a little while), had several bites of Rice Krispies, and had drank several ounces of milk. Not great, but a start.

I will be heading to the hospital around noon if Coulby needs to stay another night. I am praying that he will find his appetite long enough to be cleared to come home. I think he would be much more comfortable here, surrounded by his family...and of course, his trains!

I am sure he would love any words of encouragement, so feel free to comment! I will pass them along to my little trooper!

News from Hopkins...

Coulby will be spending the night at the hospital. I knew he was not feeling well from the second that he first woke up this morning just by looking at his face. On the way out the door to head to Hopkins, he was in decent spirits despite a temp. of 101. Coulby was still chatty and walking around and being his cute little self. But the fact that he had a fever again, after just coming off of an illness, bothered me enough to think he needed to have blood drawn and his ammonia checked.

Coulby arrived at the hospital with daddy, waited around for someone to finally draw his blood, and then had to wait some more to get the ammonia results. (Same old Hopkins routine every time.) In the meantime, his temp. had reached 103, so the Motrin clearly was not doing the trick to bring the fever down. They gave him some Tylenol (which, by the way, we NEVER give him because of the potential liver damage it can cause...he does not need anything else going on with his liver!), and that brought his temp. back down to normal after a little while.

While waiting for results of Coulby's ammonia, my nerves started to get the best of me, so when the phone rang and it was my husband calling, my heart started pounding a mile a minute! His ammonia: a grand 45!! I was relieved, to say the least. The doctors were going to let Coulby come home after about 6 hours of being hooked up to IV fluids (to hydrate him and get some calories into his body), and as long as he could eat something and drink his medicated formula. He downed a bag of Fritos, drank his drink, and then proceeded to throw up! A set back for sure.

I know that Coulby had been complaining about his stomach hurting since this morning, although he did not seem sick to his stomach at all. But he is the kind of kid who does not want to eat a thing when he is really not feeling well, and I think the Fritos and formula were just a little too much for his tummy. It was too late, though, because the docs agreed that Coulby should stay for at least the next 24 hours to continue to receive fluids and calories. They worried that we would not be able to get anything into him if he came home. It was a bummer for us, but I know it is what Coulby needs right now.

I will stay home with Caroline tonight while Coulby has his daddy by his side for comfort, and then (Heaven forbid) if he is there for another night, we will switch. It is always a balancing act. And these times can be very stressful, so please say some prayers for everyone, but especially Coulby.

I will be spending my night in a state of partial sleep, waiting for the Hopkins updates from my hubby. And I will be kneeling and praying for my brave boy. The house is definitely way too quiet without him!

Balancing Act

So I have never been one to blog, but I finally felt like blogging might be the answer to educating people about Urea Cycle Disorders. Why would I want to do this? Because I live a Citrulllinemia life. Well, not me specifically, but as the parent of a 4.5 year old with a chronic metabolic disorder, I live the life of caretaker, with one object: to maintain the balance.

My story starts without too much excitement...well, maybe it is kind of exciting, considering I started my marriage with the excitement of the coming new year just over 6 years ago. Yup, I was crazy enough to want to get married on 12/31. And you know what? It was a BLAST!! People still talk about it. The party of a lifetime! I digress...I married my high school sweetheart just over 6 years ago. We have had a happy marriage, balancing the normal upkeep of a healthy marriage, a crazy work schedule (his!), and eventually, the priceless chaos that two adorable children add to our lives. It has always seemed that life has been perfect for us. Everything has fallen in to place easily. We have not had to struggle for much. Our marriage is happy. We have a boy and a girl-the best of both worlds. P-E-R-F-E-C-T. But how boring would life be if it was perfect? Right?

I became pregnant easily when we had been married for about 7 months. We did not waste time! I had the epitome of the perfect (there is that word again!) pregnancy. Our son decided not to make his entrance into this world until he was good and ready, which just happened to be on his daddy's birthday! 1 in 365 chance...what are the odds of that? I guess it happens, but we just thought that was the coolest thing. What a birthday present! I have never outdone it, as you can imagine. Coulby Patrick was a big boy, weighing in at 8 lbs. 1.5 oz. He was healthy and beautiful and his daddy's pride and joy from the moment he was born.

We settled in to our new life as a family of 3, and went through the usual uncertainties of being new parents. Despite our inexperience, at 4 days old, Coulby seemed to be doing just fine, doing all of the things newborns do. Crying, sleeping, eating, pooping...the norm. Nothing unusual. So when we received a phone call from the pediatrician's office alerting us that Coulby's newborn screen had yielded some alarming results, we were both in shock. We were told to take him to Johns Hopkins ER immediately. "They" would be waiting for us. We asked questions, and the only thing the pediatrician seemed to be able to tell us was that the situation could be life threatening. No directions to the hospital. No explanations as to what these numbers might mean. Nothing.

That began our Citrullinemia story. We somehow made it to Hopkins, although for the life of me I could not tell you how. I barely remember riding there. I was numb. We arrived, and sure enough, "they" were waiting for us. "They" turned out to be genetic doctors, as well as a slew of nurses and other assorted people. Coulby had to have blood work done, and an IV put in his tiny arm, his 4-day-old arm, which apparently had teeny tiny veins, because he was poked about 10 or so times before they finally got the IV in successfully. He screamed. We cried. It was the most helpless feeling I have ever felt in my entire life. That night someone found us a room in the hospital so we could get some sleep. Actually, it was more like a utility closet with 2 twin beds squeezed from wall to wall. My husband and I could not even sleep in the same bed that night, to comfort each other and ease each other's fears. We held hands between the beds and prayed. Hard.

When we woke up the next morning and realized the entire night before had not been a dream, we went to be with our baby and find out what was going on. It was confirmed that Coulby's initial newborn screen had yielded accurate results, which meant a diagnosis of a rare metabolic disorder, more specifically, a urea cycle disorder, called Citrullinemia. Huh? That is what we thought, too. It was scary and foreign to us. We sat down at a large conference-type table surrounded by genetic doctors, our two sets of parents, and other people I do not recall. We were educated on what Citrullinemia is, what it meant for our son, and what it would mean for us.

Citrullinemia is a urea cycle disorder in which the body is unable to break down excess protein. This can lead to a toxic build up of ammonia in the body, also known as hyperammonemia. At such toxic levels, hyperammonemia can lead to neurological damage, coma, and even death. It requires immediate treatment of IV fluids and medications. In order to balance protein intake, Coulby was going to need a high calorie, low protein diet, in which all food and drink consumed would need to be weighed on a scale and logged each day. Protein and calorie requirements would be based on growth and blood tests. Coulby would require routine check-ups at Hopkins. In addition to all of this, he would also need two medications daily: Argenine and Sodium Phenylbuterate (Buphenyl). These would be mixed into a powdered formula and consumed that way. And it does not stop there. Because the body naturally draws from protein stores in the bones when fighting illness, Coulby could get an excess amount of protein if he were to become ill. The excess protein would cause, you guessed it, hyperammonemia. You must realize that hyperammonemia is extremely serious, and is time-sensitive in terms of getting treatment. It might only be a matter of hours before brain damage occurs.

This was scary stuff! No one could predict how well Coulby would respond to IV therapy, if he already had brain damage, and how much of his life he would be spending in the hospital. We were told to be "cautiously optimistic." Not too promising, so it seemed.

4.5 years later Coulby is a happy, healthy little boy who is full of life and full of spirit! He was later diagnosed as having partial Citrullinemia, because he in fact has some enzyme function. We have hit rough spots along the way, but he is doing far better than anyone anticipated, and than we could have dreamed he would that first night at Hopkins. Coulby has spent nights in the hospital with dangerously high ammonias, has battled illnesses, some of which landed him in the hospital, has maintained the balance of his metabolic needs despite being a picky eater from the start, and endured many, MANY blood draws and IVs. And he is still smiling. Still thriving. Still charming everyone he meets. Still growing and learning and living the life we hoped he would. He started pre-school at the start of the school year, which was a big step for us, being germophobic and all.

And this is our life. Anticipating hospitalizations, but not living for them. Fearing germs and illness, but not hiding from them. Living the ups and downs of Citrullinemia, but learning and growing from each one. We see the blessings in this life we have been given; this awesome boy we call our son. He teaches me something new every day.


*Keep following my story and learn more about Citrullinemia and our family. Check out the link under A Citrullinemia Life to learn more about Urea Cycle Disorders and what you can do to help!