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.

Pre-K down, K-12 to go!

My baby graduated...from pre-school, that is. Maybe not considered such a big milestone by most, but a HUGE one for my little man. I did not know if I would ever see the day that Coulby went to a public school, much less blossomed in one. I have watched Coulby grow into himself in the months since he started school, and it brightens my days.

I remember when Coulby was an infant and I declared that he would be home-schooled so as not to expose him to the germ-infested classrooms of the schools, just begging to make him sick and hospitalized. Most people thought it a great idea, although I must say that Coulby's geneticist and dietitian ALWAYS encouraged us to send Coulby to a traditional school environment. It would help with his socialization, they said, and would expose him to germs in order to build up his immunities. Coulby deserved the chance to go to a school with a teacher who was not his mom, and other students who would become his friends. I am so glad that my declaration to home school Coulby was not the path that I chose for him. I am glad that I gave him the chance he deserved.

I did not cry when the teacher introduced the graduating class of 2009 and the procession of boys and girls filed into the room, with Coulby bringing up the rear. I thought it dear when he spotted his entourage of fans in the back of the room and cried, "Look! There's Poppop! I wanna go sit with him." And I thought it very much in character that the only one whose hat was pulled so far down it almost covered his eyes was Coulby's. Guess who was the only one not singing along with the class? Coulby. He was more interested in sitting down, standing up, and waving hello to us as we tried to no avail to gesture for him to pull his hat off of his eyes and sing along. And that is Coulby. Always has been. You cannot fit him into a mold no matter how hard you try to squish and squeeze him in. Despite all of the times I find myself wondering how I am going to make it through Coulby's toddlerhood, much less his tweens and teens, I would not want to change him; mold him. I love that he is special, not to the point of being strange, but just special enough that everyone who comes into contact with him knows he is. They just know. That is Coulby.

This school year has been a mixture of ups and downs, but an overall success as far as I am concerned. I was so nervous to put Coulby into public school that I think my nerves made me cry more than watching Coulby walk into his classroom for the first time. Ashamedly, I anticipated the worst: germs=illness=living at the hospital during most of the duration of Coulby's first year of school. I was surprised...pleasantly. And reminded to keep the faith. Coulby was sick more times than I can even begin to remember during the past school year, and has been hospitalized for just two of those illnesses, one being metabolic related, and the other only to ensure hydration. TWO times! He endured the rest, including a stomach virus (which always landed him in the hospital as a baby) here at home. I got to take care of my sick boy from the comforts of home. Quite novel.

So way to go, Coulby! I could not be more proud of you! Of your accomplishments in school, but also of the person you are becoming. You are such a blessing and I know you will continue to touch the lives of everyone around you. My special boy.

For all the stay-at-home mommies out there...

I stay home with my kids. Because I think it is the best thing that I can do for them. And because I did not want to miss a thing as they grew up and started crawling, walking, talking. Making the decision to be a stay-at-home mom was difficult, because it meant giving up that life outside of the home and a second income. But it is the best decision I have ever made. Not because it is an easy job--in fact, it is the hardest job in the world. Well, in my humble opinion. So I find it comical that people think it must be wonderful to be home all the time. You know, with all that "down time" that I have to do what I want around the house. This is a tribute to all of you stay-at-home moms who know exactly what I am talking about...

I was due April 22, 2004 with Coulby. I was huge by the end of my pregnancy with him...turns out he was a big boy, especially for my 5'4" frame. So I looked huge and felt extremely uncomfortable and was ready to have the baby and move on. Not that I did not love being pregnant, because I actually did, but by the end I had, had it. Plus I had started dilating and was 100% effaced by mid-March, so I thought Coulby was going to make his grand entrance much sooner than my due date. He did not. He was born April 25, 2004. And that is when everything as I knew it changed. Drastically. Not just bringing-a-new-baby-home change, but bringing a new baby WITH a metabolic disorder into our lives. and it was then that I knew I had made the right choice to stay at home with Coulby. I would never have trusted anyone to meet the very specific needs that Coulby has. I would have been a nervous wreck. I was anyway! So this started my journey into stay-at-home motherhood.

That first year threatened to break me--my spirit, my sanity, my sense of self, my patience...you name it! Metabolic disorder aside, I went from being an active working woman with a second part-time job while working on my Master's degree, to being a mom. At home. Alone with an infant. Very little socialization. Very little time for me. Very little sleep. Often times it was too much of a hassle to try to go out anywhere. You know, packing up the bottle bag, the diaper bag, loading the baby into the car seat, and carrying all of these things to the car at the same time! (On a good note, this taught me how to carry all of my groceries into the house in ONE trip!) Coulby was a pretty good baby, but he had his moments! And those were the days that my husband would come home from work and would not even have made it to the door before I was handing him a crying baby, as I was crying. Oh, and when I really needed Coulby to nap, so I could get something done or take a nap myself, those were the days when he would hit the crib and scream in protest. I would pick him up again, calm him, go to lay him back in the crib, and the screaming would start again. And so it went: pick up, calm, lay down, screaming baby, repeat. On top of everything else, Coulby did have several hospitalizations in his first year, and we were always worried about him and keeping him healthy. I swore I would not make it through that first year. But I did. And by February 2006, I must have forgotten about all of the stuff with Coulby, because I was pregnant again!

Isn't it funny how we have a baby and then all of that infancy stuff disappears from our minds (sleep deprivation and all of its effects, early mornings, late nights, spit up, the bewitching hours, teething, diapers, drool...) so we can have another baby? I think if people really remembered all of the difficult things about having a baby, they would not go on to have any more children. I think it is the good things, like all of the firsts, and the toothless smiles, and the happy baby giggles, that we remember the most. Because the good things far outweigh the difficult. They make it worth it.

Caroline was due on November 1, 2006, and arrived October 29, 2006. I was amazed at how easy it was to bring her home. We got to experience all of the new baby stuff that we missed out on having Coulby and all of his medical issues. Plus Caroline was like a little dream baby. Quiet, content, just easy. And I had settled in to being a stay-at-home mom, too. I think that made the biggest difference in bringing her home. Coulby had to suffer all of my insecurities of being a new parent, as well as my adjustment to being home.

And now, I absolutely love being a stay-at-home mom. It is the hardest job in the world. Every day is new and unscripted. The day revolves around the kids and their moods and their needs, and some are not always fun. Nap times still do not always go smoothly, and I suck it up and say, "oh well," to any quiet time to myself. I spend much of my days chasing after Coulby to get him to drink formula, or rescuing the cat from the attacking children, or cleaning up Caroline's pencil wall art. There are toys everywhere, cleverly hidden in baskets that get dumped upside down, spilling all of the contents out. I pick up those toys about five times a day...at least. I change poopy diapers (and sometimes they are the ones that make my eyes water), remind Coulby to use the potty before we leave the house (and he STILL has to go right when we get in the car or to a store!), try to squeeze time in to do mountainous piles of laundry, and put the "time-out" chair into use when my little boy pushes the limits (making me long for the days when all he could do was scream). I think in mommy terms now, and have accepted the "mommy brain" as part of the territory. I always say that I will be smart again...some day. I do not get out much and I have not had a "date" with my husband in forever, and i often wonder if I will know myself anymore by the time the kids are both in school all day every day.

But I also laugh. I laugh at my kids and the funny things they come up with. I laugh when Coulby makes up his own songs, or Caroline starts dancing to those songs. And even when she breaks open eggs on our counter or pours salt all over the table or pepper on my bagel and in my coffee. What else can you do but laugh? These kids are funny. They are not wallflowers that say "Yes, ma'am," or sit with their hands folded in their laps, never breaking a rule. They live!

My husband has the glamorous job (or so many people think), so a lot of time when asked what both of us do, I feel the limelight bypass me. And that is okay. Because I know what I do as a mom, and I know how difficult and wonderful and frustrating and fun it can be! Moms make the world go 'round, especially those brave enough to be stay-at-home moms. I applaud you all!!

Happy to be HOME!

Coulby is home! He was discharged from Hopkins yesterday and is happy to be home and reunited with his trains. The discharge orders were to make sure Coulby drinks lots and lots of fluids, and gets as many calories as we can get into him. And of course, he must drink his formula. So far, he has done well drinking his formula, with some resistance, but has been stubborn with eating anything. I do not think it is related to his illness at all--it seems to be driven more by his stubborn streak and need for independence. Coulby wants to be in control and make his own decisions, rather than having someone always telling him what he has to do. Has to eat. Has to drink. Has to get his medications. You get the point. I know this is typical 4-year-old behavior, but I also attribute it to the fact that Coulby has had no control over much in his short life. From the moment of his Citrullinemia diagnosis, most of his decisions have been made for him. Now he gets the chance to control some of that. Frustrating now, but something that will definitely help in his future.

Last night Coulby was reluctant to sleep alone, so he took over my place in my bed and slept with daddy. I slept in the guest bedroom in our basement, but do not plan to make a regular habit of doing so. We just figured that Coulby had a big last two days and needed a little extra TLC upon coming home. He slept through the night (minus the multiple times getting up to go pee), and most importantly, was fever free! I am not sure if I had mentioned earlier that the docs did say that Coulby has an ear infection that might have been contributing to his high fever. He also was/is fighting a virus that has been seen in the hospital and is characteristically accompanied by a fever for 4-5 days in most children affected. Anyone else noticing the potency of the viruses going around this sick season? Nasty bugs that seem to hold on forever! (no, my congestion has not dissipated yet either--it has been over a week now!)

This morning Coulby woke in good spirits with his usual endless supply of energy. I am sure not having a fever has helped in that department. You would never know Coulby just spent time at Hopkins, hooked up to an IV with a temperature alternating between normal and 103! A miracle, my boy! That is all I can say. And while it has not been fun to have Coulby sick with multiple colds and other bugs this winter, I am so amazed at how well he has weathered each one. God is good!

Thank you all for your prayers and continued support through our journey with Citrullinemia. You help us to stay strong when things get tough! Please continue to keep us in your thoughts as we work to get Coulby back on track and eating like a champ again.

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!

Sick...again!

"Now make sure you keep your hands really clean, do not get near sick friends, wash your hands after playing in centers, and remember to use lots and lots of Purell." Coulby has heard me say this so many times that he has actually started reciting parts of it to me right before he gets on to the school bus to enter the germy world of public schools. In some part of my brain, I foolishly believed that this daily recitation would prevent Coulby from participating in the 'pass-the-virus-on' preschool game, from which he has brought home colds and other assorted illnesses. I suppose Coulby would have to live in a bubble in order to avoid ever getting sick, which we all know is not even an option.

What is my point? Coulby is sick...yet again! He was just sick about a month ago with some nasty stomach virus, which was hard on him, stressful on us, but still managed at home. In the last few days, Coulby has gone from having a runny nose, to being stuffed up, to a nasty cough, fever, and loss of appetite. Dealing with the cold symptoms: piece of cake. Dealing with the fever and loss of appetite: well, that on top of his Citrullinemia is extremely stressful and exhausting. For all of us.

Coulby's body can react to a fever by drawing stores from his body, which can cause excess protein in his system and possible hyperammonemia. We have to treat the fever with round-the-clock Motrin, and also make sure his protein intake is less than his expected daily intake. We also have to make sure that Coulby is drinking plenty of fluids, preferably those with calories. This will ensure ideal hydration and flushing of his system. By keeping caloric intake up, Coulby's body will be less likely to draw from its own protein stores to replenish his system and make him get better.

With all of this said, you can see why we dread Coulby being sick. There is the constant care to make sure he is getting what he needs to not only get better, but also to maintain his metabolic stability. Fear of hospitalization triggers stress. When he does not want to eat, he is not getting what he needs to prevent hospitalization. When he does not drink, he is not keeping himself hydrated and can end up becoming hyperammonemic. The average cold turns into a nightmare.

I pray that we can get Coulby through this cold here at home, and we are doing everything in our power to do just that. Please pray for him. For an appetite. For no more fever. For healing.

Prayers for Corrigan

Corrigan needs your prayers. He is currently hospitalized at JH due to a metabolic episode that presented itself yesterday. Mindy spent much of her day at her local ER as they poked and prodded at Corrigan in order to test ammonia levels. Due to an elevated ammonia on the rise, he was transported via ambulance to Baltimore. There is no saying how long he will be hospitalized. These are the sad realities of this disorder.

Please keep Corrigan, as well as Mindy, Mark and Connor, in your thoughts and prayers. Pray for healing and a short hospital stay. The hospital experience is less than glamorous, and is emotionally and physically exhausting for baby and parents.

Such a sweet little boy, who has been through so much in his short life, Corrigan is one of the brave children living life with a UCD. Every time he goes into the hospital, I cannot help but feel the anguish I feel every time Coulby is hospitalized. And these kids are so brave! I know Corrigan will come out of the whole experience still smiling and making others smile!

I am thinking about you, little angel, and cannot wait until you are back in the comforts of your own home. Mindy, my dear friend, I am praying for you and yours, and you know I am available for whatever you need! God bless you all!

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!