Germs, BE GONE!!

Today's events were rough enough that I returned to blogging.  I think it was really the compilation of this week's events just building up to the point that I reached my threshold of calm and collected, but whatever.  I did not realize it had been so incredibly long that I have been away and my return is overdue.  Had it not been my meltdown, I am sure something would have driven me to become reacquainted with my blog.  Having said all of that...hello again!!  Truth is, I have missed blogging and my absence has been a sad testament to my son's journey with Citrullinemia.  He deserves for the world to know what he lives with each and every day.  Some days are way easier than others, but each day presents some battle, big or small, from which he emerges victorious!  Today...well let's just jump right in!

Caroline has been sick since Friday, missing school Monday, Tuesday and Wednesday so far.  Coughing non-stop, fever, congestion, ear infection to boot!  It has not been a great week for her, and while I hate for her to be miserable and sick, the truth is...I am relieved when it is her and not Coulby.  I know how that must sound, but when Coulby gets sick it is a constant worry about whether he will make it through the entire illness at home or will end up bed ridden with an IV at Johns Hopkins.  Of my two children, Coulby is usually the one who gets sick more often, and with him having just gotten over having croup, I was relieved that it was not him who was sick again.  My relief was fleeting.

The school called me yesterday to tell me "Coulby is not quite acting himself" and to inform me that after drinking his medicated formula, he threw up.  Nothing major, just some clear fluid.  Oh, and his balance was off.  AND he chose to lay in the nurse's office rather than rejoin his classmates in indoor recess.  That's not my kid.  He LOVES indoor recess.  In fact, that is one of my tried and true bargaining tools in the mornings to get Coulby to eat breakfast and take his medication willingly.  You see, indoor recess means he can bring a toy from home to play with at school.  Yesterday he had painstakingly chosen a Hot Wheels car to bring to school and triple checked to make sure I had in fact remembered to put it in his backpack.  So yeah...I knew he must really not be feeling well to pass up his chance to play with it.  I picked Coulby up from school and let the worrying begin!  His symptoms matched Caroline's, but the day and evening went fairly smoothly.

Today Coulby did not have an appetite.  He would not drink anything other than water, which hydrates him but does not provide him with the calories his body so desperately needs when he is sick.  He has been gagging on his formula (although I did not really think much of that because he does that when sick or well).  It was this evening that threw me for a loop and pushed me over the edge.  Having a sick child is stressful.  Having two sick children is even more stressful.  But having two sick children, one of which poses a constant worry when sick...now that is the epitome of stress!  Take that existing stress after a long day, add Coulby vomiting, and my nerves were shot.  It was out of nowhere.  He's sitting on the couch one second, I bring him his formula, and the next second he is throwing up.  It was like just seeing his formula made him sick.  And he was shivering.  Fully clothed, wrapped in blankets and teeth-chattering shivering!  No fever.  And still had to drink a full cup of medicated formula.

This is where I had my meltdown.  I knew he still had to get his medication.  He had just thrown up and yet I still had to be the bad guy and force him to drink!  Who wants to drink something, especially something that tastes 1,000 times worse than biting down on a stink bug (not that I know from experience with a stink bug, but just imagining it makes me gag)?  Poor Coulby.  I hate Citrullinemia always, but especially on days like this!  I hate that he can't just be sick and lay around in his pajamas and not worry about eating or drinking if he doesn't feel like doing either.  I hate that I have to force drinks and medication and food on him when his belly can't handle it!  It just plain sucks!!!  And wouldn't you know that Coulby, after an hour or so and a lot of motivational talking from me plus a few chants of, "You can do this Coulby!" from himself, drank his formula like a champ...AND THREW UP!  IT JUST.ISN'T.FAIR!!!!!!!!  My poor sweet boy!  He tried so hard to motivate himself to drink his formula, despite feeling sick to his stomach, because he knew he had to.  And after all of that, he looked at me and said, "I'm sorry I threw up, mommy."  I hugged him close and told him it was okay and that he had done a great job.  I told him how much I love him and how sorry I am that he's not feeling well.  And I held back my own tears of sadness for him and anger that he has to suffer every time he's not feeling well. 

And I do feel angry.  I cannot help it.  I know things could be worse.  I know Coulby is still home despite being sick and I should be thankful that he is not at Hopkins right now.  But when I think of how hard he tries each and every day, and especially when he's sick, to take the medication he so detests...I get mad!  I just don't know what to do.  He is sick.  He doesn't feel well.  He needs his medication.  But the medication makes him sick.  If he throws up or if he doesn't get his medication, he might end up in the hospital.  It is a vicious cycle in which I am helpless!

So please excuse my temporary meltdown.  I guess I needed to vent a little to a world where most people don't quite understand what it's like to live with Citrullinemia, or any other metabolic disorder.  Please keep Coulby in your thoughts and prayers.  Pray that he will manage this illness from the comforts of home, away from inner city Baltimore and doctors and nurses and the painful invasion of an IV.  Updates to come!         

What I've Learned

People are funny. I include myself in this rather bland statement. Not "ha ha" funny. More like funny because their human nature makes them unpredictable. That kind of peculiar funny. Do you follow me, or am I making absolutely no sense? Maybe further explanation is required...

My mind was wandering the other day, as it often does, and I got to thinking about all of the people I have met or crossed paths with at different points in my life. Some I have formed close friendships with and we will forever be connected. Some became mere acquaintances. And then there are those with whom I have lost touch, re-connected, and either lost touch with again or formed steadfast connections. Funny how that works sometimes. Which brings me back to the initial "people are funny" statement. You think you know who will be the one person standing next to you through anything, and I mean ANYTHING in life: highs and lows, celebrating and grieving, moments of glory and shame, times of clarity and uncertainty. The one who will accept you for just what you are, no matter what. The one you could call in the middle of the night and know he/she will answer without irritability. That person who will take your hand when no one else will. But you never really know until your friends, family, acquaintances, co-workers, neighbors...you get the point...are put to the test. Because people are funny like that. And they will surprise you.

I speak about people in general, but more specifically, about people in my life in relation to being a parent of a child with a UCD. This encompasses those I knew before, and met as a result of, Coulby's birth and diagnosis of Citrullinemia. I can tell you that in the days of hell following Coulby's initial hospitalization at Johns Hopkins, I was surprised over and over again. Surprised by the outpouring of support; phone calls, cards, visitors, meals. Just the genuine care and concern that people had. But mostly surprised by who reached out. There were those that I knew, and always had known, would be there during tough times. But it was the people whom I would have never expected to be there that blew me away.

Human nature is to set ourselves up for disappointment. To put expectations on ourselves or someone else that are unrealistic or unattainable. In doing so, I was disappointed by several people in my life who were not there during such a scary, traumatic, stressful and helpless point in my life. But it is also human nature to judge, unfairly or otherwise. Judging sets us up for disappointment as well, but in ourselves and not others. This brings back memories of a woman I used to work with. She was gruff and seasoned in her job, which made her a bit of a know-it-all. Well, in my opinion she was a know-it-all, which is a judgment in and of itself. I was young and she always made sure I knew that she was far older and therefore wiser than myself. It was annoying. At that time in my life, I was almost always the youngest in the office, and I heard about it: "When I was your age (fill in the blank)," "I'm old enough to be your mother," "That was long before your time, I'm sure." Anyway, this woman was not my favorite person. But do you know who was one of the first people to call when Coulby was hospitalized? Yup...that annoying, know-it-all co-worker of mine! I NEVER would have expected her to call. I mean NEVER. It was shocking. And humbling. So much so that I remember it to this day. I will remember it always.

In this world of technology, places like Facebook can link us to all of the people we have ever met, or even come into contact with, in our lives. I have met some phenomenal people online. Other UCD families who share a story similar to my own and know exactly what it means to have those people you know you can count on. When these disorders threaten our children and life gets scary and crazy and often seems unfair, they are the ones who help us through it. I suppose that really goes for every facet of life, but especially a UCD life.

My hope for my children is that they have an abundance of people, in addition to myself, who will stand beside them through anything. I hope they form those steadfast friendships young and grow to appreciate the value of such. I hope that they, too, can be that to others. When I look beside me, I know who I will see. Do you? The people you expect to be there might disappoint you. Don't discredit the know-it-all co-worker. Expect the unexpected, because people are funny...

My life turned upside down...sideways...inside out

April 29, 2010: If I allow myself, I will live the moment all over again. A moment in time when such a simple thing as a phone call sent me hurdling into a world I never knew existed within the world. A world in which an enzyme slacking on its job can upset a seemingly simple internal human cycle. A UCD world. Six years ago today I crossed the threshold, only looking back to grieve the loss of the world I knew. Being honest with myself, I still do sometimes. Think about what could have been. And then I look at Coulby. Having been diagnosed with Citrullinemia at 4 days fresh, he has never known any other existence. And he smiles. Laughs. Plays. Pretends. He is happy. Content with the life he has been given. Citrullinemia and all.

*May 5, 2010: I started this blog on the 6 year anniversary of Coulby's diagnosis and could not finish it. Not because my emotions overcame me. Not because I found it difficult to talk about how my life was turned inside out by Citrullinemia. But because it is truly a task to convey what it feels like to go from having a seemingly "normal" newborn to one who is diagnosed with a potentially fatal disorder. Those who have never experienced this just have no idea how it feels, to no fault of their own. My hope was to recap that day in such a way that everyone, UCD families or not, could experience what I felt. And I just do not know if I can do that. Taking a break from the post does not seem to have sparked any creativity.

I remember a lot about April 29, 2004, but I can honestly say that certain details are blurred. I am not sure if that is my way of protecting myself from feeling the despair all over again, but my brain was overloaded that day with words not even remotely close to those existing in my vocabulary. Coulby was so tiny and perfect. So innocent. And he was a pincushion. 4-days-old with an IV in his tiny veins. I did not know if he would make it through the night. I did not know if he had any chance at a normal future. I did not know if he had suffered any brain damage. Everything that I ever thought I knew or had any control over ceased to exist that day. And it has never, ever been the same since.

Coulby has grown into the most amazing little man. He has fought his battles and overcome all of them with grace and a smile. He goes to public school (something I was not sure he would ever do), he has gotten through illnesses at home, he can eat anything as long as it is in moderation, he laughs, he plays, he talks (a lot...and loudly), he walks, he writes his own name, he spells small words, he comprehends...all things that a 6-year-old little boy should do. He has come a long way from the screaming 4-day-old baby hooked up to an IV and wires. And I have come a long way from the new mom whose world seemed to rip apart at the seams in an instant. While this is not necessarily the life I would have chosen for my baby boy, it is the life he has been given; I have been given. And I draw from his strength to keep me going during the best of times, and during the worst of times. Coulby is my hero. My little miracle. My inspiration.

Perspective...

"There's no such thing as simple. Simple is hard."
~Martin Scorsese


And what a tough pill to swallow in a world where the main objective is to make everything more simple. Simple ready-in-minutes meals for the active family. Super absorbent paper towels for quick and simple clean up. Online banking for fast, simple bill paying. Simply put, we go to so much trouble to make things simple for ourselves that we forget what it takes to put the work in for the ultimate outcome. I am not immune to wanting my life to be simple. It just isn't. When Coulby was born, simple redefined itself in my world. My life pre-Coulby now seems simple. My life when Coulby is healthy and metabolically stable seems simple. But in the times when every day is a struggle to keep up with what he needs to thrive, I realize how not-so-simple life truly is. And how not-so-simple his every day is, living with Citrullinemia. The last week has been one of those reminders that always snaps me back into reality. HARD! You would think that after (just days shy of) 6 years of living this UCD life that I would not get such whiplash every time we hit the metabolic wall. But it happens every time. Every. Single. Time.

Okay, so usually I allow myself to ignorantly believe that once we get through March, all of the nasty germs that kids spread back and forth to each other will kind of dissipate. And I know that must sound ridiculous to most, but it is my attempt to will away any illness from touching Coulby after the long Winter of colds, stomach viruses, flu, fevers...you get the point. You can imagine my disappointment when Coulby was sick, yet again and in April no less, with a stomach virus not so long after the last round that he so graciously shared with all of us. The stomach virus that landed him in the hospital for a 4-day stay from hell. *Shudder* I do not even like to think about it. Brings me back to a very bad place, mostly for Coulby, but also for myself. So anyway, Coulby was sick yet again.

He started not feeling well about a week and several days ago. Just not eating. Saying his stomach hurt. No details, but going to the bathroom a lot. Throwing up if we tried to push food on him to meet his daily protein and calorie requirements. The poor kid was just sick and there we were trying to force food and drinks on him from sun up to sun down. It does not make me feel good to say that. For all of Coulby's life I have mourned not being able to take care of him while he is sick the way a mom should. The way my mom always took care of me when I was not feeling well. Coulby might as well have me saying that 'sick' is a non-existent word in his vocabulary. That he might as well scratch it out because he cannot be sick. Not like other kids.

The not eating or wanting to drink anything other than water went on for about a week. Literally, we were just waiting for the moment when we would have to bring Coulby to Hopkins. I always wonder how long he can possibly go without meeting his metabolic requirements before he gets into trouble and needs medical attention to pull him out of it. It is scary. And I really believe it is that fear that makes going through each and every illness so stressful. It is that fear that people do not understand. And the struggle that no one can understand is having a sick kid and still having to get him to eat. What do you feed a kid with a stomach virus? A picky eater, no less. Do you want to eat anything when your stomach hurts? Now you see why I say that when Coulby is sick, life is not simple. Not at all. For the most part, our daily routine in caring for him has become second-nature. But we are reminded of the smallest things that we do every day to keep him alive and well when he is sick. Because that balance gets so thrown off and we so desperately try to gain it back.

Coulby finally met all of his protein requirements today for the first time in well over a week!! This is blog-worthy. And if you are a parent of a child with a UCD, you know why. Because it is that opportunity to kind of breathe again. To live again. Coulby is finally asking for food. And drinking milk. And tormenting his sister with a vengeance (ah, sibling rivalry). Coulby is back! Oh how sweet it is!

And now I can resume life under the illusion of simplicity. Go through the motions and slip into our "normal" routine again. Into the daily rituals that usually seem so simple, but become so hard when we are thrown a metabolic curve ball.

The Shack

If I am honest with myself, I can admit that there are many things that I would change about my past if I could. The age old, "If I only knew then what I know now..." comes to mind because I think we, as humans, all tend to carry some regrets. They sometimes weigh us down. But I have also allowed myself to believe that some of the things that I would change if I could are the exact things that have made me who I am today. Out of regret comes knowledge. And if you are smart, you take that knowledge and use it to better yourself and those around you. If I was to say that I have taken my own advice for every regret I have, I would be lying. But the many regrets that I have chosen to use for good have made me better. A better mother. A better wife. A better daughter. A better friend and sister and acquaintance. Just a better person. I know that my past is what brought me here today.

I cannot describe myself as an avid church-goer. Many Sundays have passed in which a seat sat empty where I could have sat to worship. But I will not say that just because I do not worship in a church I am any less of a servant of God than those who gather under one roof. I am a sinner and I am weak in His presence, and I have a long journey to become the servant that I want to be, but I am trying. The journey that has led me to the Lord started when I was a little girl, attending the Catholic church with my parents every Sunday. I have lost my way many times as I have grown into womanhood, but I somehow manage to find my way back.

I remember when my husband and I, dating at the time, started attending church with his mother on Sundays here and there. The pastor is one of those who grabs your attention with his speaking voice, not because it is loud, but because it has an air of importance. You feel like you are commanded to listen, and the sermons flow from him with such grace and passion that they wrap themselves around you. I was amazed at how touched I was by his sermons, never having experienced such a grip in the name of the Lord. I guess maybe that was a turning point in my life, listening to his words. I always felt like the sermons were written just for me. They moved me in ways I had never been moved before, and I think it was then that I truly realized the Lord's grace. I am sad to say that I have not attended that church in a very long time, too afraid to expose Coulby to all of the germs in the church nursery, but I also know that I have to face my fears and let God do the rest. I know I must hand my fears over to Him. That is one of the things I am working on.

Then my husband and I were engaged and the same pastor mentioned above was to marry us. He required that we do pre-marital counseling prior to the wedding, to which I was agreeable, but had no idea what it would entail and how much I would take what I learned and apply it to my marriage. Looking back, I really think the counseling was one of the key pillars in what my marriage to my husband is today. We are solid, devoted, loving and faithful, with the Lord being the third party in our relationship. There was a biblical verse that our pastor asked us each to read and interpret, and I remember my naive and ignorant interpretation. The gist was that a woman should serve her husband. I, feeling very strongly about equality of the sexes, responded by saying that I felt like this was an unfair burden for a wife to be subservient to a husband. Shouldn't each person in a marriage get equal satisfaction? If the pastor could have, I am sure he would have clunked me upside the head (as in the V8 commercials) to wake me up! Instead, he listened to me without judgement, then listened to my husband, and only then proceeded to educate us. These two naive, dare I say dumb, young lovebirds needed the guidance that the pastor then offered: Marriage is not about subservience or dominance, but rather getting your satisfaction from satisfying your spouse. That was the light bulb moment for me (aha!) in which I got it. It explained everything...not just marriage, but a relationship with the Lord, and with any others in my life.

Now I have said it many times before, but I must profess again that I truly believe that my two babies are true miracles of God. All babies are. Having said this, I can also say that having Coulby could have shattered any relationship that I had with God. When he was diagnosed with Citrullinemia at 4 days old, I wept and let myself stray away from the Lord to ask, "Why him? Why me?," only to return to him in the same breath and pray that He wrap his arms around Coulby and heal his tiny broken body. In all honesty, "why" has been the hardest thing to keep at bay since Coulby's birth, because some times were so hard and I felt such despair that I could not focus enough to see all of the blessings we have been given. And I do count my blessings. Every day. I know what could be with Coulby, and how fortunate we are. And I praise the Lord, for he has wrapped Coulby in his embrace and breathed His life into him. Coulby might always live with Citrullinemia, and there will be many moments when it will seem unfair for him to have to suffer, but I have learned that those are the moments when I need to turn to God the most. I hope I can instill that in my children as they grow.

Now I am finally at the whole point of this post. I am an avid reader, and usually read books that are passed on to me by friends and family. My mother-in-law recently brought me a book and I added it to my stack of "to be read" books. I was in the middle of a book at the time, and when I was ready to read the next one, the cover of the book my mother-in-law had brought me caught my eye. It was not next in line, but it sparked my interest, and I began reading it: The Shack by Wm. Paul Young. This book has touched me in ways that I cannot even describe. It is almost as if I could follow the story like it was my own personal journey to the presence of God in my life. It opened doors that I did not even realized I had closed. A true must-read for anyone questioning their faith or longing for a better relationship with God or struggling with any aspects of life. A must-read for everyone! Best stated by author David Gregory's review: "An exceptional piece of writing that ushers you directly into the heart and nature of God in the midst of agonizing human suffering. This amazing story will challenge you to consider the person and the plan of God in more expansive terms than you may have ever dreamed."

If you enjoy reading, or even if you do not, pick up this book! You will not want to put it down! It is written so well, intertwining the story of a man struggling with his faith after he suffers a tragic loss when his young daughter is abducted and feared murdered, with the divine existence of God, even in our dark world. Reading this book is an experience in and of itself!

Illness Be Gone!

This is Coulby's new look...what do you think? He has been sick yet again with a cough, runny nose and an on and off fever for four days straight. Not fun. It seems like we have one healthy week for every three sick weeks. Not fair. Since Coulby had a fever even yesterday morning, we decided we should take him to see our local pediatrician. This was not something that required a rush to Hopkins (whew!), and in such cases we see the pediatrician and consult with the geneticist and dietitian.

Honestly I did not expect the pediatrician to be able to do anything for a persistent cough, so when my husband called and said the doctor thought Coulby has pneumonia, it took me a minute to process what he said. Coulby was given Albuterol via a nebulizer, and prescribed two antibiotics to wipe it out.

Of course I spoke to Coulby's geneticist about his diagnosis and prescriptions, and she seemed to think that from a metabolic standpoint, Coulby was handling this illness just fine. She was not concerned, therefore I was not concerned. It is just another illness to deal with, and we have had our fair share this season. I think we deserve a break! But I am thankful that Coulby is HOME through the whole ordeal and not in a hospital bed. Another blessing. I never thought my son would be able to weather so much from the comforts of home.

As for the photo, Coulby absolutely LOVES his new mask, and thinks it is cool that he can blow smoke "like a train." In fact, he keeps asking to "do his mask." At least it is a novelty for him...for now!

5 years ago...

I remember how badly I wanted a baby before I was pregnant with Coulby. It was an indescribable emotion. Not like, "I think I am ready for a baby," or "It would be nice to start a family." It was more like, "I want a baby NOW!" My husband was a little less driven because we had not been married long before the plans for a family were set in motion. Despite his initial uncertainty about timing and diving into such a huge decision, my hubby and I were blessed to become pregnant right away and very excited to add a third member to our family of two.

I went through my pregnancy just like most other women do: with the usual excitement, uncertainty, anticipation...oh, let me just put it in "real" terms! I was excited and scared to death, in awe of what my body was capable of and horrified at how large certain body parts had become, loving preparing the nursery and wondering how we would afford everything for our baby (have you seen the price of diapers these days????), loving watching how my belly was growing with the life growing inside of me and looking forward to wearing clothes without elastic waist bands. I had a great first pregnancy...if I dare say, it was perfect.

On Saturday, April 25, 2009, all of these memories came flooding back to me. Of how badly I wanted a baby, of all of the emotions surrounding my pregnancy, and of how perfect my pregnancy really was. And of how horrific the aftermath became. How devastating it was to have such a great pregnancy only to find out there was something wrong with my baby boy all along. All of those emotions came back, too, as we celebrated Coulby's 5th birthday. If you had told me on April 25, 2004 that my life with my newborn son would consist of a medical vocabulary with Citrullinemia at its root, medications completely foreign to me, scales, a food values book, a daily log of my son's protein and caloric intake, and an unwanted familiarity with Hopkins and its staff, I probably would have looked pretty dazed and confused. And that is exactly how I felt when I was told these things only 4 days after we brought Coulby home from the hospital.

I really did not know what to expect in the years to come, or even if I could expect to have years to come with my son. The doctors at Hopkins gave us little bits of information at a time, and it always seemed that it could not get any worse until they gave us a new piece of information about Coulby's life with Citrullinemia. I think I walked through a daze for most of those days that Coulby spent at Hopkins as a newborn. He laid in a hospital bed hooked up to an IV and wires, wires and more wires when I was supposed to be holding him in the comforts of my home welcoming him into our family. I missed out on all of the newborn stuff with Coulby. That still saddens me, but I look at that time as a blessing, too. Because I can now look back and see how far we have come. How far Coulby has come. How he has grown and thrived and far surpassed what we expected from him as he laid in that hospital bed 5 years ago.

Celebrating Coulby's 5th birthday (and his daddy's 30th!...yes, on the SAME day) is a huge deal because I know where we could be based on what we were initially told about Citrullinemia. Coulby is a miracle. A true blessing. And he has taught me so much in the last 5 years. I see his strength and I hope that I can be that strong. I see his perseverance and I pray that I can overcome obstacles with such grace. I see his drive and I realize we have come full circle. It comes right back to my drive to have a baby; to have Coulby. He is driven in everything that he does in his young life. Honestly, while most people are trying to tame that kind of drive in children these days (like in the school system, as I have found), I encourage it and find ways for Coulby to channel it in positive ways. That does not always make my life easy as a mom, but I figure it will be worth all of the frustrations and hair-pulling moments. It already has been!

So I guess my blog today is to remind myself of how blessed I have been in the last 5 years to have Coulby in my life. I am reminded every day when I see Coulby learning something new, or when he tells me one of his fun make-believe stories (which are becoming more and more elaborate and detailed each day), when I watch him climb the steps of the school bus to go to school. Or when he sneaks into my room in the morning after daddy has gone to work and says, "Hi mommy, can I lay with you?",as he snuggles in beside me. My baby. Even though he is a big 5-year-old now, he will ALWAYS be my baby!

*Oh, and what better way to celebrate Coulby's 5th birthday than with a train cake? And I am not one to brag at all, but I made his cake! I do not take full credit, because I did get some ideas off of the resource of all resources: the Internet. I stayed up until 4:30 a.m. making that cake, and it was worth every second. Coulby loved it!*

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.

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!

Sweet Caroline

My first pregnancy was one I would not mind repeating...it was the aftermath that I would never want to experience again. My second pregnancy was a little rockier, but immediately following was a dream! I think settling in to a family of four was made far easier by our experiences after having Coulby. Caroline has been a true blessing, and just as much a miracle as her big brother.

We had a 1 in 4 chance of having another baby born with Citrullinemia. We knew that, and yet we still wanted another baby. I guess people would ask why we even took the chance, and my simple answer is that God had a plan for us. I knew the luxury of not having to worry about much during my pregnancy with Coulby, and I missed that when I was pregnant with Caroline. That feeling of carefree happiness in which I believed nothing bad could touch me.

Nurses at Hopkins, the same nurses who had cared for Coulby during hospitalizations, took blood samples from me and my husband, and these were shipped off to a genetics lab. The lab sequenced our DNA, as well as Coulby's, so the baby's DNA could be compared to ours. This would determine if our baby would be born with the same urea cycle disorder as Coulby.

I had an appointment at Hopkins, my first time going for myself instead of Coulby, in order to obtain a DNA sample from the baby. I had to undergo a procedure called Chorionic Villus Sampling (CVS), in which a sample of DNA is drawn from the placenta. It does involve risk, primarily of miscarriage, which was scary, aside from the whole experience already being terrifying! But I made it through the procedure, at 11 weeks of pregnancy, and both the baby and I were okay.

The next week was excruciating. Waiting for the results of the testing, jumping out of my skin at every phone call. My heart would pound every time I said "hello." Since we had also opted to have the baby's DNA tested for chromosomal abnormalities, we were not only waiting for CVS test results, but those as well.

The first phone call revealed that the baby had no chromosomal abnormalities, and that we would be having a baby girl. The former was excellent news, and the latter terrified my husband! I looked forward to having a boy and a girl! The phone rang again later that same day. It was a Friday, at the end of the "normal" work day. The voice on the other end of the phone told me that she did not want me to have to wait through the weekend to hear the wonderful news that our baby girl would NOT be born with Citrullinemia!!!! I could have screamed it to the world!

Caroline Alyssa was born in 4 hours (I almost did not make it to the hospital!), and weighed 7 lbs. 1.75 oz. She was the most beautiful little girl I had ever laid eyes on! Our little miracle. Our second miracle. Bringing Caroline home from the hospital proved to be a completely new experience for us; the one I grieved after Coulby was diagnosed.

Coulby adjusted to being a big brother, and we tackled the challenges of having to meet Coulby's needs as well as another baby's. It went surprisingly smoothly. We made it through Caroline's whole first year and then some before Coulby was hospitalized for the first time since she was born. She was a little confused by the whole experience, having one parent at home while the other stayed at the hospital with Coulby. It was different for us, too, because we were used to both being right by Coulby's side during hospitalizations. Caroline obviously missed her big brother, too.

And so it has gone. When Coulby has a routine appointment at Hopkins, we try to arrange for Caroline to stay with her grandfather so we can be with Coulby. If he ends up in crisis, one of us rushes him to the hospital while the other one stays at home with Caroline awaiting updates. Then we switch as we can. It is not always easy on Caroline. She often seems to take a back seat when we have to focus much of our attention on making sure Coulby meets his daily dietary expectations and gets the medications he needs. We work hard to find the balance. Both of our children deserve all that we can give them, and with one of them living with Citrullinemia, this has required a lot of work. Work that we are willing to put forth; that we continue to improve upon as time goes by.

I have posted pictures of Caroline, our little cutie! She is a happy little girl, full of personality, and is just as much of a part of our Citrullinemia story as Coulby.

Coulby and Corrigan

The Citru-C's! We have made some wonderful friends because of these two angels. God sent them to us for a reason, one of them being to bring our families together.

The Citru-C's

There have been many days that have challenged my faith, my spirit, my determination, and my patience. That first year of living with Citrullinemia was as much a learning experience as it was a personal journey. I almost grieved the loss of having a "normal" experience upon bringing my newborn home. My first born. My beautiful baby boy. And as difficult as Coulby's diagnosis was for me, it was even harder for him. Becoming a human pin cushion. Having to drink so many ounces of formula each and every day, sometimes having it pushed on him when his little belly was full. And the meds! My husband and I have tasted them and...well, let me say that my eyes watered and I nearly lost my lunch!



We began calling the nurses by name because Coulby was in and out of the hospital for various reasons (illness, dietary and medication adjustments). They were always happy to see him, and we were never too happy to see them. Not because we did not like them, but because Hopkins became synonymous with blood draws and hyperammonemia. Every time Coulby was hospitalized, it was not only scary, but emotionally and physically exhausting. I would look out of the window, permanently sealed shut, and watch the people walk the streets of Baltimore going about their daily morning, afternoon and evening routines, oblivious to the world on the other side of the window. I was helpless, often angry, and depressed. I never knew what each day would bring: Would Coulby have a good appetite today? Will today be the day he needs to be hospitalized? Should I risk exposure to public germs just to preserve my sanity?



Although I cannot pinpoint the exact hour on the exact day, I know that something hit me that seemed to take some of the weight off of my shoulders and help me to breath again: My son is a fighter. A survivor. And I am surviving. Step by step. Day by day. And now, year by year.



To say that this journey never challenges me anymore would be a lie. But I have learned to live with it, and to seek the guidance from God that I need to take care of Coulby. I only wish that there had been someone out there, someone who knew exactly what I was going through and had been there too; who could have held my hand through that first year. Just to guide me. Reassure me. Educate me. And provide some hope when I thought all was lost.



Now I am getting the chance to be that person that I always longed for. In May 2008, Coulby's nutritionist told me that there was another baby boy born in the state of Maryland and diagnosed with partial Citrullinemia. Really??? She asked if I would be willing to meet them some day in the future, when everyone was ready. I said yes. What else would I have said? The opportunity came sooner than I expected.

Coulby was scheduled for a routine appointment at Hopkins. It was the same day that the above referenced baby was to be discharged. Almost like a meeting of fate. God knowing it was something I needed just as much as the baby's family needed.

Corrigan. I snuck a peek at him as we walked into the all-too-familiar hospital room. Hooked up to an IV, cords coming from every which way, almost like tentacles, I saw my son in Corrigan. His parents and big brother stood to meet us. Mindy, Mark and Connor. And I smiled and said "hello," but what I felt like doing was crying. Because I saw myself standing in their spot just four years prior. Because I remembered the feelings of uncertainty, fear, and pure despair. Geez, what would they think if I just broke down and started crying? I would terrify them! So I sucked it up and we got to talking. The conversation came easily. General "getting-to-know-you" talk, and of course, Citrullinemia talk. Questions. Answers. I really wanted to help this family, who so reminded me of my own. We exchanged information and said goodbye, vowing to be in touch. This was a great opportunity for me to be able to share some of my Citrullinemia experiences, and hopefully prevent some of the heartache and despair I had felt when I thought there was no one to talk to.

In the months since, Mindy and I have found common ground because our sons share the same disorder, and because we seem to be kindred spirits. We have common interests, and often seem to live parallel lives. She has been a friend outside of our Citrullinemia lives. The friend that I have needed, even if I did not know it.

You know how people say, "Things happen for a reason," or "God has a plan for everyone?" They are right. Even when it seems like the world is closing in on you. Keep the faith!

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!