Urea Cycle Disorder

Join the Conversation on
Urea Cycle Disorder
101 people
0 stories
7 posts
  • About Urea Cycle Disorder
  • Note: The hashtags you follow are publicly viewable on your profile; you can change this at any time.
    Don’t miss what’s new on The Mighty. We have over 20 email newsletters to choose from, from mental health to chronic illness.
    Browse and Subscribe
    What's New in Urea Cycle Disorder
    Community Voices

    Rare is beautiful

    <p>Rare is beautiful</p>
    1 person is talking about this
    Community Voices

    So You've Received a Diagnosis for Your Child. Now What?

    After I received my daughter Jasmine’s diagnosis of urea cycle disorder (UCD), the first thing I thought was, “Great, now I know what’s wrong with her and we can fix this.” But I also panicked: “Oh my gosh… I have a kid with a medical condition.” People might tell you it’s great to have a diagnosis, but then they go on with their lives and what do you do? Yes, I have a “diagnosis,” but now what? What’s going to happen? What am I going to do? How will this affect our lives? How do I tell my family and friends? How do I explain her condition? The doctors explained it over and over and we thought we understood what was happening. We thought we understood her condition. What I didn’t realize was that I wasn’t ready to answer questions. I called my mom and tried to explain. I tried my best to make it simple and help her understand. “She can’t process protein. There’s a process that your body goes through called the urea cycle. At the top of her cycle, her cycle stops working. Ammonia builds up in her system and she can’t flush it out.” I must have tried to explain this to every one of my relatives, and yet each time I felt as lost as they were. The truth is, I wanted to crawl in a corner and stare off into space. I didn’t know what to tell anyone anymore, so I stopped talking to anyone I didn’t have to. I went into survival mode and shut the world out. It felt like none of my friends and family could possibly understand how I was feeling. We brought Jasmine home from the hospital after just 24 hours in complete shock. The doctor suggested we find groups for her condition. We found the National Urea Cycle Disorder Foundation, the NUCDF Facebook page and my favorite so far, the Urea Cycle Disorders Worldwide Facebook group. Reading about others who have what Jasmine has and hearing they’re alive and healthy and living with their condition was so helpful. The community for urea cycle disorders has been a life-saver. After receiving Jasmine’s diagnosis, it has taken months for me to fully understand her condition, and I’m still learning. It has taken months for me to tell people what’s happened to our family. People might think the world is a better place once you receive a diagnosis, like the clouds open up and the sun shines through. But in our world, a diagnosis is the beginning of a long journey. It’s a lifelong road of working to stay healthy. Jasmine’s condition is now a big part of her life. She won’t “grow out” of it or she “recover” from it (unless she needs and receives a transplant). She will carry this with her all the days of her life. To any other parents out there who just received a diagnosis for their children and aren’t sure what to do next, this is what I suggest: Surround yourself with good, supportive family and friends and soldier on. Find groups of people who truly understand your child’s diagnosis and lean on them for support. Understand as much as you can about your child’s condition so you can be the best caregiver and know you’re doing everything you can. Focus on one day at a time, and each evening, you’ll know you’ve accomplished something. It may be small but it’s something. We hear all the time, “I don’t know how you do it.” We do it because we have to. There’s no choice when your child needs you; you figure it out. Follow this journey on Jasmine Marie and Her UCD. Do you have a story about your experience with disability or disease? Maybe a moment that made a big impact on you? Please send it to community@themighty.com and include a photo for the story, a photo of yourself and a 1-2 sentence bio. Check out our “ Share Your Story ” page for more about our submission guidelines.

    Mindy Mooney

    The Unusual Reasons I Owe My Son's Disorder a Thank You

    Dear Citrullinemia, Thank you. I know. I didn’t expect for me to say that either. “ Thank you?” I don’t know. Something about that thing where time does something and things get easier and the hate kind of dissipates and this weird level of acceptance rolls in that you never, ever in a million years thought would arrive, but here it is. KUM-BA-YA! Oh, Citrullinemia. Nearly seven years have passed by since I first heard your name. Seven years since I first had to spell it out for a nurse… three times. “ Wait, C-I-T-R-U-wait how many L’s?” That’s plenty of time to see the silver lining around things and plenty of time to learn a few lessons. And while I can’t speak for Corrigan, my son, the actual person with the disorder, I can speak for myself and the things my son’s urea cycle disorder (UCD) has taught me to be thankful for. Off we go now… Thank you, Citrullinemia, for reviving my math skills. I distinctly remember whining in math class, “…But I will never use this in my middleweight championship boxing career!” Up until Corrigan’s birth in 2008, I was right. But now, I have to calculate and measure and chart and well, uh, that’s about it. Fine, I lied. I use a calculator. Thank you, Citrullinemia, for honing my city driving skills. Prior to your arrival, I never needed to drive in Baltimore traffic. But thanks to you, UCD, I am now proficient in quick lane changes, long traffic jams and screaming at people in souped-up Honda Civics. Thank you, Citrullinemia, for ridding me of my fear of bodily fluids. Before you joined our family, I had lived my life through my early 30’s with only one personal experience with a stomach flu and a couple of heaves over the porcelain pot from morning sickness. I had raised a boy for 10 years who, himself, never had a puking virus. Ever. I had lived a gloriously vomit-free life until you walked through the doors, UCD. Now, I can catch a torrent with my bare hands and not even flinch. ( Ugh, I know, did I have to type that? Yes, yes I did. You know why? Because my kid cannot just throw up — he has to throw up into something so I can calculate the volume loss. I have to know precisely how much goes into and out of his body. It ain’t pretty, but it’s life.) I’m so casual about bodily fluids now, I would have made an excellent nurse. But alas, I loved the boxing ring too much. Thank you, Citrullinemia, for teaching me how to sleep with strangers. Before 2008, I would rather have eaten a bag of hair than share a sleeping situation with someone I didn’t know. But once UCD arrived, there I was, sleeping four feet away from a strange man, separated by only the flimsiest curtain. And who knows how many people come in and out of my son’s room at night and see me spread out, half on and half off the most uncomfortable piece of furniture laughingly meant for sleeping. Who knows how many have seen me snoring and braless with my mouth wide open. Well, I’ve learned to forget about vanity. Thank you, Citrullinemia, for teaching me to speak up. Way back when, I was content to drift through life without confrontation. I once purchased a defective and expensive vacuum cleaner that barely worked for a week before breaking. I needed a vacuum cleaner, but I didn’t need some lady at the Customer Service desk asking me what was wrong with the vacuum. I mean, what if she looked at me in an angry way or something? Content to sweep the floor with rolled up balls of packing tape, I went on with my life until my best friend forced me to go with her and return the darn thing. Even then, I made her do all of the talking, so deep was my belief in being the weeniest, most complacent human being on the planet. Then, UCD came along and suddenly I was yelling at doctors (well, intern, she deserved it), writing letters to people who might be able to help with mind-boggling lab mistakes and barking at the housekeeping staff for knocking at 10:30 p.m. to change a trash bag. I’m out of control. I blame UCD. Thank you, Citrullinemia, for helping me to appreciate the smallest victories. Prior to the diagnosis and learning exactly how impacted my child’s brain was from the disorder, I scoffed at the “everyone gets an award” way of life here in our country. I fought hard for every middleweight boxing belt I won, and I didn’t like the idea of my competitor getting a prize just for showing up. Why would I want that for my children? Then, along came brain damage and developmental delays and life-skill struggles. Suddenly, I am the mom ordering a dozen 3-inch plastic “Made in China” trophies to give to my brave boy for things like “eating two cheerios” or “not yanking out your g-tube button today.” Thank you, Citrullinemia, for making me silly. Before, I was too serious and too worried about what other people thought to live my life in an authentic way. I would hear my mother’s voice reminding me to “be a lady” in all that I did, and I was afraid to upset things. Living like that made me forget how to laugh — how to revel in a simple pun or a gross joke. Perhaps it was the years and years of poor personal nutrition while I learned to deal with this new life, the months and months of sporadic sleep or just staring down at my sick child, covered in wires and surrounded by machines, that made me lose my mind just a little, because now? I laugh. I let my husband crack a joke in situations that might not merit one without getting upset at him and poking him in the ribs with my elbow. I laugh whenever I can and swim around in a pool of silly as often as possible. Which reminds me, I should probably go ahead and admit I was never a championship boxer. I mean, this UCD stuff kind of forces you to put on the gloves and bounce back and forth on nimble feet, ducking the punches as they come flying, but I’ve never entered the ring. That was silly of me to say. I did, however, work retail in a mall kiosk for 17 years, 17 long Black Fridays, so… same thing? Anyway, that’s all I wanted to say to you, Citrullinemia. Thank you, you stupid, sneaky, frustrating, insidious, genetic jerk. (I love that Corrigan looks like he just read the above post and was like “Oooooh, Mommy went there.”) This post originally appeared on Mooney = MC2. For all of March, The Mighty is asking its readers the following: If you could write a letter to the disability or disease you (or a loved one) face, what would you say to it? If you’d like to participate, please send a blog posttocommunity@themighty.com. Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio. Want to celebrate the human spirit?  Like us on Facebook . And sign up for what we hope will be your favorite thing to  read at night .

    Mindy Mooney

    Emergency Room Line Jumpers Are the Worst, Am I Right?

    I saw the expression on her face out of the corner of my eye, and my body tightened in fear of confrontation. Her mouth tight with anger, I could see the venom in her eyes. I knew I didn’t have it in me to verbally spar with a stranger today, but I’ve seen actual physical violence occur when my son’s name is called before others. Many, many years ago, a male nurse was actually assaulted when he attempted to help calm an irate member of our community, who felt that everyone must loudly hear how unfair it was that my limp, pale and vomiting infant was taken back instead of his sick wife. It scares me sometimes, the feeling of wild anger that can fill a room when dozens of people hate your guts. I get no pleasure out of the kind of priority we receive when we enter an emergency room. Please understand that I’m keenly aware you despise me as I walk past you through the waiting room and through those double doors. I saw you vomiting into a bucket when I walked into the room, but please know I take no delight in seeing a doctor before you. I saw you comforting your child with a broken wrist as I waited at the front desk, and as a mother myself, I know every minute you wait is torture for the both of you. It makes me uncomfortable that your child’s obvious pain is not as critical as what I’m dealing with at the moment. It really does. I see you, all of you, even as I’m desperately avoiding eye contact. You’re all sitting there in uncomfortable chairs, sweat on your brows, pain in your eyes and tension in your shoulders as you hope the next name called is yours. Or your child’s. But I know my child’s name will be called first and that when I stand, grab his hand and walk him back, you’re not all sending me love with your gazes. I hear the things you mutter under your breath as well as the things you mean for me to hear. I’ve heard the loud voices of others yelling about us as the doors close behind us. And honestly, I’m sorry. I truly am. As much as I’d like to be the person who can shake off the stares and glares and walk defiantly past each one, maybe tossing a few middle fingers in the air as I go, that isn’t me. I don’t delight in our quick pass to urgent hospital care. You see, I’d much prefer to be dealing with a broken wrist or a regular old stomach flu. I’d rather sit there an extra hour with a normal complaint because in our family’s case, those minutes ticking by are minutes that could potentially mean the difference between brain damage or no damage for my little boy. I know it’s difficult to believe. Unlike the man who stumbles in with blood drained from his face and hands clamped to his chest, you cannot tell that my son is in a crisis. He may be woozy and limp in my arms, or he may be upright, walking and even laughing. But what you don’t know is that inside of his body, right there inside of his skull, an invisible toxin is damaging my child’s brain. That toxin, ammonia, may cause him to sleep, or it may cause him to be hyper and act strangely, including odd, creepy laughter for no apparent reason. It could cause him to stumble into walls or fall into a deep sleep for hours and hours. If left unfettered and untreated, it could cause him to die. That’s not hyperbole. That’s our reality. He has a urea cycle disorder called citrullinemia, and because of the way his body was made, missing one little enzyme, sometimes we don’t have much time when things go wrong. We have to assess and act quickly, and the good folks at our hospital know this. They know that because my 6-year-old has walked through those doors more times than any child ever should. I’m guessing, but I would say it’s somewhere around 30 ER visits at this point. He’s also walked out many times as well, concerns unfounded and relief on our brows, but we can’t see the toxin in his body. We cannot know if his brain is in danger until the emergency room doctor runs the test. That test is only available to us by going through the emergency department because there’s not another facility anywhere near our home to check his levels, and because his blood is taken from a port implanted into his body and threaded into an artery, the environment must be sterile. That means the hospital every single time. There is no home monitor to stick him and find out for sure (oh, how I wish) so after I watch him, assess him and then make the painful decision to risk a trip in for the test, I have to hope and pray that no one decides to start a fight with me in the waiting room, just so someone can jam a needle into my brave child’s chest for a little blood. So I know you’re angry, I do, but he doesn’t have 40 minutes to wait. Or three hours during flu season. He just doesn’t. In fact, I’m literally risking his life having him in that waiting room in the first place (due to the germs, viruses and hospital-acquired bacterias), so please know that if I walk in, my concern is real and not something I take lightly. I take none of this lightly because I cannot afford to. And because I cannot afford to, my child comes with an emergency protocol — an actual letter of protocol from his doctor at Johns Hopkins that every ER in the world takes seriously. He walks into the hospital with explicit instructions on how to save his brain should that toxin be elevated, every person working in that ER knows his name and the urgency his care requires because they’ve tended to him and cared for him for years and waved him off with tears in their eyes as a helicopter flies him off to a larger facility because he’s far too sick to stay local. So when I walk in and the nurses recognize him, call out his name with a smile and they allow us to wait for a few minutes in an enclosed room separate from the virus-laden masses, when they call his name before those waiting far longer, we aren’t receiving special treatment because we “know someone.” (I’ve heard that accusation — though it’s true, we know lots of “someones” and each of them is special to us). We’re receiving special treatment because his specific situation dictates that urgent action can save both his brain and his life. Just like the woman with chest pain is seen before the woman with a bad stomachache, my child will likely be called back before most other emergencies. I know that upsets you. I know it seems unfair. But I ask that you understand I’m working against a ticking time-bomb and that I’m so sorry for your suffering as you’re forced to wait a little longer to be seen. We didn’t choose this life, but we’re thankful for plans in place, doctors and nurses who act quickly and for those of you who do not judge based on something you don’t know. He just needs to go first, and I’m sorry. Truly. This post origianlly appeared on Mooney = MC2. Want to end the stigma around disability? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .

    What to Know When Your Child Is Diagnosed With Urea Cycle Disorder

    You’ve just had a baby. You loved when it was just you and Jasmine, but now she has a sister, and that’s OK. You can make it work. The past few months have been rough because Jasmine has been pretty sick, and it’s been getting worse. She’s skinny and refuses to eat, but you’re doing your best. As you’re sitting in the doctors office waiting on the results, the doctors are asking a lot of family history questions, and you’re not sure what all of this means. You were just discharged from a different hospital yesterday after four days of test after test. You thought you’d leave with just acid reflux medicine. Wouldn’t that have been nice… The doctor comes in and tells you Jasmine will be admitted on the spot because her ammonia is well over 200. You’re thinking, Wait a minute, she looks fine. He explains normal people with ammonia this high are likely in a coma. What’s ammonia? Don’t worry, you’ll be an expert in just a few short months. Wait… a coma? Take a deep breath. Remember that she’s alive and hasn’t suffered serious mental delays. You don’t know it now, but you’re so lucky, and Jasmine is so lucky that you found out when you did. She could be in much more serious trouble. The next few hours of confirmations and test will define the rest of your life. Your life is about to change in ways that you can’t even understand right now. Even after months, I would tell you it’s still going to be a hard, steep learning curve. Stay strong. It’s ok; everything will be OK. Cry every day if it makes you feel better. Don’t be ashamed to cry. It’s OK to wonder if she will be able to remain as normal as possible. It’s OK to worry about things like quality of life. Relax because all things considered, she should be just fine. It’s going to take a long time, but she’s alive and with a lot of work you can get her healthy. Ask all the questions you can, and write everything down. Every time she gets hospitalized, they ask the same questions, and she’s going be there a lot in the next few months. Educate everyone around you. Make sure early on that all of your family and friends are familiar with her condition and her needs. You’re going to need a break. Knowing you, you will push and push and try to do everything yourself, but you can’t. Try not to compare yourself or Jasmine to other kids and their situations. As you read through Facebook, you’re only going to hurt yourself when you see what all of the other kids are doing while yours is stuck in the hospital getting a feeding tube put in. This is your new life, your new situation and you need to own it — the sooner the better because you’re only going to stress yourself out. Don’t be surprised if you feel like you’re failing her every day. Don’t be ashamed to ask for help, and do it as soon as possible. Don’t be worried if she doesn’t get her medications at the exact second you had planned in your head. Learn to accept that she isn’t going to eat like a normal child. Give yourself some slack because you have two kids, and this is a lot to handle for anyone. Above all else, thank God that she and you have made it this far. Count each day is as a blessing that you get to help her through this part of her life so she can grow and become a young woman. You will be there for her then too, but right now she depends on you to stay alive (a little more than most), but by the grace of God, you’re going to see her through it. You are luckier than most; never forget it. Follow this journey on Jasmine Marie and her UCD. Want to end the stigma around disability? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .