OTC-D Resources

Getting yourself tested for your future is a great thing if you want to go on and have children. You want to know the chances of passing this on to them. Maybe one of your parents had it and you don’t know if you want to be tested. Just by knowing that, it’ll help you maybe to understand your body more. Maybe some of the symptoms you’ve had are very mild, but they could still be symptoms. I think it would just be good to know for your own peace of mind and your future family’s.

Growing up, I had so many symptoms and was just continually told that it was all in my head. There was nothing wrong with me. And so, to get a diagnosis where we can begin to move forward and figure this out was a great sense of relief to me.

Having a good team that you can trust, cause you really are trusting them with your life. It’s very important.

If you’re having trouble getting through to your doctor, there are so many organizations and resources out there to reach out to. So many other women who are going through what you’re going through that have been dismissed by the medical community.

That’s why we’re here to educate and to help other women who are on this path. There’s nothing wrong with getting a second opinion. Find a doctor that does listen to you. You need to be with a team, with a group that you trust, that you feel safe and that listens to you and validates your concerns.

RAVICTI is incorporated in my daily life pretty simple. I try to prep my medications the night before. Now that doesn’t always happen, but it always happens in the morning before work. That’s just something I like to try to do just to be a little bit more prepared. But I take it at breakfast, lunch and dinner. So, I take it with all of my food. Like big meals.

When I go out just for the day, these every, every day I pack my meds in advance. So, wherever I am, wherever I go, whether I’m going out with family or friends, I just, I have it with me in my pouch. Like pre-packed, packaged, all done.

I think a lot of times when we go out, people don’t really have a chance to notice because I do it so quick, as I’ve done it for so long that it, a lot of people don’t even realize I’ve taken my RAVICTI. All the time. Even my mom and my grandma will be like, did, did you take it? And I’m like, I have already done that. (laughs) So, yeah.

It doesn’t matter if you are with new friends. It doesn’t matter if you’re on a date. Like, having to get over the fear of what other people think is going to be your best friend, and not worrying because once you start limiting yourself, you’re not gonna be able to take care of yourself. And I think that’s so important.

For myself, not being diagnosed until I was an adult, I’m sure there were many cases of elevated ammonia and I don’t know what sort of damage that did or what that’s going look like for me in the future.

When I first had the conversation with my care team about managing my symptoms, they did start me with just a low-protein diet. And they gave me symptoms to watch for. We quickly realized that that wasn’t working. So I did start out on a medication and was soon after prescribed RAVICTI.

When I got the news from my team that I would need medication as well as a low-protein diet in order to manage my symptoms, it was a little scary. It felt like maybe this OTC was taking over. But I quickly realized once I started that medication, that that was the best thing that could have happened. It’s really helped me stay on track, and just feel the best I can feel. And I’ve been on RAVICTI ever since.

Even though you’re feeling well, don’t stop taking your medicine. It’s very important to keep up with all your doses in order to feel your best. Another thing is just because you have this diagnosis, it doesn’t mean the end of the things that you enjoy. For me, it was almost like a new beginning. I had this diagnosis. I had a place to start. And I was able to get to a place where I feel so good and know what it’s like to feel good. Growing up I was sick all the time. And I thought that was how it was supposed to be.

It’s so important as a woman with OTC to take time for yourself. Especially as a mom, we put ourselves on the back burner. We’re doing everything for our kids. Everything for our family. And maybe everything for our career. But you really need to stop and take a moment for yourself. It took me a while to learn this, but once I did, and took that time for myself, whether it be going to the gym or just going for a walk or just really having a moment, by myself, it made me that much more present for the times I was there. I wasn’t always so tired. I could really be involved with what was going on. So, it really is important just to take a moment for yourself, whatever you need, to care for yourself. Because if you don’t care for yourself, you can’t care for others.

Living with a UCD is overall a roller coaster ride. I do have my ups and I have my downs. I have my good days and I have my bad days. But I think ever since I was diagnosed at the age of 8, I’ve had really great support systems on my side.

A few people that have helped me throughout my UCD journey I think first and foremost I would have to thank the Horizon By Your Side team. They have been really by my side and I think one of my biggest persons also is my PAL. I think just having somebody that understands the UCD, urea cycle, and just having someone that truly just knows what you go through is so much easier. And also, just having someone available at all times if you just have a question. 

I’ve also been very blessed to have my friends, my family, my mom, who is probably my right-hand, my everything. Not because she’s a carrier of OTC, but because she has been by my side, through thick and thin. Whether it’s been the hospital visits. Whether it’s been just really understanding what OTC is. Having to do a family tree. Breaking down of where it started, how does it get passed down. If it gets passed down, just truly knowing more, but having my mom as my right-hand support system, I think has made everything and throughout this OTC journey so much easier. 

I have an amazing group of girlfriends that have been able to support me throughout my entire journey. I’ve had pretty much the same group of girlfriends ever since high school…It took me also just a little bit to truly just sit down with them and have them really understand what I have… 

And the fact that my friends really made me so much comfortable, it made everything so much easier… Just having their support has really just made a big impact in my life. But they’re always very attentive as to, well, what can Jocelyn eat? Or what can’t she eat? Can she eat something from the menu? Will she be okay? Does she have her medication on handy?    

So, I think it’s family and friends, or I think those friends turned into family, because they cared so much about me. And it just made my life so much easier.  

I have a three-year-old French bulldog. Her name is Ceonna. And she has genuinely helped me out. During those outings with Ceonna, it makes me look back and just really thank RAVICTI and Horizon By Your Side, to just have, be, for me to be able to enjoy those moments of beauty with my dog. So, if I go on a small hike or if I go on a small walk by the beach, if I go to a different park, I think I enjoy those beauty things with my dog, and it’s a reminder that, you know, staying on track with my medicine, staying on track with me eating, dietary, and being on track with everything, I’m able to enjoy the beauties of life, including my dog Ceonna.   

I think my biggest motivator to stay on track with living with a UCD is the beauty of life. I love that I can just keep going. I think the number of times that I’ve been hospitalized has not stopped me, nor will it stop me. I’m very lucky to be able to have amazing people in my life and be just pushing forward in the things that I love.

My name is Juli. I’m 46 years old. I live with my husband and my son and my new puppy, Jaime. And I live with OTC. Growing up, I did have a lot of different symptoms. Nausea. Terrible stomach pains a lot. My hair was very thin. My nails didn’t grow. I didn’t eat very much. I just wasn’t hungry during the day. People thought I had an eating disorder.

When I did go to the doctor, they would run a gamut of tests and everything would come back normal. They’d pull my mom aside and say, “This is all in her head. This is something she’ll outgrow.” Even in my early 20’s, when I ended up in the emergency room for similar symptoms, they ran all the tests that they could and they couldn’t find anything. So the next step was to pull in a psychiatrist to ask me if I felt safe at home. Do you feel safe in your relationship? That was very hard. Because I knew something wasn’t right and nobody was listening to me.

I was first diagnosed with OTC in 2011, I had just given birth to our third son, Eli. And he had passed away after a battle with OTC and two failed liver transplants. Our first son, Luke, is not affected at all, our second son, Noah, was also affected and he passed away at four days old.

Shortly after Eli passed away, I was tested myself. I got a call from a genetic counselor. No one in my family had even heard about this, including myself.

As a woman living with OTC, you know, you hear a couple terms. You hear carrier and you hear someone with OTC and, and to me, personally, those terms are interchangeable.

There are lots of women that are told they’re just carriers of OTC and maybe they haven’t experienced any symptoms, or maybe their symptoms are so mild that they don’t recognize them as symptoms. If they feel like something is wrong, that they’re experiencing these, you know, talk to your doctor about it. You know your body more than anyone else. Just because you haven’t had symptoms in the past doesn’t mean you can’t start developing them.

So, another thing is just really trust your body. Even if the doctors are telling you there’s nothing wrong with you, if you know something’s not right, just trust yourself. Keep advocating and fighting for yourself. Because you are the only one that truly knows you and knows what you feel like. So please, don’t stop fighting for you.

Family is very important to me and I don’t want to miss a thing. So what I can do right now is protect myself the best of my ability. Staying on my medication, keeping with my low-protein diet, just trying to live the best fullest life I can so I can be present for my family, so I can be fully present for my son, so I can be there at all of his activities. So I can see him play in the band, so I can be there with my husband, go on trips, go for walks, and just be able to live my life.

Dating with a UCD has been very similar to having friends who also know about my UCD. Just because I, right at the outset, tell people, because a lot of times, we do the first time is go and eat, or go and have a drink. It’s just a very socially normal thing to go and do. And I feel like if I’m trying to hide part of it, it, it just doesn’t make sense to hide anything. I will, I’m not afraid to talk about it. So, if people want to know, that’s fine.

I find that in relationships and friendships or dating or personal life, I haven’t really had anybody absolutely opposed. Because, frankly, I don’t think anybody should oppose a disorder. That just seems wrong. So, I, thankfully, at least, haven’t experienced that.

I think that having to feel like I looked different was more something to cope with, and growing up didn’t really start feeling different until gymnastics. It was when I started gymnastics and I had a feeding tube and my leo went over my feeding tube and my feeding tube stuck out. It was more, okay, now I look different. And that was something that I really struggled with. And I’m glad I was able to get over that because I continued doing gymnastics up until senior year of high school and competed and traveled.

My boyfriend, Grant, has been so supportive in terms of being able to take care of me when I’m sick, specifically… He has my back. And he’s been there for every single hospitalization and all of those, which has been really nice to have like another support person in my life that cares enough to continue to show up.

Grant makes me feel very safe. I think it’s just his personality and, like, knowing that he’s been by my side for so long that I don’t think—It’s just kind of almost like a loyalty thing. Like, I know that he’s here for me.

JULI: It’s so important to have someone to advocate for you when you can’t advocate for yourself, because that’s exactly what happens when I start experiencing these symptoms. Sometimes I know what’s going on, I just can’t get the words out. Other times I’m really not aware of my surroundings.

It’s very important to have someone there for you that can explain to them what’s going on. That has that letter there for you. And that can talk to the staff.

ERIN: It starts off, she’ll say she’s not feeling great. She’ll say she has a headache. She’s tired. Normally she’s just sweet, delight and everything, but when she starts to get a little “un-Juli”, then we know, okay, we should probably call the hospital.

I find myself explaining to very highly educated people what this is, which is just funny for me to be doing that. But they just don’t run across it. It’s that rare.  And the biggest thing is we need to treat the symptoms as quick as possible.

JULI: The scary thing is too a lot of ER staff don’t recognize these symptoms, they may think you look like a drunk person coming in, and they don’t know what signs or symptoms to look for. They don’t know that you need to go back and get your blood drawn, check your ammonia, check a few things, get you started on the medication that you need.

It can be very frustrating when you’re trying to explain it to someone that’s supposed to be there to help you and take care of you and you’re telling them exactly what it is and what you need.

ERIN: I have a letter from their genetics team says that they immediately need to contact them, and they will give them orders and what to follow.

You want to advocate but keep calm because A. they don’t want to be told how to do their jobs even when they’re doing it incorrectly, and B. they don’t want anybody kind of dictating they’re protocol that they’re used to. Luckily the last couple times it’s happened, the genetics team has gotten over there quickly or at least communicated what needs to happen. And then they’re like “Okay well your team has told us this is what we’re going to do” and then I feel really good. They’ve got it under control.

Her doctor can look at her and say, “oh, something’s not quite right today. Cause she’s not her bubbly self.” I think that’s as important as anything. Having some medical professionals know what you’re like normally.

JULI: Yes, because I’m a completely different person. I am not the same person in the hospital that I am in real life. Sometimes they seem surprised that I hold a full-time job because like you said, I have zero decision-making skills. Even if I think I do, which is the hard part. Sometimes I think I’m fine, but Erin and people that know me, know that I’m not fine. Just knowing me in real life, knowing what I’m normally like. Having a good team that you can trust, because you really are trusting them with your life. It’s very important.

Amy:

It took me a few times, but now I’m that hospital mom momma bear. …After the lab techs come up, and they poke her twice…I’m the mom that’s not afraid to ask for the anesthesiologist because…if they waste 6 different poke sites, just trying to start one IV, we’re gonna be in trouble for that whole hospitalization.

And I had had different experiences with doctors and hospitals, so I knew right away that if you walk in and you act like you own the meeting, you own the meeting. And that’s what I did.

You have to be aware of what’s going on. And you know your child best.

David:

Thank God for doctors.

…They’re trying to do their best to serve you… So you have to treat them well. But at the same time you have to be an advocate when you present to a, ah, an emergency room or a medical situation with your child.

You won't get it from yelling. Don’t do anything like that. Just persistently be an advocate for your child.

You have to do it as a parent, and we’ve been teaching our son, to be his own advocate.

Do it sternly, firmly, consistently. Do not back down. If you do not get results, find somewhere where you can.