Urea Cycle Disorder (UCD) Frequently Asked Questions (FAQs) and Resources

My journey to diagnosis was kind of a rough one. My whole childhood, I would get sick. We would, you know, go, out to eat and I would get sick shortly after. And my parents kind of always just attributed it to, you know, car sickness, or, you know, food not agreeing with me. But when I was 13 and, you know, things were starting to change, I had what they call a catastrophic event and I got really, really sick. My mom is an asymptomatic carrier. She doesn’t present with symptoms at this time. And she, you know, brought that up to them as kind of a last resort, you know. Like, I’m a carrier of this. Could this have something to do with it? And, you know, they were like, ‘You don’t know what you’re trying to diagnose, Ma'am’, you know. And, sure enough, they finally ran a blood ammonia test, and it was, you know, near 1,000. And I was in really bad shape but I’m really grateful, because you know, I think there's kind of a silver lining. My parents lost a son when I was 3 and that’s how my mom found out she was a carrier because it was before the newborn screening tests. And I just kinda think that, you know, had she not known that she was a carrier, that could have been a very different outcome for me.

So, my journey to diagnosis was actually through my last child. I live in Connecticut, so they do various tests on the newborn screening. And, sure enough, day 2 of his life, the NICU had come up and had told us that results had come back abnormal.

And they had thrown the OTC word at us. And they said we don’t really know if this is what he’s dealing with but it kind of seems like this might be it. They had finally said, ah, he does have the OTC, so it would be wise for you to get checked out ‘cause you’re possibly a carrier and you could become symptomatic. I did the test and sure enough, within like three or four weeks, I found out that I was an OTC carrier. 

Mine, ah, was similar to, to yours [Marie] in the beginning. I found out through my second-born. My oldest son, he was born a normal, healthy baby. We didn’t suspect anything wrong initially. He was my second child so we went home, actually, the next day. I called, you know, the doctor. They also do the newborn screening. So, ah, the results of that had come back kind of wonky. Ah, they wanted to do additional testing. It was more testing and more testing, and then finally the results from the genetic testing came in and did confirm that he had OTC deficiency. So, then they said, okay, you know, usually, the mother can be a carrier. So, they wanted to have me tested. I was confirmed a few weeks later that I am a carrier.

Frankie, do you feel a sense of community when you meet other women with OTC?

Absolutely. Yeah, it’s like we all share a bond, ah, that really goes without explaining. Like we feel, I mean, we spend so much time explaining ourselves to everyone else in our lives. Whether it is our family or work or anyone that we run into. Like, they don’t know what this is. So, we’re always explaining ourselves.

So, when you meet other women, and this is for me and my experience, I feel like it goes without saying that we share the same thing that’s going on, and it’s nice not to have to explain myself. And then it’s also nice to feel like I’m not alone. You feel like no one quite understands what you’re going through when you’re not feeling well. It’s hard to find someone to relate to that. So, when you do, like, it’s like an instant connection and an instant family.

How about you, Marie?

Like you said, when you meet women who are dealing with the same stuff, you don’t need to spend time on the back story. You just get that sense of relativeness with other women. Ah, it’s a relief. It’s a relief to be able to share your stresses. And all the other stuff in between that comes with this disorder. 

What about you, Aimee?

It is a very isolating diagnosis and disease. And, I used to not wanna talk about it ‘cause I thought I was alone, and no one would get it. But, you know, as I’ve, you know, grown, I’ve met more people and…it’s so exciting to know that like there’s this instant connection of like you, you get it. You just understand what each other’s going through. Even though your stories might be different and have different, you know, challenges or different components, you, you ultimately understand one another. And that’s been so amazing.

It’s important to share my OTC story with people because the symptoms of OTC especially in carriers are very subtle and, I’ve lived with it my whole life and it affected me terribly and I want to bring awareness to other women, to possibly help them.

I learned that I was an OTC carrier when I had my son

You know, when I was taking biology courses in college, we studied OTC… And, when the doctor came in and told me that he thought Payson had OTC, I literally looked at him and said, there’s a 1 in 80,000 chance. I was like I have a better chance of winning the lottery. (laughs)

After they had determined he had OTC I was tested.

When I received the result that I was a carrier I felt a sense of relief at first, because I finally, you know, knew what was wrong with me… you know, of course I was devastated the fact that my son had it

I think most mothers when they find out that something’s wrong with their child, they start blaming themselves. And that is, um what I did….

You know and…that’s a pretty heavy burden to have on you.

But the initial reaction was relief.

…Everything kind of clicked as to why I’d been having these symptoms since I was a child, and no one could ever find answers for them.

Even though you may not be as sick as your child, OTC carriers can still have symptoms.

The most common symptoms that I experience are blurred vision, migraines that last for days, nausea and, ah, not having mental clarity.

The best advice I could give, on being an OTC carrier is get treatment.

Taking, a medication and making dietary adjustments has definitely helped with the symptoms. I have much more energy now and the episodes are much shorter-lived.

I used to think that having these symptoms was just something I had to live with and didn’t realize that there was anything I could do to make it better. And I wish I had of known then that I had OTC and that there was help out there.

My name is Aubrey and I’m an OTC carrier.

Now I know what a difference treatment can make.

I wanted to share my OTC story because I felt alone in the beginning.

So, I want other women…to know it’s gonna be okay.

…I want them to know that you’re not alone.

I found out I was an OTC carrier through my son… we found out that he was a patient with OTC. So, the genetics team had recommended that I get tested.

I decided to do it because maybe deep down I knew that there was something wrong and I just kind of pushed it in the back of my mind.

When they called me and told me that I was a carrier…

…I felt guilty, cause I hadn’t tested myself before having children. But, how would I have known anyways?

I definitely [also] felt relieved... It gave me the answers that I needed.

I started to realize that things that I had lived with my whole life I thought were normal, they weren’t.

…the crucial headaches that I got.

…the lethargy where you just can’t shake it off...

…a big one was brain fog. And that’s something that I’ve lived with my whole life. …I just couldn’t focus.

Ah, I never once thought that it had something to do with like an underlying issue.

…and suddenly just knowing you have OTC, it clicks.

…now that I know what I’m dealing with, I have the proper management to take care of myself...

I know how to move forward.

My name is Marie and I’m an OTC carrier.

Now I know I wasn’t going crazy. I was having symptoms.

...When my son was diagnosed, he was confirmed OTC deficiency at eight months old. They then wanted to test myself and my oldest daughter to see if we were carriers of OTC. And I was confirmed a carrier of OTC deficiency.

It’s important for me to share my OTC story because…

…people hear the word carrier and they think that that’s just it.

That you just carry the gene.

…You don’t hear the word sick.

…I mean, I was told…that carriers aren’t symptomatic… And that’s, that’s not the case always.

Especially with OTC.

…We can be symptomatic as well.

Symptoms I experience as an OTC carrier are migraines, fatigue, and…brain fog.

…There were a few dots that we connected from…early childhood.

I didn’t like to eat a lot of meat.

I just naturally avoided protein.

And that was at a time when it was like, you sit at the table until you finish your dinner. And I wouldn’t finish my dinner. You know?

…As I got older and I was able to control my diet and pick what I ate and what I didn’t want to eat, I felt better.

I had really bad migraines.

Oh, my goodness. The migraines were awful when I was growing up.

I never in a million years would have thought that it was actually symptoms of OTC deficiency.

It wasn’t until…a few years ago when I connected those pieces. Like, wow. This makes sense. This, this is what that was.

Being an OTC carrier…

…it’s important to recognize those symptoms when they happen, even if they’re very mild.

…There is a way to manage them and to live your best life.

I feel that advocating and spreading awareness…and sharing my story is important. …You know, we’ve learned so much over just the last ten years. …And it’s from making our stories heard.

My name is Frankie and I’m an OTC carrier.

Now I know OTC carriers can have symptoms.

Frankie: People hear the word carrier and they think that that’s just it. That you are just a carrier. You don’t hear the word sick. You don’t hear the word symptomatic.

Aubrey: We’ve had doctors, certain physicians, that didn’t really understand OTC. Even by the medical community, it’s not fully understood. I am symptomatic, you know?

Frankie: OTC carriers can have symptoms.

Frankie: Sometimes carriers think that they don’t have OTC symptoms because they’re not as sick as their kids.

Frankie: Our symptoms vary just as much. Our symptoms could be very mild to more extreme.

Marie: Everyone’s different.

Marie: My doctor told us that with the OTC, I’m going to react differently than my son is.

Frankie: Even if you haven’t experienced any symptoms as an OTC carrier…they could come at any time. It could be hormonal changes. It could be outside stressors. A traumatic experience. There are a lot of different things that could trigger those symptoms to start.

Marie: I definitely asked myself why it hadn’t happened sooner. I went through puberty, and I had two pregnancies prior to Raul. Nothing major ever happened. My doctor had told me that I had met my threshold. That it was just this pregnancy was what completely kicked it, everything off balance.

Aubrey: I used to think that having these symptoms was just something I had to live with and didn’t realize that there was anything I could do to make it better. And I wish I had known then that I had OTC and that there was help out there.

Marie: Now that I know what I’m dealing with, I have the proper management to take care of myself.

Marie: Knowing how to manage has helped me cope better. Has helped me be a better mom, a better person to myself.

Marie: It’s very scary but it needs to be known. And once you know, you can go forward.

Marie: My doctor told me that I should get genetic testing done because of my son’s condition. OTC is inherited and I’m most likely the carrier.

Marie: When they called me and told me that I was a carrier I felt really guilty, and I felt like I potentially ruined my son’s life ‘cause I hadn’t tested myself before having children. But, how would I have known anyways?

Frankie: With the genetic testing it was confirmed that I am a carrier of OTC deficiency.

Frankie: With that diagnosis came a lot of questions. A lot of unknowns. A lot of guilt. A lot of guilt came with that.

Frankie: That feeling that you may also be sick, too, but not as sick, there’s, there’s a bit of guilt that comes with that. You still have symptoms. And you still have to manage those because, really, you can’t care for a sick child if you’re not caring for yourself. That was a big moment for me to understand that part of it.

Marie: I have definitely been one of those moms that have prioritized my son’s needs over my own.

Marie: It’s important to take care of yourself because you are the base of your whole family unit. You have to make yourself a priority and don’t feel guilty for doing so.

Frankie: I wish someone had told me not to feel guilty. That this isn’t something that I chose.

Frankie: So, my advice to others is to ask for help when you need it. And to know that that’s okay. That it doesn’t mean that you can’t handle it. It’s just, you may need a little bit of extra help and support and that’s, that’s really okay.

Marie: I felt alone in the beginning when we found out everything.

Marie: I wish someone had told me that it’s gonna get easier. That there is hope.

Marie: If I had one piece of advice to give others, it would be to take one day at a time.

Marie: I want to let them know that, you know, it’s gonna be tough, but it’s gonna be okay.

FRANKIE: My symptoms start…and usually…there’s a trigger, there’s a reason behind it. It’s something out of routine for my day, where I was more physically active, or stress, even stress can really add to that.

FRANKIE: Symptoms I experience as an OTC carrier are migraines...fatigue… and fog, brain fog.

MARIE: …headaches, aggressiveness, brain fog, and lethargy.

AUBREY: …blurred vision, migraines that last for days, nausea, and not having mental clarity.

MARIE: When I have an OTC headache, it feels like my pressure point is at its maximum right here. I feel like there is a block on my head and…it doesn’t come off.

FRANKIE: There have been times…where I am in like a brain fog, and I just can’t really figure out where or what needs to be done. And I feel like I’m going in circles. I feel like I’m not really getting anywhere when I need to be.

AUBREY: Over time elevated ammonia levels have a negative effect on the brain. Meaning that it causes brain damage.

AUBREY: When I found out I was a carrier, the doctors discussed what I could do to manage my symptoms such as diet. Limiting stress and no heavy exercise.

AUBREY: The thing I feel most helpful in managing my symptoms has been the addition of…an ammonia scavenger. I was really unable to just manage it alone with diet.

MARIE: The things that I do to manage my OTC symptoms are low protein diet, medication, and keeping hydrated.

MARIE: I feel like it’s important for OTC carriers to manage their symptoms because the health part starts with you.

MARIE: You are the base of your whole family unit.

MARIE: When the genetics team called me to tell me that they were going to put me on medication, I thought to myself that this is really serious. And, I started thinking about when I’m home with the children and…something happens to me, what am I going to do? It really scared me enough for me to obligate myself to have to take care of myself.

AUBREY: If you are having symptoms, I would definitely encourage and recommend that you talk to your doctor.

AUBREY: Taking a medication and making dietary adjustments has definitely helped with the symptoms. I have much more energy now…and the episodes are much shorter-lived.

Being diagnosed with a urea cycle disorder can feel overwhelming. Understanding more about it can help. A urea cycle disorder, commonly called a UCD, is a genetic disorder a child is born with. The child inherits a defective gene or genes from his or her parents, or has a spontaneous genetic mutation. People can be diagnosed with a UCD at any point in their life. No matter the age, when food made up of carbs, fats, and protein enters the body it is broken down in the digestive tract. Protein is broken down and leftover ammonia, or urea, is eliminated from the body through a healthy urea cycle in the liver. For a person living with a UCD, the urea cycle isn’t working correctly and ammonia can’t be removed properly.

There are different types of UCDs. The most common one is ornithine transcarbamylase deficiency or OTC. The name of the UCD is based on which enzyme or transporter isn’t working properly in the urea cycle. A healthy urea cycle turns toxic ammonia into urea so the body can get rid of it naturally. For a patients living with a UCD, the ammonia stays in the body and builds up to toxic levels in the blood.

Common signs and symptoms of high ammonia levels to watch out for include vomiting, headaches, aggression, and feeling very tired. When this happens it could signal a hyperammonemic crisis, which is very serious and requires immediate medical attention, because it could cause a coma, brain damage, or even death.

There are options to help control high ammonia levels due to a UCD. They include a low-protein diet, amino acid supplements, and other options your doctor can discuss with you. A UCD affects everyone differently, so make sure to always talk to your doctor to learn more about your UCD and possible ways to manage your ammonia levels.

Most people think a urea cycle disorder, or UCD, is a condition that only affects the liver. But it might surprise you to learn that the most serious damage caused by a UCD actually happens in the brain. Symptoms like forgetfulness, a short attention span, moodiness, and trouble with problem solving, all result from a UCD. It all starts with ammonia. Ammonia can travel through your blood to your brain, and it is harmful to your brain cells. High levels of ammonia may cause your brain cells to swell and malfunction which may damage them to the point that they no longer work at all. It’s important to remember that even though you can’t see this happening, higher than normal ammonia levels are dangerous to your brain. One instance of elevated ammonia may not cause a permanent or obvious problem. But the more often your ammonia levels are elevated over time, the more likely it is that the damage to your brain will be serious and permanent. Even if you’re not having a hyperammonemic crisis, high ammonia levels that are high enough to cause symptoms can still lead to permanent damage. So what can happen when brain cells are damaged? You may not notice the effects right away or even realize that they’re related to your UCD, but the problems that result from the damaged brain cells can affect your everyday life at home, at work, or at school. You may have issues like remembering things, difficulty making decisions, mood swings, and problems with thinking. Damaged brain cells may also cause you to function at a lower level than a typical person your age. Keeping ammonia levels low can help prevent damage to your brain over time. The best way to do this is by sticking to the management plan recommended by your doctor, which may include a low-protein diet, dietary supplements, and an ammonia-removing medicine (also called a nitrogen-scavenger medicine). Not following your low-protein diet or not taking your dietary supplements and medicine, even when you’re feeling healthy, can cause ammonia levels to rise. It’s very important to stick to the management plan your doctor has created for you and to take all the supplements and medicines as prescribed. So, remember, the major effects of high ammonia are actually on your brain which can cause serious symptoms. Tell your doctor about any and all symptoms you experience, even if you don’t think they are related to your UCD. And make sure to talk to him or her about your management plan and whether you should make any changes to help keep your ammonia levels under control.

One of the most important concerns that we have with patients with a urea cycle disorder is that their chronic exposure to ammonia or having high levels of ammonia, and that ammonia builds up and affects your brain. A hyperammonemic crisis is when your body starts breaking down protein and building up ammonia. That build up can lead to toxic levels of ammonia, leading to a crisis that could potentially end up in coma or brain damage. The 3 most common signs of hyperammonemia in a patient with a urea cycle disorder include a headache, vomiting, and increased sleepiness. If you think you’re experiencing a hyperammonemic crisis you should call your emergency phone number for your metabolic team immediately and head to the emergency room. 

It’s important to talk to your physician about your urea cycle disorder because knowledge is power. If you understand your illness, you can have a better outcome. There are 3 things you should share on your first visit: your questions. If you do not understand your urea cycle disorder, you should ask questions. You should also explain your fears. It is very important to have this connection and communication with your physician because you may fear some things that may not be real, and explaining that to your physician, they’ll be able to comfort you or explain to you in a better way so you can understand. And, what are your goals, so that as a team you can come up with a management plan. If you have been diagnosed with a urea cycle disorder, you should know that the metabolic team is here for you. We are here to help you. We have developed a program to make you that you and your family is well taken care of. 

Proper management of a urea cycle disorder, or UCD, may mean seeing different specialists throughout your care journey.

Sometimes you will see a few at once, other times you will meet only one of them.

Each specialist on your care team has an important role to help manage your UCD.

A metabolic geneticist creates your UCD management plan and adjusts your treatment, as needed.

A registered dietitian works with you on creating a nutritious diet for your particular needs, to ensure you get the right amount of protein for growth and development at different points in life.

A neuropsychologist will help you identify and build upon your intellectual strengths.

A genetic counselor helps explain how a UCD is passed down and provides support for discussing the diagnosis and genetic testing with family members.

And, a mental health counselor is there to help manage stress, overcome obstacles to achieve goals, talk through family and personal problems, and promote self-care.

Watch the videos below to learn more about some of the specialists…

and prepare for visits by getting your free Care Team Tracker. Use the tracker to track symptoms, appointments, and questions for your doctors.

My name is Barbara Burton. I’m a geneticist at the Ann and Robert H. Lurie Children’s Hospital in Chicago. I’m also a professor of pediatrics at the Northwestern University Feinberg School of Medicine.

As a geneticist, I have expertise in this one group of genetic conditions called metabolic disorders. That involves diagnosis and then if a diagnosis is established, ongoing treatment.

Geneticists—we’re typically the leader of a team caring for patients with inherited metabolic disorders...Certainly always involved in the care of a UCD patient…We’re responsible for diagnosis, medical decision making, prescribing therapy.

Collaboration with the metabolic dietitian, it’s extremely important and it’s ongoing…For patients on protein-restricted diets, our metabolic dietitians often become the closest member to them of the care team.

At the beginning, the diagnosis of the condition, is just overwhelming. Typically, we’re telling patients their child has something they’ve never heard of. So, I try to explain what the urea cycle is, what its normal function is, how it’s disrupted in this condition, and how the condition happens. Of course we have to explain it’s genetic and, you know, how it works…I explain then, what we do long-term. What our care plan is for right now and moving forward. But you can’t really do it all in one setting. It’s just too overwhelming…In addition to our face-to-face discussions, we give patients written materials, you know, that allow them to go home and read. We point them to web resources where they can get more information.

It’s really important… that we have really good communication.

There’s a lot of education that goes into this, because this is something that’s just totally new and foreign to almost everybody...We can’t work on the solutions if we don’t know what the problems are.

To make the most of their visits, I like for patients to be prepared with all of the information that we’re going to need to have to discuss their care. So I’d like them to come in with a list of all the questions that they want addressed at that visit...What their concerns are. I’d like them to have a list of any medications they’re on that I’m not aware of. Perhaps they’ve been prescribed by other physicians...Any other health issues that have arisen since I’d last seen them.

Living with a UCD—it’s tough. And there’s no question that it’s stressful. I think one of the things I try to tell patients early on is that it will get a little easier. When everything is so new and it’s so overwhelming, of course, it’s very challenging. But over time, some of the things that they do in terms of diet and so forth will become much more routine.

The biggest things are preparation, communication…empowering patients to know that they need to speak up.

Call our office any time they have a concern. I think that it’s really important that families not feel like they’re bothering us. We want those calls. We need to know what’s going on with the patients.

My name is Laurel Calderwood. I am a licensed and certified genetic counselor in the state of California.

I take care of patients who have metabolic conditions and that’s anyone who has a genetic disorder that affects the way their body is able to break down the food we eat and produce energy for the body to function.

Urea cycle disorders are a type of metabolic condition, so I see UCD patients somewhat regularly and I provide genetic counseling.

Parts of my job are talking to parents of newborn. Parts of my job are talking to adults who are managing their own care and those conversations are so different.

I really want to address all of the questions to them. See what they know. See if they understand why they’re taking the different medications they take. See if they understand why they even come to see us.

One of the things that’s really unique about my job as a genetic counselor is getting to follow my patients throughout their life. I get to develop that long-term relationship with them over time. They know they can trust me.

Through childhood, it’s answering questions as they come up.

As they become teenagers, I try to involve them more and more in the process. I always hope that they have more in-depth questions for them to understand for themselves about their condition.

And then with adults, you know, talking about the very real challenges of maintaining your health throughout your lifespan, as you’re maybe going off to college, as you’re maybe planning your family.

Why did this happen? Where did this come from? There’s no one else in my family who has this. I think that’s one of the things I hear the most common. Most urea cycle disorders are inherited in what we call an autosomal recessive fashion. In order to have one of these conditions, you need to inherit a genetic variant, or sometimes we use the term genetic mutation, from both parents. Those genetic variants can be passed on from generation to generation within families.

OTC deficiency is actually inherited in a different way, in what we call an X-linked manner. The OTC gene is located on the X chromosome. When there’s a variant, the OTC gene won’t work and that will cause a urea cycle disorder.

People have really different philosophies about what it might mean for them to carry a pregnancy with a urea cycle disorder. When we know a current pregnancy is affected with a urea cycle disorder, that’s actually helpful information for us to know ahead of baby’s birth, because then we can make a plan.

I have had that conversation quite recently actually. You know, a woman who is early in pregnancy had the multi-gene screening and found out that she had a variant in OTC.

So, we knew she was pregnant with a boy. And we were trying to do our best to counsel about what that meant, you know, for her son. And we went through the different scenarios of, you know, what if he’s not affected? What if he is affected? Basically, anything we can do to prepare them for the logistics of it.

My name is Casey Burns. I’m a metabolic dietitian at Children’s Hospital, Colorado. I’ve been working with patients with UCD disorders for 15 years.

A metabolic dietitian works with UCD patients to help them develop their diet. They also help them to come up with recipe ideas and different ways to ensure that you can manage your diet successfully on a routine basis.

When establishing a diet for a UCD patient and the ongoing care, we work as a team. Everybody works together to help make the diet and UCD management as successful as possible.

So when a patient is newly diagnosed, the dietitian is involved right away…We work closely with the physician to establish what the protein restriction needs to be. We also look at what medications we’re going to use and how we’re going to balance those two things.

A newborn is seen pretty frequently—probably monthly but we also try to get lab orders every week with updated weight so that we can ensure we’re monitoring that growth really closely and adjusting the diet as needed.

The teenage years are definitely a struggle for a lot of families. It’s a matter of educating your child to understand why it’s important to stay on the diet. Talking about best practices for those teenage years, where it really is a struggle that they just wanna be a kid, you know?

And getting them to understand, well, this is what happened, and this is why you feel that way. And now, let’s talk about how we can make this better.

As you grow, your allowed protein amounts get higher. It is a little bit easier that you can use the labels that are on the food.

The best thing you can do is bring diet records. Even though we know that they’re not perfect and we know that they’re not always gonna be the most accurate. It at least gives the dietitian the ability to look at it and get a pattern of what they’re eating and get an idea of what types of things they like…As we age, our needs change…It’s important to be open with your dietitian. If I don’t know what’s happening, I can’t help you come up with a solution to fix that problem.

It’s really important to have that good communication, especially with the dietitian, because so much in the world just revolves around eating. So, feel comfortable coming to your dietitian to say, hey, what do I do in this scenario?

Your child’s attending a birthday party and that’s fantastic. You want them to still be involved in everything that every other child gets to do…So, every other kid is going to be getting cake and you don’t wanna offer your child an apple, because that’s not a fair substitution. And that’s gonna make them then run off and try to sneak cake later. So, they’re having pizza at the party and they’ll have cake and ice cream. So now I’m gonna make sure that there’s a low-protein version of pizza, cake, and ice cream for my child so that they don’t feel left out.

At the grocery store, the important things to look at is the nutrition facts. On every boxed product, they have a nutrition facts label that will give you the information of what is a serving size. It’s really important to understand how much can you eat for the amount of protein that’s there.

It says a serving size is a half a cup and that there’s one gram of protein per half cup. So, it’s important for you to understand to measure this and get an idea, OK, that provides one gram of protein. And that will give you that information to then be able to say, yes, this is a good food choice or, no, this is not a good food choice.

Understanding your diet. It’s really important to make sure that you’re eating and getting full and understanding what things are acceptable for you to eat.

Changing up flavors. There’s really easy ways to change up the way certain foods taste by just adding a few different spices.

Being open and honest with your care team. If you’re struggling, talk to us, because there may be another option out there that you just don’t know about.

It’s really important for patients to feel empowered to take care of their disease. We start very young in educating the patient...and talking to them about what their disease is, how we manage it, and why we manage it…Getting them to understand what their diet is for. We wanna protect your brain, we wanna keep you healthy, we wanna keep you active, hanging out with your friends.

Hi, my name is Stephanie Offord. I am a nurse practitioner at Children’s Wisconsin, in Milwaukee.

An advanced practice nurse practitioner is a nurse who has additional training, specifically in the field of genetics, alongside geneticists and genetic counselors. We’re able to diagnose, treat, and manage patients with a multitude of genetic conditions.

I see patients often times alongside a dietitian or genetic counselor, depending on what’s needed for that visit. I help manage an individual’s urea cycle disorder, make medical management decisions or adjustments to medications, and then diagnose UCDs for new patients…The nurse practitioner and the dietitian are the ones that are managing their care on a day-in/day-out basis.

We see individuals from newborns, up through adulthood.

There’s a lot of challenges that come with UCD management. It’s a life-long condition and so with that, I think the biggest challenge is really life-long compliance. It’s following a diet...No diet is fun.

The biggest priority is having family understand the importance of diet, if we’re implementing a diet. The importance of them following that diet...and, the gist of why they’re needing to do it.

We work to have children grow up... slowly take ownership of their urea cycle disorder management. Whether that’s count out their daily protein…knowing how much medication they’re supposed to take and when, so that by the time they’re leaving for college or moving out of the house, they have ownership of UCD management.

We’ve gotten to a place where there’s a lot of different people that eat a variety of different foods for a variety of different reasons. You know, there’s gluten insensitivities and a lot of different food allergies...There’s a lot more variety and finding alternatives has become much easier than where we were 20, 30 years ago.

We always encourage patients to come with questions. When we’re seeing patients that are more newly diagnosed, a lot of times families come with specific questions...In some different aged kids, families can even come sometimes with diet records…We want to make sure questions are answered. And we want to make sure that they feel supported and encouraged in these visits.

In my experience, individuals that track their diet, the foods that they’re eating…they’re more conscientious of when they’ve taken their medication. It makes visits easier, cause we can kind of walk through and get a really good idea of what they’ve really been eating, and where they’re really aiming, and where are their struggles. So, we encourage patients to get into the routine of doing it.

Urea cycle disorders are complex, and they include a number of different facets, and a care team that’s going to follow you. To achieve optimal safest care, stay plugged with your care team. Be honest. Always be honest with your healthcare team. We don’t know how to provide the best care for you if we don’t truly know what’s going on. I promise you, we’re always going to do our best to meet you where you’re at.

Try your best to follow with diet and/or your medication. They really do work in tandem.

Communication absolutely is key. We want to build a trusting and good working relationship with these families, so making sure that they feel comfortable reaching out to us for, for anything, is important. Some families really do, you know, message us every day with different questions. That it’s totally okay.

Hi, I am Lauren Krivitzky, a board-certified pediatric neuropsychologist at the Children’s Hospital, Philadelphia.

A neuropsychologist is a type of psychologist who specializes in understanding the relationship between brain and behavior. We really help children and families better understand if they have some differences...neurologic differences... brain differences...how that might affect things like their learning in school, their behavior at home, their mood, and their ability to socialize with their friends.

A neuropsychologist focuses on helping people be successful in all of the places in their life. So, for a child, that might be successful going to school and with learning, being able to have friendships, and be a part of whatever activities they wanna be a part of. So our job is to help maximize those things for them and find ways in which to really use their strengths to help them be successful.

As a neuropsychologist, you know, our focus is not so much on their medical care, but really on helping live the best life that they can. So, to be successful in school, feel good about their learning, to make friends, and integrate with their community.

A neuropsychologist can be involved from very early on. If a child is diagnosed through newborn screening or, you know, at birth, neuropsychologists often get involved, you know, within the first two years of their life to better understand their development. For example, if a child is having signs of some kind of developmental delay, they can be involved in evaluating that child and helping to get them the services they need, even under the age of 3.

As a neuropsychologist, my plan is to follow a child over the course of their development at different developmental points.

When children are getting into the preschool and early school age, we wanna help them transition to kindergarten. Then, elementary school, middle school, high school. Each of those transition points are often a stressor for patients with urea cycle disorders, and so those are natural time points for us to reevaluate how the patient is doing, the plan we have in place, and make new recommendations to help them during that next phase of their life.

In a neuropsychological evaluation, we evaluate things like intelligence, academic abilities, memory skills, focus, and attention. We take all this information we gather to better understand someone’s strengths.

My goals for the evaluation is really to best understand what are the things that a patient is doing really well in the real world…and coming up with a list of strategies that you can use to be successful.

Having a chronic illness, any chronic illness, takes a toll. So it’s really important from the beginning to really also keep your eye on how that condition is affecting their mental health, their cognitive development, their schooling.

One of the biggest pieces of advice I always give people is to be proactive.

Set out some sort of goals for the future.

Continue to have a dialogue.

One strategy that I think is very helpful is doing one thing at a time. We give so many recommendations to parents and families, they feel very overwhelmed.

These recommendations are our roadmap and that I really want you to sit down and prioritize what is most important to you and let’s tackle one thing at a time.