Living With a Urea Cycle Disorder

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.

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…

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