Brie is 10 years old, and her favorite color is baby blue. She adores Hello Kitty and has a passion for painting and drawing. She also enjoys building with Legos, letting her creativity shine. Her favorite subject in school is science because she loves learning fascinating things, like how the human body works. Brie has a love for dancing and listening to music. She’s a social butterfly who thrives on making new friends.
 

Brie

Do you remember when you were told about your condition? How did you feel about it?
Surprised! I felt shocked and didn’t understand much about it.

What is it like for you living with ARG1-D?
It’s sort of hard, but it’s okay because I know I’m not the only person with it.

What are some of the biggest challenges you face due to ARG1-D?
My legs hurt and I get tired when I walk for too long. I can’t have too much protein or I could get sick.

What do you wish other kids or adults knew about what it’s like to have ARG1-D?
It’s hard at first, but it’s not scary after you get use to having it.

Vanessa, Brie’s mother

Can you describe the moment you first realized that there was something different with Brie?
I realized there was something different with my daughter when she began to have frequent nose bleeds and bruising. This led us to see different specialists, and within less than a year, she was diagnosed with ARG1-D. Just a few months after her diagnosis, she began to show spasticity in her legs and started having mobility issues. It was a heartbreaking realization that something serious was affecting my daughter.

How did you feel when you first learned about the diagnosis?
I was devastated when I first learned about ARG1-D. I worried about my daughter’s future and felt an overwhelming sense of uncertainty and helplessness. The fear of the unknown and the challenges ahead were unbearable.

Can you describe a typical day caring for Brie?
A typical day caring for my daughter with Arginase 1 deficiency involves extensive preplanning. Ensuring her meals for the day stay under 10 grams of protein is a constant challenge. I make sure she drinks her metabolic formula six times a day, even though she dislikes the taste. She wears her AFOs to help with muscle tone, despite their discomfort, and we go to weekly physical therapy sessions to maintain her leg strength. It’s a demanding routine, but it’s all done with love and hope for her well-being.

In what ways has caring for Brie impacted your personal and social life?
My daughter experiences rapid fatigue, so we always plan ahead to make sure she can tolerate our activities and outings. She has such a positive attitude despite her fatigue, but I know she wishes she could keep up with us more. When we go out to eat, we try to find meals she’ll enjoy, but her choices are limited, and I can see how much she wishes she could have more variety. It’s a constant balancing act, but her spirit and resilience inspire us every day.

What advice would you give to other caregivers who are supporting someone with ARG1-D?
A piece of advice I would offer is to build a strong support network of healthcare providers, family, and friends because this can make a significant difference in navigating the challenges of caring for a loved one with ARG1-D.