All individuals featured in this website have experience with Orfadin but may no longer be on treatment.

You know those life-changing moments that will never fade from your memory? Mine came in the form of a phone call eight days after we brought our brand-new baby daughter home from the hospital for the first time.

On the other end was a nurse from our pediatrician’s office. One of Claire’s newborn screening tests had come back abnormal. My husband and I were both in shock. How could this be? Everything seemed fine when we brought her home.

We went to the doctor the next day. He told us that Claire had a metabolic disorder called hereditary tyrosinemia type 1 (HT-1). She would need to be on medication, formula, and a low-protein diet for the rest of her life.

My husband and I were devastated. So many questions flooded into my head: How did this happen? Why did this happen? Where did this come from?

I knew I had a lot to learn, but I was going to be my daughter’s advocate every step of the way.

Claire’s HT-1 affects the whole family. Because we have to plan for every possibility, we’ve lost some of our spontaneity. But we don’t really have to make sacrifices. We just always try to stay one step ahead. When we go on vacation, for instance, we drive so we can take a cooler filled with low-protein food, and a toaster oven to cook it in. When we eat out, we’re very careful about selecting restaurants that will have things that Claire can eat.

Right now, my husband and I record what she’s eaten, but someday soon, Claire will be able to do that herself. Every day, she’s becoming more independent. Some days she wants to help make her lunch. When I’m not pressed for time, I want her to be involved. One day, she’ll be the one making decisions about what to eat. She’s very good about remembering to read the labels and weigh her food. She knows the importance of taking her medicine now, and sometimes I worry about whether she’ll keep it up during her teens and college years. But I try not to get too far ahead. I try to focus on what’s right in front of us.

When Claire was first diagnosed, we felt so alone. It’s comforting to know there are other families who are faced with the same concerns we are. That’s why I’ve become so active in the HT-1 community. It’s become a huge part of our lives. I hope that by sharing our story, I can make the journey a little easier for other families living with this condition. And I look forward to the day when Claire will share her story as well. Having a supportive community that understands what you’re going through is invaluable.

It isn’t easy to have a child with HT-1, but we’ve been able to adjust by planning and staying one step ahead.

Today, although that life-changing phone call is imprinted on my memory, I have so many more happy memories with Claire and our family. Most days, Claire is a joyful, optimistic, silly kid. She doesn’t let HT-1 stand in her way. And neither do I.

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Cold, blustery weather offers the perfect opportunity to huddle up inside and enjoy a hot, home cooked treat with friends and family. Below you’ll find three protein-conscious dishes perfect for warming up on a winter’s eve.*

Have a recipe you’d like to share?
Email us at eats@orfadin.com.

*Every patient with hereditary tyrosinemia type 1 (HT-1) is different. Talk to your doctor about what’s appropriate for your specific medical and dietary needs.

Dig around before digging in

If they have a menu online, check it out to make sure the restaurant has some HT-1-friendly options. You may also want to call and ask if they’re flexible about substitutions.

Go gluten-free

Some restaurants have gluten-free menus. Ask your server if they offer one. If they don’t, look for the little asterisks or symbols next to the menu items. These are sometimes used to call out specific types of dishes, like vegan, nut-free, or gluten-free options.

Look to the sides

The sides section of the menu usually has plenty of low-protein options, including french fries, cooked vegetables, salads. Try mixing and matching or opting for a double order.

Instead of cheeseburgers

Try low-protein veggie burgers with plant-based cheese

Instead of hot dogs

Try tacos with grilled veggies

Instead of bbq chicken

Try BBQ cauliflower

Instead of pulled pork bbq

Try pulled jackfruit with BBQ sauce

Instead of grilled meat

Try grilled eggplant + portobello mushrooms

Instead of ice cream

Try dairy-free ice cream, sorbet, or Italian ice

Instead of pasta salad

Try zucchini noodle salad

Instead of strawberry shortcake

Try strawberries and coconut-based yogurt

Other tyro-friendly summer treats

S'mores with dark chocolate, all-fruit smoothies, grilled pineapple, veggie kebabs, corn on the cob, fruit salads + veggie salads