Storyteller: Brianna Heim
Extraordinary Circumstance: Glutaric acidemia type 1
Book: Brave Betty & Her Besties
Words by Kelley Whalen
Design & Illustration by Emily Fitzgerald
Photography by Laura Williams
Edited by Jeri Larsen
BRIANNA HEIM is a lover of adventures, Wonder Woman, and anything that involves the need for speed. Bri is a sassy, sweet, and totally fearless thirteen-year-old. On the weekends, you’ll find her tearing up the trails, all the while urging her parents to go faster on their RZR; riding horses with the help of her yellow lab Emily; or like every thirteen-year-old girl, texting her besties about their next big sleepover. Bri has glutaric acidemia type 1, which means she can’t breakdown proteins. When she was a baby, this affected a certain part of her brain, so she learned some things—like speaking and holding a fork—a bit differently. Bri continues to prove doctors wrong with the amazing strides she’s made with her sheer determination and the love of two incredible parents who encourage her to shoot for the moon every single day. For those of us lucky enough to call Bri our friend, there is no doubt she is our very own Wonder Woman.
Read her book.
Copyright © 2019 by Dallas Graham. All rights reserved. No part of this book may be reproduced in any form by any electronic or mechanical means including photocopying, recording, or information storage and retrieval without permission in writing from the copyright holder.
Some images from her workshops.
Glutaric acidemia type I
Glutaric acidemia type 1 is a genetic disorder passed down from a parent. People with this disorder can’t properly breakdown three amino acids (which is a term for the body’s building blocks): tryptophan, lysine, and hydroxylysine. This causes the amino acids to build up and create problems. Symptoms include muscle weakness, spasms, difficulty moving, intellectual disability, bleeding in the brain or eyes, and unusually large head size at birth.
Some patients with this disorder have only mild symptoms, while others have very serious ones. Glutaric acidemia type 1 is caused by mutations in the GCDH gene. This rare disorder only happens in about one of every 30,000 to 40,000 births.
There’s no cure for glutaric acidemia type 1. Treatment is mostly focused on managing symptoms. It can include a special diet and an IV that helps provide supplements to a person’s blood. Because there aren’t many treatment options for glutaric acidemia type 1, many patients have a reduced life expectancy if issues occur. The outcome depends on how severe the disease is. However, if treatment is started very early, most people with the disorder won’t develop symptoms.
If you would like to learn more about glutaric acidemia, here are some other valuable resources:
Red Fred Project would like to thank our friends at Patient Worthy for their research and participation in sharing this very important information with us regarding this extraordinary circumstance. You can learn more about their work at patientyworthy.com.