Our Kids /
Emerald
Glutaric Acidemia, Type 1, Age 2
This is our sweet Emerald Marie. We are from Little Rock, AR. After getting little help with her GA1, we then relocated to Wonewoc, Wisconsin. We are now seen by 17 specialist/therapist here in Wisconsin, and she is getting the best help. They even have a federally funded program for special metabolic needs such as protein free foods, and easy access to her special formula. Moving to Wisconsin was the best thing we could have done for our girl, and I highly recommend treatment here to other GA1 parents struggling to find a good team. Emerald is nearly two years old and is growing rapidly by the day!
GA1-Glutaric Aciduria type 1- is a metabolic enzyme deficiency disorder, basically her body can’t break down proteins. When proteins are not broken down correctly, they build up in the blood stream and go to the brain causing a metabolic stroke and/or damage to basal ganglia. When damage is done to the basal ganglia it can be as little affects to developmental delay, and as big as death. Every GA1 case is different. Like other rare diseases research is extremely limited. For Emerald she experienced a crisis at birth, we did not see any delays until she was about 6 months old. We had an MRI done recommended by another GA1 mom. That is when we found out she had a double subdural hemorrhage around her basal ganglia. She suffers with motor development, head control, speech delays, and daily activities of a normal two-year-old. We see 4 therapists a week, and we work with her multiple times a day. We have seen huge progress this last year! We ask for continued prayers, as it is not an easy journey but a doable one.
Besides Emeralds medical status she is a beautiful, sweet, and sassy two-year-old. She absolutely adores Cocomelon, Ms. Rachel, T-Pain, wrestling, and Mickey. She loves spending time with her cousins, as they play with her, push her in her wheelchair, and read to her. One of her favorite places to visit is the library. She is always in amazement of all the fun colors, and books available to be read to her.
We are glad to share a small piece of our story and hope we can become a resource to other rare families especially with GA1. I’d like to end with a quote from our most favorite book “I can do all things through Christ who strengthens me.” -Philippians 4:13. You are not alone in this fight.
#GA1WARRIOREMERALD
FB: WARRIOR EMERALD (FOR UPDATES)
Maranda R.
maranda.scheibner@gmail.com
(Thanks to Maranda and her family for hosting a Rare Disease Day fundraiser for OAA. Photos of this event are below. They raised $1170 for OAA!)
(From the Spring 2025 OAA Newsletter)