Meredith's Superhero Story – TESS Research Foundation

28 Jul Meredith’s Superhero Story

July 28, 2021 by tess

Meredith is a SLC13A5 Superhero. Here are a few fun facts Meredith’s parents shared with us!

Age: 3
Homestate: New York
Meredith is always happy, smiling, and very sociable. She loves to wave hi to everyone she sees.
Meredith loves water! The bath and pool are her fav.
She is a total fashionista and loves her clothes, shoes, and bows.
Her favorite song is ‘head, shoulders, knees, and toes.
Meredith’s favorite movie is Monsters Inc.

A Love Letter from Meredith’s Family

Meredith’s Medical Journey

Meredith Grace was born full term. During the first few hours of her life, she seemed extremely uncomfortable and would only be content in my arms. After a long delivery, my nurse knew I needed to rest. She suggested I put Meredith in the nursery to take a nap. While in the nursery, Meredith had trouble breathing, turned dusky and was rushed to the NICU. As the Dr. was inserting an IV, he noticed Meredith’s hand shaking, her first visible seizure. She was immediately hooked up to an EEG where they saw she was having multiple electrical seizures every minute. They also did a CT scan which was normal. They tried three medications to stop the seizures and none of them worked. The Dr. had to put Meredith in a medically induced coma and to give her more dangerous seizure medications to try and stop the seizures.

Meredith was in a level 3 NICU. They could neither stop the seizures nor figure out their cause so she was transported to a level 4 NICU. Within 24 hours of being born she was already in a coma and being sent to another hospital. We were in shock to say the least. As soon as she arrived at the level 4 NICU, they did an MRI, a spinal tap, and tons of blood tests. It was so devastating to see so much being done to our little girl. All the tests and scans came back negative.

After a couple days the seizure medications were working. The Drs. took Meredith out of the coma. They agreed the seizures could have been from some unknown trauma at birth, so they decided to take her off the medications, one at a time. Over the next few days Meredith was doing well. She was eating, off the oxygen and her EEG was negative. By the 3rd day of weaning (while still on 2 of the 4 seizure medications) Meredith started seizing and wouldn’t stop. She went in and out of seizures for hours turning blue and losing oxygen with each seizure. They finally got control of the seizures and put her back on the medications.

A genetics doctor was brought in. They took more blood, stabilized the seizures and after two weeks in the NICU, sent Meredith home to wait for the results and be monitored as an outpatient. About two months later we finally received the genetic blood results and got her diagnosis of SLC13A5. We were heartbroken and lost. We researched everything we could find but with only 10 other diagnosed children in the U.S. at the time, there wasn’t much information available. Thankfully, I did find Kim and the TESS Research Foundation which connected us to the other diagnosed families. These families are a huge support system for us.

Over the last 3 years Meredith has been in and out of the hospital many times from episodes of nonstop seizures. She started 6 different therapies to help with her weak muscles and global delays. She has been on 8 different medications, most of which don’t work. One even sent her into liver failure. She has had 3 surgeries, been through countless blood tests and multiple Drs. Through it all she still ALWAYS smiles. Every hospital stay, every Dr. visit, every blood draw, Meredith smiles, and now waves, at everyone she sees. Meredith is currently on 3 seizure medications and continues to have seizures regularly. As I write this, she had 3 today. They are much more controlled than they were and for that we are thankful.