17 Nov Klaire’s Superhero Story
Klaire is a SLC13A5 Superhero. Here are a few fun facts Klaire’s family shared with us!
- Name: Klaire
- Age: 2
- Home country: United States
- Her first name is actually Ella after her great-great grandmother. Klaire is her middle name!
- She is very good at picking up on sign language. She can tell us several things.
- She loves to swim and is a total water bug. Both pool and ocean!
- She loves attention from any and everyone and she will do whatever she can to get it, including fake coughing!
- She loves her big brother Trevor and tries to be involved in anything he’s doing.
Klaire’s Medical Journey
Approximately 14 hours or so after birth we knew there was a medical problem with Klaire. Klaire would have “blue spells” where she would stop breathing. They would last for about a minute; this was the first type of seizures we observed. These blue spells were happening pretty often in the hospital and Klaire was transferred from our delivery hospital to our children’s hospital. We weren’t 100% sure at first that her episodes were seizures until confirming on the EEG, which was done shortly after admission to the children’s hospital NICU. Klaire also had subclinical seizures that were only seen on the EEG.
Getting Klaire’s seizures under control was the biggest challenge early on. Her EEG showed multiple prolonged seizures. She was seizing approximately 20 minutes of every hour for days. She was on multiple medications and it was a lot of trial and error in the beginning.
September 2022 is when we received Klaire’s diagnosis. Klaire was almost a year and a half old. We knew from an early genetic panel that she had one pathogenic copy of the SLC13A5 gene and the other was “uncertain.” So we knew that SLC13A5 was never ruled out and always a possibility. We weren’t sure if it was because of other cases that looked similar to hers or that fact that she never gained muscle tone for her age that confirmed she was an SLC13A5 Superhero.
Our biggest challenge right now is mobility. Klaire is a little over two years old and is considered bed bound without our assistance. She cannot walk or crawl. She can scoot on her bottom when placed in a seated position by someone else. Another challenge we are facing as a family, is getting her the services she needs.
She is currently in physical, occupational, and speech therapy. Her speech therapist is starting feeding therapy with her as well. Klaire does not attend school yet, but she will be eligible for the handicapped preschool as early as age of three.