01 Nov Millie’s Superhero Story
Millie is a SLC13A5 Superhero. Here are a few fun facts Millie’s parents shared with us!
- Name: Millie
- Age: 1
- Homestate: Georgia
- Millie loves food and can hear a wrapper from the other room
- She loves Word Party and Mickey Mouse
- Millie loves music
- Her favorite song is Wheels on the bus or any kind of beat boxing
- She loves swimming and bathtime
Millie’s Medical Journey
One night Riley (he was 3 at the time) and I were laying in bed reading a bedtime story. He stopped me reading and said, “you have a baby sister in your tummy.” I brushed it off and said, “not now but maybe one day,” since he had been asking for a baby sister. We had such a hard time trying to get pregnant with him, I wasn’t sure it would ever happen again. A few weeks later after starting back to college, buying a project car and moving to a new job we found out he was right.
We had a very healthy and normal pregnancy, other than the COVID-19 shut down 3 weeks before my due date. On April 8th at 8:35 am we had a beautiful screaming baby girl with a ton of red hair! We were so happy and exhausted but seemed to have a normal first day. I had some medical complications during the C-section but Millie was eating and sleeping perfectly. The first night was a little rough and she kept flailing. They told us over and over it was a hyper or exaggerated startle reflex and she would grow out of it. The next day I was finally allowed to get out of bed and walk so they took Millie to get her hearing screening and bath while I tried to get up and move around. We were laying out clothes so that we could take some good photos and the doctor came in without her. My whole world froze and shattered. He told us that she was having seizures and they were not equipped to properly care for her. They let us go back to the neonatal room and see her while we waited for transport to the NICU in the next town. We were in shock but it hit like a ton of bricks when we went back to her covered in wires and tubes not able to hold her all the way. They told us we would be able to go visit but we had to follow behind and then give them time to get her setup. My heart was broken knowing that we would have to be apart and she wouldn’t have either of us if something happened in the middle of a pandemic!
Over the next few days they got her seizures slowed down and tested her for everything they could think of. We had central lines, blood taken, urine samples, spinal taps, CAT scans, EEG, EKG, MRI, you name it. After all of this we still did not know why she was going through this.
We left the hospital 2 weeks later with a newborn, medicine, a very rigid feeding schedule and a list of things that were ruled out as causes but no answers.
A few days later it seems like she was having more “twitches” and focal seizures. They would build and get closer together each time. She had a bad one, quit breathing and turned blue. The first responders lined our street to help within minutes as I tried to revive my sweet lifeless little girl. She was admitted back to the hospital and was there for three days. They added another medicine that stopped the seizures but it wasn’t enough. The next night we were back at the ER with more seizures to the point of having to revive her. Still no answers. The neurologist upped the dosage and we finally gained control. When we had a follow up with him he suggested genetic testing since he suspected it was a common genetic factor. The testing was not what the doctor had suspected. It was something much more rare that after more testing we realized that Drew and I are carriers for. We started searching online and found 2 medical papers on it and were very worried since it didn’t look very hopeful. Shortly after we found such a wonderful support family when we found the TESS support group on Facebook.
We opted for early intervention and have done OT and PT from the start. We are now just in Speech. And she is doing great! Millie always pushes so hard in therapy and is determined to do what she sets her mind on, even if her body limits her.