On December 21, 2022 Tahli made her arrival via vacuum assist vaginal birth. It was a tough delivery and she needed oxygen as soon as she came out, as she was struggling to breathe and her chest was caving in from trying so hard. A few seconds later I heard her whimper and felt relief that my baby was alive. She weighed 8 pounds and 4oz. She then spent the night in the nursery being monitored.

 

The very next morning she was transported to the NICU an hour away at a different hospital. Two days later I was finally able to see her, she was still on CPAP and was getting antibiotics for a respiratory infection. They also told me she had shown weird movements and so they decided to perform an EEG. The next day they said her EEG was abnormal, but no seizure-like activity was noted.

 

She got to come home on Christmas Day, and it was the best feeling ever because the doctors had told me they didn’t think she was going to survive. She was drinking from a bottle and everything was going great. She didn’t have the best latch trying to breast feed, so I pumped for her instead.

 

At around two months we had our first round of vaccines and then I noticed that her eyes would roll upwards and her body would crunch up. Luckily I took a video and went straight to the ER and they performed a 24 hour EEG and noted everything was fine and sent us back home.

 

And she was fine, I never noticed it again until four months old. This when she was doing more eye-rolling and twitching, so I took her back to the ER and they said she tested positive for COVID and had us admitted for a 72 hour EEG. Nothing was noted. They said it was probably from sickness, and sent us home again.

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A few weeks went by and she was fine. At around five to six months I noticed the twitches more and more, and I kept emailing and calling the neurologist begging for help, sending them videos. I was also telling them she was delayed; by this time we had already started physical therapy because the paediatrician had noticed Torticollis, and the therapist had noted her “low tone”.

 

Six month vaccines came around and the next day we were scheduled for an admission for another EEG. Thankfully they caught her first tonic-clonic seizure on the EEG, as well as her twitches, which we now know are myoclonic jerks. "Generalized Epilepsy" they called it. My heart sank and all the frustration wanted to leave my body in screams because I knew my child was having seizures for months and no one had listened or helped.

 

We started Keppra as her first anti-epilepsy medication, and to this day we have trialled 10 medications that didn’t work. At 8 months old, Tahli was having hundreds of myoclonic jerks a day and her development never got better. We started the keto diet at 12 months old and her development got better, as this gave her clarity of mind, but it never helped the seizures.

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We then started a new drug called Diacomit (used to treat kids with Dravet Syndrome) and it was a miracle for her. Her seizures dropped from hundreds to 20-40 a day, then after two months we increased the dose and two weeks later we were down to about 5-10 seizures on a bad day. And sometimes, she would only have 1-2 on a good day.

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We then got the call from Birmingham Children's Hospital. The whole genome test we pushed so hard for, after we were told it "wasn’t medically necessary and was pointless because we wouldn’t find answers”, showed pathogenic variants for CRELD1. And again our hearts sank. Today, Tahli is a thriving toddler who’s seizures seem to be controlled at the moment. She is also on a low dose of Topomax, Onfi, Ethosuximide, ketogenic diet and Diacomit.

 

She is gaining inchstones and strength everyday. We are travelling around the United States to different therapy centers, which offer DMI (Dynamic Movement Intervention) and are providing her with all the opportunities to continue to hit these milestones.