This story was sent to us to be shared with the greater CurePDE community. The hope of families sharing their stories is to help other families.
My pregnancy was normal, and my delivery was smooth. After 24 hours, we were discharged from the hospital. We were at home for a week, loving life as a family of four, when Jaxson started doing this ear-piercing scream on day seven of life, which we thought was due to a sore stomach. This screaming continued a few times a day for the next three days. When Jaxson was ten days old, this episode lasted nearly an hour where he was irritable, sweaty, and inconsolable. That night, we took Jaxson to our children’s hospital, and shortly after arriving, he coded in the ER. He was intubated and sent upstairs to the neonatal intensive care unit (NICU). While in the NICU, he had a lumbar puncture, MRI, multiple EEGs, and was on a brain monitor for over a week. We were told everything came back normal and they thought this had to be related to him having a cold. After 2 days, Jaxson was extubated, and we had high hopes we would be on our way home.
While in the NICU, Jaxson was doing odd movements along with the ear-piercing screaming, which they called his ‘normal baby movements,’ but they treated it with midazolam. At this point, Jaxson was on Keppra, Phenobarbital, and he got one IV dose of pyridoxine. The next day, they stopped the pyridoxine as they didn’t think Jaxson was having seizures. The next four days, he was doing well and was taken off phenobarbital, and we were sent home on Keppra to follow up with neurology when genetic test results came back.
After a peaceful seven days at home, Jaxson started moving his head and eyes to the left for a couple of minutes. This happened consecutively for three days, so on the third day, we went back to BC Children’s Hospital. This is where we showed videos in the ER and explained that this particular movement Jaxson was doing we had never seen before, and we pushed to be admitted for an inpatient EEG. The next day, Jaxson had a screaming episode, which he had not had in nearly two weeks, and this was again treated with midazolam. An hour after the midazolam was given, Jaxson had a 20-minute EEG, and we were told it was ‘completely normal;’ these were not seizures, and it was time to go home.
By this point, Jaxson was inconsolable, and we refused to leave without proper help or an answer to what was wrong with our sweet little boy. That night, Jaxson had a major clonic seizure. He was then treated again with midazolam, and the next morning was put on a continuous EEG. When Jaxson woke up, he went into another seizure, but by this time, we had done so much research and thought it must be PDE. He was given pyridoxine and phenobarbital through an IV. Once Jaxson’s body was completely depleted of B6, that’s when he had a clonic seizure, and now we know all those face movements and the screaming were ‘small seizures.’ Jaxson has been seizure-free since that day, and all I can say is always trust your momma instincts when you know something is not right.
Jaxson is now coming up on 18 months and he is doing amazing. He is off all seizure medication and just takes pyridoxine daily, as well as we follow the low-protein diet, and he takes arginine daily too. Jaxson’s diagnosis was confirmed when we got his genetic testing results. We did weekly physiotherapy with him once we got his PDE diagnosis, and I believe that has played a major part in his development, as he is walking now independently since he was 16 months. We have had a long, scary journey to get to where we are today, but I am just so thankful we pushed and pushed until we got an answer because there is nothing scarier than watching your baby fight for their life, and as a mom, you just feel so helpless.
