Part 1 of 2 My son was four hours old when I first felt what one could only describe as “vibrating” coming from his body. I was high on hormones and have been known to freak out over little things. He had trouble keeping his temperature up, so I wrote it off as shivering due to being cold.
The pediatrician already gave him a clean bill of health. My husband didn’t seem to notice anything.
He was a perfect newborn. Barely cried, slept through the night even in the hospital. He was a little small, but we prepared for that. It was a high-risk pregnancy due to me having lupus and being at risk due to anti-cardiolipin proteins being present, making blood clots and miscarriages a severe concern.
At about two weeks old, I watched him in his sleep, fawning over his perfect face and little toes, when I noticed his limbs were jerking. It was rhythmic, arm, arm, leg, leg. Small and slow, but over and over.
I was on maternity leave from working as a medical assistant in pediatric neurology with an epilepsy specialist. My nephew also has refractory epilepsy, and I have seizures during lupus flares. So I knew what this was. However, I also knew it could be sleep jerks from dreaming, though I was pretty sure he was too young for that.
I monitored him, waiting to see if it would happen again. It did. Again, and again, and again. I tried my best to record a video of the event, which was hard, holding a jerking baby and trying to stabilize a phone enough to get a clear recording. Eventually, I captured an event.
When I returned to work, I explained what was going on to the neurologist I worked with, I told him I knew it wasn’t infantile spasms, but it looked like some form of seizure. I showed him the video, and he reassured me they were nothing more than benign neonate myoclonic jerks. My son was still trying to work stuff out of his system from the transition from womb to world.
I looked up to this man as my mentor and still do, but something didn’t sit right with me. These jerks were supposed to stop at two weeks, six weeks tops. He’s now six months old, and still, these episodes were happening.
My son wasn’t hitting milestones. He couldn’t sit up and could barely lift his head. He was floppy.
“Some kids just take longer; he’s just taking his time.” The pediatrician told me this. Still, she sent out a referral to our local Early Intervention Services to shut me up. The neurologist scheduled him for an EEG.
For those who don’t know, an EEG is only good if you have a seizure at that moment. They usually only last 30 minutes. Not a lot of time to provoke and capture a seizure. My son’s EEG was normal.
Then covid hit. My workplace became toxic, not because of the doctor I worked with, he was still excellent, but the manager. The manager told me to go back on anti-depressants (despite not being depressed). I was informed I wasn’t allowed any accommodations for my lupus or Narcolepsy. She took away neurology and placed me in a different specialty that I specifically told her I didn’t understand. She didn’t like how the neurologist and I worked. We didn’t follow the hospital’s rules; no, we cared more about patient care than profit and ensured our patients got the best care.
After being told I was uncompliant, I had had enough and quit without notice. The neurologist called and begged me to stay, but I couldn’t. Still, my kids were patients in that office, and I still had to go there.
It wasn’t until his first birthday that we could obtain intervention services. At this point, he was still having seizures. I had to just keep telling myself they were nothing. He wasn’t sitting without assistance, could barely babble, and had consistent GI issues. Finally, EIS diagnosed him with hypotonia, developmental delay, speech delay, motor delay and set up an appointment with the developmental pediatrician, who diagnosed him with Autism.
He then saw GI, who sent for a swallow study which showed low masseter muscles. He also had problems eating and wasn’t gaining weight, resulting in a prescription for an appetite inducer.
We switched pediatricians (but still in the same organization), and I convinced this doctor to order labs, which resulted in severe neutropenia. Off to the hematologist we go.
When we saw the hematologist, another doctor I’ve worked with, he kept going back and forth from “Wow, I’ve only seen a number this low in my chemo patients.” to “Eh, I’m not worried since he is barely sick.” Again, this is covid; he doesn’t leave the house. We left with the diagnosis of autoimmune neutropenia.
One night while eating, he randomly started screaming, completely inconsolable. He started vomiting uncontrollably. I jumped in the shower with him, fully clothed. When the water hit him, he just stopped. He s