Sage was born at 38 weeks 6 days gestational via planned c-section. She came out with a full head of hair and was everything we could have hoped for! We were in the hospital less than 48 hours and then got to go home to introduce her to her sister, Clover.
By about 6 weeks old Sage had what most would call an “exaggerated startle reflex”, but in my gut I knew that something wasn’t right. I had forgotten to mention it to our pediatrician at her 2-month check up (I had tried to convince myself it was probably nothing), but about 2 week later the feeling that something was definitely wrong was really strong, so we took her back to the doctor. After looking up her symptoms I thought she had Infantile Spasms, but our doctor assured us he had never seen that diagnosis in his over 20 years as a family doctor. That did reassure us for a bit.
A month later the frequency of the spasms was increasing and seemed to be getting more intense, so we took her back in and got a referral to a neurologist. We were super lucky and got in to do an EEG the next Tuesday (we got the referral on the previous Friday). While we were there for the scan the neurologist had a cancelation that afternoon, so we were able to meet with him. At first, he told us her scan was normal and she was pretty much on track developmentally, but then she had spasms while he was in the room. He watched her as it happened then left to review her scan again. He said it still looked normal, but he wanted to do a longer one. We set up a 24-hour EEG for the next day. We hooked her up to the machine and they sent us home with a video camera and the portable EEG machine.
It was very long day and night. I had to move the camera and all the equipment whenever I moved her. We went back the next morning to get it all taken off. The tech told me that it usually takes about a week for the neurologist to have enough time to review a scan that long, but with our suspicion of IS he was going to try to do it in a day. He called us the next night (one week from when we got the referral) and told us the scan was still normal. I had been hoping that news would make me feel better, but it didn’t…. He gave me his personal number and said to let him know if anything else happened with her, or better yet if the spasms stopped.
A week and a half went by and the morning after she turned 4 months old, she was in bed with me and I felt her whole body stiffen up. I rushed out to our living room and called the neurologist. He didn’t answer but texted me right back. I told him I was pretty sure she had a seizure and he asked me to get a video if it happened again and send it to him. Every time she woke up from a nap, all day long, she had a seizure… I sent the videos to our neurologist and as soon as he saw them he had us go to the ER and he called ahead to tell them we were coming and what medication to give her. (Come to find out he was actually out of town visiting family, but he still responded). He told me she was having tonic seizures.
The following month was a blur of doctor visits, trying a few different medication options, but after she was still having multiple seizures a day, and one day they just felt different to me, we were back in the ER and ended up being admitted overnight for observation because she was started on phenobarbital (can cause decreased breathing and heart rate, so they needed to make sure she coped with it ok). Later that same week she had an MRI. The doctor thought it wasn’t going to show much of anything, but it did.
Sage’s MRI showed that she has Periventricular Nodular Heterotopias (PVNH). It is a developmental brain disorder that she was born with, and it has been causing her seizures. “During early brain development, when the baby is still in the womb, normal cells migrate from a location beside the ventricle to the surface of the brain. In PVNH, a small portion of these cells fail to migrate and stay as clumps around the ventricles.”
It was a very hard diagnosis to be faced with, but at least we now knew the cause of her seizures. It is a very rare disorder and affects every person differently. After adjusting meds a bit, we got the tonic seizures more controlled, but she was still having spasms like before. Since the spasms hadn’t stopped we did another EEG that did in fact confirm she had Infantile Spasms. With that additional diagnosis, she was started on steroids and after that didn’t stop the spasms we started Vigabatrin. We finally saw more improvement and the spasms stopped for a while, but was then replaced by atonic eye roll/head drop seizures. We were about to start her on the keto diet, but the long trip to meet with the specialist (across the state- 4 hours away) ended up putting her in the hospital for a few days after we got home we put a pause on that. We will aren’t sure why, because we haven’t changed much, but she has had fewer seizures since then than she has ever before!
The whole month of February 2022 she had a grand total of 3 seizures, totalling less than 1 minute all together 🥳🥳🤞🤞.
The next few months her seizure slowly increased again and evolved. We know one of the hallmarks of PVNH is med resistant seizures… but we are far from exhausting all our options at this point.
Sage is our warrior girl and even through these constant struggles she is still one of the happiest and calm natured babies I’ve seen. Her fight is our fight!
Catherine, Sage’s mom
