And no, she didn’t have a seizure.
But even still it was a good and successful trip. Which is weird considering she didn’t have a seizure…the whole point of our hospital admittance.
I’ll explain, but I think it’s good to give a quick background:
Jill is a twin, and was Baby B. While I ended up with an emergency c-section, it was Lucy (Baby A) stuck in the birth canal that was having trouble breathing and came out more gray than pink. Jill on the other hand, had apgar scores of 9/9.
But within 36 hours of birth, Jill was shivering. We (nurses included) assumed she was cold and kept layering warm blankets on her…but still shivering. She was transferred to the NICU at another hospital, and so began our whirlwind journey filled with more questions than answers.
It was clear she had severe developmental delays pretty immediately. While her twin sister rolled over and sat up and all the things babies do even in the earliest days, sweet Jill just laid there and shivered. And smiled. The best smiles.
And suddenly, without warning, she had her first seizure 2 weeks before her first birthday. We had no idea that was even a possibility. I had no experience with seizures beyond the flailing and twisting shown in movies. Her seizures were (and are) a quiet limp rag doll. Unresponsive. And long. Much much longer than anything anyone had ever experienced.
But we did and do our best. She’s never quite fit any molds. Not the standard “epilepsy” case. The tremulousness of her body and limbs not even standard of the Cerebral Palsy diagnosis she also bore. The label on her medical charts announcing brain injury due to birth trauma leaving this mama shaking her head in confusion. Sure, my birth story was dramatic, but not for Baby B way up high near my rib cage hanging out minding her own business. But what do I know? If they see brain injury, they see brain injury. Even if I have contended for five years that I don’t understand how that could have happened during labor and delivery. Perhaps it happened during the pregnancy? Doctors said it was unlikely. During the birth was when it probably happened. Okay…I didn’t go to med school. I can’t read MRIs. If you say so.
So down to UCLA we went and sat. And sat. And sat. Waiting for a seizure as we weaned her off life saving meds and sleep deprived her for 9 days. The hope was that we could capture a seizure while she was hooked up to a 24 hour video EEG so that doctors could learn more about where a seizure starts and how it spreads inside that blonde head of hers. After all, they had only seen one other epilepsy case with seizures that lasted hours each time. They needed data to even begin to figure out what the right course of action would be.
So Jill, Queen of Sheba, laid in bed and watch unlimited cartoons, as food was brought to her to eat in bed, every meal topped off with a dessert. Sometimes two. Every visitor bearing gifts of toys and always cupcakes.
I, the mama, laid on the uncomfortable sofa that was also my bed, and watched an exorbitant amount of Netflix (OMG House of Cards!!!). On the one hand, it was easier than the laundry and dishes and refereeing of squabbles back home. Except that it wasn’t Home.
As we sat and watched paint dry, her team of doctors reviewed her old files…the ones filled with information from her previous stay at UCLA. The same process and yet no seizure. Upon closer inspection of her 2.5 year old MRI did they see that the gray matter in her brain wasn’t brain injury at all…but instead brain malformation.
An injury is an injury. A broken arm you deal with and try to fix. But a malformation means something bigger. It means that’s just how you developed. The question now becomes WHY.
Jill’s brain shows heterotopia. The simple, layman’s explanation of that is that there are perfectly normal and fully developed brain cells…they’re just in the wrong damn place. In Jill’s case, there is a row/cluster of normal brain cells nearer the center of her brain…except that they actually belong along the outside of her brain. I learned that your brain grows outward as you develop in utero (kinda like blowing up a balloon…except totally not like that at all). So this small area that should have been pushed outward, wasn’t. Instead, it hung out in the center and more brain matter grew around it. MALFORMATION. Not injury. Oy vey.
The team is pretty confident that Jill doesn’t “just” have epilepsy. Or “just” have cerebral palsy. Instead, they believe that her seizures, developmental delays, and her tremors are part of a larger underlying condition. Like people with Down Syndrome often have heart problems…you don’t typically start off with the heart condition…it’s the Down Syndrome that in a sense caused the heart problems. The thought is that Jill has some kind of genetic or chromosomal condition…which includes a seizure disorder, global delays, and tremors.
They just don’t know which one.
The team saw that it was unlikely she was anywhere near having a seizure based on the information they were getting back from the EEG…but more importantly, they realized we were now headed on a completely different path. A host of genetic tests, chromosomal mircroarrays, and mitochondrial panels were ordered. They said that the few disorders/conditions they could think of weren’t quite right for her, so it would be up to the testing to come back. Jill’s entire condition could be a result of something passed down from either me or Andy (or both?), or it could have been a chance thing that just happened as she formed in my tummy. It could be in her genes, or even in her very DNA.
It could be that she’s the first ever.
But the fact that this is not a brain injury at all changes the entire way we look at things and how we approach her care.
Why does it matter? Is this a good thing? A bad thing?
It could be a nothing. It could change nothing in how we do things…we just continue trying to manage her seizures and give her the therapies she needs to adapt and succeed. It would just have a name.
It could be a good thing in that if others have walked this path before us, they could give us the case studies to know how to best help her. Rather than grasping at straws, we would have others to work from.
It could be something that affects her siblings and their future children. Something they will have to discuss with future spouses. That’s probably the hardest part to think about. So I won’t for now. For now I will ignore that elephant in the room and pretend I don’t see it. For now.
Our path will now likely include geneticists, testing, and more testing. In the meantime, we will continue to manage her seizures the best we can and continue with therapies. We will cross any bridges of change as we come to them.
So for that seizure we never captured? Of course they would still have loved to capture one. The more information, the better. Always. But the consensus was that we have bigger questions to answer. And if THOSE questions are answered….it could unlock many more answers for her and us. Including the best management of her seizures.
I’m cautiously excited. Excited for answers…but cautious because I know that sometimes answers aren’t always good ones. Sometimes answers are downright awful.
So that’s where we’re at. The genetic and DNA panels won’t be back from the lab for a couple of months. So for now we wait. And watch more paint dry.