This story features descriptions of child loss that may be triggering to some readers.
“Ed, Joey, and I arrived home from his second admission at the hospital.
We were there for 5 days I believe.
‘The EEG is clear,’ they say. ‘You can go home. The epilepsy panel has been run. We just have to wait for the results. You are free to go.’
We get home. We’re home an hour. No, wait. Like 45 minutes.
Red. Troll.
Oh, you don’t know what red troll is?
Well, red troll is a really terrifying seizure scream that no one seems to know anything about. It’s stiffening and a scream I wish I was never, ever subjected to. That I wish my sweet baby never felt for one damn second. The reason we went to the hospital to begin with.
But of course, it didn’t happen there, after they initially sedated my innocent baby in the emergency room.
See, they don’t care why your kid is seizing in the emergency room. They just need to make it stop. I get it. We can’t have babies seizing all over the place. But, the problem is, if you stop it, then it stops, and we sit there for days and everything looks good. Then, we go home, and seizures galore.
Ed and I start screaming at each other because what else is there to do at this point? It’s back in the damn car again.
So, now we’re going back to the hospital. I am in the red shirt and black pants we left the hospital in. My eyes are bulging, and I have lost it. I have officially now, after weeks and weeks of assessing, videoing, and rushing my child to the hospital, LOST IT.
I call ahead and demand to be admitted to the neurology floor so I can skip the ER and their ‘sedate the seizing babies’ protocol. I want the monitor on his head, and I want someone to tell me what is happening in my child’s brain. They say no. Reasonably so. You can’t just admit a seizing baby to a non-ICU floor. Fine. But I’m yelling.
We get to the Emergency Room. Ed comes in with me, but only because I am completely unhinged, and he’s scared security is going to make me leave. Joey falls asleep. Falling asleep is good because the seizing stops.
They want to get his vitals. I apologize profusely, but I refuse to let any person touch my sleeping baby or remove him from the car seat. We’re here, and we’re not leaving without answers. They oblige. Kindly might I add.
We get to the floor. The head monitor goes on. Wrapping gauze. Tape. Gauze. Tape. Here we are again with the frigging head wrap and the attached backpack. This time, he seizes immediately after placing the stupid hat on. Good. This is exactly what we want. How terrible is that?
We want an infant to seize. MY infant. That’s how messed up we are and how desperate we are for answers. They go to push meds. We have to stop the seizure. I say, ‘Please, do not push anything until you have confirmed with the doctors reading the strip that it’s a seizure.’ They call back, ‘Yes, seizure.’ Give it. Fine. Yes. Give it.
Joey goes to sleep. I love him. Why the hell the universe doesn’t seem to is beyond me.
I pass out on the sofa next to his crib. Do you know what it’s like to be tired because you have a baby? How about a baby that keeps having seizures? Tired. Very tired. Bones. Heart. Soul. Tired.
I’m sleeping. They come running in. Pushing meds. He looks perfectly still. I’m so confused from being asleep myself, that it takes me a while to understand that they saw seizures on his EEG Strip.
I go back to sleep. Who the hell goes back to sleep? The mom of a baby. A seizing baby. A mom with a broken heart.
We wake up. Who knows what time. Things happen of no significance. I get coffee; I wander about Joey’s room. I’m sure I kiss him 6,000 times and ask him why he’s so good looking. I hold him.
The backpack. I drop the backpack often giving him mild whiplash. Whoops, sorry, Joey. Like you need anything else to make you uncomfortable. God, I love you.
The doctor tells me she has expedited the panel of genes that will tell us what he has. She’s been able to pinpoint a few things and has a hint for what it might be. Narrowed down to ten things.
She shows me his EEG results on the computer. ‘Do you see this?’
‘Yes.’
‘This is many different seizures.’
Yes. He seizes, I think to myself. We know this.
‘They are coming from many different spots.’
Yes. Ok.
And then she says it. IT. ‘I’m worried.’
No.
I work here. I know what this means. This means things are not good. Not good.
She asks if my husband is coming in today so she can catch him up.
No. NO!!!!
They want to talk to both of us. Together. THIS IS NEVER GOOD. But I’m pretending not to notice this. Actually, I’m denying this in my heart. Because it’s too real, and it hurts too much, and I don’t want it.
She says, ‘I’ll be here all weekend. At some point, we will catch up.’
Ed comes in in the evening. We’re sitting on the couch, kind of laughing and just catching up. This is our stupid life now.
I see the doctor outside of our room with papers. You would think this would have clicked to me, but it did not. Denial, lack of sleep, who knows.
She comes in. I say nonchalantly, ‘Oh, you didn’t have to wait for us.’ I’m light-hearted. Confident.
She sits down with the papers.
‘We found which gene is responsible for your son’s seizures. You and your husband both carry a copy of a mutated gene. Joey received two copies which means it’s likely pathogenic.’
‘What?’
‘Disease-causing.’
Oh.
‘It’s the gene tbc1d24.’
Ok.
‘What does this mean? For Joey?’
‘Well, we don’t know.’
What?
‘Well, there are different variants, different spellings. Some aren’t as bad as others. We don’t know which variants are worse. We just have to see how the child does.’
Ok.
‘But here is a chart. Do you see the circles? The dark-colored circles reflect the age of seizure onset and how it correlates to development.’
Ok. Yes.
‘Joey is here. Early-onset. Dark circles.’
‘What does this mean?’
‘I don’t think he will live longer than a year. He will be very delayed. I’m so so sorry.’
I’m so so sorry. She’s soft-spoken and beautiful, actually, and completely full of tears to the brim but without the spilling.
I’m sorry, too. I’m sorry you gave me a death chart. I’m sorry I will spend this night hyperventilating into my husband’s chest.
I’m sorry to Joey. Because I love you. And because I did my best to care for you and make you be okay, and it didn’t work, and that makes me feel like a failure.
I’m sorry.
‘So how does this play out?’
‘You will go home and be okay for a bit, but the seizures will come back. The medicine will stop working. He’s following a very similar track as the first baby that had this here.’
‘When did she die?’
‘7 months.’
‘Are there any other cases here?’
‘No.’
‘Ok. Ok.’
Joey Nolan died at 7 months and 3 days old in the arms of his mother, next to his father. He was pure magic and love. ”
This story was written by JoeyLynn Nolan, co-founder of the tbc1d24 Foundation, along with the mother of the only remaining child treated at their hospital. Their hope is to prevent suffering for families afflicted with this mutation and fund research for cures. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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