16. The Alarm
This one is so crazy I don’t think you’ll believe it. But trust me, it happened. And Jared is not the only one.
So imagine this. Jared was a fine young man, 15 years old. Black hair, white face, and red cheeks. Jax was always talking about this patient because he was also a big sports fan. They would always chat about the latest games. He came to the peds clinic due to epilepsy since he was 8 years old. His condition was apparently well controlled with medications since he rarely had crises anymore.
One day I ran into Jax at the hospital and he told me Jared had been admitted.
‘Oh my God, really? What happened?’
‘I actually don’t know yet, I am on my way to find out.’ He smiled. ‘Want to tag along?’
‘Sure!’ I was excited about the change of air. ‘We should talk to him about the Mets, did you see the stats?’
‘I know, right? They are flying this season.’
When we got to Jared’s room he was sitting on the bed like he was ready to go home. I was waiting for Jax to do a big and loud greeting which didn’t happen. Then I realized that Jax was talking to him in sign language.
They talked for a while and Jax introduced me. After we left his room I punched Jax in his arm.
‘Why didn’t you tell me he was deaf?’
‘Ouch.’ Jax burst with laughter.
‘And since when do you know American sign language?’
‘I learned a little bit over the years cause I have that cousin that is deaf.’ He pulled a chocolate bar from his pocket and started eating. ‘And honestly, I didn’t remember that I hadn’t mentioned that. I actually have quite a few patients that are deaf.’
‘I am impressed… And do you know why Jared can’t hear?’
‘Apparently, it’s a genetic cause. There are other cases in his family of sensorineural hearing loss.’ He chewed loudly.
‘Interesting… And why is he here after all?’ I finally remembered what we went there to do.
‘Oh yeah!’ He said excitedly. ‘That is even more interesting.’ We both got our coffees and sat down at the Cafeteria.’ So, Jared still hears a little something, especially very loud sounds. He told me he was in his room studying in the evening when all of the sudden his alarm went off crazy loud and he passed out.’
‘What?’ I was confused.
‘You heard me! He was startled by the alarm and the next thing he knows his mom is shaking his shoulder as he is laying on the ground.’
I was having a hard time believing that story myself.
‘So you are saying that an almost-deaf young boy had a syncope because of a loud sound?’
‘That’s right, Dr. Diaz.’ He sipped his coffee. ‘Now any ideas on why before I have to present this case?’
‘Not even a single clue.’ I laughed and looked at my watch. ‘But I do have a few minutes for quick brainstorming. Do you want me to get Peter and Kate?’
‘Why not? The more the better.’
I paged Peter and Kate and they got to the cafeteria not long after that. We filled them in on the case and then we started.
‘Well, first things first. Are you sure the syncope wasn’t an epileptic seizure? I mean, he does have a history.’ Peter asked.
‘Well, I am not 100% sure, the mother did say it looked like his other episodes, but the description of the event didn’t sound like one.’
‘What do you mean?’ Peter replied.
‘He heard a noise, he collapsed, then he regained consciousness. No twitching, no tongue biting, no releasing of sphincters, no postictal.’
‘You’re right, it could be just syncope.’
‘What about his hearing loss?’ Kate asked, changing the course of the discussion. ‘You said it’s genetic?’ Jax nodded. ‘Any syndromes were named?’
‘None so far.’ Jax answered.
‘Do you think it could be related? The seizures and the hearing loss.’ Kate asked and Jax***
Then something came to my mind.
‘They are! That’s it, Kate.’ Everyone stared at me a little puzzled. ‘Well, not exactly. Not if they are actual seizures.’
‘Oh, so you are thinking he actually has a history of multiple syncopes instead of seizures, right?’ Peter understood where I was going.
‘That makes sense!’ Jax shouted a little louder than appropriate for the cafeteria. ‘Syncopes could have other causes, such as cardiac abnormalities. That plus hearing loss…’ He pointed to Kate.
‘I am guessing some sort of syndrome I should remember the name.’ She laughed.
‘Yes, but since you don’t remember, think of what could be wrong with his heart.’ Jax continued.
‘HOCM could cause syncope but it’s unrelated to hearing loss. Maybe some sort of arrhythmia?’ I snapped my fingers showing she was going in the right direction.
‘Jervell and Lange-Nielsen Syndrome, an autosomal recessive long QT syndrome. Mutated ion channels of the heart and the inner ear cause the symptoms.’ Jax finished his teaching session and glanced at his watch. ‘Thanks for the help guys, I’ll let you know how his EKG turned out.’
He was almost out of the cafeteria when he turned back to me.
‘Oh, and by the way, Jared said the Mets are not going to keep it together till the end of the season. He said they always choke.’
We were right. Turns out Jared was misdiagnosed with epilepsy which is actually common for people with Jervell and Lange-Nielsen Syndrome. And weirdly enough it’s also common that syncopes are triggered by startle. I told you, hard to believe.
Oh, and Jared was also right. The Mets started crumbling after July that year.
…
Want to know more about Jervell and Lange-Nielsen Syndrome?
https://rarediseases.org/rare-diseases/jervell-and-lange-nielsen-syndrome/
Want to read a real case of Jervell and Lange-Nielsen Syndrome?
https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-017-1243-1
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