30. The Pencil
I jumped at the sound of my phone ringing loudly. My eyes opened and I found myself in my bedroom. I glanced at the clock on my bedside. 3:20 am. Who would be calling me at this time? I wasn’t on call that night.
I reached for the phone on my nightstand and checked the caller ID. Jax. My heart started racing.
'Jax! What happened?'
'Hey, Liz!' He answers with a calm and happy voice. 'How are you doing?'
I pull the phone away from my ear to check the time once again on the screen. 'What the hell?'
'Ohh gee. From the sound of your voice, I'm guessing you're not working tonight.' He said half apologetically half laughing.
'Dear God, Jackson.' I dropped my head back. 'You scared me to death. I thought something bad had happened. I was sound asleep in my own bed.'
He now laughed loudly at the other end of the line. 'Well, my bad.'
'You're the worst. What do you want?'
'I wanted to discuss a case with you. But I can run it by you tomorrow.'
'No way, now that I'm up you better tell me.' I yawned. 'At least I can sleep on it.'
'Alrighty. A previously healthy male teenager, Miles McKenzie, was admitted to the hospital around four hours ago. He’s seventeen. He came to the ER after a sudden episode of syncope at home. No triggers were involved, and he told me he had only one previous episode of syncope a couple of months ago while playing football.’
'Huh. Not good.'
'Yeah. In the ER he was completely alert, oriented and asymptomatic. An EKG showed first-degree AV block and left bundle branch block.'
I scratched my head. 'Weird. Go on.'
'They put him on a cardiac monitor and admitted him. Some basic exams were ordered and he was doing fine. Until 30 minutes ago, when he had a new episode of syncope with documented arrhythmia..
'Bummer. So his heart is definitely at fault.'
'Yes. So I went to talk with him again to gather more information. He has no previous medical condition and his review of systems came clean except for diminished visual acuity and poorly defined generalized weakness.'
'What do you mean by that?'
'He says he feels weaker than his colleagues and he struggles to lift weights in the gym. He's a thin boy, you know. But that’s it.’
'Right. Any family history of heart disease?'
'Not that he knows of. His mother is healthy but he did lose his father when he was a kid. Mr. McKenzie passed away after an elective surgery when he was 38.'
'Man, that's tough. So young.'
'Yeah, tell me about it.'
'Ok, anything else?'
'Not really.'
'Well, it seems like a heart conduction problem, right? What are the usual causes for this in kids? Infectious diseases like Lyme? Something congenital?'
'It could be… But I have the feeling there’s more.'
'I see.'
'Anyway, he will be my patient from now on. Would you meet him tomorrow? He's almost an adult anyway.' Jax chuckled.
'Sure.' I yawned again. 'Now let me sleep on it. See you tomorrow.'
'See ya.' He hung up and I slept again almost immediately.
In the morning, I had breakfast earlier than usual and left home without Kate so I could stop by the Peds floor before getting to the clinic.
I smiled at the colorful paintings that covered the peds floor walls. I found Jax in the computer room typing notes.
'Morning, jerk.' I said behind him and he turned his chair smiling.
'Morning, sunshine.' He said when he met my gaze.
'You're still not forgiven for waking me up…'
'I figured you'd say that. That's why I got you this.' He picked up two cups of coffee and a bag of donuts from behind the computer.
I bit my lip to hide my smile. 'Fine, you're forgiven.' I reached out my hand and accepted his peace offering.
We went through Miles' labs but there was nothing abnormal in the usual arrhythmia workup except for the EKG. He was still waiting for an Echo. After discussing some random thoughts we decided it was too early for us to wake Miles up. Poor guy, he had to be tired. So I just walked with Jax towards his room on the off chance that he was awake. If he wasn't, I would just come back later.
As we had imagined, Miles was sound asleep. To be honest, he was loudly snoring.
'Ok, I think there's a small chance he's sleeping.' I whispered and Jax giggled.
I took a look at Miles. Jax was right, he was a slender kid, not very muscular. But there was also something different in his face.
'Why are you frowning?' Jax asked me.
I motioned so we would walk away from the room. 'There's something different about his face, don't you think?'
'I do!' Jax agreed. 'But I can't really put my finger on it.'
'Yeah, me either.' I shrugged. 'Anyway, we'll talk later. Let me know if you have any updates.'
The whole day went by so fast and busy that Jax and I didn't even talk again. The next day though, I suddenly remembered Miles while eating lunch. So I called Jax.
'You know what I'm thinking?' I asked when he picked up.
'No, but please enlighten me.' He said back.
'Miles' face. I think it could be a muscular weakness. Like, facial muscle weakness. Plus he had a complaint of weakness, right?’
'Right.' Jax thought for a moment. 'And that snore. It could be muscle weakness too.'
'True.'
'So maybe we should look at everything again. It could all be related.' He added. 'Meet me in his room.' He said and hang up.
I found Jax waiting for me at Miles' door. He signed for me to join him and opened the door.
'Hi, Miles! I'm back with a friend. This is Dr. Diaz.'
Miles was doing his homework when we barged in but he smiled back at Jax as soon as he saw him.
'Hi, Dr. Miller! Nice meeting you, Dr. Diaz.’
'Hey, Miles.' I smiled and held out my hand. 'It's very nice meeting you too.'
It took Miles a while to let go of his pencil and meet my handshake. I felt a little odd during those extra seconds with my hand in the air, but so relieved when he finally gripped my hand back, although it also felt like the handshake went on for a little too long. I kept smiling though and didn't think much about it at that moment.
We didn't discover many new things during the conversation with Miles. However, Mrs. McKenzie had some interesting new info. She agreed that Miles had noticeable muscular weakness. She said she had taken him to a couple of doctors since he was a kid, but no one really found a problem with him and told her she should move on from it. Finally, she added something quite intriguing. Mr. McKenzie, Miles' dad, didn't die during the surgery like Jax and I had imagined.
'He just never woke up after the surgery. They said he had respiratory failure.'
We thanked both of them for the information and left the room.
'Ok, so what do we have?' I started.
'Arrhythmia and muscular weakness. And it seems like his father could have had some sort of muscular weakness too. So I am guessing genetic.'
'Agreed.' I nodded. 'Hey, did you notice he took a while to let go of the pencil and shake my hand?'
'Yeah, that felt a little off.' Jax said and suddenly hit me in the arm. 'Oh my God, Liz! That could be it!'
'What?'
'Remember myotonic dystrophy? The CTG amplification. It's a type of muscular dystrophy, and patients can have a hard time relaxing the muscle after it's contracted. To let go of the pencil for example, or to let go of a handshake. Besides, it can also affect the heart.’
'Sounds pretty solid to me. And this disease has genetic anticipation, right? His father had it but he has it worse and earlier.'
'Exactly.’
Miles was tested and Myotonic Dystrophy was quickly confirmed. Jax also requested a consult from ophthalmology because of Miles’ visual acuity and it turned out he had cataracts, which can also happen in this condition. He had to place an ICD for his recurrent arrhythmias and was discharged not long after that.
I stopped by Miles’ room the day he was supposed to go home. I remember thinking he seemed happier than I expected. Of course, he worried about some aspects of his condition. But overall he seemed relieved. Relieved that he knew. I wished him well and turned to leave thinking about how much I learned from some patients. I was so lost in my thoughts I didn’t see this tall guy in navy blue scrubs running in the hallway.
‘God, watch it.’ I said harsher than I should have when he crashed into me.
‘I’m so sorry.’ He started and stopped when he looked me in the eye.
Before I could say anything back a small kid came running and passed us.
‘I told you I am faster!’ He screamed excitedly to the broad-shouldered man in front of me. He laughed but didn’t turn his eyes away from my gaze. His white skin contrasted with his dark military buzz cut.
‘I’m David.’ He smiled. ‘Physiotherapist.’
‘I’m Lisa.’ I smiled back. ‘Uhh, resident.’ I followed his lead.
‘See you around, Lisa, uhh, resident.’
I nodded and went on my way oblivious to the fact that the reckless man I had just met would one day become my husband.
…
Want to know more about Myotonic Dystrophy?
https://www.mda.org/disease/myotonic-dystrophy/signs-and-symptoms/adult-onset-DM
Want to hear from real patients about what’s like to live with Myotonic Dystrophy?
https://www.youtube.com/watch?v=jePwol1A61c
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