2. The Shark

 



‘Lisa, did you get a chance to see Mr. Charles yet?’ PGY-0 Kate asked me one morning while I was still checking on a critical patient I was transferring to the ICU. It was so much paperwork I still hadn’t had the time to see most of my patients that day.

‘Not really, Kate, I’m packed today. Is he unstable?’ I asked not taking my eyes off the computer to show her I was not in a good moment to talk.

‘No, not at all. It’s just a weird case.’

‘Why is that?’ I asked sort of automatically.

‘Well, there’s just no diagnosis yet.’

‘Really?’ I smiled and looked at her. ‘I love those cases. As soon as I finish this we’ll grab some coffee and you can tell me about it. We can see him together afterward.’


A while later we were at the cafeteria and we met Peter. He looked just as tired as I was. But what was really shocking was that he was drinking coffee.

‘I see PGY-2 is going really well for you, Peter. Since when do you drink coffee?’

‘Since I have more patients than I can count.’ He laughed. ‘But just so you know, it still tastes like shit.’

‘It will get better.’ I patted his back. ‘Soon it will taste like heaven.’ He rolled his eyes.

We didn’t have a lot of time to chat that day, we were both packed. And I still had to catch up with the rest of my patients.

‘Kate, can you tell me the case as we go? Otherwise I’ll be late for rounds.’

‘Of course! Well, it’s a 60-year-old white man with infected pressure ulcers.’

‘Hum, that seems pretty straightforward.’ I thought out loud. ‘Good morning, Mrs. Jones!’ I greeted my first patient as I entered his room in the middle of Kate’s case. I didn't mean to cut her off, but I just really hated being late. Thankfully Mrs. Jones was a simple cholecystitis case in resolution.

‘So, go on Kate, what’s the catch on Mr. Charles?’ I said as we left Mrs. Jones' room.

‘Well, he has these pressure ulcers because he has been in a wheelchair for 6 years.’ I probably gave her a look so she would get to the point. ’And he doesn’t know why.’

I stopped in the middle of the hallway.

‘What do you mean he doesn’t know why?’

‘He’s very poor, and according to him, he started having difficulty walking 12 years ago, bumping on things, and not being able to steady his feet. After that, it got much worse until he couldn’t walk at all 6 years ago.’

‘And he never went to the doctor for that?’

‘He said he had no money to go to the doctor, and that he thought it might have something to do with his job as a farmer, standing all day long. He lived very far from the nearest hospital and couldn’t really afford to get there.’

I was silent for a moment.

‘How crazy is that?’ I asked. ‘And what are you thinking?’

‘What do you mean?’ She asked a little confused.

‘What do you think he has?’

‘I have no idea, that’s what I wanted your opinion on. He has no known comorbidities.’

‘That really is a weird case. Let’s see him next.’


We went to Mr. Charles' room. Although he was 60 he looked 70, probably from all the sun exposure he had on his life. His hair was white, his face was wrinkled and his body was extremely thin.

‘Good morning, Mr. Charles! My name is Lisa Diaz and I’ll be one of your doctors from now on.’

‘One of my doctors? Wow, that makes me feel really important.’ He opened a big smile.

‘Well, you are right! You are really important here.’ I smiled. After a little small talk, I asked him what happened with his legs.

‘You know, doctor. Too much standing, working hard with heavy weights, they just couldn’t take it anymore.’ He was dead serious, and when a patient had a really clear cause for his symptoms in his mind it’s so hard to find out what really happened.

‘Okay.’ I said. ‘But what was the first thing that happened that started making it hard to walk?’

‘My feet started getting all bent and weird, I couldn’t take a firm step. Then it sort of moved to my heel and calves. Very slowly you know? It was years and years until they finally caved and I couldn’t move below my knees.’

‘And does it feel different? Your legs?’

‘Yeah, they are pretty numb, although they hurt a lot at the same time.’ He laughed.

‘Does anyone else in your family ever had that?’

‘Not that I know of.’

I already had a pretty good idea of what he could have from what he told me, I just needed to take a look at it. And just as I expected he had lower motor neuron signs in his legs and deformed feet.


We left the room and I turned to Kate.

‘What do his feet remind you of?’

‘It kind of reminds me of diabetic feet, you know? That neuropathy.’

‘Exactly! Very well.’

‘But his blood sugar is better than mine.’ She seemed frustrated.

‘I know, but there are other causes of peripheral neuropathy.’ I looked at my watch. ‘Unfortunately, I don’t have time to play charades right now, so I am just going to say it. I think he has Charcot-Marie Tooth disease. Google it and we’ll discuss it later.’ I ran off to see my next patient.


A few days later we had already asked for a consult with Neurology and their main hypothesis was also CMT. Unfortunately, finding that out didn’t really change his prognosis, but at least he could understand why and maybe decide to join some trial.

One day after rounds Kate turned to me.

‘How did you know he had that? Mr. Charles. It is so rare.’

‘It’s actually not that rare!’ I laughed. ‘It is the most common inherited disorder of peripheral nerves. It just has a weird name, so no one remembers it.’ I could almost hear Jax calling me nerd while I said those words.

‘So how did you remember it?’

I looked at her for a moment.

‘Well, I just always liked how the name sounded.’ 

I gathered my stuff and was heading to the door.

‘Besides, Charcot kind of sounds like shark, and I just kept imagining a shark eating up my feet when I studied it.’ I laughed. ‘That sounded better in my mind. See you, intern.’’







Want to know more about Charcot-Marie Tooth Disease?

https://rarediseases.org/rare-diseases/charcot-marie-tooth-disease/#:~:text=Charcot%2DMarie%2DTooth%20(CMT,and%20later%20in%20the%20hands.


Want to read a real case of Charcot-Marie Tooth Disease?

https://journals.sagepub.com/doi/full/10.1177/2324709618758349








Clinical Board
 
AD: autosomal dominant; s/s: signs and symptoms; Tt: treatment.

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