5. The Bleeding
‘Hey, stranger.’ I heard a familiar voice behind me in the cafeteria.
‘Jax! Oh my God.’ I said when I turned around and saw his stupid face behind me. We hugged tightly.
‘How are you?’ I started.
‘I am good, Liz. I am happy.’ He smiled sincerely. ‘And you?’
‘I am happy to.’ I smiled back trying to sound convincing. ‘It’s gonna be a good year.’
‘For sure.’ He nodded. ‘I’ve missed you, nerd. Do you have time for a coffee?’
‘Of course.’
We sat at our usual table and suddenly everything felt like old times. Me and Jax, the dynamic duo.
‘So, I have a gift for you.’ He lifted one eyebrow. ‘The kind you like.’
I frowned, wondering. ‘What?’
‘A challenge.’ He sipped his coffee. ‘From a patient I saw this week.’
‘No way!’ I already sounded excited. ‘Shoot.’
‘William, a 4-year-old boy was admitted for fever and shortness of breath for 3 days. Go.’
‘Any other symptoms? Cough, pain, anything?’
'Purulent cough, yes.'
'Is that it, Jackson? No way you're giving me a simple pneumonia.'
He shrugged 'You tell me.'
Our rule said we couldn't go back to history after going for the physical exam and labs, so I had to dig more.
'Was he well before these 3 past days? 100%?'
'Well, overall yes, although he has an intermittent rash.'
'Since when?'
'It comes and goes, but it started a year ago. Some patches of rash and little purple dots throughout his body according to his mom. No itching or any related symptoms.'
I frowned. 'Has he had similar symptoms to his present symptoms before?'
'Yes. William has had 4 episodes of pneumonia that required hospitalization in the past 2 years.'
'What about other health conditions? Since he was born.'
Jax laughed. 'He has a previous history of 3 otitis media and 2 candida infections. And the mother also reports William has easy bruising and had a couple of previous admissions due to bleeding.'
'Prenatal history?’
'No problems at all.’
'Family history?'
'Just the usual hypertension on his father. Healthy older sister.'
'Ok.' I said. 'I am ready for his physical.'
'Ill-appearing kid, in moderate respiratory discomfort. Febrile. Crackles on auscultation of the left side of the chest. Hepatosplenomegaly on abdomen palpation. Petechiae over shins and an eczematous rash on elbows.’
'Interesting.' I said out loud and sipped my coffee. ‘Well, he definitely has some kind of immunodeficiency. The question now is which one. HIV?’
Jax kept his face blank, not giving me any clues. ‘Is that a guess?’ Right then Peter sat beside me.
‘Look who is here!’ He said with a big smile and hugged Jax. ‘And it’s good to see you too, Lisa.’ He bumped my shoulder. ‘It’s been some time.’
That was true. It had been some time. Since we started second year, Peter and I barely saw each other anymore. Our rotations were completely reversed.
‘You are right.’ I answered smiling. ‘And actually, I haven’t missed you at all.’ I teased him and he laughed.
‘Likewise.’ He winked. ‘So what is up?’
‘I challenged Lisa to crack a case.’ Jax said and Peter tilted his head not fully understanding what he meant.
‘It’s a thing we do.’ I explained. ‘A bet.’
‘I see.’ he said, raising his eyebrows. ‘And what are you betting?’
‘A box of donuts.’ Jax and I answered together and smirked.
‘Nice.’ Peter nodded. ‘So what have you got so far?’ He turned to me.
‘A 4-year-old boy admitted for what seems like an episode of bacterial pneumonia. He has had 4 similar episodes previously, besides frequent episodes of otitis media and candida infections. So I’m thinking immunodeficiency, but I still have to figure out which one.’
Peter scratched his chin. ‘Anything else?’
‘Apparently he has an intermittent eczematous rash that comes and goes, and also petechiae.’
‘I see. How’s the rest of the family?’
’Healthy. Healthy parents and healthy older sister.’
He nodded silently.
‘So I’m thinking HIV. But I am not spending one of my guesses yet.’ I looked at Jax.
‘Time for labs.’ I stated.
‘Ok. Of note: CBC showed a thrombocytopenia of 30.000 and a leukocyte count of 12000. Chest x-ray showed an opacification on the left hemithorax.’
‘Right. I’ll use my first guess. Is it HIV?’
‘Nop. Strike one, Dr. Diaz.’ Jax smiled. ‘Looks like I’m winning again.’
I started picking on my nails. Jax knew how I hated to lose.
‘Then SCID!’ I said out loud. ‘Severe combined immunodeficiency.’
‘Except.’ I quickly said before Jax could answer. ‘He probably wouldn’t have made it to this age without any treatment.’ I looked down at my coffee again feeling on a dead-end.
‘I think you’re close.’ Peter spoke up. ‘Come on, summarize what you have.’
I sighed. ‘4-year-old boy. Recurrent infections. Purpura and eczema. Thrombocytopenia.’
Peter raised his eyebrows trying to show me the answer was there. ‘And?’ He said.
‘And…’ I searched my mind. ‘Well, and bleeding.’ Then it hit me. ‘Is that rare disease!’ I said excitedly. ‘That happens in boys. That immunodeficiency with low platelets and eczema.’ I mentally went through my notes from med school. ‘Wiskott something.’ I rubbed my forehead hoping it would help me remember. ‘Wiskott-Albert?’ I tried.
‘Wiskott-Aldrich. But I’ll take it.’ Jax said laughing. ‘It’s a rare x-linked disease, a cytoskeleton mutation that disrupts antigen-presenting cells. That’s why his immune system sucks.’
‘Show-off.’ I muttered and he laughed.
We talked some more about things I don’t remember anymore and eventually each one of us parted to our own duties.
But sure enough, I got home and the box of donuts was waiting for me over the table. Along with Jax’s house key and a card.
‘I knew you would get this one.
Love, Jax.’
...
Want to know more about Wiskott-Aldrich Syndrome?
https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome/
Want to read a real case of Wiskott-Aldrich Syndrome?
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