26. The Chico
‘Hola, doctora Lisa!’
I moved the phone away from my ear to confirm the caller. Jax.
‘Is that all the Spanish you got?’ I teased him.
‘Ha-Ha.’ He answered on the other side. ‘I kinda need you.’
‘For Spanish? I thought your intern spoke Spanish.’
‘She does, but she is sick today. I could call an interpreter, but I also want your input on the case so, you know… Dos birds, Uno stone.’
‘Oh God, stop, it's too embarrassing.’ I started laughing. ‘I’m coming.’
I went to the Peds floor to find Jax playing tic-tac-toe with a kid in the playing area. I am not that good at guessing ages, but I’d say Juan looked about 8 years old with light brown skin and hair. I watched closely as Jax beat the kid in two moves and looked up to see me.
‘Hey, Liz!’ He said getting up from the floor. ‘This is my pal, Juan.’
‘Hola, Juan!’ I offered him a fist bump and luckily he accepted it. ‘Yo soy Lisa.’
‘Yo soy Juan Martinez.’ He said and turned his eyes back to the game, interested in continuing what he was doing before I came in.
Jax showed Juan he had already won the game and Juan sighed upset.
‘No quiero más.’ (I don't want anymore.) He got up and started walking to the other side of the room.
‘C’mon Jax why don’t you let the kid win one?’
‘Shhh, Liz.’ He shushed me. ‘Watch.’ He pointed to a clumsy Juan walking across the room.
I took in that image. ‘Ataxia?’
Jax nodded.
Juan got back and they played some more. After a few rounds, Juan’s mother came to the room to join us.
‘Gracias, Dr. Miller.’ She said.
‘Maria! This is Dr. Lisa Diaz.’ Jax pointed to me.
‘Hola! Como estás? Voy a ayudar a traducir para usted.’ (Hi! How are you? I am going to help translate for you) I reached out my hand and she smiled back.
‘Que bueno! Muy amable.’ (How nice! Very kind of you).
After some cordial talking, she asked me where I had learned Spanish. My family’s roots are in Puerto Rico, and growing up, my abuela only spoke Spanish with me. She knew English but she didn’t want her grandkids to lose our family’s language, so whenever I said something to her in English, she would answer: ‘¿Qué? No entiendo.’ (What? I don't understand.) until I spoke Spanish.
Anyway, I talked to Maria and she told me her story. She was a single mom from Colombia. She worked any job in her country to provide for her most precious gift: Juan. Sadly, as soon as Juan turned one year old, her nightmare began. Every other month she had to take him to the hospital for something - countless cases of pneumonia, sinusitis, and endless antibiotics prescriptions. She was exhausted and broke and Juan wasn’t getting any better. Finally, when Juan turned five, something different worried Maria. He had always been a little clumsy, but now his walking was visibly weird and he was dropping objects more frequently. With few resources in Colombia, she decided to come to America for help. A couple of years passed until she gathered all the money and documents she needed to finally arrive in NYC.
I translated all her answers to Jax and asked her the questions he wanted to know. Something wasn’t adding up.
‘Jax, why was he admitted to the hospital?’
‘We’ll get to that.’ He answered. ‘Just ask her one more thing, please. Is there anything else unusual about her son?’
‘Sus ojos.’ She answered me. ‘His eyes.’ I told Jax.
‘Chico, ven aquÃ!’ (Boy, come here!) Maria called out her son and he came from the other side of the room.
‘¿Ves? Son rojos.’ (Can you see? They are red)
‘She’s saying his eyes are red.’ I continued translating. ‘Some days are more evident than others. But she frequently sees too many red vessels in his eyes.’ Maria pointed to the son’s face. ‘And now it is appearing on his skin too.’
Jax and I got closer so we could see. Little telangiectasias spread around his skin and eyes. After we were done talking I thanked Maria and told her she would hear from us again later. As soon as we left the playing area I turned to Jax.
‘What are you not telling me? Why was Juan admitted?’
Jax handed me the paper in his hand. ‘What do you see?’
I started skimming through the CBC he had handed me. ‘Leukemia?’ I asked saddened by what I had seen.
Jax nodded in response. ‘They ran tests on him in the ER and this came up, so Juan was admitted.’
‘Wow. That’s tough.’
‘Tell me about it.’
‘But that can’t be all, right… Something else was going on way before this cancer came up.’
‘Exactly. I agree.’
‘What else on his blood work?’
‘Nothing on the ER workup. I ordered some more but they aren’t ready yet.‘
‘Ok. So what are you thinking?’
‘Well.’ Jax scratched his head. ‘Juan is a 9-year-old with a history of recurrent infections, poor growth, gait ataxia, and coordination problems, who now appears with leukemia.’
‘So if we start with the infections…’ I started.
‘We have to think of some immunodeficiency.’ Jax completed.
‘Yep.’ I sighed. ‘And maybe one that increases the risk of leukemia. But still, there are so many of them, it’s not that specific.’
‘You’re right!’ Jax snapped his fingers. ‘On its own, it’s not specific. But which immunodeficiency can cause ataxia?’
‘Huh…’ I tried to find an answer in my mind.
‘And telangiectasias?!’ Jax interrupted me with excitement.
‘Ataxia-telangiectasia?’ I said not believing how obvious it seemed now.
‘That’s it. Defect in ATM gene causing a problem with DNA repair. He has infections, ataxia, and telangiectasias. And a very high risk of malignancy, which sadly for Juan has already come.’
‘That’s crazy, Jax.’ I gave him the paper back. ‘I hope little Juan can fight it all. Let me know when you go talk to them. I wanna be there.’
Jax called me the next day and I helped break the news to Maria and Juan. I have to say, I almost regretted asking to be there, I never get used to how heartbreaking it is to give this kind of news in medicine. But then again, I don’t think we are supposed to get used to it. We are just supposed to be there for them.
‘Dios lo sabe todo, chico.’ (God knows it all, boy.) Maria caressed Juan. ‘Dios no te pone ninguna carga que no puedas llevar.’
I smiled at that. Maria said it just like my abuela used to. God doesn’t give you a burden you can’t carry.
…
Want to know more about Ataxia-Telangiectasia?
https://rarediseases.org/rare-diseases/ataxia-telangiectasia/
Want to see real stories of patients with Ataxia-Telangiectasia?
https://www.youtube.com/watch?v=a_h8aOg0F5E
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