18. The Friend

 

'Are you ready?' I asked Jax as soon as he picked up the phone.

'Almost.' He answered and I sighed loudly so he could hear me over the phone. 'Actually, could you meet in the Peds ward? I want you to meet a friend.'

'This better not be you matchmaking for me.'

He laughed. 'Trust me, it's not.'

'Alright. Be there in 5.'

Jax and I had agreed to go to Applebee's after work to catch the NBA Finals game. I couldn't think of why Jax wanted me to meet a friend at that moment but well, we had a little time.

The elevator opened on the Peds floor and Jax was waiting for me in front of it. I had already taken off the scrubs and put on my go-out clothes. Jax was still in scrubs and white coat.

'Jackson! I hope you are not making us late.'

'Relax, we have time.' He waved it off. 'Come on.' 

I followed behind him as he led the way. After a 2-minute walk, he walked into a patient room. I frowned wondering what friend of Jax would be there.

'Freddie, this is Lisa!' 

I walked in and found a teenage boy in the hospital bed. He smiled broadly when he saw me and reached out his hand. 

'Hi, I'm Lisa.' I said smiling back and shaking his hand. 

'How nice to meet you.' He said politely. 'You a doc too?'

'Yes, I am.'

'But she only sees adults.' Jax said and rolled his eyes. 'I know, lame.'

Jax started rambling about how his day had been and asking Freddie about his. As Freddie was talking, I could guess he was probably around 17. He was a white kid with blond hair that fell in his eyes and freckles on his cheeks. He seemed like a regular healthy kid. Until he got up to get a baseball card that he wanted to show me in his backpack.

His gait was notably unsteady. He struggled to take a few steps and that's when I saw his feet looked weird, like deformed. He also struggled with his hands trying to open his backpack. Looking at his back, through the hospital's gown, I could see his scoliosis. 

He showed me his signed Derek Jeter baseball card and we all talked for a while more. Freddie’s mind was super sharp, he was smart and funny. Whatever he had, definitely did not affect his cognition. Jax told me he had met Freddie and his family when he moved with Meg into a townhouse in Downtown Brooklyn after the wedding. They were his next-door neighbors. 

We left the room after about 20 minutes of talking.

‘He’s a nice kid.’ I said to Jax as we walked towards the locker room.

‘I know right?’

‘Why is he here?’

‘Good question. Do you want me to tell you or do you want to figure it out?’

I smiled. ‘Sure, why not.’

Jax went on to tell me the basics of Freddie’s history. He was a healthy boy until 12 years old. That’s when the motor problems began with frequent tripping and falling. And they had been progressively getting worse since. In the week before his admission, he had started with episodes of vomiting and abdominal pain. At the ED, his blood glucose was 500 mg/dL.

‘Wow. Ketones?’ I asked surprised.

‘Yep.’ Jax answered.

‘So diabetic ketoacidosis.’

‘Exactly. They admitted him and started treatment. EKG was performed and showed signs of ventricular hypertrophy and inverted T waves.’

I nodded. ‘What else?’

‘Well, what else do you want to know?’

‘Family history?’

‘Clear. But the parents are third-degree cousins.’

‘Interesting. Whatever is happening with his motor function could be inherited. And that info makes me think of autosomal recessive. But I don’t know what to make of this diabetes and EKG findings. How is the neuro exam?’

‘He has muscle weakness, decreased vibratory and proprioceptive senses, loss of deep tendon reflexes, and some deformities like pes cavus and kyphoscoliosis.’

‘Ok. Any neuroimaging?’

‘Only from years ago, an MRI that showed cerebellar atrophy.’

‘Huh… Anything else about the heart?’

‘During his hospital stay, they detected some cardiac arrhythmias and his echocardiogram showed hypertrophic cardiomyopathy.’

‘Damn.’ I scratched my head. ‘It’s not a good prognosis is it?’ I asked conflicted.

Jax got serious. ‘No, it’s not.’

Both of us were silent for a moment and Jax went to change his clothes. I kept thinking of Freddie, of what his life must be like. Did he have friends? Did he know how long he had? At the same time, I stopped myself from spiraling down this pity track. How pretentious was I to think whatever disease Freddie had could define his life? I walked back to his room alone. 

‘Hey.’ I said with my head on the doorframe.

‘Oh, hey! You’re back.’ He smiled.

‘I hope you don’t mind me asking. How’s life for you?’

He shrugged. ‘Pretty ordinary.’ He left that in the air for a second and started laughing. So I started laughing with him.

‘No, really.’ He continued. ‘Of course, I have struggles that other people don’t. And if there was a way to cure this I would take it. But I learned a long time ago there’s no reason to be bitter about something I can’t control.’

I nodded silently.

‘I have friends, I have a girlfriend. My family is awesome. My mind is intact. I can still walk when most doctors told me I would be in a wheelchair by now. So I’m grateful for what I have today. Friedreich's Ataxia is a big part of my life, but it’s not all of it.’

I smiled at that. ‘You are a very smart guy. I can see why Jax is your friend.’

‘Yeah, I know.’ He shrugged again. ‘Can’t help it.’ 

‘See you, Freddie.’

‘See ya, Lisa.’

I started walking back. Friedreich’s Ataxia. It seemed so obvious now! Progressive cerebellar ataxia, diabetes mellitus, and cardiomyopathy. I googled it on my phone and started reading it. It was in fact autosomal recessive, a mutation in the mitochondrial protein frataxin gene on chromosome 9, that happens through a trinucleotide repeat: GAA.

‘Oh my God, you cheated!’ Jax pointed his index finger at me when he found me in the hallway.

I laughed. ‘I swear I didn’t ask him the diagnosis. But he did tell me.’

‘Lisa Diaz, you lie.’

‘It’s true!’ I punched him in the arm.

We took the subway on our way to Applebees and Jax noticed I was quiet.

‘What’s on your mind?’ He asked.

‘Freddie. You know, I felt sorry for him, for all that he has to go through. That’s why I went to talk to him.’

‘And?’ Jax pushed. 

‘And I don’t think I should.’

‘What?’

‘Feel sorry.’

…

Want to know more about Friedreich’s Ataxia?

https://rarediseases.org/rare-diseases/friedreichs-ataxia/

Want to see how’s life for a real person with Friedreich’s Ataxia?

https://www.youtube.com/watch?v=gqHEdzENplU

Clinical Board

 

Degen.: denegerative; DM: diabetes mellitus.