33. The Angel
‘Please, Lisa! C’mon, it will be fun.’
I laughed. Jax wanted my help with his case. A 5-year-old girl with neurodevelopmental delay. We were having breakfast together that day.
‘Today is my day off, Jax. I’m not going to the hospital.’
‘Why not? You love it!’ He teased while making some pancakes.
‘Oh, so now that it suits you there’s no workaholic speech? Very convenient.’
He smirked.
‘C’mon, I just want you to take a look at the kid. You were always better than me with facies and I think she might have a syndromic one. I need 10 minutes tops, and I’ll pay your uber back home.’
I thought about it for a moment.
‘Why don’t you ask your attending to see her?’ I asked already knowing the answer.
‘Well, he is not my number one fan for starters.’ Dr. Holmes was still tough on him. ‘So I would prefer to talk to him when I have a stronger hypothesis.’ I smiled. ‘But you know this already, Diaz. You’re impossible.’
‘What? It was an innocent question.’ I couldn’t hold my laughter.
‘No, it was a mean question. And now you owe me a 10-minute medical opinion at Brooklyn Hospital. Let’s go.’ He threw me my coat and I couldn’t resist it anyway.
On the subway, he started telling me about the patient. Her name was Lana Martin, a sweet kid. She was an only child and her mother, Mrs. Martin, took great care of her. She had a sad history of multiple miscarriages, and on Lana’s birth she bled so much she needed a hysterectomy. Lana was a living miracle.
‘Wow, that’s rough.’ My mother had a miscarriage before me, and even though she had made peace with it eventually, she always says it was one of the worst experiences of her life.
‘I know! I feel so bad for her.’ Jax seemed upset.
Then he told me that Lana was born with strabismus, but besides that, it was a normal girl at birth. In the following years, however, she started having trouble doing normal things, like walking, eating, talking. She was admitted yesterday due to a seizure caused by a high fever.
‘The fever and the seizure are not bothering me.’ Said Jax. ‘It looks like exanthema subitum. What I worry about is this history that doesn’t have a diagnosis yet. The mother said Lana’s doctor thinks it might be autism but he’s not sure.’
‘Does she look autistic to you?’
‘Not really. In fact, she seems to have good contact with her mother. They have a great relationship.’
‘Okay. Let’s take a look at her.’ We got off the subway.
When we got into her room Lana was laughing with her mother. God wasn’t she the cutest. Jax introduced me and I talked a little bit with Mrs. Martin.
‘Dr. Jackson told me that Lana had trouble with some activities like walking and talking. Is that correct?’
‘Yes, doctor. Lana is a beautiful child, she's my little angel.’ She said while caressing her hair. ‘But I worry that she can’t keep up with the other kids her age.’
We talked a little bit about everything, and I honestly felt like I was helping her get her mind off things. She was helping me too, actually. While we talked, my mind spaced and it was like I had all the time in the world. I even forgot it was my day off.
She seemed like an incredibly good mother. I felt for her when I remembered her miscarriages. I could easily see her house full of loud and messy kids, but she only had one. She didn’t seem upset though, it was clear how much she loved her child. Lana was her whole world, and I could see why. She was such a happy kid she filled the room with her laughter.
After talking to Mrs. Martin, I started playing with the child. I usually wasn’t great at it but with Lana it wasn’t that difficult after all.
Jax was right, she seemed to have a syndromic facies. Her teeth were widely spaced, she had strabismus and upslanting palpebral fissures. And that was only what I could perceive, I was no expert. Even so, by looking at her, I didn’t know what she could have. But by playing with her, I could.
When we left the room Jax noticed the smile on my face.
‘What, Lisa?’
‘You didn’t notice?’ I asked.
‘Noticed what? Just tell me.’ He was curious.
‘If I tell you it is no fun.’ I smiled. ‘What did you think of Lana?’
He described the alterations I had seen on her face.
‘Okay. But what did you think of her? I mean, her personality.’
‘Well, she is the cutest. Her laughter is so amazing.’
I looked at him like he was getting close.
‘Oh my God, she can’t stop laughing!’ He said with a smile.
‘That’s right, Jax.’
‘I guess her mother was right after all.’ I didn’t understand what he meant. ‘She is a little angel.’
‘Damn, how fitting.’ I smiled. Lana probably had Angelman Syndrome, a genetic disease especially known for causing developmental delay and inappropriate laughter, a classic case of maternal imprinting.
I held out my hand to Jax.
‘Now pay me my uber ride.’
…
Want to know more about Angelman Syndrome?
Want to read a real case of Angelman Syndrome?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890565/
Develop: developmental.
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