2. The Butterfly



    ‘Lisa, I need your help.’     ‘Dear God, Jax. You scared me.’ It was night already, I was still typing up my notes and I was nowhere near finishing it. I was the only resident there still stuck in the bureaucracy. ‘And sorry, I can’t. I’m packed with notes.’

    ‘Lisa, please. Who cares about notes! I’m talking about something serious here.’     ‘Oh, let me guess. Dr. Horror.’ I laughed. Jax was having a hard time with his attending in peds, Dr. Holmes.     ‘It’s not funny, Lisa.’ He seemed mad. ‘I know you like interesting cases, and I need to borrow your brain. Are you helping me or not?’ He was holding the chart in front of me. I thought about it for a moment.     ‘You shouldn’t be asking me for help.’     ‘Oh, c’mon, forget about your first case. It happens.’     I sighed.     ‘Okay. Tell me.’ I took the chart from his hand. I just couldn’t resist it.     ‘Yes!’ He celebrated.     ‘June Albright, 7 years old, was brought to the outpatient clinic to…’     ‘Wait, you want my help with an outpatient? Really?’     ‘Don’t be condescending, Lisa. Just hear me out.’ I rolled my eyes. ‘She was brought with the complaint of spotting and breast enlargement. She had no other symptoms and was previously healthy.’     ‘I thought you said she was 7.’     ‘She is.’     ‘Okay, so she is in the differential of precocious puberty.’     ‘Yes, but this was actually her follow-up visit. She already tested for everything. Most of her hormones were high: estrogen, testosterone, cortisol, thyroid hormone, growth hormone, prolactin. And others like GnRH, FSH, and LH were borderline low, almost in the normal range.’     ‘Okay, so it’s peripheral precocious puberty.’ He nodded in agreement. ‘Ovarian tumor?’ I asked.     ‘We requested a CT scan that showed an ovarian cyst, but it looked pretty benign.’     ‘Congenital adrenal hyperplasia?’     ‘I don’t think so. She is normotensive, and not virilized.’     ‘Did she take any hormones or medications?’     ‘The mother denied. And by the way, the mother had her menarche at fifteen, if you were wondering.’     Damn.     ‘Does the girl have any sisters or brothers?’     ‘She does, one of each in fact, and they both reached puberty at 12.’     ‘No family history then?’     ‘Nope.’     I wondered for a second. It is said that experienced physicians can think of like 8 differential diagnoses, while inexperienced physicians, or residents, could think of 3, maybe 4. It did seem true. I couldn’t think of any more hypotheses.     ‘How benign did that cyst really look?’ We both started laughing and Jax banged his head on the table in frustration.     ‘Dr. Horror is going to kill me.’     ‘C’mon, how bad can he be?’ I tried to cheer him up. ‘He can’t be worse than Professor Jones.’     Jones was our biochemistry professor. Terrible person, he didn’t teach and didn’t care, he just called us all the stupidest people he’d ever met.     ‘Honestly, I don’t know if Holmes is worse, but he is a pretty close second place.’ He had stopped banging his head and just laid there on the table, defeated.     ‘Come, let’s go get some air to clear our heads.’     We walked to the cafeteria to get some coffee and went outside the hospital. I had forgotten to bring my own that day. The coffee from the cafeteria sucked but not drinking it was never an option.     It was a warm night, and Jax turned on his vaper. At college, Jax acquired this horrible habit of smoking cigarettes, even though I, his girlfriend Meg, and all his family hated it. When he got into medical school, seeing those disfigured patients in head and neck surgery made him quit. Or more accurately, switch to electronic cigarettes.     ‘You should quit those, Jax. It’s disgusting.’     ‘C’mon Lisa, give me a break. They smell like mint!’ He smiled. He always joked when we talked about that, acting like I was kidding.     ‘I’m serious, Jax. Those things might kill you.’     ‘You don’t know that. There are not enough studies proving these are bad, they just got out in the market. You should know that since you’re such an evidence-lover.’     He always mocked me about being the number one fan of evidence-based medicine. What can I say? It is just fascinating.     ‘Just accept that you don’t know if this is bad for health or not. There’s not enough information yet.’     ‘Not true. There is enough to know it’s not good. You just don’t wanna see it.’ Suddenly I remembered what Collins said to me in my first case. ‘But wait! That’s it, Jax!’ I shook his shoulders. ‘This case is missing information!’     ‘What the hell are you talking about, Liz?’     ‘Is there anything, anything at all, unusual about the girl? Anything you thought was weird or just didn’t fit?’     He stared at me for a while, a little confused. And then he started to think.     ‘Well, the girl’s face was a little weird.’     ‘Weird how?’     ‘I don’t know, maybe a little asymmetric.’     When he said that, it felt familiar, but I still didn’t quite know it yet.     ‘Let’s go examine her again.’     ‘Wow, wait up. Is the great Lisa Diaz saying she wants to examine a child? Am I getting this right?’     ‘Shut up, Jax. I’m helping you out. And you’re the one doing the talking.’     ‘There’s just one problem, love. She is an outpatient, remember?’     Damn it. I had completely forgotten that.     ‘Well, Jax, then I guess we are going to have to trust your beautiful brain, aren’t we?’     He smiled and raised his hands to show it wasn’t his fault.     ‘If it’s an outpatient, why do you need to figure it out today?’     ‘Because Dr. Holmes said I had to come up with a diagnosis and plan by tomorrow since I was useless already because I didn’t know it today.’     ‘Wow, he really is a piece of work.’ I went over the case once again in my head. ‘You need to think Jax. There is no other way. You interviewed her, you examined her, you must have the answer. We already know she has a weird face, so maybe something there? A genetic facies? A bone problem? And she has an endocrine disorder. Think. What else did you notice and dismiss?’     I could see he was concentrating, retaking his steps, rethinking everything. Then his face lit up. ‘She had a spot! In her back, on the right side. I even teased her about it, she said it was a birthmark, and I said it looked like a butterfly.’     When he said that, the familiar feeling turned into words.

    ‘McCune-Albright!’ I yelled a little bit in excitement.     ‘What the hell is that?’     I ran inside the hospital and he followed me. When we got to the computers I searched for it and showed him.     ‘McCune-Albright syndrome is a rare disorder that affects the bones, skin, and endocrine system. It is characterized by fibrous dysplasia of the bone with abnormal patches of the skin and dysfunction of the endocrine system.’     ‘That’s why her face looked odd. It makes sense! But if it’s genetic, why is there no history in the family?’     I scrolled down a little bit.     ‘It says here it’s caused by a sporadic mutation, not inheritable.’     He kissed me on the forehead.     ‘You’re a genius, Dr. Diaz!’ I laughed. ‘And now I will help you with your notes. You earned it.’     ‘Yes!’ I whispered to myself.     ‘And you know what is the crazy part?’     ‘What?’     ‘The girl’s name is June Albright.’



...



Want to read more about McCune-Albright Syndrome?

https://rarediseases.org/rare-diseases/mccune-albright-syndrome/


Want to read a real story of someone who has McCune-Albright Syndrome?

https://www.ibtimes.co.in/swedish-nurse-who-cries-all-time-reveals-cysts-inside-her-skull-block-tear-ducts-video-762189




Clinical Board




2 comments:

Powered by Blogger.