43. The Pool


It was a nice summer. Jax and I decided to go to the beach since we both had the weekend off. Well, us and Meg, Jax’s girlfriend. I was happy she was coming, I hadn’t seen her in a while back then. The residency was keeping us very busy, and Meg was pretty busy too, she had been working at an attorney’s office and time off was rare.

        The three of us booked a resort nearby and went full relax mode. The pool was amazing, the background music was relaxing, and I was finally catching up on my reading.

After the first day, Meg developed a painful rash. A few small blisters and erosions opened up in her hands and fingers. Not many, but they were bothersome due to pain. At first we thought it was a sunburn, but it was not characteristic. They were darker, and her hands weren’t diffusely erythematous. Either way, she put some cream on it and waited it out until the next day, but it didn’t help.

‘Have you had this before?’ I asked Meg while Jax went to buy her some painkillers.

‘No, never.’

Weird, I wondered what could be causing that. I wanted to ask her more questions, but she seemed in pain and I didn’t want to bother her too much. So I decided to wait for Jax.

‘What do you think it is?’ I asked Jax.

‘Me? I have no idea.’ He laughed. ‘I was never good in derm, I can’t diagnose it just by looking at it.’

‘Well, me neither. But if we are not dermatologists, let’s do what internists do. Let’s look at the big picture.’

‘What do you mean?’ He asked

‘I mean let’s find out if she is having any other symptoms.’

‘Right. Okay, but let’s start without her while she is sleeping.’ He said while jumping into the pool. ‘So, first off, she is not showing any signs of toxemia, no fever or systemic symptoms. She could be having a localized skin infection, but it doesn’t look like one.’

‘Okay, so that’s out for now. She is way too young for pemphigus, and her lesions are small and discrete.’ He nodded. ‘Anyway, think Jackson. Isn’t there anything else that she is feeling? You must know.’

He kept wondering while I went to get us some coconut water. The day was super sunny and we were dehydrating. When I get back Jax said.

‘I can’t think of anything, honestly.’ Jax said when I got back. ‘The only thing she mentioned this weekend is that she thinks her period might be coming earlier because her urine was a little reddish yesterday.’

I didn’t say anything but I kept that information in the back of my mind. It was only when Meg came back to the pool, protecting her eyes from the sun with her hands, that it hit me.

‘Jax, sun exposure!’

‘We’ve discussed that, it doesn’t look like burns.’

‘I know, I am not saying its burn wounds. But I am saying that we haven’t been in the sun for months now and on the first day here she got the lesions. No way it is a coincidence. Her lesions were precipitated by sun exposure, plus her urine is reddish. Rings any bells?’

‘Porphyria cutanea tarda.’ He smiled at me.

‘Do you guys want anything from the bar?’ Meg asked us and we showed our drinks as a sign that we didn’t need anything.

‘Wow, how crazy is that? I can’t shake the feeling that we are being pretentious by diagnosing such a rare disease in my girlfriend.’ He laughed.

‘True, but honestly it does seem like a reasonable cause. She can test for it when we come back and we will know for sure.’ I took a sip from my drink. ‘You know what I think is weird though, why now? I know, we are in the sun. But she has been in the sun before. I always keep thinking that there must be something that explains the timing in cases like that.’

‘Well, there’s a first time for everything, right?’

After we came back Meg measured her urine porphyrin levels and we confirmed she really did have porphyria cutanea tarda. Hepatitis C and hemochromatosis tests came back negative, which ruled those out as possible triggers. She was able to avoid sun exposure and alcohol which controlled her symptoms. It wasn’t for many years later that we came up with a hypothesis on why her symptoms showed at that weekend.

We were having dinner and for whatever reason we started discussing blood donation. We were all donors but Meg was by far the most dedicated.

‘I have regularly donated every 8 weeks since I was 18. The only time I missed a couple of donations was when I was working at that attorney’s office for one year. I was so busy I didn’t have the time, thank God I left that place.’

Jax and I looked at each other and started laughing. Meg was clueless on what could possibly be so funny.

We explained to her that we always wondered why her first porphyria flare was at that specific timing. Since porphyria is a result of a defect in an enzyme of heme production and excess iron can precipitate flares, phlebotomy is a common treatment option for refractory cases. Her blood donations probably prevented her from having flares before that age. When she stopped donating and went to the pool, her blister appeared.

‘Who knew, I thought I was helping people by donating and it turns out I was helping myself too.’ She smiled.

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MC: most common; Def: deficiency; AD: Autosomal dominant; Tt: treatment.

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