3. The Pain

        ‘Morning, Jane, what do you have for me today?’

        I had learned the nurse’s name after that first day. She was actually very nice to me.

        ‘You have only one new patient, Dr. Diaz. Mary Palms.’ She handed me the chart.

        ‘Please call me Lisa!’ She laughed. I asked her that every day but I guess it was stronger than her. ‘Thank you, Jane, see you later.’

        I walked slowly towards the patient’s room in order to finish my coffee in time. It was a good day, I don’t know why but I was in an amazing mood.

        ‘Morning, Mrs. Palms. I’m Dr. Lisa Diaz and I’ll be responsible for you today.’

        She didn’t answer me, although it didn’t seem like it was her fault. Just by looking at her, I could tell she was feeling an enormous amount of pain. She was curled up, holding her abdomen, and moaning. A man, who I assumed was her husband, was beside her caressing her hair.

        ‘Have you already received your morning morphine, Mrs. Palms?’ I had read her history on the chart. A 28-year-old female hospitalized for two days with an acute abdomen. And she also had a miscarriage three weeks before.

        After admission, her initial labs and CT scans didn’t point to any diagnosis. A laparotomy was performed due to the recent miscarriage followed by intense pain but showed no abnormalities, her uterus was perfect. She didn’t have a definitive diagnosis yet and was under morphine to control the pain.

        Both she and her husband looked exhausted. He looked at me and said she hadn’t received morphine that morning yet. I nodded and called the nurse to administer it.

        I tried to collect a detailed history, but she didn’t want to talk, she seemed mad. Pain really changes people, and I felt sorry for her. I decided to wait a few minutes for the morphine to start working otherwise she wouldn’t even let me examine her.

        While it did, I went to check on my other patients, which didn’t take that long. I took one more cup of coffee before getting back to her room.

        She seemed so much better. She was sitting on the bed and eating her breakfast.

        ‘Is the pain better, Mrs. Palms?’

        ‘A little, but it still hurts.’

        I started asking her about any other symptoms. She admitted to previous episodes of abdominal pain, but none as painful as this time. She also reported recurrent numbness in her hands and feet, which she thought was associated with stress.

        Her physical showed a sore abdomen with no rebound tenderness or signs of peritonitis, and she had a slightly reduced sensation on her hands and feet. Everything else was normal.

        I thought about her symptoms for a second. Abdominal pain and peripheral neuropathy. At first, malabsorption syndrome came to mind. Reduced absorption of B12 could explain the peripheral neuropathy, and the abdominal pain pointed to GI tract diseases.

        I didn’t like it though. She denied diarrhea or any other GI symptoms except the pain, which of course didn’t exclude this possibility but made it very unlikely. As one of my teachers used to say, diagnosis is like clothing. If you have to stretch too much to fit, it’s probably the wrong one.

        I thanked the patient for her cooperation and decided to talk to her husband in the hallway for a moment. I wanted to know if he thought that her pain could have something to do with the traumatic experience of losing a baby. I had noticed she seemed a little mad while she answered some of my questions.

        ‘I don’t think so, Dr. Diaz. We were very sad about the miscarriage, but we talked it over. We decided to try again, and she seemed okay before this pain started. And, about the mood, I love my wife, but she can be very moody sometimes.’

        I smiled in understanding. But then, I knew. When he said that, I knew it could be Acute Intermittent Porphyria. I had thought about it before, but it was so rare I didn’t give too much credit. But an acute abdomen with clean laparotomy should at least raise this suspicion. And she even had neuropathy and behavioral changes. It was a textbook presentation.

        ‘Does anyone in her family have any symptoms like that, Mr. Palms?’ I asked since it is an autosomal dominant condition.

        ‘I wouldn’t know. She has no relationship with them for a long time now.’

        ‘That’s okay. Thank you, Mr. Palms. I have a hypothesis of what your wife has. I will discuss it with my attending and come back to talk to you both.’

        After presenting the case to Dr. Collins, I explained my hypothesis of Porphyria and my plan for diagnosis and treatment with intravenous hematin.

        ‘I agree, Dr. Diaz. Well done! That is not an easy diagnosis to make. I’m happy you sought the information needed for this case.’ She smiled kindly.

        I thanked her and left to talk to the family. Of course, there were still specialized tests needed to confirm it, but they should know what we were thinking.

        I came into the room and she was already in great pain again. Her husband was not there. I asked if I could explain to her what we thought was happening and she allowed it.

        ‘We believe that you have Acute Intermittent Porphyria. It’s a genetic condition that makes precursors of hemoglobin accumulate in the body. This causes several symptoms like intense abdominal pain, peripheral neuropathies, which is this numbness you feel, and also behavioral problems, like being mad or upset during attacks.’

        She seemed confused.

        ‘But, I almost never feel these things.’

        ‘Yes, that is because the symptoms usually appear in acute attacks, with almost no symptoms in between then.’

        I could see she was troubled. She had probably never heard of this disease before, so I guess it was expected. Her eyes were watery and I realized I didn’t know what to say, so I tried to comfort her.

        ‘You have a good prognosis, Mrs. Palms.’ Damn, I didn’t know if she knew what that word meant. ‘Patients with your condition usually live a long life when they are diagnosed early. It’s a great thing to discover this now.’

        She stared deep into my eyes.

        ‘But is there a cure?’

        ‘I’m afraid not, Mrs. Palms.’ I searched for words. ‘But there are ways to prevent attacks by identifying possible triggers and avoiding them. And there is also a medication for when the attacks occur, that is called hematin.’

        She didn’t answer me, and I didn’t know what else to say. Nobody wants that diagnosis, but I had not imagined how she would take it. I was so submerged in the interesting diagnostic aspects of the condition that I didn’t realize how much this could impact her life.

        I asked her if I could do something for her, call her husband or her family. She didn’t answer that either.

        ‘I don’t ever want to feel this kind of pain again. I don’t want to live in fear of having another attack.’ She cried.

        I tried talking to her until her husband arrived, but she didn’t say anything else besides those words. ‘I don’t ever want to feel this pain again.’

        When he finally arrived, I left the room shaking a little. I didn’t realize I was giving her such bad news. It was a serious disease of course, but It was like when you tell a patient he has diabetes and he falls apart. You’re so used to it, you don’t expect it. It’s just one more diagnosis of diabetes for you, but for him it is everything. It changes everything.

        I wish I could’ve done a better job talking to her. That diagnosis didn’t change my life, but it changed hers. Well, maybe it did change me since I have never forgotten those words. ‘I don’t ever want to feel this pain again.’

        I got home emotionally exhausted. Jax was already there, watching his traditional Thursday night football.

        ‘Who’s winning?’ I asked while I grabbed a coke in the fridge.

        ‘I don’t know, but you’re definitely losing.’ He mocked me. ‘You look awful. Tough day?’

        I rolled my eyes. ‘Yeah.’ I sighed.

        ‘Want to talk about it?’

        ‘Definitely not. I’m done talking for today.’ I smiled sadly.

        ‘Okay then, so come sit here. Let’s watch the Patriots lose again without Brady.’

        We both laughed.

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Want to read more about Acute Intermittent Porphyria?

https://rarediseases.org/rare-diseases/acute-intermittent-porphyria/

Want to read a real case report of Acute Intermittent Porphyria?

https://www.karger.com/Article/FullText/496420

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AD: autosomal dominant