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The Diary of Stina Lindqvist

Relief Is Not the Word

The Diary of Stina Lindqvist

Forty-nine years with a rare disease that had no name, and the spring it finally got one

A note before the entries

Stina Lindqvist is a pseudonym. The events in these entries come from a real medical history of familial Mediterranean fever (FMF), a rare inherited autoinflammatory disease that went without a name for nearly five decades. Some details have been changed, and words in quotation marks are as close to what was said as memory allows.

The entries run from a first-grade classroom to a dermatologist’s office in the autumn of 2026. The published research behind them comes at the end, so the diary can be read first for what it is: a life told from inside the delay.

The Entries

Age 6

First grade

Jenny P. said I have cootie spots and nobody would hold my hand in line for music. The spots are little and red and all over my tummy and arms, like somebody flicked a paintbrush at me. First they itch and then they burn. Mom put the white cream on again. The doctor said it is eczema, or maybe the soap, and I will grow out of it.

I am trying to grow out of it. I drink all my milk.

At recess I sat on the bench by the wall because nobody wanted to play with me but also because the wall was cool and I was hot. I told the nurse I didn’t feel good so I could go home, and then I really didn’t feel good. I got hot all over and slept on the couch until supper. Mom says I’m a funny kid, sick one day and fine the next. Tomorrow I’m wearing long sleeves even if it’s hot.

Age 7

Second grade

I had chicken pox twice before Christmas. I still have some on my belly but I don’t want to show Mom. I heard Mom telling someone on the phone that I was not faking a fever. How could you fake a fever? That makes no sense to me.

I have missed so much school this year that I might have to do second grade for a second time. It’s not fair. I do all the work they send home, so why do I have to do second grade again? If Mom felt better she would fight for me.

Age 8

The shore

We went to the shore with the Newmans. The first day I fell asleep on my towel and burned so badly that my shoulders went shiny and tight, and Mrs. Newman said I looked like a lobster. That night I started throwing up. I made it to the bathroom, and then I didn’t make it to the bathroom, and I was so hot that Mom said I was like a little furnace.

Everybody else went to the boardwalk. Mom stayed downstairs with me in the apartment with the fan going and a bowl by the bed. I could hear them all upstairs. I felt bad that she had to miss it. She said she didn’t care about the boardwalk, but she kept looking up at the ceiling when they laughed.

By the time we drove home I was fine. Mom told Dad it was the sunburn. I don’t think a sunburn makes you throw up for two days.

Age 8

Third grade

Mom took me shopping for new school clothing. She said it was treat. I hate shopping because nothing fits. I can’t find any pants I can button. We will end up buying things a size bigger so I can wear it more than a year. It doesn’t matter. I can never fit into the waistbands on anything. Mom found a kilt that I am going to wear with a new sweater to the first day of school tomorrow.

Later. I got so hot in school today that I had to go home. I just got hot walking to school. I took off my tights on the playground before I went into school, but I was still too hot. My homeroom teacher said to go to the nurse because I was all red. I can’t miss the first day of school. Where will I sit at lunch? How do I know where my friends are at recess? I can’t go tomorrow. I am so tired. It would be so hard.

Later. I missed the whole first week of school. I’m not even sure if I’m in the right classes. The teachers are mad that I missed the first week.

Age 8

The doctor who looked

Mom took me to a new doctor today because the spots came back on my belly and I had the hot stomach again last week. Her name is Dr. Gonzalez. She has short gray hair and cold hands, and she did something nobody has ever done. She took each of my fingers, one at a time, and pushed the skin at the bottom of my fingernails back with her thumb, and looked at them for a long time under the lamp. Then she said, “Now show me the red spots on your tummy,” like she already knew they were there. I pulled up my shirt.. She wrote a lot.

She asked Mom how often I get the fevers, and how long they last, and whether anybody else in the family gets them. Mom said no, just me. She asked if my legs hurt at night. Nobody has ever asked that. I said yes and Mom looked at me like I’d told a secret.

In the car I asked Mom why she pushed on my fingernails. Mom didn’t know. I liked her. She looked at me like I was a puzzle and not a bother. She said to come back in three months and to bring a calendar with the fever days marked on it. I’m going to mark them in red.

Age 10 The year of Mom’s first surgery

Fifth grade

Mom has a brain tumor. Dad says that it is B-9 and there’s nothing to worry about. But, Mom’s going to have a surgery where they have to lift her brain out of her skull. That is something to worry about, I think. But Dad says it the same way doctors used to say “stomach bug” about me.

We went to see Mom in the hospital. She looked awful. I didn’t recognize her. The first thing she asked me was whether I was still getting the fevers. I said no, but I was burning up the entire trip.

Age 10

Brain doctor

I was in the emergency room again on Saturday for my stomach. It was the worst one. I couldn’t straighten my legs and I threw up on the nurse’s shoes and I’m sorry about that. They did the X-ray and the blood and pushed on me, and then the doctor talked to Dad in the hall for a long time with the door not all the way shut. Mom is in her hospital, not that one.

When we got home I looked up the name of the doctor in the big dictionary in the den. Psychiatrist: a physician who treats diseases of the mind. I read it three times. I don’t understand how a mind doctor is going to fix my stomach. Maybe they have a special medicine that you take with your brain.

Thursday. I figured it out and I wish I hadn’t. Mom had a tumor in her brain and they had to cut it out, and now they’re sending me to a brain doctor. So I have it too. I have the same thing as Mom, and nobody wants to tell me because of what happened to her hair. I’m not going to cry about it. I’m going to be brave like she was, and I’m not going to ask, because then they would have to say it.

After. It was a nice man with a beard and a fish tank. We talked for a long time about school and Jenny P. and Mom’s hair growing back and whether I have bad dreams. He never looked at my stomach. He never said anything about a tumor. He gave me a lollipop and told Mom I was “a bright, sensitive girl,” and I don’t have to go back. I still don’t know what that was for. I still have the stomach.

Age 10

The fitness test

My legs hurt at night again. It isn’t the outside, it’s the inside, like my bones are too tight, or burning up. My feet are all red and hot. I can’t sleep they hurt so much. Dad calls it growing pains. If it was growing I would be the tallest kid in class, and I’m the third shortest.

Today we ran the mile for the fitness test. I finished. I was last, but I finished. By supper my shins were hot like the stove, red and puffy, and when I pushed on them the dent stayed. Mr. K. said some kids will do anything to get out of gym. I wasn’t getting out of gym. I already did gym. That’s why they hurt.

Age 10

We learned about cystic fibrosis today. Amanda has it. It’s why she’s absent from school so often. I want my disease to have a name. You don’t get blamed for making things up when your disease has a name.

Age 11

New town

We moved. Dad’s job. Nobody here knows about the fevers, which Mom says is a fresh start. I think it means nobody here is going to believe me either, and they haven’t even had the chance to not believe me yet.

There is no Dr. Gonzalez here. We never went back for the three-month visit; first Mom was too tired, then we were packing. My fever calendar is in a box somewhere. Mom’s headaches are back. She says it’s the move.

Age 11

A sensitive tummy

That’s the third time this year. It starts under my belly button and slides down low on the right, and I can’t stand up straight. My fever was 103. Mom drove me to the emergency room. A doctor pushed on my stomach, and they took blood, and then they said it wasn’t my appendix, it was a stomach bug.

Mom gripped the steering wheel with both hands the whole way home and didn’t turn on the radio. When the doctor said stomach bug, she said, “That’s what you said last time.” He said, “Mrs. Lindqvist,” in the voice grown-ups use on dogs. In the car she cried and said she wasn’t crying.

By Sunday I was fine. Totally fine, like it never happened. That is why everyone thinks I’m lying.

Nana says I have a funny tummy. I wrote FUNNY TUMMY inside the cover of my notebook, so at least it has a name.

Age 12

The backpack

Things that hurt today, from the ground up: my feet, my shins, the backs of my knees, my back. The floors at school are concrete under a carpet as thin as a towel, and by third period, standing in the lunch line feels like standing on a road. Then we sit, and the desks are built for people whose feet reach the floor. Mine don’t. My legs hang and go numb and by the bell I have to shake them out like a wet dog.

My backpack weighs twenty pounds. I know because I put it on the bathroom scale, and then I put it on again because I didn’t believe it. There are no lockers on the second floor, so I carry every book all day, and my shoulders have dents. Then gym. Gym is the worst hour of my week. Mr. D. runs us, and I come out red and soaked through and shaking and I sit in the hallway afterward until I can walk without my legs folding. The other kids are sweaty. I am wrung out. It isn’t the same thing. I asked the nurse for a note and she asked if I had my period. I said that’s not what this is. She gave me an aspirin.

Mom says I’m growing. Dad says everybody’s backpack is heavy. I’m still the third-shortest in my grade. If this is growing, it’s growing something other than me.

After Mom’s second surgery

The thermostat

It came back and they had to go in again. Now Mom can’t take the heat at all. She sits in front of the box fan with a wet washcloth on her neck, even in March, and she won’t go outside in August. The surgeon said it can happen when they operate in there, because the part of the brain that works like a thermostat sits right above where the tumor was.

I didn’t tell her that I can’t take the heat either. In gym in June I go grey and sit down and the teacher thinks I’m being dramatic. So there are two of us in this house who can’t take the summer, and neither one of us says so.

After Mom’s second surgery

Nobody’s in charge

Since the operation Mom sleeps in the afternoons and Dad works late, so if I get the fever I get myself the Tylenol and the bucket and I lie on the bathroom floor where the tile is cool. We don’t go to the doctor anymore unless it’s the emergency room, and we don’t go to the emergency room unless I can’t stand up. Doctors cost money and they say the same thing every time anyway, and Mom can’t do the waiting room with her head.

I used to think grown-ups had a plan. Now I think there is a plan for Mom, sort of, and there is no plan for me, and the difference is that Mom has a scar they can point to.

Age 12

In my corner

The emergency room sent me to a psychiatrist again. Different hospital, same idea. Stomach so bad I couldn’t stand, fever of 102, blood and X-ray and nothing, and then a referral. This one was a woman with a gray braid, and there was a box of tissues on the little table next to my chair, which told me what she expected. I decided I wasn’t going to waste it.

I told her everything. I told her how Mom’s brain tumors crushed her. Not her head. Her. That she used to fight with the school and argue with the doctors, and now she sits in front of the fan and says “do what you think is best, honey.” I told her I am sick of being told there’s nothing wrong with me. I’m twelve, and I have been told there’s nothing wrong with me by more grown-ups than I can count, and every one of them is a grown-up and I’m not, so who wins? I told her that after the second operation Mom gave up on a lot of things, and one of them is me, not on purpose, and there is nobody in my corner anymore, so I just have to figure it out by myself. I said all of it, flat, in order. I didn’t use the tissues.

She listened, and that was worth something. Then she wrote “adjustment” something on her pad and said that what I was feeling was a very normal reaction to a parent’s illness, and would I like to come back and talk more about Mom. About Mom. I had talked about my stomach for ten minutes and about Mom for two, and she picked Mom. I said no thank you.

In the car I decided something. From now on, when I say what hurts, I’m going to say it once, like reading a grocery list, and then stop. If you cry, they write down that you cried.

Age 13

Tylenol

It isn’t heavy bleeding, whatever the school nurse thinks I mean. It’s my legs. It’s deep in the calves and the thighs, a cramping ache that starts the day my period starts and keeps me awake. Two Tylenol take the edge off for about an hour, and then it comes back. I lie there pushing my heels into the mattress, trying to make the muscles give up.

Mom asked if I wanted to see the doctor. I said no. I know what they’ll say: growing pains, or cramps, or that it’s normal for some girls. They’ll say normal, and I’ll have spent a whole appointment being told I’m normal.

Age 13

Truant

It happened again. It was the first day of my period, and by lunch I had a fever and my knees were swollen and hot, like two grapefruits under my jeans. I was in bed for three days. Other girls get cramps. I get the flu once a month, on schedule.

Today a policeman came to the house, a real one with a belt and a radio. The school sent him because of all my absences. He called me truant. I didn’t know that word, so I looked it up after. He stood in our kitchen and talked to Mom like she was the one who’d done something wrong. He said it’s the parent’s legal responsibility, that there are consequences, and that kids this age will try anything to stay home. Mom kept saying, “She’s sick, she has a fever, feel her forehead.” He didn’t feel my forehead. He just wrote something down and handed it to Mom.

After he left, I heard her on the phone telling Nana, “They think I’m keeping her home, that she’s pretending so she can stay home. It’s the same story, Mom, she has a fever. They think I’m a bad mother.”

I asked Mom if she believed me that I’m sick. She said that she’s always believed me but that everyone else doesn’t believe us. I told her that I felt guilt, like it’s my fault so many things happen because I get sick and there’s no name for what I have so everyone thinks I’m faking it.

Next month I’m going to school no matter what, even if I have to crawl.

Age 14

The cycle

I’ve worked out the pattern, and I wish I hadn’t, because now I can see it coming. Day one of my period: the fever. Then the vomiting, the kind that doesn’t stop when there’s nothing left. Then the legs. Three or four days of it, then it lifts and I’m fine, and then four weeks later it happens again.

I’ve been to the emergency room too many times now to be believed. That’s a real thing that happens to a person: you use up your credibility. On the first visit they run tests. By the third they ask whether there’s a lot of stress at home. By the fifth they read the chart before they look at me, and their face changes before they’ve said a word. You can feel that kind of shame through a curtain.

Nobody has ever asked what all the visits have in common. I know what they have in common. It’s on my calendar.

Age 15

Unremarkable

They took my appendix out on Tuesday. The surgeon called it textbook: fever, pain low on the right, white count up. He said I was lucky we caught it in time, and that fifteen is right on schedule for an appendix. Today at the follow-up he said the pathology report was back and the appendix was normal. “Unremarkable,” he said, like that was good news. I asked what caused the pain, then. He said sometimes these things are hard to explain, it was probably an early appendicitis that settled down or a virus, and anyway, it’s out now, so I’ll never have to worry about it again.

Three weeks later

The pain came back. Same place, same fever, new scar. I didn’t tell anyone.

Age 16

The first time I believed them

Last night I couldn’t breathe in. Well, I could, but every time my lungs filled up, a knife went in under my ribs on the right. So I took little panting breaths all night like a dog in August. Mom took me in at six in the morning. They did an EKG and an X-ray, and then they asked a lot of questions about school, and whether I had a boyfriend, and whether everything was okay at home. Mom’s face went white. The doctor said it was anxiety. She said teenage girls carry a lot of stress in their bodies.

I didn’t feel anxious until she said that. Then I did. On the drive home Mom asked me, very carefully, whether something was wrong at home. That’s what the doctor gave us: a new thing for my mother to be afraid of, which was that it was her.

Now I’m lying here wondering if I made my own chest hurt. If I can do that, what else am I making up? The spots? My legs? My stomach? From now on I’m not telling people when things hurt. It’s embarrassing to be wrong about your own body.

Age 17

October to February

It started with strep in October, the real kind, white patches and a fever of 104 that for once everybody believed, because they could swab it. Ten days of the pink medicine. Then, six weeks later, the spots. Not the little ones from when I was six. Hundreds of them, red teardrops, across my chest and back and arms, as if somebody had flicked a paintbrush at me for an hour. The clinic doctor said guttate psoriasis, from the strep, and gave me a cream and a photocopied page about it, and said it would run its course.

Then in January the left side of my back caught fire, a burning stripe from my spine around to under my ribs, and three days later a band of blisters came up along it. Shingles. At seventeen. The clinic doctor said that was unusual for my age, and asked whether I’d been under a lot of stress.

I have been in bed, or on the bathroom floor, or in the nurse’s office, since October. I can’t sit back in a desk chair against the shingles. I can’t carry a backpack. I look like something out of a plague book, the psoriasis doesn’t wash off, and people step back from me in the hall. I have missed forty-one days. The guidance counselor called me in, showed me the number and said I would have to repeat senior year to graduate. I said I’d rather not.

So I’m done. I signed the paper. Mom signed under me and didn’t say anything, and Dad said I could get a GED at the community college, people do it all the time. I know what everyone thinks it means. Here is what it means. I had strep, and then my skin turned into a map, and then a nerve caught fire, one after the other, October to February, and every one of them got its own name and its own cream, and nobody once asked what kind of person gets all three in a row. I’d like to know. I’m going to find out, and I’m not going to do it in that building.

Age 20

What the folder said

Today I read my own chart. The nurse at student health at the community college left the folder open on the counter while she went for a cup, and I turned it around. Under Assessment someone had written: Recurrent vague complaints. ?Somatization. Pt a bit of a hypochondriac.

Vague. A fever of 103 isn’t vague. An ankle swollen to twice its size that shrinks back to normal by Thursday isn’t vague either. The only vague thing in that folder is the explanation.

I cancelled on Laura for the concert, the third time this semester. She said, “You’re always sick,” and she didn’t say it nicely, and I can’t blame her. How do you explain an illness that has no name and never lasts? By the time anyone could see it, it’s gone. I’m starting to look like a liar to everyone, the girl in the mirror included.

Age 25

The first week

I moved into an apartment for grad school on a Saturday. By Sunday night I was at 103, and I spent the whole first week of the program on that mattress with the boxes still taped shut. I missed orientation. I missed the lab-safety training. I missed my first meeting with my advisor and sent an email saying I’d picked up a bug on the drive.

It wasn’t a bug. It was the move. Every big thing I have ever done, my body has marked the same way, with a fever right at the start, like a toll. Everyone else in my cohort met each other that week. When I finally walked in on the second Monday, I was the one who hadn’t shown up.

Age 26

Flu and dehydration

I could not stop throwing up. Not a stomach bug’s worth. All night and into the morning, until it was only bile and then nothing, and I was still heaving. I drove myself to the hospital because I couldn’t stand up in the shower. They hung two bags of fluid and put something for the nausea into the IV. The discharge sheet said influenza and dehydration.

Nobody swabbed me for flu. I didn’t have a cough. I had a fever and a belly that hurt when I breathed, and three days later I was back in the lab as if nothing had happened, which is also not how the flu works.

Age 27

What a grad student can afford

I keep a roll of antacids in my lab-coat pocket, next to the Sharpies. The heartburn started my first semester and hasn’t let up: a burning behind the breastbone after every meal, and some nights without any meal at all. Student health sent me for an endoscopy. They put a camera down my throat and found nothing. Clean esophagus, clean stomach. The report said reflux, likely stress-related. Graduate student.

My back is the other thing. Some weeks I can’t sit through a seminar. The student insurance doesn’t cover a back that isn’t broken, so I pay a chiropractor cash, forty dollars a visit, out of a stipend that doesn’t cover rent. He cracks things and it helps for a day. I think of it as buying a day.

Age 27

Possible

The ER again, the right side of my belly this time, the pain that folds you in half. The ultrasound tech was quiet for a long time. The doctor came back with the report and read me the line: possible ovarian cyst. Possible. They sent me home with pain pills and a follow-up I couldn’t afford, and by the time I could have gone, it was gone, the way it always is.

I’m starting to understand that possible is what they write when they don’t know and need to write something.

Age 28

Things That Were Not Anxiety

At two in the morning I woke with a pain in the middle of my chest. It got worse when I lay back and better when I sat forward, so I sat hunched over the kitchen table like an old woman over soup. In the ER the first doctor listened for a long time and said he could hear a “rub.” The echo showed a little fluid around my heart, and the EKG changes were “diffuse,” not a heart attack. Then the next shift came on. That doctor read my chart, looked at me, and said it might be anxiety. Or reflux.

There was fluid around my heart. I saw it on the screen. Anxiety doesn’t make fluid.

I’ve started keeping a list: the date, my temperature, where it hurt, how long it lasted, and what they called it. At the top of the page, in capitals, is the title: THINGS THAT WERE NOT ANXIETY.

Age 30

Moving home

I finished. The degree is in a tube on the back seat. And the week I moved home from graduate school I was so fucking sick I could barely carry the boxes: fever, throwing up between trips from the truck, lying on the cold floor tiles of the bathroom. I’m right back to where I was. Five years, and my body marked the end exactly the way it marked the beginning.

I came home partly for Mom. She wasn’t right. There was a spot on the floor of the kitchen when I visited at the holidays and it’s still there today, 6 months later.

Age 33

Try to relax

Month fourteen. After the appointment we sat in the car in the parking lot, holding hands, and neither of us said anything for a long time.

The doctor said the tests were “mostly normal.” The bleeding I’ve had since I was fifteen, heavy and flooding, is “within the range of normal for some women.” The pelvic pain that comes with the fevers is “probably ovulation.” She said a lot of couples conceive right after they stop trying so hard. She said, “Try to relax.”

I’ve been trying to relax for thirty-three years.

Age 34

The year before

The pleurisy came back, the worst it has ever been. At sixteen it was a knife on one side. This time it was both sides and it would not let go: every breath stopped halfway, like walking into a wall. I slept sitting up in a kitchen chair for four nights because lying down felt like drowning. The urgent-care doctor listened and said it sounded like a pulled muscle from coughing. I hadn’t been coughing.

I didn’t tell Mom. She was having a bad year of her own, though none of us knew yet how bad. On the list: PLEURISY, BOTH SIDES. “Muscle strain.” I didn’t know it was the last year I’d have a mother to not tell.

Age 34

The Eye

I couldn’t see out of my eye today. My left one. It was so blurry, so I went to the eye doc in town. He said I had to go see another doctor on the east side of the city. I wasn’t worried until I heard his tone of voice on the phone. He asked if I could come and see Dr. A and then he said in a tense, stressed voice, “Her pressure is 75.” I found out that it should be less than 20. Of course, we caught the train coming through town. The one that stops at the Agway forever. Yeah, of course. The white of my eye turned red and D was really worried.

They gave me, like 6 drops. I have to wake up every 2 hours and put drops in. I am taking two different blood pressure meds to lower the pressure.

A week later: My eye is perfectly fine now. They called it Posner-Schlossman. Interesting, I found some articles as to how it is associated with autoimmune diseases. Darwin had it.

Age 35

The other lesson

We buried Mom today.

The summer she was dying, I was cycling too: the vomiting, the legs, the fever coming up on schedule. I drove to her house sick and sat with her and said I was fine. Two women in one room, each lying about her own body to protect the other.

I keep wondering where she learned to hide it. Maybe she learned it from me. She spent all those years sitting beside me in exam rooms while doctors told her nothing was wrong with her daughter, and a policeman stood in her kitchen and told her she was the problem. You learn what happens when you tell a doctor the truth. She learned it watching me, and I learned it again watching her.

She’s the one who taught me to push through. Today I learned the other lesson, the one about where pushing through leads you when nobody will look.

Age 35

The spots again

Red paintbrush spots all over my trunk. And, I mean all over. Funny though, my psoriasis is totally gone.

Age 35

Nobody can tell

I’m teaching in person now, full time, and I’ve gotten good at a new skill. Nobody can tell.

Here is how. Ibuprofen at six, noon and six, whether I need it or not, so the fever never gets far enough ahead to show. A cardigan over everything, even in September, because a cardigan hides sweat. A spare blouse in my bag. A route to the faculty bathroom that doesn’t pass the department office, for the days I have to throw up between classes. On the worst days, a video with the lights down, so no one sees my face. I rinse my mouth, fix my lipstick, walk back in and say, “Where were we?”

Age 36

Again

I had pleurisy again. I’ll be honest that I think I might have had a sinus infection all summer. Then bronchitis, then pleurisy, then collapsing in front of my class and having the paramedics take me to the ER. I missed the first 2 weeks of school and am immediately brought back to the episode of my youth where I wore a kilt to school on the fist day and I popped a fever so bad I threw up and missed the first week. Of course, my brain says these are connected. My brain says it’s all connected.

The worst is that I now, again, don’t look dependable to my employer. I wanted to tell her that I am dependable. I’m the most dependable thing I know. Every few weeks, regular as rent, my body sets itself on fire for two or three days and then puts itself out. You could set a calendar by me. But nobody believes in a pattern that doesn’t come with a diagnosis attached.

Age 36

The Accident

I hit a tree the other day. I just came over a hill and there was no snow fence and snow. Like an idiot, I hit the brakes, the car fishtailed, and I hit a tree. The airbag blew my glasses off. I had blood running down my lip. At first, I thought my left boot had been knocked off but when I unwedged it from the dashboard, I realized it was hurt. I’d been pinned by the dashboard into the seat. At the ER I got muscle relaxers and pain killers. I feel fine. My knee hurts, but I feel fine.

3 weeks later: Fever. Again. It’s like the accident turned on something and it’s burning a slow, persistent, intense fire in all my muscles. I sleep 10 hours a night and it’s not enough. What is wrong with me?

Age 37

Teardrops

Strep again, in March, the real kind, swabbed and believed. Ten days of antibiotics. I came out of the fever cycle, and six weeks later the teardrops came up exactly as they did senior year: hundreds of red drops across my chest and arms and back. Guttate psoriasis, twenty years after the first time. Same trigger, same pattern, same cream.

You can’t hide this one under a cardigan. It was May, and hot, and it went up my neck and onto my hands. A student asked if it was contagious. I missed eleven days that semester.

Age 39

The performance

I have been hiding for four years and I am tired in a way that isn’t the fever. Some weeks the hiding costs more than the illness does. I plan every semester around a body I pretend I don’t have.

I read an article tonight about a woman with a rare cancer who said the worst part was that nobody had heard of it. I thought: at least yours has a name for people not to have heard of. Mine is still just me.

Age 40

Undetermined significance

This is the year of my stomach. I’ve counted: fourteen appointments since January. Primary care, a gastroenterologist, a second gastroenterologist, an allergist, a nutritionist, the scope from the top, the scope from the bottom, the pill camera, the breath test, the gluten test, the gallbladder ultrasound, the CT with the chalk drink. I have been told IBS. I have been told “functional.” I have been told to keep a food diary, which I did, in a spreadsheet, with columns, and which no one read. Every scope is clean. Every scan is unremarkable, my favorite word. My belly still swells until I can’t button anything, I still throw up on schedule, and I still run the fever.

The second gastroenterologist, out of ideas, sent me to an immunologist. I liked him. He ran everything. And he found something: a spike. On the protein electrophoresis, where the antibodies should make a smooth, broad hill of thousands of different shapes, there was one narrow spike, one antibody, made over and over by one clone of plasma cells. He said the letters slowly. M-G-U-S. Monoclonal gammopathy of undetermined significance. He said “undetermined” twice, and then he said she was sending me to an oncologist.

The oncologist was kind and fast. He said MGUS is common, it’s a precursor, it almost never turns into anything, it has no symptoms, and he would see me once a year. I said: then what is the fever from? He looked at the chart. He said the fever was not from the MGUS, because MGUS has no symptoms. I said, I know. That’s why I’m asking. He said he would refer me to a colleague.

The colleague is also an oncologist. I found out in his waiting room, reading the referral sheet upside down on the counter, that the reason for referral was “recurrent fever, r/o hematologic malignancy.” So the fever had finally made it onto a piece of paper, in a doctor’s handwriting, as the reason for something. He drew nine tubes of blood. Everything about the clone was small and stable. He said he would track the MGUS every six months. I said, and the fever? He said, we’ll keep an eye on it. He has kept an eye on my MGUS, faithfully, every six months, ever since. The MGUS has never done anything. Neither has the eye.

On the list: MGUS. “No symptoms.” And underneath, smaller: then what is the fever from.

November 2016, age 41

Fever of unknown origin

The neurosurgeon did the discectomy last October. “The disc is fixed,” he said at the follow-up. “Your pain should be gone.” And for a while it was, which is how I finally saw the other thing. My back has always hurt with the fevers. Not an ache. It’s as if a prize fighter has been working on my back all night, kidney shots, over and over, and I wake up bruised on the inside. I always thought that was the disc. This fall the disc is fixed, and the prize fighter still shows up every few weeks, right on time with the fever. It has been that way my whole life. I just never had a clean back to see it against.

So I kept a log, and I decided, one more time, to find the reason. I took it to my primary care doctor. She read it and wrote three words I had never seen on my chart: fever of unknown origin. It felt like progress. It had a billing code.

Then the mill. Gastroenterology again, the same scopes, the same clean pictures. My oncologist, who pulled up the MGUS, stable, and said it wasn’t that. Infectious disease: blood cultures, a CT, a tuberculosis test, and a doctor who said, kindly, that I didn’t seem to be infected with anything. All clear. All of them. The last referral is rheumatology, and the first available appointment is in the spring.

All clear is not a diagnosis. It’s doors closing in a row, politely. I put the log in the drawer and circled the rheumatology date on the calendar. One door left.

Early forties

Ten folders

Here is who I have now: a neurologist, a neurosurgeon, a urologist, an audiologist, an ENT, a cardiologist, a gastroenterologist, a dermatologist, an endocrinologist, and a rheumatologist I saw once. Each of them owns one piece of me, and none of them talks to the others.

The neurosurgeon fixed the disc from the car accident. “The disc is fixed. Your pain should be gone.” The pain that comes with the fevers isn’t gone, so now it’s my fault, or my head’s. The numbness in my feet is on both sides. The neurologist wrote that down and never wondered about it, because the car accident was there to take the blame. When a cold wind hits my face, it fires electric shocks along my cheek. High voices are going quiet: my students’ questions from the back row, the birds in the morning. My bladder has stopped telling me when it’s full. The MRI of my brain shows white spots, “more than expected for age,” “probably small-vessel changes or migraine.”

That’s ten doctors, ten folders and ten tidy explanations, and I’m the only person who has read all ten. I teach biology. I know what a system looks like when I see one, and this looks like a system.

Age 42, the year we stopped

Quiet

We stopped trying this year. There was no particular day. It stopped the way a phone stops ringing: one day you notice it’s been quiet a long time.

We haven’t told anyone, because there’s nothing to announce. Nobody sends a card when a door closes. At the grocery store a woman I used to work with asked, “Did you two ever want kids?” I said, “We did,” and she said, “Well, it’s not for everybody.” Then she told me about her grandson’s soccer.

On the list, in pencil because I couldn’t make myself write it in pen: HEAVY BLEEDING. INFERTILITY. “Bad luck, or stress.”

2017, age 42

Negative

A rheumatologist, finally. Dr. R. was young and had actually heard of periodic fevers. She said the word autoinflammatory out loud, the first person in forty years to say it in a room with me. She ordered a genetic panel, the periodic fever genes, a whole list of them, and I gave the blood and drove home shaking, because for once the test was the right test.

Then she left the practice. Nobody told me. I found out when I called about results and a receptionist said Dr. R. was no longer with the group, and did I want to establish with someone else, first available in March. I said I only want the result. She put me on hold. She came back and said, “It says you’re negative for any of those genetic diseases.” I asked which ones, could she read me the list. She said she couldn’t interpret results over the phone, but negative was negative, and the doctor who signed off had written “no further action.” I asked for a copy. She said to submit a records request in writing.

I meant to. In November I got RSV, of all things, a baby’s virus, and it went into my chest and stayed. Six weeks. The fever on top of the fever. I couldn’t climb the stairs without sitting down on the landing. I taught from a stool. When I came out the other side of it, in January, the records-request form was still on the kitchen table, and I could not pick it up. I have been asking for forty years. Everybody has looked, and everybody has said no, and the one right test said negative. So that’s it. I’m going to live with it. Whatever it is, it’s mine, and I’ll manage it the way I manage the heat, by planning around it and not saying so.

We were still trying, then. I wanted to ask Dr. R. whether any of this had anything to do with that, and by the time I had the nerve there was no Dr. R. to ask.

The immunologist left that same spring, the one who found the spike. At my last appointment he shook my hand at the door and held on a second longer than usual. “Only see MDs,” he said. “No PAs, no NPs. MDs who have been doing this a long time. Promise me.” I promised. I didn’t understand yet that he was telling me how rare I was.

Age 43

Perimenopause

I had a bone density scan today. The technician said “Oh,” and then nothing, which is how I knew. It’s low for my age. The endocrinologist said early perimenopause. My calcium was wandering and my vitamin D was low, and my morning cortisol curve was flat as a table. All of that was probably perimenopause too. Apparently everything that happens to a woman after thirty-five is perimenopause.

Nobody asked why a forty-three-year-old woman was losing bone. Nobody asked what was eating it.

On the list: THINNING BONES. “Perimenopause.”

The years before COVID

Three days

I’ve started planning my teaching around my period, which is a sentence I never expected to write in my forties. The first day is the worst. By noon the fever is up, my knees swell until I can’t bend them, and I stand at the front of the room pouring sweat while I explain cellular respiration. The students probably think I’m nervous.

I used to teach five days a week. I couldn’t hold it, so I went to four, and I’m not holding that either. I come home and lie on the couch, and it isn’t sleepy-tired. It’s burned-out tired, as if something ran a marathon inside me without asking. Recovery used to take a weekend. Now three days isn’t enough. When I look back on these years, all I remember is being tired.

It isn’t only the teaching. The vomiting is back, the way it was when I was fifteen: a day or two of it every cycle, until there’s nothing left to bring up. My belly has gotten bigger in a way that isn’t weight, and some weeks I can’t button anything. My legs hurt all the time now, not only on day one. And my back is going. Every scan is a little worse than the last, and every part of me belongs to a different department.

A doctor suggested progesterone. That was the plan, in full. Progesterone, for a woman running a high fever with vomiting and leg pain on a monthly schedule. Take the hormone, and stop noticing.

Tonight I did the arithmetic, because that’s what I do. Every degree of fever raises your metabolic rate by roughly ten percent. That’s a few degrees, for a few days, every month, for years. I’m not lazy and I’m not out of shape. I’m running a furnace nobody can see, and I’m paying for the fuel out of everything else.

2018 to 2025

The tally

These are the people I have said “familial Mediterranean fever” to, out loud, in an exam room.

One. “That’s a Mediterranean disease. Your family’s Swedish.”

Two. “I’m not really familiar with that.” Then back to the IBS.

Three. “You don’t have the background for it.”

Four. Silence. Typing. Next question.

Five. “Let’s be careful with Dr. Google.”

Six. “Interesting.” That was all she said. Interesting.

That’s six people licensed to practise medicine, and not one of them said “Let’s check.” Two decided my grandparents’ boat tickets ruled it out. The rest didn’t know enough to say anything, so they said nothing, and it turns out nothing is also an answer. It means no.

The seventh time, I didn’t say it at all. I just brought the printout and slid it across the desk.

March 2020

The letter

March 18. I drove home from campus in pain so bad I pulled over twice, once at a gas station and once on the shoulder with the hazards on, just to breathe through it. My back, both legs, and the fever riding along underneath. I had taught three hours standing and I don’t remember a word I said.

When I got home I didn’t take my coat off. I sat at the kitchen table and wrote my letter of resignation. It was short. It said I could no longer perform the duties of the position. I read it three times, and each time it read like an obituary for the person I had spent thirty years building. Then I took personal days to think about the destruction of my life before I mailed it.

That week the college closed. COVID. Everything went online, and I could teach lying on the couch with the camera angled up at my face, and nobody could see me pour sweat or leave to throw up. The letter is still in the drawer. A pandemic saved my career, and I’m not proud of how grateful I was.

2022

The generator

I stopped arguing with myself about the air conditioning this summer. For years I treated it as a character flaw. Other people manage. It’s only July. Put a fan on and stop complaining. This year I accepted it: I cannot be in the heat. Not that I don’t like it. Cannot. Heat brings the fever up, swells my legs and empties me out for days afterward.

So we bought a generator. If the power goes out in August, the house stays cool.

Mom sat in front of a box fan with a wet washcloth on her neck, and I thought that was the surgery. I’m sitting in a cold room in July with a machine in the yard to guarantee it, and nobody has ever operated on me at all.

Radical acceptance is the phrase for this, and nobody warns you how much of the grief arrives at the moment you accept. Accepting it means admitting this is my life, and that I built my house around a disease that still didn’t have a name.

2023, age 48

Again

I had given up, and my body didn’t care. The ER tonight for the right-side pain that folds me in half, the same one as graduate school. Ultrasound. “Possible ovarian cyst.” The same word, twenty-one years later. I’m forty-eight and three years past menopause. I asked whether that was likely. The doctor said cysts can happen at any age. I said, and a fever of 102 at the same time? He said the fever was probably from the pain.

I didn’t argue. I went home and added it to the list in the drawer, and I didn’t even underline it.

2024

A little protein

At a routine check, my urine had protein in it. “A little protein. Recheck it sometime.”

I know what protein in the urine means in a body that has been inflamed for decades. I teach it: the kidney’s filter is starting to leak. I wrote it on the list and underlined it twice. Then I went home and read about amyloid until two in the morning, which is what I do now instead of sleeping.

January 2026

Colonized

Something is not right, and this time I can feel it in a new place. I’m up four times a night, the urine is dark and smells wrong, and my back aches over the kidneys. The urinalysis came back a wall of abnormal: protein, blood, white cells, casts, the whole column flagged. The urologist looked at it and said the word colonized. Bacteria living there without causing trouble, he said, common in women my age. They sent cultures. Nothing grew. They sent them again. Nothing grew again.

So I have a urine that looks like an infection, cultures that say there is no infection, and a doctor who has decided the bacteria are polite. I asked what makes a urinalysis look like that with nothing growing. He said, “Colonization.” I said, but nothing grew. He said that happens. On the list: STERILE PYURIA. “Colonized.” I have been sterile my whole life. Sterile fevers, a sterile appendix, sterile fluid around my heart, and now sterile urine, and nobody has ever once said the word out loud as if it meant something.

February 2026

That must be difficult

Six-month MGUS visit. The clone is the same size it has been for eleven years, which is the one reliable thing about me. I told him the fever is coming every two weeks now instead of every four, and that I wake up soaked, sheets and pillow, three or four nights a week. Night sweats. I said it in the flat grocery-list voice. I know what night sweats mean in an oncologist’s office; I know they are on the list of things he is supposed to ask me about, because he asks me every six months, and every six months I have said no, and this time I said yes.

He said, “That must be difficult.”

Then he said the M-spike was stable and he would see me in six months. I was in the parking lot before I understood what had happened, which is that I had finally told the one doctor whose job it is to care about fever and night sweats that I had fever and night sweats, and he had offered me sympathy for it.

February 2026

Prior history

New dermatologist, for the eczema and the pustules and the red shins. I gave her the history the way I give it now, in order, no adjectives. Guttate psoriasis at seventeen after strep, cleared in my thirties, then eczema. She looked at my skin and then at me and said, “What makes you think that was psoriasis?” I said a doctor told me it was psoriasis, and there was a photocopy about it. She said, “Hm,” and typed. I watched the screen. She wrote: “Patient reports prior history of psoriasis.” Reports. As in, alleges.

I asked for a referral to rheumatology for psoriatic arthritis, because I have psoriasis, or had it, and my joints swell, and that is the sentence that gets you a rheumatologist. She gave me the referral. I don’t think she believed a word of it. I think she thought I’d read about psoriatic arthritis on the internet and wanted it. I did read about it on the internet. I don’t want it. I want somebody to read the chart.

March 2026

The binder

I brought the binder to the rheumatologist. Everything. The fever calendar, forty years of it in one form or another. The list, THINGS THAT WERE NOT ANXIETY, typed up now, four pages. The appendix at fifteen, the chest at sixteen, the pericarditis, the ascites, the knees, the shins, the psoriasis, the shingles, the MGUS, the bone scan, the protein in the urine, the urine that looks infected and isn’t. Mom’s poison ivy. I laid it out on his desk in order and I talked for twenty minutes and he let me.

He examined my joints, which were quiet that day, because of course they were. He said he didn’t see psoriatic arthritis. He said he didn’t see lupus, and the old panels agreed with him. He said the MGUS was a hematology matter and the kidney was a nephrology matter and the skin was a dermatology matter. He said he’d run some labs. I said, is there anything that does all of this? He thought about it, honestly, I could see him thinking, and he said, “Not that I can put my finger on.” He is a good doctor. He had every piece on his desk, and he didn’t figure it out, and I drove home understanding that if he couldn’t, nobody was going to.

March 2026

The statin

The cholesterol is sky-high. It has been climbing for years, careful diet, never smoked, and now it’s a number that gets you a phone call. So: a statin. Everybody takes a statin.

Ten days in, it took me apart. My legs went first, then my back, an ache like the flu on top of the fever I already run. Then the headaches, all day, behind the eyes, and my eyes themselves went wrong, dry and gritty and then blurry, so that I couldn’t read my own list. I could not drink enough water; I was dehydrated no matter what I did, lips cracked, dizzy standing up. I stopped it after three weeks. The nurse said statin muscle aches are common, and to try a different one. I said I would rather have the cholesterol.

I’m not angry at the statin. I’m angry that this is what treatment looks like when nobody knows what’s wrong: you get a pill for one number at a time, and the pill lands on a body that is already on fire, and then the pill gets blamed, or you do. I have a urologist, an oncologist, a dermatologist, a rheumatologist and a cardiologist all looking at me this spring, and not one of them has read another one’s note.

April 2026

It was not negative

So I did what I tell my students to do. I gathered the data. I have a patient portal for every system I’ve ever been seen in, five of them, and I downloaded everything: every note, every lab, every scan report, every referral, going back as far as the portals go, and I opened an AI program, the one I use for grading rubrics, and I started feeding it all in. I said: I am fifty years old. Here is my life. Organize it by organ system, then tell me what you see.

It took a while. It made a timeline. It was a good timeline, better than mine, because it wasn’t tired. And then, partway through the 2017 folder, it asked me a question. It said: Stina, did you know about this genetic test from when you were 42?

I said, oh, yes. That was the rheumatologist who left. It was negative.

It said: It was not negative.

Here is what it showed me. I am putting it in this notebook exactly as it reads, because I want it written down somewhere that is mine.

Page one said negative, if you only read page one. Page two said MEFV. Page two said variant of uncertain significance. And under it, the note. The note said what to do. The note said to correlate with the clinical picture, and the clinical picture was sitting in a binder on my kitchen table, and had been sitting in exam rooms for forty-nine years. Nobody turned the page. A receptionist read me the first line, a doctor who never met me signed “no further action,” and I put a form back on a table and went to bed for six weeks with RSV, and that was that, for nine years.

I sat on the kitchen floor again. Not the way I would in May, when the call came. This was a different floor. This was the floor where you realize the answer has been in your own house the whole time, in a portal you had the password to, and you needed a machine to read it to you because every human who could have wouldn’t, and you couldn’t either, because you’d been taught that negative was negative.

Then I stood up, and I printed page two, and I made an appointment.

April 2026

The other gene

I didn’t sleep the night the machine read me page two, so I went back to what I actually know how to do. I teach biology. I still have my library login from the college, and I searched the journals the way I make my students search them: the gene, then the disease, then the reviews, then the case reports, newest first.

I read about familial Mediterranean fever for a week. Pyrin. The inflammasome. Interleukin-1 beta. Attacks of fever that last one to three days, in the belly, the chest, the joints, and the hot red skin on the fronts of the shins. I read the diagnostic criteria with a pencil and ticked them off in the margin. I read that it is rare in Northern Europeans, and then I read the case reports of Northern Europeans who had it anyway.

Then I read page two again, slowly, like a lab report instead of a verdict, and I saw what I had skimmed past the first night. MEFV was not the only gene on it. There was a second line: LPIN2.

I had never heard of it. It led me to Majeed syndrome. Fevers. Bones that inflame with no infection in them, chronic recurrent multifocal osteomyelitis, in the legs and feet and backs of children. A rash made of neutrophils, Sweet syndrome. I read that list three times. The hot shins at ten. The feet and back and legs from eleven to fifteen, the concrete floors, the backpack. The chicken pox twice at seven that was never chicken pox. I was reading my own childhood in a journal I didn’t know existed.

Majeed is recessive; it takes two broken copies of LPIN2. Page two lists one. One copy of LPIN2, and one copy of MEFV, and the MEFV change is a well-known one that the labs can’t agree about: some call it harmless, some don’t. This lab called it a variant of uncertain significance. Uncertain, undetermined: the same word they gave the antibody spike at forty, a word that means we can see it and we don’t know what it does. By the textbook I’m a carrier twice over, and carriers are supposed to be fine. But in the first Majeed families, some of the parents who carried only one copy had psoriasis. I put the pencil down at that one. And plenty of people with only one MEFV change have FMF anyway, fevers and all.

So I drew it the way I would for my students. Pyrin is supposed to be a brake on interleukin-1 beta. A changed pyrin lets off the brake, so the fire starts faster and burns hotter. Lipin-2 is supposed to calm the macrophages, the big cells that sound the alarm. With less of it, they sound the alarm louder, and more interleukin-6 goes out and primes every other cell in the neighborhood. One half-broken gene makes the spark. The other half-broken gene soaks the kindling. Neither one alone looks like its textbook disease. Together they look like me.

This is why the interpretation matters, and why it took forty-nine years. Nobody finds two diseases that are each only half there. Every doctor who looked at me saw one piece, and it didn’t fit their disease, so it was nothing. One gene points to colchicine. The other points to a fire that may start somewhere colchicine doesn’t reach. A doctor who reads only the MEFV line will hand me half an answer and think it’s the whole thing. I have had enough half-answers.

So I stopped reading abstracts and started reading author lists. Who writes about both genes, and still sees patients? Two names kept coming back, both on the East Coast. I wrote them on an index card. Then I read one of the affiliation lines twice. Head of rheumatology, at the university where I earned my biology degree. I used to eat lunch on the steps of that building, feverish, telling myself it was stress.

2026,

The arithmetic

The 2017 report is on the kitchen table, page two on top. The answer had been sitting in a filing cabinet, and then in a portal, for nine years, while I said the name of my own disease to six people who shrugged, and it took a program that doesn’t get tired to turn the page.

I did the math on the kitchen table, because that’s what I do. Forty-nine years from the first fever to a name. Nine of those years the name was already written down in my file. I can’t count the ER visits, and I stopped trying to count the “anxiety.” I counted two psychiatrists before I was thirteen. I counted one appendix, removed and normal, at fifteen. I counted one high school diploma. I counted one job, and I think two, if I’m honest about why I left the second one. I counted the friends who stopped inviting me because I always cancelled. I couldn’t count my kidneys. Nobody can tell me yet what those years cost them.

And the one I keep coming back to is the children.

In 2017 we were still trying. I’ve read the papers now. Untreated FMF is linked to infertility, and when the disease is controlled, fertility mostly isn’t impaired. Colchicine is considered safe in pregnancy. I don’t know if we would have had a child, and nobody can know. That’s the part I can’t forgive. It isn’t only that the delay may have taken the child. It took the chance to find out.

May 2026

Every door

I made a second list tonight. Not the things that were not anxiety. The doors. Every time somebody could have opened one.

Two, the fever after the beach. Eight, Dr. Gonzalez, who asked about fevers in the family and wanted a calendar, and then we moved. Ten and twelve, two psychiatrists for a belly that hurt. Fifteen, a normal appendix in a jar. Sixteen, a knife in my chest called anxiety. Seventeen, strep, teardrops and shingles in a row. Twenty-five, the first week of graduate school on a mattress. Twenty-six, flu without a flu test. Twenty-seven, heartburn with a clean scope, and a possible cyst. Twenty-eight, fluid around my heart. Thirty-four, both lungs. Thirty-seven, strep and the teardrops again, twenty years apart, the same pattern twice. Forty, the spike. Forty-one, fever of unknown origin, the whole mill, all clear. Forty-two, the right test, read wrong. Forty-eight, possible, again. Forty-nine, protein.

Every one of those was a door, and every one had a doctor standing in it. I don’t think most of them were bad doctors. Each of them saw one day of a disease that only makes sense across fifty years, and one day of me looked like nothing.

People keep saying, at least now you know. Here is what a diagnosis at fifty-one is. It’s a key that fits every one of those doors, handed to me after the house has already been built around the locks. At two, it would have bought a childhood with colchicine in it, and my knees, and senior year, and maybe a child. At fifty-one it buys an explanation, a pill, and kidneys we are now trying to protect after the fact. I’ll take it. But don’t call it an answer. It’s a receipt.

Late May 2026

November

“Rheumatology.”

“Hi. I’d like to make an appointment with Dr. Y.”

“Okay, let’s take some information. Are you a new patient?”

“Yes.” Name. Date of birth: April eleventh, 1975. Address, phone, insurance, the card read out digit by digit. Reason for the visit. “Recurrent fevers,” I said. I have said those two words to a lot of receptionists.

Keys clicking. “The next new-patient appointment I have with Dr. Y is in November.”

It was May. I did the arithmetic out of habit: six more months, versus forty-nine years. Six months is nothing.

“I’ll take it.”

She read me a date and a time, and then: “Do you have a referral?”

“No,” I said. “But I have a genetic test from ten years ago that says I’m positive for two of the genes Dr. Y works with.”

A pause. “What genes?”

“MEFV and LPIN2.”

A different pause. “Can you hold, please?”

“Yes.”

I held. Two students crossed the lot with iced coffees. I have been on hold my whole life, but this was the first time I knew what I was waiting for.

“Ms. Lindqvist? Are you still there? Could you come in to see Dr. Y in two weeks?”

“Yes.”

I said it before she finished the question. Then I sat in the car until my lunch was over. For forty-nine years, the name of my disease got me a shrug. The names of two genes got me two weeks. I cried.

June 2026

Every page

I made a dossier for Dr. Y. Thirty-six pages of history, in order, one year per heading, plus twelve pages of data: every CRP and SAA and albumin I could find, the M-spike every six months for eleven years, the urinalyses, the bone scan, the fever calendar. My husband printed it at work and bound it. I have handed some version of this binder to nine doctors. Most of them weighed it with their eyes and set it down.

Dr. Y read it. All of it. He turned every page, and he ran his finger down the columns of numbers, and twice he went back to check one year against another. He didn’t talk while he read, and I didn’t either. Then he examined me the way Dr. Gonzalez did when I was eight. He held each hand under the lamp and pushed the cuticles back and said, “Yes.” He looked at the netting on my shins and said the words livedo reticularis out loud, as a finding, not a question. He asked when the fronts of my lower legs go red and hot, and I said with the fevers, and he nodded like a man confirming a train time.

Then he turned his screen toward me and showed me pictures. Other people, in a flare. Shins that looked like mine in July. A belly. A hand. “This is what you have,” he said. “This is what it looks like in other people.” I had never seen it on anyone else. I had spent forty-nine years being the only one, and here was a folder of strangers with my legs.

I cried. I’ve never had the opportunity to cry at something good. I reached over without looking and my husband’s hand was already there.

The whole way home I thought about Mom. Not about the delay, for once, and not about the doctors. Just that I wanted to call her. I wanted to hand her the phone and say, it has a name, they have pictures, it isn’t only me. I wanted to sit at her table with my binder and her box fan and say the word to her, familial, and watch her face. That’s the one appointment I can’t get. Everything else I can fight for.

Later that week.

I found it. I was looking in the closet in the living room for old medical records and I found Mom’s MRI. I took these from the house after Mom died. When I knew I’d never be back, 12 years ago now. My mother didn’t have Parkinson’s Disease. She had a meningioma on her sella turcica pressing against the midbrain.

It all makes so much sense now.

2026, a month after the call

My brother and mother

I saw a picture of my brother today. I hadn’t seen one in twelve years, and I hadn’t cared to. Facebook asked me if I knew this person, and I said to myself, no, I definitely do not know that person. For a moment I couldn’t tell which man in the picture was him. The one labeled as my brother wasn’t a fifty-five-year-old. He was someone aged well beyond his years by spending everything he had fighting a disease without a diagnosis.

I remembered something else tonight. One summer Mom had “poison ivy” on the fronts of both lower legs. It was red and hot and shiny, she was miserable, and then it was gone in a few days.

I have that rash, in the same place on the front of the lower leg. It comes with the fevers and leaves when they do. The FMF literature has a name for it, erysipelas-like erythema, and it’s the one skin sign considered characteristic of the disease.

So tonight I made a list with two columns, Mom and me.

Heat intolerance. Both.

High cholesterol. Both.

Urinary retention. Both.

A low-back disc that gave out. Both, in our forties.

Heavy, abnormal bleeding. Both, in our forties.

Menopause at forty-five. Both.

A red, hot rash on the fronts of the lower legs that nobody could name. Both.

Any one of those could be nothing. Seven of them, in two women in one family, is a pattern. Nobody ever put our charts side by side, because nobody ever read even one of them all the way through.

Dad sent off a genetic test last week. He will not raise genetic testing with my brother. My nieces could have these diseases and nobody is going to tell them.

Nobody tells you this about an inherited disease: the gene isn’t the only thing that gets passed down. Mom spent my childhood being told her daughter was fine and being looked at as if she was the reason I wasn’t. I spent her last years watching a slow tumor take her while she hid it from me. She was traumatized by my illness, and I was traumatized by hers. Now it turns out we may have had the same thing all along, each of us sick alone, in the same family, in the same kitchen.

If we’d had a name for it, we could have been sick together. That’s some heavy intergenerational trauma right there.

2026, six weeks on colchicine

Autumn crocus

Colchicine is a small white pill that comes from the autumn crocus. It has been the standard treatment for this disease since the 1970s, which is before I was born, or near enough. It’s old and it’s cheap. Six weeks in, the fevers are further apart and softer when they come. Last Tuesday I noticed it was Tuesday, and I felt fine, and I couldn’t remember the last attack.

That should feel like pure good news, and mostly it is. Then I look at the pill in my palm and think: this? This was all it took? A flower and a doctor willing to read page two?

The good news and the rage come in the same pill. I take them both with breakfast.

July 2026

Mom’s last MRI

After Dr. Y, I kept going through the boxes. Not mine this time. Mom’s. Dad had kept everything in the same accordion folders she used for the tax returns, and near the back I found the report from her last MRI, the one from the year she died, and the films on a disc that my husband got to open on his old laptop.

There it was. The meningioma, sitting on the sella and bulging forward, pressing up into the midbrain. I know that anatomy. I teach it. I looked for the substantia nigra, the stripe that goes pale when Parkinson’s eats it, and it was black and dark and perfectly fine. Her nigra was intact. Whatever made her shuffle and shake was the tumor leaning on her midbrain, not Parkinson’s disease, and she let everyone believe it was Parkinson’s because a tumor coming back a third time was not a thing she could say out loud. People who didn’t know thought it was Parkinson’s, and she was happy to have them think that.

She knew that tumor was back and didn’t want to tell anyone. I get it. I don’t think I’d want a third brain surgery at fifty-five either. I understand, because I never told her how bad the fevers had gotten, or that they even still happened. We loved each other the same broken way, by hiding.

So I read about meningiomas the way I read about amyloid, until two in the morning. Persistent ones, the ones that keep growing back, especially in that spot, are full of monocytes and macrophages, and the papers describe an inflammatory environment those cells make and feed on, with IL-1β among the signals that recruit them. IL-1β. The same alarm that has been going off in me since I was two. I am not saying her tumor was my disease. Nobody can say that, and I’m a biologist, so I won’t. I am saying that a woman with hot red shins every summer, who could not take the heat, whose daughter has a disease that pours IL-1β into the blood, grew a tumor three times in a place that inflammatory cells love, and nobody ever put those two charts on one table. I have put them there now.

Dad’s test is still pending. I already know what I think it will say.

Summer 2026

The waiting room

At the second visit I asked Dr. Y the question I had been saving. What do the guidelines say for someone like me? One MEFV change of uncertain significance, one LPIN2 change, a clone of plasma cells nobody can explain, and fifty years of fever.

He didn’t pretend. “There aren’t any,” he said. “Not for this combination. Guidelines are written for the people we’ve seen enough of to count. You’re going to be a study of one. We treat what we can see, we measure, and we adjust.”

Uncertain significance. Undetermined significance. I have both now, one in my blood and one in my genes, and I have learned what the words mean from the inside. They mean a waiting room with no clock on the wall. Nobody is late for your appointment, because there isn’t one. There is no protocol to follow, so every doctor you meet has to decide, alone, whether to believe you, and the easy decision is always no. And they mean the one doctor who does believe you is working it out as he goes, carefully, with you, and saying so. It’s the kindest thing anyone has done for me in a medical building. It’s also terrifying.

Here is something nobody thinks about. Every disease in the textbook had a first patient. Before there was a name, before there was a gene, before there was a paper with a table in it, somebody had it first and was told it was nerves. Somebody’s fevers were stress for decades so that a later patient could be diagnosed in an afternoon. We don’t tell their stories. We name the disease after the doctor. The people at the edge of the research pay for the map with their lives, and we have almost no empathy for them, because it’s hard to feel for someone whose suffering doesn’t have a name yet. It isn’t a happy story. It’s mine.

I’m somewhere near that edge. I hope somebody gets diagnosed faster because of me. That would be something. It wouldn’t be relief.

September 2026

The dermatologist

Today I saw a new dermatologist about my skin, the same skin that left me on the recess bench in first grade. She read my problem list, saw familial Mediterranean fever, and smiled at me. “You must be so relieved to finally have a diagnosis.”

I told her the truth. I said I’m filled with resentment and anger. She looked surprised, then uncomfortable, and then she looked at her screen.

I don’t think she meant any harm. I think people want a diagnosis to be the end of the story, the moment the music swells. For a six-year-old with a rash, it would have been. For a twenty-year-old with a folder that said hypochondriac, it would have been. At fifty-something, a diagnosis doesn’t open a door. It’s a light coming on in a room you’ve already lived in, showing you all the furniture you cracked your shins on in the dark.

Relief is for people who got their time back.

The last entry in this notebook

What I would have said, if she’d asked

A name gives you words. It doesn’t give you years. Please stop congratulating me on something that should have happened when I was six.

I don’t trust you, and I’d like you to understand what that looks like, because it’s not rudeness. I bring a binder to every visit. I write down what you say while you’re saying it. I bring the papers. I watch your face when I say “familial Mediterranean fever” to see if you know what it is. When you reassure me, I don’t hear comfort. I hear the start of a door closing. It took decades of being handled to teach me that, and one kind appointment won’t unteach it. Maybe a hundred will. I’m willing to find out, but it’s you who has to earn it now, not me.

This is what would have helped.

Read the whole chart, not just today’s visit. It was all there.

Treat ancestry as a probability, not a rule. My grandparents’ boat was never a lab test.

When you order a test, follow up on the result. Page two is part of the report.

When you don’t know, say “I don’t know. Let’s find out.” Silence is not neutral.

A symptom that comes back isn’t a personality. Neither is the woman describing it.

Ask about the family, then listen to the answer. My mother’s “poison ivy” was a clue.

I kept the list for over twenty years. Tonight I added the last line and closed the notebook. At the bottom of the page, under everything else, I wrote the answer to the question at the top.

THINGS THAT WERE NOT ANXIETY: All of them.

The Evidence Behind the Entries

Stina’s diary is one life, but the pattern in it has been measured. This section follows the diary’s own order and sets each entry beside what the peer-reviewed literature says. The full references come after.

How long is “too long”?

Across rare diseases, the time from first medical contact to diagnosis has been measured again and again. A survey of 6,507 people living with 1,675 different rare diseases in 41 countries found an average of 4.7 years, and more than half were diagnosed more than six months after first seeing a professional (Faye et al., 2024). Spain’s national registry found a mean delay of just over six years (Benito-Lozano et al., 2022). An earlier industry-sponsored patient survey reported an average of 7.6 years in the United States, about eight physicians seen, and two to three misdiagnoses along the way (Shire, 2013). That report is not peer-reviewed and its sample was small, but its figures are widely quoted.

FMF is worse. In an international survey of 1,043 people with autoinflammatory diseases, half of whom had FMF, adults waited an average of 14 years for a diagnosis (Rech et al., 2024). In a European juvenile-rheumatism cohort of 960 FMF patients, one in five waited more than ten years (Bourguiba et al., 2024). Stina’s 49 years is far out in the tail of that distribution. It is not outside it.

“It’s anxiety”: Ages 6 to 20

Being told the problem is psychological is not an occasional misfortune in rare disease. It is close to a shared experience. A German Delphi study of rare-disease experts found that “a typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems” (Blöß et al., 2017). In the autoinflammatory survey above, psychosomatic disorder was the single most common misdiagnosis (210 patients), ahead of irritable bowel syndrome (200) and fibromyalgia (140). 271 respondents said outright that they had been dismissed, and that the dismissal delayed their care (Rech et al., 2024).

Sociologists have described what that label does to a person. Nettleton (2006) interviewed patients living with “medically unexplained symptoms” and found that legitimacy was at the centre of it: “society does not readily grant permission to be ill in the absence of disease.” Two psychiatric referrals from emergency departments before she was thirteen, both for abdominal pain, sit squarely inside that pattern. Stina’s decision at sixteen to stop telling people when things hurt is the behaviour that research predicts. Eventually the patient stops reporting what the clinicians have stopped believing.

Triggers, and the sunburn at the shore: Age 7

FMF attacks are usually provoked. In 266 children with exon-10 MEFV mutations, 93.6% could name a trigger. The commonest was fatigue (69.8%), followed by prolonged standing (49.5%), emotional stress (47%), cold exposure (42.6%), insomnia (36.6%), menstruation (18.5%), high-fat food (15.8%), exercise (15.3%), travel (13.4%), starvation (11.9%), sunlight exposure (5.4%) and physical trauma (2.5%) (Kucuk et al., 2026). A bad sunburn is physical stress, and a severe attack that follows one is not a strange reaction to too much sun. The same principle shows in the skin: the rash characteristic of FMF is “triggered by physical effort and subsides spontaneously within 48 to 72 hours” (Barzilai et al., 2000).

Attacks of FMF peritonitis come with nausea and vomiting and resolve completely within a few days, leaving the person well between episodes (Deuitch et al., GeneReviews). That complete recovery is exactly what makes a child look, to a busy clinician, as though nothing much happened.

A note on heat. Cold exposure is a commonly reported trigger; heat is not on that list. Stina’s heat intolerance is her own observation about her own body, and the diary presents it that way rather than as a documented feature of the disease.

The first day of the period: Age 12 and the years before COVID

Menstruation is a recognized trigger of FMF attacks. In 151 adolescent girls with FMF in Ankara, 23% had attacks associated with menstruation. Those girls had developed symptoms earlier (median age 2.5 against 5 years) and had more frequent attacks both before and after their first period (Batu et al., 2025). Estimates vary widely. An earlier Jerusalem study found menstruation-associated attacks in 7% of 141 women (Ben-Chetrit & Ben-Chetrit, 2001). In a 2026 adolescent cohort, 38% reported them, but the authors caution that not every menstrual flare meets formal attack criteria and that ordinary dysmenorrhoea is common (Kaya et al., 2026). The attacks respond to treatment, including more colchicine, on-demand anti-inflammatories or IL-1 blockade (Batu et al., 2025). A girl whose attacks have a name can be treated instead of reported as truant.

Fever is also expensive. “A 1°C rise in body temperature requires a 10–12.5% increase in metabolic rate” (Evans et al., 2015). A fever of 2 to 3°C lasting several days a month keeps the body burning roughly a fifth to a third more fuel than baseline for the length of the attack, on top of the cost of the inflammation itself.

The policeman in the kitchen has a place in the literature too. In focus groups, adolescents with chronic pain and their parents described felt stigma: “pain dismissal, faking or exaggerating, and mental health stigma.” It came from medical providers, school personnel, family members and peers (Wakefield et al., 2022).

Women wait longer: Ages 30 to 38

Being a woman is an independent predictor of diagnostic delay in rare disease. The odds rise by about 22% in the international survey (Faye et al., 2024) and about 25% in the Spanish registry (Benito-Lozano et al., 2022). The same holds in FMF. An Israeli study of patients whose diagnosis took more than ten years found significantly more women in the delayed group than among controls (Lidar et al., 2005). The juvenile-rheumatism cohort found women delayed more often than men, 56% versus 47%. Its authors suggest that FMF’s abdominal and pelvic attacks are mistaken for menstrual pain (Bourguiba et al., 2024).

That mechanism has a well-studied parallel. Endometriosis carries an average diagnostic delay of about 6.7 years, mostly in primary care (Nnoaham et al., 2011). A systematic review names “menstrual stigma and the normalization of menstrual pain” as a core barrier (Davenport et al., 2023). A review of 77 studies of chronic pain found gender bias built into both the clinical encounter and treatment decisions (Samulowitz et al., 2018). “Within the range of normal for some women” and “probably perimenopause” belong to this pattern.

“You don’t have the background”: 2018 to 2025

FMF is most common in people of Armenian, Turkish, Arab and Jewish ancestry. That is a statement about probability. In Stina’s tally it hardened into a rule. The literature shows what happens when it does.

In the United Kingdom, researchers identified 21 patients of Northern European descent with FMF, all descended from a shared founder dating to around 1460. Every one of them responded to colchicine. One in seven had already developed AA amyloidosis, and the authors wrote that this “may reflect delay in diagnosis associated with extreme rarity of FMF in this population” (Rowczenio et al., 2017). A later British family carried FMF through four generations; the father died at 52 after a kidney transplant, with amyloidosis found at post-mortem (Rowczenio et al., 2020). In Germany, the median diagnostic delay in 64 patients was eight years, a quarter had AA amyloidosis, and amyloidosis was significantly associated with later diagnosis (Ebrahimi-Fakhari et al., 2013). In Amsterdam, a third of FMF patients had had abdominal surgery before anyone named the disease (Hageman et al., 2019). That is Stina’s normal appendix, repeated across a clinic.

A 2026 case report of FMF in a patient of Northern European descent puts the lesson simply: FMF should be considered “regardless of ancestry” (Ammari et al., 2026). Worldwide, FMF is now recognised well beyond its classic populations (Ben-Chetrit & Touitou, 2009).

Page two: 2017

A test result that is ordered but never acted on is a recognised failure of the system, not a quirk of one office. A systematic review of 19 studies found that 6.8% to 62% of laboratory results in outpatient care were not followed up, and it noted “few guidelines regarding responsibility for patient notification and follow-up” (Callen et al., 2012). In a study of primary-care practices, patients were not informed of clinically significant abnormal results, or no one documented informing them, 7.1% of the time. The rate ran as high as 26% in some practices (Casalino et al., 2009).

Genetic results carry an extra risk. MEFV has an unusually high share of variants whose significance is unknown or disputed (Van Gijn et al., 2018), and early international quality checks of hereditary-fever testing found high genotyping error rates and clinical interpretation “scarcely provided” (Touitou et al., 2009). A variant labelled uncertain can still come with a classic FMF picture (Ulu et al., 2025). Whether labs and clinicians have a duty to go back to patients when understanding improves is still debated. Most authors call it “ethically desirable but practically unfeasible” (Otten et al., 2015). In the autoinflammatory survey, 92% of patients said genetic testing was available but only 69% had been tested, and patients’ access to full results and interpretation was “still suboptimal” (Rech et al., 2024).

What the delay does to the body: 2024

Untreated FMF is not only a series of bad weeks. The inflammation between attacks keeps the liver making serum amyloid A, and over years that protein can deposit as amyloid in the kidneys and other organs. “AA amyloidosis is the most severe complication and leading cause of death in untreated individuals” (GeneReviews; Deuitch et al., 2026). In the juvenile-rheumatism cohort, patients diagnosed more than ten years late had nearly four times the rate of amyloidosis: 10% against 2.6% (Bourguiba et al., 2024). “A little protein, recheck it sometime” is the moment the literature warns about.

What the delay does to a family: the year we stopped

In a Turkish cohort, infertility affected 14.6% of women with FMF. It was predicted by disease severity and by failure to respond to colchicine, and in five patients it reversed once IL-1–blocking treatment brought the inflammation under control (Atas et al., 2020). An Armenian study came to the same conclusion from the other side: infertility was “clearly associated with a more severe disease and a lack of adequate colchicine treatment,” while controlled FMF did not impair fertility (Sotskiy et al., 2021). A systematic review and meta-analysis prepared for the 2024 EULAR/PReS recommendations examined colchicine’s safety in fertility, pregnancy and breastfeeding, and supports continuing it (Otón et al., 2025; Ozen et al., 2025).

None of this can say whether any single couple would have conceived. That is exactly the grief Stina names. Women living with involuntary childlessness in midlife describe a loss that is “ambiguous and intangible,” and the researchers stress that “the loss of hope cannot be pathologised” (Fieldsend & Smith, 2020). Twenty years after unsuccessful fertility treatment, childlessness remained “a major life theme” for every woman studied, and it grew sharper as friends became grandparents (Wirtberg et al., 2007). In other chronic inflammatory diseases, most women who wanted children had fewer than they planned: 55% with rheumatoid arthritis and 64% with lupus (Clowse et al., 2012). The grocery-store conversation is what researchers call disenfranchised grief. It is a loss other people don’t recognise, so nobody sends a card.

Two women in one kitchen: what an inherited disease does across generations

The diary’s mother thread describes something the research has studied from several directions, though rarely all at once.

The parent of the sick child. A meta-analysis of 16 studies found post-traumatic stress disorder in 19.6% of mothers of chronically ill children, about four times the rate in mothers of healthy children (Cabizuca et al., 2009). The leading model of pediatric medical traumatic stress now treats it as a family experience, with the parent’s and the child’s reactions shaping each other (Kazak et al., 2006; Price et al., 2016). When the child has no diagnosis, the burden grows. Parents of children with undiagnosed conditions report “significantly lower hope, perceived social support and coping efficacy” than parents whose children have a name for their illness (Yanes et al., 2017). In narratives from the Undiagnosed Diseases Network, parents “worried that something relevant to their child’s management was being overlooked” (Spillmann et al., 2017). Parents of children with rare diseases describe being silenced by the systems meant to help them, which is how one study earned its title: ‘It would be much easier if we were just quiet and disappeared’ (Currie & Szabo, 2019).

For FMF specifically, mothers of affected children show higher levels of anxiety and depression than controls (Press et al., 2000). Caregiver burden rises with disease severity (Gezgin Yıldırım et al., 2021), though not every study finds a lower quality of life (Koşan et al., 2019). All of these studies involve children who had a diagnosis and treatment. None examined mothers like Stina’s, whose child had neither.

The child of the sick parent. In this diary that child is also the sick one, and she is small when it starts. A meta-analysis found more internalizing problems, such as anxiety and depression, in children of chronically ill parents. The effect was larger when the parent had been ill longer (Sieh et al., 2010). In a community sample of 2,474 young people, “the presence of any family member with an illness is associated with greater risk of mental health difficulties” (Pakenham & Cox, 2014). Families caring for someone with a brain tumor describe feeling “untrained and unprepared” (Schubart et al., 2008). Adolescents who take on a caregiving or emotional role for an ill parent carry a measurable cost: “ill parents’ emotional well-being was directly associated with adolescent distress,” and higher emotional parentification affected the young person’s own adjustment (Chen & Panebianco, 2020). A child who writes “If Mom felt better she would fight for me” is describing that arithmetic exactly: the advocate she needed was busy surviving.

Hiding to protect each other. Researchers call it protective buffering: “hiding cancer-related thoughts and concerns” from a partner in order to protect them. Buffering done “with an intention to help may prove counterproductive, ultimately hurting the object of such protection” (Langer et al., 2009). That study looked at couples, not a mother and daughter, but the mechanism is the same one the diary describes. Families dealing with hereditary conditions also weigh “conflicting senses of responsibility” about what to share (Gaff et al., 2007), and unspoken family “rules” shape who tells whom (Forrest et al., 2003).

Guilt without blame. In families with recessive genetic diseases, mothers worried more about the risk to future generations (James et al., 2006). Mothers across three generations of one inherited condition expressed “guilt at having transmitted the condition, despite there being no question of moral culpability” (Clarke, 2016).

Trauma across generations. A meta-analysis of 42 studies found a moderate association between a parent’s PTSD severity and a child’s distress (r = .35; Lambert et al., 2014). Proposed pathways include “vicarious trauma, learning and modeling, parenting and family environment, and biological influences” (Lehrner & Yehuda, 2018). Claims about epigenetic inheritance of trauma deserve caution: “it is not possible to attribute intergenerational effects in humans to a single set of biological or other determinants at this time” (Yehuda & Lehrner, 2018). The diary’s claim is the psychosocial one, which is well supported: a mother learned to fear doctors by watching them dismiss her daughter, and the daughter relearned it watching her mother.

The poison ivy: 2026

Erysipelas-like erythema “is the pathognomonic skin manifestation” of FMF: “tender erythematous plaques, usually located on the lower legs… triggered by physical effort and subside spontaneously within 48 to 72 hours” (Barzilai et al., 2000). In 782 children with FMF, every plaque was on the lower legs or the tops of the feet (Gezgin Yildirim et al., 2020). It is “frequently mistaken for infectious erysipelas,” and when it was the first sign of FMF, diagnosis took 7.2 years on average, against 2.3 years when it appeared later (Lidar et al., 2013). In the juvenile-rheumatism cohort it was more common among patients diagnosed more than ten years late, and the authors conclude that it “may not be recognized as FMF by all practitioners” (Bourguiba et al., 2024). A rash called poison ivy is one of the clues this disease is known to hide behind.

Mom’s meningioma: what the evidence does and does not say

There is no published link between FMF and meningioma. Large FMF cohorts actually report a lower overall cancer incidence than the general population (Brenner et al., 2018; Vitale et al., 2024), though benign meningiomas may not be counted in those analyses. The diary does not claim the tumor came from the disease.

What the literature does support:

  • Temperature regulation. Problems with it are documented after surgery near the hypothalamus, which sits directly above the sella (Clar, 1985; Grishman & McCormack, 2026). Pituitary hormone deficits after surgery in this region are another possible explanation (Dusick et al., 2008).
  • Parkinsonism. It is a rare but documented presentation of meningioma, in case reports. It has been reported to disappear after surgery and return when the tumor recurred (Bostantjopoulou et al., 2007). One report warns that “diagnosis of the underlying pathology can be delayed by this presentation” (Adhiyaman & Meara, 2003).

The traits on Stina’s two-column list are each common in the general population: heat intolerance, high cholesterol, urinary retention, a failed lumbar disc, abnormal bleeding and menopause at forty-five. The diary treats them together as a family pattern worth investigating, not as proof. A genetic test of the surviving parent is the kind of evidence that can answer the question.

What the delay does to the mind

In an Israeli population study of 7,670 people with FMF and as many matched controls, both depression and anxiety were significantly more common in FMF (Lidor et al., 2021). A smaller Turkish study found anxiety in 53% of FMF patients against 16% of controls (Deger et al., 2011). Delay itself adds to the burden. People whose rare disease took longer to diagnose needed psychological care more often while they searched, and a shorter delay was linked to less irritability and frustration (Benito-Lozano et al., 2023). An unmet need for psychological support was itself a predictor of longer delay (Faye et al., 2024).

Why a diagnosis is not always relief: September 2026

The dermatologist’s question assumes diagnosis is an ending. The research says it is often a second beginning, and not a gentle one. Bury (1982) described chronic illness as a “biographical disruption,” a break in the story people tell about who they are and where their life is going. A late diagnosis disrupts the biography backwards as well as forwards: the patient has to re-read the whole past in its light.

Studies of adults diagnosed late with other lifelong conditions describe the same arc Stina lives. In one, the stages ran “relief and elation,” then “confusion and emotional turmoil,” then anger, then “sadness and grief,” before any acceptance (Young et al., 2008). Women diagnosed with autism in middle age described “re-living life through a new lens” and an adjustment that was painful “at such a late stage” (Leedham et al., 2020). Most directly, a 2026 interview study of patients harmed by diagnostic delay found that nearly all had felt dismissed, “leading to frustration, anger, and self-doubt.” Diagnosis did bring validation, but the lasting effects were “mistrust in the healthcare system and reluctance to seek future care” (McCleskey et al., 2026).

For balance: not everyone diagnosed late responds with anger. In a small study of adults diagnosed with autism after fifty, most described the diagnosis as a positive step (Stagg & Belcher, 2019). Relief and anger can coexist, and which one leads depends heavily on what the delay cost.

Why she doesn’t trust you: the last entry

Philosophers call what happened to Stina epistemic injustice. Carel and Kidd (2014) argue that ill people are especially vulnerable to testimonial injustice, meaning their word counts for less “through the presumptive attribution of characteristics like cognitive unreliability and emotional instability that downgrade the credibility of their testimonies.” Blease, Carel and Geraghty (2017) show how a clinician’s doubt that an illness is “real” can itself delay diagnosis.

The damage to trust is measurable. In 184 patient accounts of diagnostic error, researchers identified 224 instances of unprofessional behaviour, including “ignoring patients’ knowledge” (Giardina et al., 2018). Among 696 patients and families harmed by medical error, most often a diagnostic one, the recurring themes were providers who failed to listen and a resulting “loss of patients’ trust in both the health system and providers,” with post-traumatic stress among the consequences (Southwick et al., 2015). Researchers studying patients with Ehlers-Danlos syndromes named the result clinician-associated traumatization: repeated negative encounters that lead patients “to lose trust in their healthcare providers and the healthcare system, and to develop acute anxiety about returning to clinic” (Halverson et al., 2023). Sebring (2021) argues that medical gaslighting “is not simply an interpersonal exchange” but grows out of assumptions built into health care, and that it falls hardest on women and other marginalised groups.

Stina’s binder, her notebook and her watchfulness when she says the name of her disease are not paranoia. They are what trust looks like after it has been spent.

References

Adhiyaman V, Meara J. Meningioma presenting as bilateral parkinsonism. Age Ageing. 2003;32(4):456–458. doi:10.1093/ageing/32.4.456. PMID 12851195.

Ammari S, Stein D, Ibrahim N. Protracted febrile myalgia syndrome as initial presentation of familial Mediterranean fever in a patient of Northern European extraction thought to have ulcerative colitis. Eur J Case Rep Intern Med. 2026;13(7):007090. doi:10.12890/2026_007090. PMID 42466224.

Atas N, Armagan B, Bodakci E, et al. Familial Mediterranean fever-associated infertility and underlying factors. Clin Rheumatol. 2020;39(1):255–261. doi:10.1007/s10067-019-04773-1. PMID 31502094.

Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol. 2000;42(5 Pt 1):791–795. doi:10.1067/mjd.2000.103048. PMID 10775856.

Batu ED, Bayindir Y, Sener S, et al. A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks. Rheumatology (Oxford). 2025;64(3):1341–1346. doi:10.1093/rheumatology/keae256. PMID 38710490.

Ben-Chetrit E, Ben-Chetrit A. Familial Mediterranean fever and menstruation. BJOG. 2001;108(4):403–407. doi:10.1111/j.1471-0528.2001.00083.x. PMID 11305548.

Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum. 2009;61(10):1447–1453. doi:10.1002/art.24458. PMID 19790133.

Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, et al. Psychosocial impact at the time of a rare disease diagnosis. PLoS One. 2023;18(7):e0288875. doi:10.1371/journal.pone.0288875. PMID 37506095.

Benito-Lozano J, López-Villalba B, Arias-Merino G, et al. Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry. Orphanet J Rare Dis. 2022;17(1):418. doi:10.1186/s13023-022-02530-3. PMID 36397119.

Blease C, Carel H, Geraghty K. Epistemic injustice in healthcare encounters: evidence from chronic fatigue syndrome. J Med Ethics. 2017;43(8):549–557. doi:10.1136/medethics-2016-103691. PMID 27920164.

Blöß S, Klemann C, Rother AK, et al. Diagnostic needs for rare diseases and shared prediagnostic phenomena: results of a German-wide expert Delphi survey. PLoS One. 2017;12(2):e0172532. doi:10.1371/journal.pone.0172532. PMID 28234950.

Bostantjopoulou S, Katsarou Z, Petridis A. Relapsing hemiparkinsonism due to recurrent meningioma. Parkinsonism Relat Disord. 2007;13(6):372–374. doi:10.1016/j.parkreldis.2006.07.017. PMID 17049452.

Bourguiba R, Deshayes S, Amaryan G, et al. Diagnostic delays in familial Mediterranean fever: a Juvenile Inflammatory Rheumatism (JIR) cohort study. Rheumatol Int. 2024;44(12):3107–3111. doi:10.1007/s00296-024-05706-1. PMID 39316109.

Brenner R, Ben-Zvi I, Shinar Y, et al. Familial Mediterranean fever and incidence of cancer: an analysis of 8,534 Israeli patients with 258,803 person-years. Arthritis Rheumatol. 2018;70(1):127–133. doi:10.1002/art.40344. PMID 28992365.

Bury M. Chronic illness as biographical disruption. Sociol Health Illn. 1982;4(2):167–182. doi:10.1111/1467-9566.ep11339939. PMID 10260456.

Cabizuca M, Marques-Portella C, Mendlowicz MV, et al. Posttraumatic stress disorder in parents of children with chronic illnesses: a meta-analysis. Health Psychol. 2009;28(3):379–388. doi:10.1037/a0014512. PMID 19450045.

Callen JL, Westbrook JI, Georgiou A, Li J. Failure to follow-up test results for ambulatory patients: a systematic review. J Gen Intern Med. 2012;27(10):1334–1348. doi:10.1007/s11606-011-1949-5. PMID 22183961.

Carel H, Kidd IJ. Epistemic injustice in healthcare: a philosophical analysis. Med Health Care Philos. 2014;17(4):529–540. doi:10.1007/s11019-014-9560-2. PMID 24740808.

Casalino LP, Dunham D, Chin MH, et al. Frequency of failure to inform patients of clinically significant outpatient test results. Arch Intern Med. 2009;169(12):1123–1129. doi:10.1001/archinternmed.2009.130. PMID 19546413.

Chen CY, Panebianco A. Physical and psychological conditions of parental chronic illness, parentification and adolescent psychological adjustment. Psychol Health. 2020;35(9):1075–1094. doi:10.1080/08870446.2019.1699091. PMID 31818131.

Clar HE. Disturbances of the hypothalamic thermoregulation. Acta Neurochir (Wien). 1985;75(1–4):106–112. doi:10.1007/BF01406330. PMID 3993446.

Clarke A. Anticipated stigma and blameless guilt: mothers’ evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Soc Sci Med. 2016;158:141–148. doi:10.1016/j.socscimed.2016.04.027. PMID 27140840.

Clowse ME, Chakravarty E, Costenbader KH, et al. Effects of infertility, pregnancy loss, and patient concerns on family size of women with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Care Res. 2012;64(5):668–674. doi:10.1002/acr.21593. PMID 22344961.

Currie G, Szabo J. ‘It would be much easier if we were just quiet and disappeared’: parents silenced in the experience of caring for children with rare diseases. Health Expect. 2019;22(6):1251–1259. doi:10.1111/hex.12958. PMID 31466132.

Davenport S, Smith D, Green DJ. Barriers to a timely diagnosis of endometriosis: a qualitative systematic review. Obstet Gynecol. 2023;142(3):571–583. doi:10.1097/AOG.0000000000005255. PMID 37441792.

Deger SM, Ozturk MA, Demirag MD, et al. Health-related quality of life and its associations with mood condition in familial Mediterranean fever patients. Rheumatol Int. 2011;31(5):623–628. doi:10.1007/s00296-009-1334-4. PMID 20049448.

Deuitch N, Chavez De Paz Solis D, Stone D, Ombrello A, Aksentijevich I. Familial Mediterranean fever. In: GeneReviews [Internet]. Seattle: University of Washington; updated 2026. PMID 20301405. https://www.ncbi.nlm.nih.gov/books/NBK1227/

Dusick JR, Fatemi N, Mattozo C, et al. Pituitary function after endonasal surgery for nonadenomatous parasellar tumors: Rathke’s cleft cysts, craniopharyngiomas, and meningiomas. Surg Neurol. 2008;70(5):482–490. doi:10.1016/j.surneu.2008.03.027. PMID 18482750.

Ebrahimi-Fakhari D, Schönland SO, Hegenbart U, et al. Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Scand J Rheumatol. 2013;42(1):52–58. doi:10.3109/03009742.2012.714796. PMID 23137073.

Evans SS, Repasky EA, Fisher DT. Fever and the thermal regulation of immunity: the immune system feels the heat. Nat Rev Immunol. 2015;15(6):335–349. doi:10.1038/nri3843. PMID 25976513.

Faye F, Crocione C, Anido de Peña R, et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet. 2024;32(9):1116–1126. doi:10.1038/s41431-024-01604-z. PMID 38755315.

Fieldsend M, Smith JA. ‘Either stay grieving, or deal with it’: the psychological impact of involuntary childlessness for women living in midlife. Hum Reprod. 2020;35(4):876–885. doi:10.1093/humrep/deaa033. PMID 32268357.

Forrest K, Simpson SA, Wilson BJ, et al. To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet. 2003;64(4):317–326. doi:10.1034/j.1399-0004.2003.00142.x. PMID 12974737.

Gaff CL, Clarke AJ, Atkinson P, et al. Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet. 2007;15(10):999–1011. doi:10.1038/sj.ejhg.5201883. PMID 17609674.

Gezgin Yildirim D, Seven MB, Gönen S, et al. Erysipelas-like erythema in children with familial Mediterranean fever. Clin Exp Rheumatol. 2020;38 Suppl 127(5):101–104. PMID 33124556.

Gezgin Yıldırım D, Bakkaloğlu SA, Soysal Acar AŞ, et al. Evaluation of caregiver burden and coping strategies in parents of paediatric familial Mediterranean fever patients in relation to illness severity, therapy and health-related quality of life. Qual Life Res. 2021;30(5):1347–1354. doi:10.1007/s11136-020-02739-4. PMID 33447957.

Giardina TD, Haskell H, Menon S, et al. Learning from patients’ experiences related to diagnostic errors is essential for progress in patient safety. Health Aff. 2018;37(11):1821–1827. doi:10.1377/hlthaff.2018.0698. PMID 30395513.

Grishman EK, McCormack SE. Approach to the patient with acquired hypothalamic syndrome. J Clin Endocrinol Metab. 2026;111(9):2692–2703. doi:10.1210/clinem/dgag197. PMID 42114110.

Hageman IMG, Visser H, Veenstra J, Baas F, Siegert CEH. Familial Mediterranean fever: a single centre retrospective study in Amsterdam. Neth J Med. 2019;77(5):177–182. PMID 31264586.

Halverson CME, Penwell HL, Francomano CA. Clinician-associated traumatization from difficult medical encounters: results from a qualitative interview study on the Ehlers-Danlos syndromes. SSM Qual Res Health. 2023;3:100237. doi:10.1016/j.ssmqr.2023.100237. PMID 37426705.

James CA, Hadley DW, Holtzman NA, Winkelstein JA. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med. 2006;8(4):234–242. doi:10.1097/01.gim.0000215177.28010.6e. PMID 16617244.

Kaya F, Kucuk E, Koru L, et al. Menstruation in adolescents with familial Mediterranean fever: attack trigger or dysmenorrhoea? A prospective cross-sectional study. Rheumatology (Oxford). 2026;65(4):keag162. doi:10.1093/rheumatology/keag162. PMID 41934112.

Kazak AE, Kassam-Adams N, Schneider S, et al. An integrative model of pediatric medical traumatic stress. J Pediatr Psychol. 2006;31(4):343–355. doi:10.1093/jpepsy/jsj054. PMID 16093522.

Koşan Z, Yılmaz S, Bilge Yerli E, et al. Evaluation of the burden of care and the quality of life in the parents of Turkish children with familial Mediterranean fever. J Pediatr Nurs. 2019;48:e21–e26. doi:10.1016/j.pedn.2019.05.017. PMID 31176497.

Kucuk E, Senpolat S, Kaya F, et al. Reported triggers and self-reported management strategies in children with familial Mediterranean fever. J Clin Rheumatol. 2026;32(1):1–7. doi:10.1097/RHU.0000000000002265. PMID 40694669.

Lambert JE, Holzer J, Hasbun A. Association between parents’ PTSD severity and children’s psychological distress: a meta-analysis. J Trauma Stress. 2014;27(1):9–17. doi:10.1002/jts.21891. PMID 24464491.

Langer SL, Brown JD, Syrjala KL. Intrapersonal and interpersonal consequences of protective buffering among cancer patients and caregivers. Cancer. 2009;115(18 Suppl):4311–4325. doi:10.1002/cncr.24586. PMID 19731352.

Leedham A, Thompson AR, Smith R, Freeth M. ‘I was exhausted trying to figure it out’: the experiences of females receiving an autism diagnosis in middle to late adulthood. Autism. 2020;24(1):135–146. doi:10.1177/1362361319853442. PMID 31144507.

Lehrner A, Yehuda R. Trauma across generations and paths to adaptation and resilience. Psychol Trauma. 2018;10(1):22–29. doi:10.1037/tra0000302. PMID 29323523.

Lidar M, Doron A, Barzilai A, et al. Erysipelas-like erythema as the presenting feature of familial Mediterranean fever. J Eur Acad Dermatol Venereol. 2013;27(7):912–915. doi:10.1111/j.1468-3083.2011.04442.x. PMID 22243424.

Lidar M, Tokov I, Chetrit A, Zaks N, Langevitz P, Livneh A. Diagnosis delay in familial Mediterranean fever (FMF): social and gender gaps disclosed. Clin Exp Rheumatol. 2005;23(3):357–363. PMID 15971424.

Lidor I, Tiosano S, Sharif K, Amital H, Cohen AD, Amital D. The risk of depression and anxiety in patients with familial Mediterranean fever – a cross-sectional study. J Affect Disord. 2021;292:695–699. doi:10.1016/j.jad.2021.05.113. PMID 34157665.

McCleskey S, Hero J, Berdahl C, Schiff G, Upadhyay D, Ahluwalia SC, et al. Between doubt and diagnosis: patient experiences of emotional harm from diagnostic delays. Patient Educ Couns. 2026;149:109610. doi:10.1016/j.pec.2026.109610. PMID 41962448.

Nettleton S. ‘I just want permission to be ill’: towards a sociology of medically unexplained symptoms. Soc Sci Med. 2006;62(5):1167–1178. doi:10.1016/j.socscimed.2005.07.030. PMID 16135395.

Nnoaham KE, Hummelshoj L, Webster P, et al. Impact of endometriosis on quality of life and work productivity: a multicenter study across ten countries. Fertil Steril. 2011;96(2):366–373.e8. doi:10.1016/j.fertnstert.2011.05.090. PMID 21718982.

Otón T, Sağ E, Carmona L, Ozen S. Safety of colchicine on fertility, pregnancy, and lactation: a systematic review and meta-analysis informing the EULAR/PReS recommendations for familial Mediterranean fever. Ann Rheum Dis. 2025;84(6):1045–1051. doi:10.1016/j.ard.2025.02.005. PMID 40023732.

Otten E, Plantinga M, Birnie E, et al. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Genet Med. 2015;17(8):668–678. doi:10.1038/gim.2014.173. PMID 25503495.

Ozen S, Sağ E, Oton T, Gül A, Sieiro Santos C, Bayraktar D, et al. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. Ann Rheum Dis. 2025;84(6):899–909. doi:10.1016/j.ard.2025.01.028. PMID 40234174.

Pakenham KI, Cox S. The effects of parental illness and other ill family members on the adjustment of children. Ann Behav Med. 2014;48(3):424–437. doi:10.1007/s12160-014-9622-y. PMID 24743926.

Press J, Neumann L, Abu-Shakra M, et al. Living with a child with familial Mediterranean fever: does it affect the quality of life of the parents? Clin Exp Rheumatol. 2000;18(1):103–106. PMID 10728454.

Price J, Kassam-Adams N, Alderfer MA, et al. Systematic review: a reevaluation and update of the integrative (trajectory) model of pediatric medical traumatic stress. J Pediatr Psychol. 2016;41(1):86–97. doi:10.1093/jpepsy/jsv074. PMID 26319585.

Rech J, Schett G, Tufan A, et al. Patient experiences and challenges in the management of autoinflammatory diseases: data from the International FMF & AID Global Association survey. J Clin Med. 2024;13(5):1199. doi:10.3390/jcm13051199. PMID 38592017.

Rowczenio DM, Iancu DS, Trojer H, et al. Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue: a case series and genetic exploration. Rheumatology (Oxford). 2017;56(2):209–213. doi:10.1093/rheumatology/kew058. PMID 27150194.

Rowczenio DM, Youngstein T, Trojer H, et al. British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant. Rheumatology (Oxford). 2020;59(3):554–558. doi:10.1093/rheumatology/kez334. PMID 31384939.

Samulowitz A, Gremyr I, Eriksson E, Hensing G. “Brave men” and “emotional women”: a theory-guided literature review on gender bias in health care and gendered norms towards patients with chronic pain. Pain Res Manag. 2018;2018:6358624. doi:10.1155/2018/6358624. PMID 29682130.

Schubart JR, Kinzie MB, Farace E. Caring for the brain tumor patient: family caregiver burden and unmet needs. Neuro Oncol. 2008;10(1):61–72. doi:10.1215/15228517-2007-040. PMID 17993635.

Sebring JCH. Towards a sociological understanding of medical gaslighting in western health care. Sociol Health Illn. 2021;43(9):1951–1964. doi:10.1111/1467-9566.13367. PMID 34432297.

Shire. Rare Disease Impact Report: Insights from Patients and the Medical Community. April 2013. Industry report, not peer-reviewed. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf

Sieh DS, Meijer AM, Oort FJ, et al. Problem behavior in children of chronically ill parents: a meta-analysis. Clin Child Fam Psychol Rev. 2010;13(4):384–397. doi:10.1007/s10567-010-0074-z. PMID 20640510.

Sotskiy PO, Sotskaya OL, Hayrapetyan HS, et al. Infertility causes and pregnancy outcome in patients with familial Mediterranean fever and controls. J Rheumatol. 2021;48(4):608–614. doi:10.3899/jrheum.200574. PMID 33004533.

Southwick FS, Cranley NM, Hallisy JA. A patient-initiated voluntary online survey of adverse medical events: the perspective of 696 injured patients and families. BMJ Qual Saf. 2015;24(10):620–629. doi:10.1136/bmjqs-2015-003980. PMID 26092166.

Spillmann RC, McConkie-Rosell A, Pena L, et al. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2017;12(1):71. doi:10.1186/s13023-017-0623-3. PMID 28416019.

Stagg SD, Belcher H. Living with autism without knowing: receiving a diagnosis in later life. Health Psychol Behav Med. 2019;7(1):348–361. doi:10.1080/21642850.2019.1684920. PMID 34040855.

Touitou I, Rittore C, Philibert L, et al. An international external quality assessment for molecular diagnosis of hereditary recurrent fevers. Eur J Hum Genet. 2009;17(7):890–896. doi:10.1038/ejhg.2008.253. PMID 19172992.

Ulu K, Coşkuner T, Baykal GÖ, Yarar MH, Yiğit RE, Türkmen Ş, et al. The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance. Rheumatology (Oxford). 2025;64(5):2902–2909. doi:10.1093/rheumatology/keaf139. PMID 40067091.

Van Gijn ME, Ceccherini I, Shinar Y, et al. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J Med Genet. 2018;55(8):530–537. doi:10.1136/jmedgenet-2017-105216. PMID 29599418.

Vitale A, Caggiano V, Tufan A, et al. Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries. Front Immunol. 2024;15:1397890. doi:10.3389/fimmu.2024.1397890. PMID 38799474.

Wakefield EO, Belamkar V, Litt MD, et al. “There’s nothing wrong with you”: pain-related stigma in adolescents with chronic pain. J Pediatr Psychol. 2022;47(4):456–468. doi:10.1093/jpepsy/jsab122. PMID 34871426.

Wirtberg I, Möller A, Hogström L, Tronstad SE, Lalos A. Life 20 years after unsuccessful infertility treatment. Hum Reprod. 2007;22(2):598–604. doi:10.1093/humrep/del401. PMID 17124258.

Yanes T, Humphreys L, McInerney-Leo A, et al. Factors associated with parental adaptation to children with an undiagnosed medical condition. J Genet Couns. 2017;26(4):829–840. doi:10.1007/s10897-016-0060-9. PMID 28039658.

Yehuda R, Lehrner A. Intergenerational transmission of trauma effects: putative role of epigenetic mechanisms. World Psychiatry. 2018;17(3):243–257. doi:10.1002/wps.20568. PMID 30192087.

Young S, Bramham J, Gray K, Rose E. The experience of receiving a diagnosis and treatment of ADHD in adulthood: a qualitative study of clinically referred patients using interpretative phenomenological analysis. J Atten Disord. 2008;11(4):493–503. doi:10.1177/1087054707305172. PMID 17712173.

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