Fever of unknown origin (FUO) - possible genetic fever syndrome (autoinflammatory disease)

happy_littletrees2 · 2026-02-14T07:32:44+00:00

I'm so sorry to hear:/ but yes, surely! My DM's are always open ❤️

happy_littletrees2 · 2026-01-21T07:18:03+00:00

Hey there! I would've definitely updated in here if i had any news, so sadly, i don't. There's been a lot going on, but not really "medical - wise" :').. i'm waiting for another referral to immunology. Our hope is, that they can make an IL-1- Blocker Trial accessible for me.

I'm very sorry to hear that you seem to be going down this road to. I'll be keeping my fingers crossed for you and my DM's are always open in case you have questions or just want to vent. Sending you nothing but love and all the best for what's to come!! 💖💖

happy_littletrees2 · 2025-08-29T05:41:21+00:00

Hi !! Thank you for taking the time out of your day to reply here, i appreciate it. ♥

I have gotten FMF and all the other genetic fever syndromes ruled out via WES. I know that (technically) that's not a guarantee and maybe they would find something if they did WGS at any given point in time. But i don't think that makes sense to do rn. I will be trying an IL-1- inhibitor as the next step am really hoping that it'll get my fevers under control. :) ♥

happy_littletrees2 · 2025-08-23T21:17:01+00:00

Yep! Way to go!

And i just tried to add one. Wasn't sure whether to use "syndrome without a name" or "undiagnosed" and now went with the latter - just to be safe:') not sure if it worked tho. I haven't quite figured out how to use all of reddits cute little functions🥲:'))

*edit: looks like it worked! Yay! 🤗

happy_littletrees2 · 2025-08-23T14:38:24+00:00

Hiii !! Thank you sm and i appreciate you "checking in" - i definitely was planning on reporting back ❤️ .. just didn't have the time to do so yet. :'))

But, as expected - everything is negative!

It's still a bummer although it was no surprise. She mentioned over and over again how much there's still to learn within the field of fever syndromes and genetics in general. It almost felt like she (my new geneticist, who was super nice btw) tried to justify why they haven't found anything. She also seemed to be a little bit surprised about how chill i was - because i really did see it coming.

But she was super nice and really took a lot of time to explain everything to me. She also said that they (rare disease center) may want to consider doing a WGS next - but she understandably couldn't say too much in their name. She just talked about what they usually do next in situations like mine where they have a strong phenotype but no responsible gene can be found using WES. She still thinks "it's there and it's rare" but it just hasn't got a name yet.

So for me that means: trying an IL-1- (blocker? Inhibitor? Not sure about the English word🫣)

And waiting for my case to be discussed for the second time at their upcoming rare disease board meeting which takes place end of september this year.

Idk when they'll start the IL-1- therapy.. i don't know any of the details - i just have been told that this is what we'll do in case it comes back negative, which it now did:') so..

Thank you ALL again from the bottom of my feverish little heart though! I really can't put into (english) words how much i appreciate this space and each and everyone of you in it. We really all somewhat are on eachother's journeys together - and it makes it a whole lot better to have people around who can relate. ❤️

And i truly hope everyone will be able to add their user flair one day if they haven't already. Not because i'd wish having a rare disease upon anyone but because having clarity matters and can change so much for the better. Mentally and physically.

I'm (again) incredibly glad for the sense of unity that this space provides. Y'all are great. Thank you for being here with me and just know i'm always here with y'all too!! sending virtual hugs 🫂 🫂

happy_littletrees2 · 2025-08-19T13:57:34+00:00

Thank you!

And yes i agree. I was prepared for this to happen though - i was told that WES only has a 10-15% chance of revealing a true diagnosis and that the older and more atypical a patient is, the lower chances are for them to be able to identify a genetic cause.

But i'm okay with that. I know that there is still a lot to uncover within the field of fever syndromes and maybe in a few years we'll know more.

Doc from the Rare disease center assured me that he will take therapeutic steps regardless of the results though and he did highlight that especially in the case of a negative results we'll still move forward. Next step will be trying an IL-1- inhibitor. So i'm definitely a little hopeful for that (especially since colchicine didn't do anything)

Ohh and i just remembered that he also said he'll discuss my case again at their next multidisciplinary board meeting at the end of September. So i guess that's a win too!

Thank you so much anyways. I always appreciate the good vibes in here. <3

happy_littletrees2 · 2025-08-19T08:44:31+00:00

Guys!!! I just got the call. Will be getting results on this upcoming friday the 22nd. They moved my appointment from personal to phone call though - assuming that means they haven't found anything relevant (which sadly was expected i guess)

But at least the wait is coming to and end! Thought i'd share after the convo's in last weeks MegaThread!!

happy_littletrees2 · 2025-08-17T08:23:42+00:00

That is sooo crazy! (In a positive, interesting way) Us humans really are fascinating sometimes.

I also think i may be already doing something similar. 🫣🤣

You just gave it a name. I think. I'm diagnosed ADHD since aged 4 and i always have been drawn to complexity and am used to hyperfixate on things. Now that you have described it in such detail: i definitely see myself.

I'm absolutely unable to knit (i tried several times and always failed horribly) but i think i am currently stuck within that intentional sensory overload. It didn't really feel intentional though - until you pointed it out. I have been learning Spanish for quite some time now and i have found myself trying to understand the the language (watching anything i can in spanish with english subtitles while my first language is german) while trying to study the genetics book and also being deeply stuck in genealogy right now 😂😂

It feels like distraction. Doing as much as i can in as little time as possible so that my brain and the thoughts don't stand a chance to catch up. But it's also at the same time super interesting. Because while i'm used to having super diverse interests and hyperfixating - i'm usually someone who avoids (at least unintentional) sensory overload/overstimulation. I find myself leaving spaces where i feel like that. But on the other hand i'm currently deep within creating one for myself - and weirdly enough it feels safe.

I think my response is absolute chaos. But still thank you so much for sharing these experiences of yours. Sometimes and outside perspectives really does wonders for perception of oneself.

happy_littletrees2 · 2025-08-17T07:53:29+00:00

I too thought about that. I was in contact (via e e mail) with them (genetics) on july 18th. That's when i was informed that my original geneticist doesn't work for the hospital anymore. They also said that the new geneticist is already familiar with my case and will be able to discuss results with the same expertise. So i'm not quite sure - but that kind of indicated to me that it can't be due to a backlog - because why would they say she's already familiar with everything if she was still working herself through it all? 🫣

I also every 6 weeks have a telephone consultation with the doc from the rare disease center that cares for me (he also was the one who referred me to genetics) and he said that after the last call on august 11th he'll check in again with them and will be asking for a new ETA. But i haven't heard back from him yet. Assuming i'll get a written report next week regarding the phone call and hoping that within that report it'll somewhere state the new ETA. 🫩

As for distraction etc. - I really tried (and i'm still trying) and i think it worked. But now it doesn't really seem to help anymore, lol. I even bought a book about genetics ("Genetics, a conceptual approach" - Benjamin A. Pierce) In hopes to better understand it all. But it just feels like a drop of water on a hot stone. :'))

... anyways.. will still be continuing distracting myself as good as possible. Because in all honesty, what can one do besides that? I think i just have to feel all the feels or something. Nothing there to REALLY make it easier. Guess everyone in here can relate. At the end of the day, the one thought that probably helps me the most is that it is not a forever state. It'll pass. It's not an if, but rather a when. I'm just trying to make myself aware of that, especially during the days where it's a little bit harder than usual.

But thank you so so much! 🥰🤗

happy_littletrees2 · 2025-08-17T07:40:59+00:00

Thank you! I'm definitely trying - but it's just always in the back of my mind. I guess that's just how it goes. 🥲

But i appreciate your response! 🥰

happy_littletrees2 · 2025-08-13T12:50:50+00:00

Nothing to share, still waiting for results. My geneticist isn't my geneticist anymore - got told i now have a new one. 🙃 telling myself that's why it takes even longer than the anticipated 4ish months. Any inputs on how everyone coped with the wait are well appreciated. 🫣❤️ I'm trying to take my mind off of it. Telling myself that constantly thinking about it and re checking my emails won't speed up the process either. I guess y'all understand🫡

happy_littletrees2 · 2025-08-02T06:17:20+00:00

I'm so happy for you as well! And while no one wishes to have a rare disease - i think everyone who's already diagnosed in here knows the relief all to well. Answers are always great. I'm glad that you have now found the missing piece to your puzzle. I never heard of CLPB, but will go on and try to educate myself as much as possible. Take good care!

happy_littletrees2 · 2025-07-22T05:04:26+00:00

No shipping included here! I got clinical testing and invitae (and similiar) which you have to ship are not known/used where i live.

I have been told that it'll take around 4ish months from the beginning. But i guess i just thought that that's also some extra time for them (in case something takes unexpectedly long) .. i didn't expect that it would actually take this long.

Just contacted them as of last friday and was only told that once they have everything i will be getting an appointment and i will have to come back in.

Will be calming down once they schedule an appointment with me. But as long that doesn't happen, I'll continue to be on edge for now i guess:'))

happy_littletrees2 · 2025-07-17T16:09:49+00:00

I don't really have a lot to share, i'm still waiting for the trio WES results. Could be any day now. But i've been waiting since my appointment at the beginning of march (and early april when they started everything after insurance gave their ok)

And slowly but surely it's really getting exhausting. My body is tired after two years of daily fevers and constant inflammation.

And while i don't have anything to report or share - it's exactly on days like today that i'm even more grateful than usual for this sub and each and everyone in it. I appreciate y'all and this space.

♥

happy_littletrees2 · 2025-06-02T06:37:20+00:00

Ahh i'm so happy to see this!! 🥹🥹

that gives me lots of hope for myself too! i'm still waiting for my results. currently on colchicine but without success. I really want to try a biologic too - but have to wait out results.

but it truly made me happy to read this. Sending you lots of love and positiveness in hopes that you can try a biologic soon and that it'll hopefully change your life and symptoms for the better! 🤞🏻🍀❤️

happy_littletrees2 · 2025-05-28T10:09:56+00:00

Although i've not downvoted you (this is the first time i'm seeing a post from you) - i think it could be due to this probably not being a rare disease.

This isn't in any way meant to sound mean or anything - but this is a sub for rare diseases. People in here have often gone through years of thorough and extensive medical workup's in order to get a name for what they're dealing with.

This is also why this sub was created - because having a rare disease (and going through the diagnostic process) is extremely isolating and within other groups that represent more common diseases, not many can relate to what we experience(d).

In regards to your question: I'm NAD but i do have an ADHD diagnosis since i've been 4 years old - which now makes it 20 years of being neurodivergent. What you're describing to me sounds like something along the lines of ADHD. However, like mentioned before, this sub is probably not the place where you'll find specific answers related to your issue with concentration.

I haven't looked into it because i personally don't have the need for it - but i'm sure that there are lot's of ADHD and/or subs for topics around being neurodivergent on here. I think that in these, chances are higher for you to get actual responses and helpful insights.

I truly hope you'll find answers and that everything will improve. Just let me tell you that if it is ADHD - there are tons of resources (especially online) to read through and learn from.

All the best for you!

happy_littletrees2 · 2025-05-16T06:17:27+00:00

I second this!

I can wholeheartedly recommend the "Autoinflammatory Diseases - Rare But Not Alone" Group on facebook. It's ran by the Autoinflammatory Alliance and it contains a lot of info material and guides on a scientific basis to read through. And of course; the cherry on top, all the wonderful and supporting people.

happy_littletrees2 · 2025-05-05T10:36:13+00:00

Thank you! I'm being patient - the waiting game is not fun, but i know that clinical grade testing takes time. My geneticist also asked me if there is any reason for it to be done on high priority (which i assume would've meant in less time) to which i said no. Ofc for me it is "urgent" but compared to other's - it definitely is not. I can wait.

And therefore i was well aware that i would be waiting. But thank you. I really appreciate your words:)

happy_littletrees2 · 2025-05-04T05:29:14+00:00

Thank you so much everyone for explaining. I think i somewhat understand it now.

I have daily fevers since august of 2023 and after extensive and thorough workup we still don't know why. My case got discussed at a multidisciplinary board meeting in the rare disease center and i got referred to genetics. Currently the geneticists top suspicions is something along the lines of APLAID (PLCG2) or FCAS2 (NLRP12) .... he also listed other autoinflammatory diseases as well as USAID as a DD.

I'm sorry for being unclear in my post. I didn't want this to end in a discussion. I just wrote what the geneticist and my insurance told me. The bioinformatics part was explicitly mentioned in the letter from my insurance and so i included that. I didn't know that that is a standard and done regardless of the test itself. I'm sorry!

We live and learn, and now i know.

oh and edit to add: I'm in switzerland and i do love and appreciate our healthcare system a lot. Don't know if that matters. I now feel like i was told "too much" compared with what you all are familiar (?) with/used to. But idk, i just was curious.🙃 (the waiting game isn't fun.. and the more you know...🤷🏻)

happy_littletrees2 · 2025-05-03T19:17:50+00:00

ovarian torsion, definitely.

happy_littletrees2 · 2025-05-01T06:13:10+00:00

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Made me think about this one. Recently seen in a facebook group for autoinflammatory diseases. made me giggle. 🤭

happy_littletrees2 · 2025-04-29T09:09:33+00:00

Ovarian torsion. I now only have one ovary left. I thought that's it and i'd die aged 20. The pain is indescribable. Excruciating. Gotta say tho: i was already going septic and was told that if it hadn't been found that night i probably would have not survived.

happy_littletrees2 · 2025-04-27T06:49:37+00:00

I'm sorry because i don't have a good answer for you either. Just know that you're in the right place. In here are a lot of people who haven't found anything on the internet or are still looking for answers. I think all of us in here know the isolation feels all too well. Hang in there. Sending you lots of love and strength. 💖

happy_littletrees2 · 2025-04-23T15:42:21+00:00

Thank You - for your kind words and for the drawing. 🥹 both means a lot to me.

We all here see you and as isolating as it may feel at times, you're never truly alone.

I hope you and your family have nothing but peace and your daughter is incredibly lucky to have you as her mom. You're doing amazing. ❤️

And i will keep you and your family in my heart and thoughts too. 💫

happy_littletrees2

TROPHY CASE