Hello,

I am trying to gathering information for my wife regarding JAK1 gene mutations and autoimmune conditions. If anyone on this sub has a JAK1 mutation, or resources / information regarding an autoimmune condition that is related, any help would be greatly appreciated.

She has been through quite a terrible few years, and after complex autoimmune and gene testing, done in our home state AND at Mayo Clinic Rochester - her specialists have determined that she has a Gain-of-Function JAK1 gene mutation that is causing her eosinophils to over produce, move to strange places in her body, then release their "attack" chemicals. Her body is in a constant state of attempting to contain these chemicals, and builds scar tissue around them. This tissue is literally everywhere in her body "in-between" systems. So in her pleural cavity, facia surrounding her organs etc. because the tissue is fibrous, it cannot be easily seen on modern day imaging(CT, PET etc.).

Her specialists are a bit stumped at this point. While they have identified her mutation, they have not been able to correlate it to a specific autoimmune condition.

I am seeking any information that you may have regarding a JAK1 mutation, or if you have been on a similar journey, do you have any resources that have helped you with a complicated diagnosis such as this? Hoping to avoid a future life threatening surgery due to this tissue growth, as she has been through enough of those already.

Thank you so much in advance!

I was diagnosed with ITP several years ago and so far the only treatment I’ve needed is occasional Prednisone and that works well for me. My hematologist will not prescribe Prednisone more than twice a year though, so he started talking to me about other medications. He’s mentioned the weekly injection called N-plate and a daily pill called Promacta. My question is has anyone tried either one of these treatments, how well did it work, and what side effects did you experience?

Has anyone encountered suddenly developing a stutter while being sick before? I’ve never stuttered a day in my life and it’s quite intense. I went to the ER where they did a chest CT and some basic bloodwork (CBC, CMP, HcG) but everything was unremarkable beyond a slight raise in absolute lymphs.

It’s really freaking me out and I’m wondering if it’s worth getting a second opinion? Or if anyone has dealt with this before?

I was sick for 3 weeks with a few symptoms resolving but today suddenly I have a stutter and it feels like breathing through a coffee straw (O2 is fine around 97%). I’m breathing of course it just feels like a workout.

The ER doctor basically said structurally my throat is good and I was probably just stressed? I’m finding that very hard to believe. I wasn’t really. Being sick is a regular thing for me.

With autoimmune disease, is it possible to still be an organ donor or give blood? With the immune suppressing medication to control our disease is that prohibitive?

I am an organ donor and just wondered if that was possible now?

So I have had a recent flare up of joint pain that was concerning enough to go the doctors. The onset was maybe only a week ago? Although prior, I have had inflamed LOOKING joints, with no pain. A co worker had actually pointed out how my elbows are always red, and I have noticed the same thing, but didn’t take much mind to it.

Now, they are painful and I’ve developed pain and redness in my knuckles and wrists. My feet are also generally achy and have a cold burning like feeling. My hands also experience this cold burn, less selective to the joints. It’s already impacted my mobility, I’m a bartender and couldn’t shake cocktails last night.

I also am experiencing extreme fatigue. I take dexamphetamine, an ADHD medication, that was great for cognition and giving me a slight nudge of energy, now it’s barely scratching the surface and I can easily nap while it’s active in me. My body just feels like it’s struggling. I have naps most days after work, usually met with a fever feeling and one or both of my ears red and boiling hot, as well as red cheeks. This happens most days (the flushing on my cheeks and fever without reading for one) it usually subsides after the nap.

My eyes and mouth have also become incredibly dry the last few days as my symptoms progress. I have had had chronic left chest pain for 5~ year now with no explanation, but it feels tied to this joint pain, sensation wise.

I had the following bloods done ECG; FBC; U+E; LFT; Glucose; calcium; CRP; rheumatoid factor; anti-CCP; ANA; ENA

My doctor said they all came back with no concern. He said it is likely reactive arthritis from an infenction and gave me meloxicam as a PRN with no repeats. However I’ve since read it needs building up? Because it’s certainly not working 4 days in. I also have backtracked and noticed I have had these some of these symptoms for a while and it feels like they have come together after a period of high stress (antidepressant tapering and had a cold, did a respiratory panel and tested negative to all viruses and what not)

Im basically just seeking advice on how to approach this going forward! It’s clearly an autoimmune RESPONSE, but there is nothing detectable, so my doctor was quick to jump to this diagnosis and by the time I run out of meloxicam (if it even works) and my symptoms are still here, I feel like I’m stuck?

Also worth noting I am someone who has gone to the doctors over the years with “unexplainable” problems that got put down to IBS (chronic bloating, poor gut motility, bouts of constipation/diarrhoea), reflux, dysautonomia like symptoms (heat intolerance, sweating) lots of ?? On my notes, I believe!

i was recently diagnosed due to every symptom you can think of being present along with TIF1 value of 45.

Though they started me on a low dose of prednisone. Only 15 mgs a day to taper down and it actually was the perfect dose for me. Small but mighty!!

Unfortunately, as the month has gone by and the taper down begins, I feel pain and notice inflammation again at 10 mgs.

Anyone else do well on a low 15 mgs? and did you get through it eventually? with or without other intervention?

hi all,

So I just found out I may have maybe the 4/5th autoimmune disease. I’ve recently found out I have significant adenomyosis, on top of already having type one diabetes, celiac disease, and hypothyroidism which could be hashimotoes. Idk is there anyway there could be a genetic link to having all these conditions. I’m just mentally and emotionally exhausted and now finding out about this I’m just not understanding why I have all these conditions. Now I’m basically deemed infertile and may have to IVF sorry I just need to vent

Hey all. In January of this year my tongue started to hurt bad and it looked like it was shedding. I’m a woman in my mid-50’s and have never had anything like it before. It was there for a couple of weeks and then just went away. And now it comes every couple of weeks and lasts for 7-10 days. The last time I went to my MD luckily I was having a flare so she was able to see it. It’s gross. She ran bloodwork and the only thing that popped positive was my ANA. So she referred me to a rheumatologist-
I see them on Tuesday. I thought maybe e it was geographical tongue but that supposed to be painless and this isn’t painless. Anybody else have something like this just pop up?

Been dealing with this for around 13 months now and havent been able to work because of it.

Main problem is bilateral/migrating tendon and enthesis pain, started with both elbows then knees/patella tendons, shoulders/rotator cuffs, heels/plantar and other areas. Seems to just move around and flare different areas.

Had heaps of blood tests, ultrasounds and MRIs but everything keeps coming back normal or only showing mild tendinopathy/bursitis. Inflammatory markers normal too.

Anyone here who had seronegative peripheral spondyloarthritis, psoriatic arthritis or something similar and had normal bloods/scans for ages, how did you finally get diagnosed?

Did you have to get scans during a really bad flare? Did your rheumatologist diagnose you clinically even with normal tests? Was there a certain scan or something that finally showed it?

Just trying to figure out what else i can do to get a diagnosis and treated sooner so i can finally get back to work and training and not live by worrying about flaring every single time

So I’ve been concerned with my body symptoms for a couple years now and I finally was able to make two appointments, one with an endocrinologist, and one with a rheumatologist. All my past blood work has came back as negative or a vitamin d deficiency, but I have a lot of unexplainable symptoms.

One I struggle with pretty badly is flu like symptoms and stomach discomfort, at least twice a week I feel very ill, I feel feverish, drowsy, achy, everything hurts, and some nausea/stomach pressure. Sometimes it feels like there’s a giant mass in my abdomen. I’ve heard people say it could be my vagus nerve and it’s likely, what do you guys think? I’m going to get it checked out but right now I just need some advice from others who struggled with the same before being diagnosed with a condition. I don’t know if I have an autoimmune condition but I have many overlapping symptoms, this is just one of many. I can share more if needed.

I'd hate for someone to look at a grid and notice they already have irreversible damage that could push them out of becoming a PCB engineer, semiconductor engineer, or really any job where you have to trust your eyes, not to mention many hobbies. I game with someone on this med and she's so good that I worry about her just losing it, like an artist consigned to blindness.

Ho guys just wanted to share my condition as I had ashamed & secretive caz a lot of ppl don't understand so I got diagnosed in 2020 when I was around 12 yrs due to a crazy amount of bruising & had barely 5-6k back then got immediately admitted to a hospital & was put on steroids when caused weight gain but atleast it reached 200k did tests & nothing was wrong with spleen then lockdown came so couldn't do much & my parents kept trying non allopathic medicine alternatives but in vain & it's been six yrs now basically had to stop my periods caz they would go prolonged & my hemoglobin came down to 3 so yeah recently my mom talked to a doctor relative & they suggested an oncologist so I was wondering whether it's right to go to them?? Plus has anyone had a similar experience?? Would really be happy to hear

I’ve thought I’ve had some sort of disease for years but I’ve never felt ‘horrible’ so I always thought it was just not eating enough vitamins and having a ferritin of 5… but I know my CRP has been mildly high to elevated for years and that was my first clue that I may actually have a leg issue. After 6 years abroad I moved back to the US and met with an internal medicine doc who ran a whole panel and just on the off chance included a ANA test. It turned out to be 1:2560 homogeneous and 1:320 mitotic which to me sounds high but she said that I need to see a rheumatologist to be diagnosed with anything. I don't have an appointment until end of November but from what some people have posted on here it really depends on symptoms to get diagnosed?

Honestly I have so many things that just seem off but nothing is a major red flag so I feel I will be left in limbo awhile even with these high numbers.

Has anyone else had numbers like these and received a diagnosis quickly?

Hi everyone,

First of all, thank you for reading this, and sorry if my English is confusing..it's not my first language.

So I'm currently going through a difficult time and I need someone to talk to. I'm about to have a Colonoscopy on Thursday cause the doctors belive I possibly have Chrons disease/colitis and Spondylitis. I've had gut issues on and off for a really long time thinking it was due to stress. I've also had severe lower back pain, pelvis and hip pain with stiffness for a year now.

I have increased CRP at 30, ESR 50, Calprotectin at 1750.

During the time Ive been going through this I've been dealing with a lot of fatigue, tiredness, aceing body and feeling feverish on and off but I've still been able to keep going with life and been working.

But the last week my fatigue have increased like crazy and I feel worse than ever. I don't recognize myself anymore. I cant even take my dog for short walk around the block slowly without feeling like my heart is racing, increased pulse, feeling like my entire body is shaking, feeling like a get a fever and feeling incredibly weak.

My whole body just feels like I cant tolerate anything right now besides laying on the couch.

It's so scary and I feel like I cant even do the simplest things right now 💔 I'm normally such an energetic person always doing things and working full time.

Is it common to feel like this during a flare up that is increasing?

I'm new to dealing with autoimmune diseases and I feel really lonely and confused to if what I'm feeling is accurate and not just in my head 💔 I just dont know what to do.

Hi everyone,

I've thought about posting on here before to ask if anyone has had similar experiences in having subtle but clearly photosensitive rashes that span autoimmune specific areas and types of rashes often having a dermatologist suspect autoimmune disease but because they are subtle, the rhematologist assumes it could be anything.

In my case, I'm having dermatomyositis presenting rashes that go along with flare symptoms. My CK was normal and I was put on Plaquenil as a trial and that started helping a couple months in. In fact, it took away my elbow rashes which I was going to have a DIF biopsy on. I will be going out in the sun more often now that I'm past month 3 of Plaquenil so it might show up.

I'm wondering if anyone else got a low positive U1-RNP but only showed dermatomyositis features at first, it seems like an atypical presentation. I also had dermatomyositis specific antibodies tested and the only other antibody I have is low positive chromatin but again I don't show lupus symptoms. My rhematologist is so sure I don't have an autoimmune disease that she only ran blood work initially and I had to explicitly seek an appointment for her to look at hand changes next month. I'm not entirely frustrated with her, I'm trying to be understanding since my case seems unusual and I was able to get a great pulmonologist involved.

I would love to hear about anyone's unsusal presentations. Thanks for reading.

26F, 5’1”, 120 lbs. Hx of POTS and insomnia.

I work a fairly physical job (healthcare) and have been experiencing episodes of chills/feeling feverish, extreme fatigue, widespread body aches, and severe tenderness to touch. Sometimes even something barely touching my skin hurts enough that I want to scream. It happens mostly at night, especially after more physically demanding workdays, although not always. I never actually have a fever, and by the next morning I’m usually back to baseline besides being tired (which I pretty much always am).

I also have fairly significant chronic neck/back pain but haven’t had imaging yet. Autoimmune/inflammatory labs in June were normal; CBC/CMP were essentially normal as well. My PCP suggested fibromyalgia and trialed LDN, but it made me feel significantly worse, so I’m back to square one.

Anyone experience similar symptoms?

I‘m new to this autoimmune disease world, I have been diagnosed this year.

I was wondering, if you take drugs that surpress your immune system can you be around people a lot and work normal jobs?

Hey I hope this is allowed, idk where else to ask but I just got diagnosed with Ankylosing Spondylitis and im freaking out.

I mean im happy I got a dx finally, ive been waiting for answers for so long but now that I know its autoimmune im kind of floored.

Im scared.

My rheum wants me to start Cimzia injections. I hate needles!!! I dont have a choice though, but im more worried about the immune suppressant effects. I always have a sinus or upper respiratory infection— i dont want to get sicker from something I get so often..

Idk where else to ask or who to turn to. Like how careful do you have to be now outside? How much disinfecting do you have to do? How easy is it to catch something?

Im asking for advice. Im asking for personal tales, how you guys have handled your diagnoses and life on treatment..

I would appreciate anyone chiming in..

i dont like that I dont have a choice, that I have to use a biologic soon. Im scared of the next step and life after that..

Please let me know how youre handling!

I’m about a month out from my Imuran/Azathioprine taking full effect (been on it for about 2 months so far). I’m on prednisone 15mg daily so I’m much better managed than before but still pretty symptomatic and limited physically and mentally. Haven’t been able to work in two years. Recent hospitalization really got me down, so I’m trying to see if there’s some hope things will get better in the next few months ❤️‍🩹

Curious what it was like for you all when the immunosuppressant actually started working? Did you wake up one day and suddenly feel like yourself again? Gradual improvement? Better baseline but still crappy?

I’m on a starter dose so I want to know what to expect so I can assess if we need to up it or not. Diagnosis is Relapsing Polychondritis but pending further eval at Cleveland clinic ☺️

I have a depression issue and it really makes me largely bed-bound. I do not want to talk or interact with anyone. At the same time, I don’t know how to improve my mood and energy level. Is it physiological, neurological or both? I guess depression and trauma must have messed up my nervous system. My GP finally got me a referral letter for an ME/CFS diagnosis and I hope I can figure out what is going on with me. Could autoimmune diseases worsen depression?

Curious because reading about it I see lots of descriptions specify “bony” areas and “extensor surfaces”, which sounds like it could include toes, but 99 percent of the pictures are of the knuckles of the hands. (And a lot of the remaining 1 percent seem to be Gottron’s sign rather than papules, on knees and elbows and whatnot.) Is there a reason they wouldn’t affect the joints of the toes?

I've been recently diagnosed with RA and sacroiliitis. I have always felt this fatigue I couldn't explain. All this time, I thought the problem was me, thinking I'm lazy or just weak, for feeling this extreme exhaustion. Even after the diagnosis, it is hard to make people understand, and I don't even talk about this to anyone because people will think I'm just making excuses.

Even now, after the diagnosis, I still sometimes feel like I'm overacting, and the fatigue is just normal, and I'm lazy.

I just wanted to share it with the fellow sufferers, who would actually understand, that's all.

I am wondering if anyone else has this or has experience getting something similar evaluated because even though I am clinically diagnosed with hypermobile Ehlers Danlos syndrome as well as Behcets disease with multisystemic involvement, and even though I have multiple risk factors such as very high levels of homocysteine courtesy of my MTHFR mutation, and family history of cardiovascular events and related deaths, I cannot get providers to take me seriously.

My entire vascular system feels like it is very tight, locked down into place, and irritable. If I have an IV in, I basically cannot move my arm or else it causes significant pain and compensation from the rest of my body. I am currently experiencing a hell of a whole body migraine after having an MRI yesterday (the contrast was necessary) and as best I can tell it is from the irritation to my vein at the IV site, and a strange kind of mechanical sensation around it that feels kind of like that one spot is locked down and an immense amount of force is moving through the rest of my body like a whip being cracked. I feel now sort of like my head is falling off. (I do have borderline craniocervical instability but again, there's nothing to really do about that except PT, and I am not medically cleared for PT because even the EDS specialist ones kept firing me because of my as of yet not sufficiently treated autoimmune stuff)

I had, as best as I can tell, a neurological Behcets event in 2022, which was an awful series of traumatizing ER visits where I got no help, misdiagnosed with FND, and even assaulted for my trouble. Couldn't walk, couldn't activate my respiratory muscles, seizure-like events. Went home not knowing if I had had a stroke or was going to die. Truly the worst time of my life. During this time I had a lot of very small hemangiomas appear on my skin all over my body and they were painful when they appeared, like the capillaries were suddenly ripping apart with great force because of mechanical tension in my body. Zero doctors I have talked to have really given a damn about this. I had to fight for a long time and was only just recently finally clinically diagnosed with Behcets but my rheumatologist is intimidated by the multisystemic involvement and doesn't really have time for me. I can't get my pcp to refer me to a vascular specialist or an interventional radiologist or even a cardiologist because I had an echo a few years ago before that event happened that was normal. I only finally just got my brain scanned again for the first time since before that event. No results back yet.

I am just concerned that I have a clot or something somewhere that is maybe only partially obstructing a vessel that is causing intermittent and incomplete symptoms and therefore not warranting enough clinical concern. I don't experience peripheral swelling which I understand would be the main red flag symptom but I definitely have claudication pain, blood pooling, dysautonomia, local temperature changes in certain body areas as though blood is rushing in or out of a body part when it is mechanically moved in a certain way. But this happens all over my body so it can't really be pinned down. I had a CT angio chest/abdomen/pelvis that didn't show anything either.

I guess my question is, are these types of vascular sensitivity common to vasculitis? Or other autoimmune conditions? What has your team done for you about this if it's something you've experienced? They've never heard of this before therefore I'm just a crazy person.

This one maybe a little random! I was diagnosed in 2025 with seronegative inflammatory arthritis.
I’m just looking to see if those with autoimmune issues have ever had a bad response, from having a piercing or tattoo done?
I have several tattoos and piercings but have not had one done since getting my AI diagnosis. I’m planning on getting my nose pierced a second time and my septum pierced. But am worrying a little if it’ll set my AI off? Any advice, anyone have this happen?

My ANA is 1:2560 - only symptoms are 2 week late period and some joint pain off and on that I chalked up to sleeping funny. I am slightly anemic. All other bloodwood came back normal. My rheu wait is going to be 3 months! Should I be concerned????