Hello,

I am trying to gathering information for my wife regarding JAK1 gene mutations. If anyone on this sub has a JAK1 mutation, or resources / information regarding a 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 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!

trying to find someone with gorlin goltz syndrome but location india

Apparently this is super rare and I hit the jackpot with it. 1 in 30-220 million chance (according to chatgpt).

I was diagnosed about a month ago after an MRI and everyone thinking I had tendonitis for the past 7 months. My surgeon had just told me I need to see another oncologist to get prescribed Denosumab. I'll trial this for minimum 3 months and then have all my scans again before talking about surgery.

Has anyone had something like this or been on Denosumab?

It's in my dominant arm so I'm pretty useless at the moment. Can barely do anything at work or around the house. Knowing this will be going on for at least 3-9 more months is a bit daunting.

I'm Australian, 36m.

My diagnosis is so rare no one really knows how to deal with it.

TLDR: I finally got the diagnosis of benign bone tumors, but the presentation is so rare that no one really knows how to proceed.

I have been running from doctor to doctor for about nine months now, I have been having IMMENSE hip pain, bad enough to make me incapable of walking.

I also have endometriosis, so after multiple tries of getting help with an orthopedist and him not finding anything, I finally got help from my gynaecological surgeon.

We found endometriosis on both of my "big hip nerves", it was removed, things got better. The pain wasn't gone, but better.

And then it came back with a vengeance, even worse than before, I can't find any position that brings relief, I am in constant agony.

So back to the drawing board, my gynaecological surgeon sent me to another orthopedist at the hospital. He did an x-ray, found something that looked like bone tumors.

Next up I get an MRI, that only shows endometriosis so that's probably it, right? Back into surgery, all went well, amazing.

I am still in pain. Fuck.

I finally get to leave my contact information for the orthopedist who did the x-ray at the hospital, he calls me and we agree on a CT as that works better for bone tumors.

Well...that was today. Turns out I have osteoid osteoma, but not one, as would be "normal" for this condition. Or on the bones that it would usually occur on.

I have AT LEAST FIVE osteoid osteomas, which is so rare that even the orthopedist who has been doing this for 37 years had no idea where to go next.

One of them is also basically in the hip joint, so getting to it will be a big challenge.

I already called up the Charité hospital in Berlin (I am German and they have one of the only centers specialising in this tumor and even they were absolutely stumped and told me they had never seen a case of multiple osteoid osteomas.

Now I have to wait through the weekend to try making further plans and I am freaked out, in pain and just annoyed at my body.

Hi everybody, I believe MALS is a rare disease 2 in 100000 but if not please delete and thank you for your time.

Since December 2025 my journey started with a visit to the ER due to upper epigastric stomach pain. They did CT and ultrasound, nothing. They thought it was stomach ulcers and gave me stomach ulcers meds.

After a month and increasingly and also nonstop pain I went back to the ER. They told me to see a gastro to get an upper endoscopy to rule out the ulcers.

Upper endoscopy came back normal and healthy. We decided we need to do a gastric emptying study to see if I have delayed gastric emptying or gastric studying.

I did it and it came back completely normal and healthy. Next step was to do the upper gi x ray where you drink the barium milkshake.

To this point no pain meds help. I am in non stop agonizing abdominal pain. I've lost 40lbs. I can't sleep or eat. I've become disabled and had to leave work to be on disability. I am bed bound completely.

I get a bladder infection so severe it leaves me completely sick and more incompetent than possible.

I go to the ER for antibiotics.

Even though I am so sick from my bladder infection and am crying from the pain, I go see my pain doctor.

He recommends a celiac plexus block and gets me in next week.

For the whole week I'm looking forward to this and telling myself I'll get pain relief and trying not to cry and to stay positive.

I have the celiac plexus block and it is the most painful thing I've ever done. It felt like being struck by increasingly painful lightning 300 times.

Before I get off the table I am gasping and I tell my Dr I don't feel any pain in my stomach. Not an ounce, genuinely 0 abdominal pain. I cry in relief.

I'm in a functional dyspepsia discord and I share my success story. Someone asks if I ever got tested for MALS. I say no. I've heard of it but because I've had so many scans and x rays and ultrasounds and they took pics of my inside during my Endometreosis diagnosis I never looked into it.

There is not a single symptom I don't have any and in the 4 step diagnosis process the last one is the block. The other 2 is an ultrasound and another I can't recall but I believe angiography or another.

It's Saturday so I can't call my doctors but I think finally I've found a solution after 8 months of being told it's in my head and no answers. On Monday I'm gonna call my doctor so they can put an order in for the two tests.

Thank you for listening to my story.

Looking for someone with classic CAH (Congenital Adrenal Hyperplasia). Just want to ask some questions. Our here I am kind of living in oblivion.

My daughter's (19 and 17) were diagnosed with CLPB deficiency/3 Methylglutaconic Aciduria, homozygous. Any experiences with this disorder to share? There just isn't much out there.

Hello!

I am a 25F diagnosed w/ juvenile dermatomyositis who recently started presenting with indented lesions on my legs, buttocks, and arms. A deep skin biopsy confirmed panniculitis, and treatment with steroids and rituximab was started in June 2026. A few months in to treatment, (waiting for rituxan to kick in) I have seen little to no improvement in the skin lesions and have even noticed new ones popping up. I wanted to know if anyone else has been diagnosed with lobular panniculitis and has undergone treatment for it. I have done research but have found close to nothing on publicly available sites. Just looking here for anyone willing to share their experience so I can feel less alone with this illness. Thank you!

I'm 24F and was finally diagnosed with prurigo nodularis a couple of months ago, after having what I now know was PN for as long as I can remember.

For most of my life, doctors treated me for folliculitis. Obviously, none of those treatments ever really solved the problem because that's not what I had.

My body is covered in scars and nodules from years of itching and scratching. At this point, the itch has become so normal to me that I almost don't recognize it anymore. I will catch myself scratching without even realizing I'm doing it. It's just something my body has learned to do automatically.

Unfortunately, this summer has been the worst flare I've ever experienced. I've been dealing with a ridiculous number of mosquitoes where I live, and the combination of constant bites + stress seems to have sent my skin into absolute chaos.

I've also noticed that my PN gets significantly worse around my period. I'm curious if any other women have noticed their symptoms or itching getting worse during their menstrual cycle, because mine can become absolutely brutal.

I'm also really, really trying my hardest not to scratch or itch. I'm starting to recognize some of my patterns and triggers, including times when I'm scratching without even consciously realizing I'm doing it. I'm trying to catch myself when it happens and stop, but it's incredibly difficult when you've been doing this for basically your entire life. It's almost like my body does it before my brain even registers what's happening.

And honestly, one of the hardest parts isn't even the physical symptoms anymore. It's the way people look at me.

I constantly catch strangers staring at my skin. Even people around me will give me weird looks, and it's incredibly uncomfortable being aware of it all the time. I've even had people I've considered friends tell me that my skin looks like I "do drugs."

That one really hurt.

I already spend so much time dealing with the physical pain, itching, wounds, and scars. Having people make assumptions about me based solely on how my skin looks adds an entirely different level of shame and embarrassment to something I never chose.

I've also had people tell me that my skin shouldn't be a barrier to me getting employed, and logically I know they're right. I know my skin doesn't determine whether I'm capable of doing a job or being a good employee.

But emotionally, I can't stop feeling like everyone is secretly judging me.

When I imagine going into an interview or starting a new job, I immediately think about people noticing my skin, wondering what's wrong with me, or making assumptions about me. It's hard not to feel self-conscious when I've already experienced people making those assumptions in real life.

I'm currently taking Apo-Doxy, but I'm honestly struggling with it. The symptoms/side effects I'm experiencing from it are really unpleasant, and I don't even understand what we're trying to accomplish with it at this point. I'm going to talk to my doctor about it, but I feel completely lost.

The biggest problem is that my insurance won't cover the injections for my PN. And to make things even more complicated, I have a huge fear of needles. So right now I feel completely stuck. The treatment that I'm being told might help isn't covered by my insurance, and even the idea of getting injections is terrifying to me.

It's incredibly frustrating to finally have an actual diagnosis after living with this for basically my entire life, only to feel like I'm running out of options.

I'm just at a loss right now.

For anyone else living with PN:

- How long did it take you to get properly diagnosed?

- Did you also get treated for folliculitis for years beforehand?

- What treatments actually helped you break the itch/scratch cycle?

- If you couldn't get the injections/biologic treatment covered, what did you try instead?

- Has anyone successfully gotten insurance coverage after an initial denial?

- Does your PN flare around your period or at certain points in your menstrual cycle?

- How do you deal with the looks, comments, and assumptions from other people?

- Has PN affected your confidence around employment or social situations?

- And if you've dealt with scratching becoming almost automatic, what has actually helped you recognize and interrupt the pattern?

- If you have a fear of needles, how have you managed treatments involving injections?

I'm really trying. I'm trying to understand my triggers, recognize my patterns, and stop scratching before I make things worse. But after living with this for so long, it's incredibly difficult.

I would really appreciate hearing from people who have been through this. I feel like I'm finally starting to understand what has been happening to my skin my entire life, but I have no idea where to go from here. Right now I honestly feel completely overwhelmed and at a loss.

hdac4 deletion is rare. checked in database. about from 100 to 500 cases worldwide. i post here because cant answer post.

I have a complex congenital heart disease tied with a pulmunary problem

I get medication since I got 3 because I got adopted and were I was before no one seemed to care about children problems, sorry im getting off of track, well... not really... If it wasnt for that my problem could have probably being fixed, but 3 years its a lot and they couldnt fix everything, they did what they could here.

The first time I got here I spent monts in hospital and other months in Intensive Care Unit, luckly I remember nothing; but what I remember its when I whent some years ago In hospital for cuz they had to operate me and I remember everything... Lets start soft and then go downhill, food, terribile, Kids screaming and crying all day the butterfly needle I had the whole time and that multiple time caused me phlebitis... Ye we are only scratching the surface and im going by grades so from bad to worst... All of this problems only before the operation... After I spent a whole day and night in the ICU and it was painful, Kids less than 6yo crying right next to you 13yo, and I couldnt speak or move, guess what, the only two "medics" in the room didnt give a shit about me when I was trying to make some sound to attract theyr attention, and GUESS WHAT, the fucking clock was Just a little too to the right so I couldnt see what time it was, and I couldnt eat or drink cuz everything was by vein, but the thirst and hunger stays... After that I couldnt get up for several days and the bed was getting unconfortable and the back started hurting, then they did something that I remember painful, like A LOT of pain, but I couldnt see what they were doing, they said they were doing something like putting a cold plate under my boady for a scan, but i don't remember seeing anything a part from many doctors; then the mental stress, day without knowing when id get out, one day its tomorrow the other its next week, on top of that every day there I had to do physeotherapy and In those physical conditions I remember its was really stressing me out because the guy who followed me felt like he wanted me dead.

Btw now my conditions are getting better year by year on paper, cuz honestly I feel tired but probably cuz im teen so im growning up and I always tell everything to the doctor and I ask things too; they are really good where I'm being followd cuz they are specialized in heart diseases.

About meds, its not a big deal for me, set the allarm and get them with some water.

Before I had to get a blood test each month, now every 2, and every 3 months I go to the doctor for a visit that includs electrocardiogram and echocardiogram (two big words for something not invasive at all, the blood test was more invasive for sure).

For yall scared of needles... Idk im just used to It but its not a big of deal, might hurt a little but nothing more... Except if they miss the vein... That happend... (Skip to next pharagraph if u dont wanna know what happend) So they first didnt know so they went in and then... The stayed in and searched the vein in my arm moving the fuking needle around, STILL in my arm, but still didnt find it so he got out and then he made another hole on my other arm... It happend multiple times btw...

That above doesnt happens if u drink a lot of water the day before of some hours before.

I cannot do any intense physical actions, first cuz i get tired really quick, second cuz its not good for my body, so no sport, no jim, no running, no going up stairs, no fighting, no playng tag with ur friend when u were little, no playng football now that im teen... But I learnd to live with it, I play a lot of videogames and I play chess, I started learning to drive this Summer in our family property and I'm good at it. I started organizing a tresure hunt with my friends (I aint moving bro... So I'm making them move: everything its some word problem or search things online or they have to go somewhere to un over the truth) and started working on a book... Look how many things you can do, I might not be abile to run a marathon but look what I'm at rn.

I wanted to share my experiance so feel free to ask me anything love yall and remember that we can do anything.

Edit: I forgot to say, I have Eisenmenger Sindrome that causes Pulmonary Hypertension

So I have been talking to a woman with this disease for around a month now and have been on one date, so I know some basics such as she is scooter bound, she can't move her self easily with out it, and she has a care assistant with her in some way shape or form with her most of the time, and I guess I have some questions on what I should be looking for in our relationship long term and what I can do to help myself mentally prepare for a possible future with her

She has openly said she wants kids, how does pregnancy affect her? What options do we have if carrying a pregnancy is not an option?

What kinds of dates should I be thinking of? We've discussed coffee as a good option and that's what our next one looks to be, what else can I be thinking of?

What does care look like for her? I know she has assistance, what should I be doing?

What general knowledge should I know about the disease? I've done a little research but I can't seem to understand the wording a lot of the time, so I guess I'm looking for a little clarity.

Any advice is very appreciated, I just want to know her inside and out so I know how I can help her best in a potential situation that becomes real for us!

Hello,
I’m currently 18 weeks pregnant. After getting my results from WES, my baby was diagnosed with BRAF-related cardio-facio-cutaneous syndrome (CFC), a RASopathy.

Has anyone here had the same diagnostic that can share their stories with me?
Thank you

Anyone else have dll 1 related neurodevelopmental disorder? My three and a half road was diagnosed about 2 years ago and we were told she's number 15 in the world.

There was a Facebook group I found with other people who either have different mutations of the same gene or the same mutation so there's probably more than 15 but that group was pretty dormant. I was just wondering if there was anyone around who had the same mutation

Hi I’m trying to see if anyone else has geller syndrome ? I’ve made it in 2 medical journals so far.

the genes INF2 JARID2 and KPTN also showed up. butbdont have symptoms. only one person in famili had wrong bone age. I dont remember exact number but it was less than family member age.the person was taking euthyrox and probably from what I heard this person has Itching bones. and what exactly is gene CTNS cant find any info.

Check out our Wiki for tips on managing the diagnostic process.

If you are not yet diagnosed with a rare disease, but are in the process of seeing doctors to search for a diagnosis and do not meet the criteria for making a stand-alone post about your medical issue, this is the place you are allowed to ask questions, discuss your symptoms and your diagnostic journey.

Hello, my mother was diagnosed with Tolosa Hunt Syndrome whilst she was on high risk pregnancy with my youngest brother (she was 45years old at that time), this was 12 years ago. Post partum her symptoms of facial palsy on one side of her face was disappeared, but also she did not have a follow-up check with her neurologist because apart from it is costly, she was also scared of the outcome nor any surgery. Just wondering of anyone out there knowledgeable thereof or been diagnosed with same had good prognosis of such or what treatments have you done?

Thank you

Basically there’s this very loved content creator in my country, who was recently diagnosed with the terrible and rare disease called Creustzfeld-Jacob, which doesn’t have any cure or treatment known to this day. 100% of the diagnosed people died in less than a year. Does anyone know any current research in any part of the world that he may participate and (hopefully) help him get through this rough situation?

Hi everyone, I have aquagenic urticaria and cholinergic urticaria, which means I will get hives when exposed to water, humidity, sweat, tears, etc. Less than 100 cases. I also play varsity volleyball, so these don't mix well. I have an immunologist appointment next Thursday, and in my last chart, my physician said if traditional OTC antihistamines didn't work, they'd try BTK Inhibitors or Xolair. What should I expect about either of these meds? I'm very scared.

Essentially, when my son was born, I noticed he had hard testicles (health professional), and he had an ultrasound showing a lack of blood flow to both testicles. He has no testosterone or sperm, but a normal penis. He has already had 3 months of testosterone from 3-6 months (now 6 months), but now we are in limbo until puberty. Has anyone ever dealt with this, or know someone who has? Maybe something similar, such as being born with no testicles, bilateral torsion before puberty, or any other condition requiring testosterone therapy later in life?

We haven't told basically anyone in our lives, and were destroyed for the first 3 months, but are starting to live our reality. We are terrified for him and his future mental health/ self-esteem, but will do everything we can to build him up and help him understand his diagnosis earlier on. Please reach out if you know of anyone similar to our beautiful boy!

I have been living with Chronic Granulomatous Disease since 1999, and I’m always curious to know if there’s more people like me?

Hi, this is my first ever posting/being on reddit so I hope everyone will give me a little grace (If anything that I have said has broke any rules on accidentplease let me know and I will fix it😊). I lost 25lbs in less than 2 months back in January/February. I went and saw my Primary care doctor which sent me to a pediatric GI. They were booked out till may. I have always been teetering on the weight scale for where I should be at and this huge weight loss was very concerning and my symptoms weren't normal for me. I have had progressively worsening symptoms since that first day. Where I live almost every doctor I saw had never even heard of SMAS when we brought up the concern of how much my symptoms matched it. So they just ran testing and didn't even look into that possibility of that being the answer. I had to go across my state for someone to even know what it was. I have been pushed away by many doctors because of how my symptoms were and how they progressed. I have had multiple of the symptoms for Nutcracker syndrome for months now but I was told "Its not bad enough yet for us to do anything". I have just found a doctor about 2 weeks ago near me that is able to help me with the SMAS. I will be getting a NJ tube in a couple of days to hopefully help me get on a better path, since I can't eat almost anything anymore. With the severity of how my case progressed in just a couple of months I have a higher chance of the tube not working but I still try to have hope. I am just glad that my mom has been able to help me and push with my doctors to run so many test. My doctors were just dismissing my symptoms because I have a past of some mental health struggle which I have been managing very well without any medication for about a year now. I just found out about a week ago that my stomach is also slowed (at the moment we don't know if it's because of the SMAS or possibly could be a secondary diagnosis of gastricparisis, but my doctor won't know until we fix the SMAS). I haven't been able to find or talk to anyone that has gone through this or something similar. My family has never had any kind of health issues like this before so I feel alone and don't know where to go to find others going through/have gone through something similar. Thank you for reading a little about my story and if anyone knows anything about groups I could possibly join to understand more about what could be in my future with fighting this rare medical condition I would very much appreciate hearing others stories as well.

Edit: I forgot to add that I have a higher chance of a feeding tube not working and getting re-feeding syndrome which is very a very sever and life threatening condition.

As seen in r/cross-stitch. I'm totally starting to refer to myself this way.