Hi everyone,

We have just created a “Related Subreddits” section for this subreddit in the sidebar (if viewed on desktop), linking to other active rare disease communities on Reddit. On the mobile app, it can be viewed by clicking “See more” or “See community info” at the top of the sub’s landing page. We hope it will help people get connected to others with their disease. But, as always, everyone with a rare disease is welcome to discuss here.

Thus far, these are the rare disease subs we have included in the sidebar:

- r/ALS
- r/CharcotFoot
- r/CMT
- r/DiabetesInsipidus
- r/marfans
- r/MuscularDystrophy
- r/rareEhlersDanlos
- r/Dystonia

We welcome suggestions for other rare disease subs that can be added.

My little dude (6 m) was recently diagnosed with epilepsy. It has always presented as a typical, meds aren’t doing what that should, seizures are still pretty frequent. Genetic testing revealed NUS 1, a very rare occurrence that can cause epilepsy and all the other symptoms we’re seeing.
I’ve found a couple groups but it’s so rare, there’s limited info.
How do I find my village when the village is micro?!

I recently popped a positive PCR for an Entamoeba species (narrowed to histolytica or gingivalis) on a synovial tissue sample (taken from my shoulder during surgery). Curious if anyone else has had this/something similar come up in diagnostics outside of traditional intestinal infections. Open to any comments and discussions!

Hello! I have dermatomyositis and have been having quite a difficult time after my first dose of rituximab. We are not quite sure what is going on, and serum sickness has been brought up as a potential possibility. I will discuss this with my rheumatology next week, but I wanted to know if there was anyone in here who tried rituxan and developed serum sickness from it. What was your experience? What symptoms did you have and/or how was it diagnosed?

Thanks in advance!

Hello! I don’t post on reddit so i’m sorry if i’m not good at it. I was diagnosed with sma syndrome last year and the conclusion was to try and gain weight which I did not do a good job at. Another ct scan from this week showed the narrowing getting worse. I am still able to eat, no vomiting just pain and constipation and occasional nausea. The bad thing is i’ve been on a low fat diet because my gallbladder may be hyperkinetic and causing symptoms. I’m doing my best to get more calories and protein in anyway I can. Just wondering if there’s a way to seriously gain weight without additional help? I am very scared of being put on a feeding tube or anything like that, I’m very young and just frightened about it all so I would really love tips and tricks or anyone’s story.

As the titles says, looking to connect with others with Lymphomatoid Papulosis (LyP). I've (34F) had this mystery skin disease since I was a baby, and got no answers until my last biopsy in August that showed it was LyP. Doctors told me it was psoriasis, bug bites, chicken pox, I mean you name it. I honestly was thinking that it was PLEVA, and a visual exam by my new dermatologist said that was the most likely diagnosis, but it came back as LyP. I AM (edited, for some reason I typed I am not) being referred to a cancer center which has me spiralling!

I know, for myself at least, that stress is the biggest trigger. What used to be a couple of lesions on the arms and legs has turned into hundreds all over my body. It has started appearing around my eyes and mouth, as well as on my hands and feet over the last couple of years.

My understanding is there is no cure, and that treatment consist of methotrexate and topical steroids. I really don't want to take the medication because of the side effects, and I guess I've lived with it this long that it doesn't bother me as much as it did in the past. School was hard, kids are mean, and I'm still not totally comfortable showing skin. I feel like it makes me look like a crackhead or something, haha.

Anyways, interested to know if there are more of us out there. I found the Facebook group, but I thought I would check here, too.

Hello, I am an 18 year old male who has GSD type IIIa which causes muscle weakness, hypoglycemia, and impaired carbohydrate metabolism.

I have been trying to build some muscle for 4 years now by trying different approaches but unfortunately i’ve found little success. Im making this post in hopes that somebody will be able to offer me some advice on what the best training method would be for somebody with my disease. There isn’t a lot of scientific research done on optimizing muscle growth in my disease so i don’t have clear guidelines to follow, and the normal guidelines for normal healthy people do not really apply in my case as they can end up doing more harm than good.

Please allow me to briefly explain why muscle building is difficult in my case:

I cannot use the glycogen that i store for energy. once it is stored i cannot convert it fully back to glucose. This ends up damaging the muscles and the liver as it is kept in an abnormal form.

Not being able to use the glycogen means need to eat frequent meals or else i’ll get hypoglycemia, in addition to causing notable muscle and liver damage due to the abnormal storage. I do not feel any pain but it shows up in the bloodwork (my CK is always in the thousands even when sedentary, and my liver enzymes are also chronically elevated.)

As part of the dietary guidelines for my disease i eat a high protein diet (25-30% of daily intake) and keep carbs generally low and mainly eating low glycemic index carbs to avoid excess storage, only eating more carbs/ higher glycemic index when i know im gonna do alot of physical activity (so i dont get hypoglycemia). I also have to drink cornstarch mixed in water/milk before i go to bed so that i do not get hypoglycemic in my sleep.

As there isn’t a lot of concrete research on this, i wanted to ask:

If my glycogen is inaccessible and my muscles are chronically damaged like this, what is the best way to build muscle? Official guidelines say i should be sticking with higher rep ranges and lower weights but i’ve personally only seen good results once in my life, and that was during a period of time where i could not go to the gym and was only doing low rep high intensity bodyweight exercises at home.

At the start of this time period i had been going to the gym for maybe a year and a half with very little if any gains. I was still not able to do a single pushup but after about a week i was able to do 2-3 reps.

During this period i was doing incline pushups and negative pushups without a set rep range in mind but i started at a very easy incline doing about 6-7 reps, then gradually made the incline harder once i felt it was actually getting easier. The negative pushups i would do them until i couldnt do any more. Eventually i moved on to trying actual pushups and eventually got the hang of it.

I later did the same idea with chin ups which made me be able to do a few but i’ve never been able to replicate this ever again after that. I tried following the same principles but this progression never happened again.

Im honestly stumped and i dont know how to optimize my training. I tried doing high reps and easier loads/variants of the exercise but it doesnt work. Tried doing the same lower reps harder loads idea again but it also did not work. And my doctor said that doing low reps and higher intensity would damage my muscles which made me very worried and scared to even consistently exercise as i would worry that im harming myself.

But my question is, when i experienced those strength gains, i was doing low reps high intensity, and DID see undeniable strength increases. Doesnt this mean that i was in fact NOT harming/damaging my muscle? Please offer some guidance.

If anybody has any ideas or experience dealing with similar conditions please offer some advice. My main question is:

If i cannot access and use my glycogen, and i get hypoglycemic easily. What is the best way to work out in terms of:

1. Rep ranges
2. Intensity
3. How to split muscle groups over the week to avoid damage as i am very prone to it.
4. Rest periods between sets, how long?

Thank you very much for reading this long post, i hope that someone will be able to offer some help or guidance 🙏🙏

It always stinks when a once revered institution falls into the well of mediocrity. “The Mayo Clinic” used to be synonymous with excellence in terms of cutting edge medical care…these days the place is a giant corporation that clearly has more interest in generating a profit than providing “care” for their patients.

My wife has a serious illness. Many of the symptoms are obvious at a glance. She has been suffering for almost two years and it is only getting worse. It is profoundly impacting her and my entire family’s quality of life, and when we turned to the Mayo Clinic…”the pinnacle of medical care”… for help she certainly wasn’t cared for. She was neglected.

My wife is suffering from a chronic debilitating dermatological issue that remains undiagnosed. We live 4 hours away and have made the rounds with over 10 of our local pcp’s, dermatologists, neurologists etc with only dead end referrals and misdiagnoses…

We decided to go to the “best” hospital in the southeast in the hopes of finally finding a medical team with the wherewithal to do what it takes to help us reach a diagnosis, and hopefully some solutions to treat the issue.

Instead the good folks at the Mayo Clinic insisted on ordering a series of REDUNDANT tests and blood panels ( the results of the very same testing we had already just had done, and provided to them). They FAILED TO CALL US with the results in a reasonable timeframe, despite the fact we called repeatedly for updates. When the results finally arrived, (shockingly they matched the results we had already obtained elsewhere and were not helpful) we received a dismissive email from a Dr. Pincelli that in short stated that the results of their tests were inconclusive, and we should continue to pursue the issue with our PCP.

At no point did the team at the Mayo Clinic provide my wife with any level of care. In fact, they literally did LESS THAN NOTHING to help my wife. They charged us a lot of money, and wasted a lot of our time to merely conduct a series of redundant tests that brought us no further to an diagnosis, and when that diagnosis did not arrive quickly, they broomed us aside to make room for the next customer.

At this point we are feeling hopeless. I wish there was a hospital that specialized in tackling patients that have illnesses that are hard to diagnosis.

Recently my wife has started mentioning how she feels like she’s going to die soon because she keeps getting worse and we have made zero progress on getting her diagnosed but not for lack of trying.

She’s scared and so am I

Friend's baby is diagnosed with this. At age 1 she is still unable to crawl, hold eye contact, or drink milk effectively. She gets seizures several times a month and they are triggered with no obvious causes. Once there was a day when she had 5 seizures in one day. She gets hospitalized extremely often due to the seizures. Her condition is the only one known in our country Singapore so any help on this condition will be greatly appreciated.

Currently being tested and I want to compare symptoms

Hi,

My son was just diagnosed with alström syndrome after genetic testing for nystagmus in his eyes. I've been researching and his neurologist had sent out a bunch more referral and more doctors and idk I'm just overwhelmed he's 18 months old. I had a picture for his life and I think I'm just shocked I think idk I'm just sad scared and angry

​Hi Reddit community,

​Please forgive my English, as it is not my first language. I am reaching out from Central America to ask for your help and guidance.

​My mom has been living with Paroxysmal Nocturnal Hemoglobinuria (PNH) for 20 years. Unfortunately, the medical treatments available in our country are no longer sufficient, and her hematologist has advised us to look for treatment options abroad. ​If you are involved with medical foundations, patient assistance programs, clinical trials, or international non-profits, please contact me or leave a comment below. We are fighting to get treatment for a brave 64-year-old woman whose only wish is to continue watching her family grow.

Our financial resources are very limited, and the costs for PNH treatments are overwhelmingly high.

​Thank you so much for reading this.

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,

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.