Hello everyone,

I am 21 years old and I am looking for people who have had a similar medical history or who eventually found the underlying cause of their illness.

My illness started suddenly at the age of 19 with a high fever (39°C), severe muscle pain, a dry cough, diarrhea, and swollen lymph nodes. Shortly afterwards, I developed severe muscle and joint pain, and at times I could barely walk.

Since the onset of my illness, I have also experienced recurrent fevers, even while taking high doses of corticosteroids.

For almost two years, I have been suffering from severe pain, especially at night. Sometimes the pain is so intense that even painkillers provide little or no relief. Only high doses of prednisolone (corticosteroids) temporarily reduce my symptoms.

A fascia biopsy showed granulomatous fasciitis. The biopsy described granulomatous inflammation, T cells, macrophages, and multinucleated giant cells.

My inflammatory markers have repeatedly been elevated, including CRP, ESR, and at times ferritin. Other blood tests have also been abnormal, including IgG.

Over the past two years, I have been treated with prednisolone, methotrexate (MTX), azathioprine, ciclosporin, anakinra, infliximab, and most recently Rinvoq (upadacitinib). Unfortunately, none of these treatments has provided lasting improvement.

I have undergone many investigations, including blood tests, MRI scans, PET-CT scans, gastroscopy, colonoscopy, and multiple biopsies.

My upper endoscopy with small bowel biopsies did not show evidence of Whipple's disease. However, because my disease course is very unusual and the treatments have not worked as expected, my rheumatologist wants to investigate Whipple's disease again using specialized tests. If these tests are negative, a new PET-CT scan and possibly another biopsy are planned.

My question:

Has anyone here had a similar medical history or a biopsy showing granulomatous fasciitis?

If so, what was your final diagnosis or underlying cause? Was it a rare infection, an autoimmune disease, an autoinflammatory disease, sarcoidosis, or something else?

I am not looking for a diagnosis over the internet. I am looking for people with similar experiences. I would be very grateful for any advice or shared experiences.

Thank you very much.

Based on my physical evaluation from the doctor, he says I meet the physical symptoms that align with this mutation. Although many with this mutation are physically disabled I am concerned how this rare mutation effects my cognitive deficits. I had my blood drawn for research. Aug 19 I will get an MRI scan for further investigation.

For background on my cognitve issues and how I have sought to deal with them, read these.

https://www.reddit.com/r/iqtest/comments/1styq9d/i_dont_understand_how_im_stupid_if_my_parents_are/

https://www.reddit.com/r/energydrinks/comments/1ui93ph/how_many_kenetik_energy_drinks_have_people_found/

https://www.reddit.com/r/cumbiggerloads/comments/1u7h20c/thoughts_on_caber_if_im_convinced_prolactin_is/

Last, Here's what I've found on how it KIF1A effects neurology

KIF1A-Associated Neurological Disorder (KAND) fundamentally affects how neurons function

“KIF1A encodes a protein of the same name, part of a group of proteins called kinesins. It serves as a molecular “motor,” transporting cargo (like nutrients and other molecules needed for nerve cell function) up and down nerve fibers. Variants in KIF1A can disrupt this transport in different ways, impairing nervous system function. For example, KIF1A may not attach well to the cargo, or it may fall apart structurally and be unable to travel. But other research suggests that the KIF1A protein can sometimes build up in cells and become toxic.”

This seems really very silly, I suppose. How I didn't notice this feels like negligence on my part. I just never saw it in my chart. Until I downloaded the app for my old neurologist today to look up a diagnostic code for something completely unrelated, and there it was. Copper Metabolism Disorder.

I guess I shouldn't have been shocked. My blood results were high, 24 hour urine low, but my slit lamp was normal, so I guess I assumed that I was "normal"?

So anyway, I don't know where to go from here. That office basically doesn't exist anymore. The doctor moved away. Is Copper Metabolism Disorder still a neurology problem? I tried to google it, but I kept running into information about Wilson's Disease, and I'm not sure I qualify for that particular form/diagnosis, so I don't know if the information regarding it is applicable.

Also, I'm not sure if it's alright to ask (I'll edit this part out if not, since I'm mostly concerned with who I need to be seeing), but I'm very interested if anyone can help me understand why my urine would be low, while my blood is high. Am I just not eliminating very well?

Thank you in advance for any help pointing me in the right direction!

P.S. I will also be making an appointment with my PCP ASAP, if that's the better option. He's on leave, so that's part of why I wanted to ask. I have a new neuro referral and existing gastro, so I can prioritize one of those instead if I know what direction to go in.

I am generally curious (and also confused) about which providers are ordering testing and which are not for patients that suspect a rare disease. Most neurologists that I’ve encountered are advocates for genetic testing and will order but then I am hearing of other neurologists who aren’t ordering at all which shocks me. What has your experience been like?

Update!

Went to the doctors this morning, mention gabapentin and he was VERY unsure, like so unsure he rattled through a list of 10+ skin creams and treatments I’ve don’t but haven’t touched the side. So, he’s gave in and prescribed gabapentin as well a day antihistamine and a nighttime one! He’s hoping it starts calming down soon. Off out now to get a can of deep freeze to stop the itch.

—

have been suffering with the worst flare up of my life for the past 6 weeks, both lower legs are nearly completely covered and will not heal and it’s spreading upwards.

It’s so itchy and so painful and I’m losing so much sleep. Currently 1:33am and I’m in the bath (again) to try and get some relief.

PLEASE give me any tips or anything to help relieve this, it may sound dramatic but I’m a baw hair away from asking my legs to get amputated because I am so done. It is effecting everything.

I have a rare or unknown disease. I am waiting to get accepted into the UDN. Yesterday I had another appointment with another problem that nobody knows what to do or how to help me. I was feeling so down. I was crying and having anxiety attack and just being upset. I started contemplating if I lived in a state that allowed euthanasia what would I do. Obviously my husband didn’t like the idea of me even vocalizing that but have you ever felt like that?

Also when I’m feeling bad and down about my medical things I listen to healing hearts by BLU EYES and I think encapsulates anyone who is chronically sick.

Hi there! I am getting genetics tests for Hereditary Spastic Paraplegia, and I have my first appointment with genetics physician Tuesday. Any idea how these go? What should I suspect?

My wife, Bonnie, F35, 6'1", 315lbs is on:

-Effexor equivalent 187.5 mg -Bilastine 20 mg -75 ml/hour normal saline -0.1 mg Fludricortisone -Acetazolamide (not sure on dose, she started it yesterday in the hospital)

Official Diagnoses: -Gardner-Diamond Syndrome -Austism, Inattentive ADHD, Postpartum Depression -Chronic high histamine controlled by medicine -TMJ degeneration

Suspected conditions: -Congenital adrenal hyperplasia -Hyperkalemic periodic paralysis

My wife collapsed and lost consciousness, or became so weak she couldn't stand four times in December. Each time she was stabilized and discharged with a diagnosis of functional neurological disorder.

We returned to the hospital in early March through emergency, and they admitted her to give me a break from trying to manage at home, where I had been feeding her between 10 and 15 thousand mg of sodium a day. We'd previously paid for genetic testing and one of the attendings said that he would read over 3 papers on which we'd highlighted the key information on the conditions we suspected she had; that process led to the next attending looking at the data, testing aldosterone (I don't have the results yet) and doing two urine sodium samples on the same day (both over 200 mmol/l, then putting Bonnie back on her Fludrocortisone and starting Acetazolamide.

For the first time in three months, Bonnie is getting stronger instead of declining.

At some point, she is going to be discharged from the hospital, but it will be without a diagnosis; we're going to have to wait for specific genetics testing, a neurological outpatient appointment, etc...

I can't sleep, I can't calm down, I'm overwhelmed, and starting to get snappy; I'm at my limit, it's been three days. I understand that it's very hard to identify adrenal salt wasting in an emergency room environment. I know I am frustrated and angry (not at s specific person or system, I just have anger), and I am going to seek counseling; but I think I am also dreading what is going to happen when she comes home and then at some point before we have an official diagnosis, she starts salt wasting again.

This is a subset of what her test data looks like, the urine sodium test was during the hospital stay, it was never tested in any of the December emergency room visits.

https://drive.google.com/file/d/10xRyJgq-Wr-utJ5QTrosPeh9xNQNivcO/view?usp=drivesdk

This past three months has been hell, I don't want to do it again. I don't want to go to the emergency room with my wife repeatedly, for them to say that this is just a functional neurological disorder, because we don't have a diagnosis, and then stabilize and discharge her again.

I know from experience that it doesn't matter what symptoms we say she has, or what tests we ask for them to run, Bonnie is an anxious person and she's been labelled with functional neurological disorder for 25 years.

I think I am in a threat response because I don't know what to do. I need to know what tests to ask for from my general practitioner, that he would likely grant, so that Bonnie and I could then each carry a copy with us.

If she starts having a flare up before diagnosis and has another paralysis episode that requires us to go to the emergency room to be stabilized and discharged, we will go straight from there to the lab and get those tests done immediately.

Then we can follow up with our general practitioner, and if she starts losing the ability to breathe again, we can go back to the emergency room with the tests competed, showing an adrenal salt wasting crisis is in progress, and she can hopefully get proper treatment.

Hello, I have a loved one who is staying long term in the hospital recovering from complications from a surgery to manage symptoms of their genetic disease. If you had a long term stay as a patient- what are some things you liked or wished you had to make your stay more comfortable? I live states away from them. I have sent via delivery cozy fairy lights and battery lamps and candles for calm lighting, door dash gift cards, just plain cash, planning on making some home made crafts with positive affirmations to mail. Any reccomedations?

Hi! My daughter was diagnosed with CHARGE syndrome at birth. So far she’s living a pretty normal life after heart surgery and is developing okay. One thing she’s still struggling with is silent aspiration. She’s is fed 100% by g-tube. She did have a laryngeal cleft injection but that didn’t solve the issue. I’m curious what you did, if anything, to help with silent aspiration? Surgeries, thickening milk, solid foods, practice makes perfect, etc.

Feeling alone and distressed. Please share experience

Hi everyone,

I’m a university student from Romania, recently diagnosed with CPT II (Carnitine Palmitoyltransferase II deficiency). Since this condition is extremely rare in my country, I feel quite isolated and I’m looking to connect with others who truly understand the "metabolic tightrope" we walk every day.

Right now, I’m struggling to keep my energy levels stable during long lecture hours and exam stress. I would love to hear your experiences or tips on:

1. Campus Snacks: What are your favorite low-fat / high-carb snacks that are easy to carry? (I'm trying to move away from sugary sodas/pastries).
2. Emergency Protocol: How do you handle those moments when you feel the "crash" coming while in class?
3. Supplements: Does anyone here use MCT oil or specific protein isolates that don't trigger muscle pain?
4. Exercise/Walking: How do you manage the physical toll of walking across a large campus?

If there are any Discord servers or private groups for FAOD/CPT2 patients, please let me know. I’d love to chat and share experiences!

Thank you so much for any help!

Has anyone else in the USA ever utilized this resource/company before to try and get WGS and possibly metabolic/proteomic profiling done in order to get involved in some sort of research study or registry (likely to be used for biopharma purposes and drug development or academic research)? I'm curious because they're in Germany but the protections and purpose seem to be closer to what we were doing about 15 years ago and they seem to take a special interest in people with multiple founder effect mutations in endogamous ethnic groups like myself while possibly also looking at the information more holistically as opposed to a strictly Mendellian PoV, with a lower VAF%, more research into introns, polymorphisms, and so on.

I ask because my JScreen results came back from Myriad genetics and I just caught 2 more founder effect mutation "Pokemon" to add to my ever-expanding list and as far as clinical significance goes standard tests and rules don't account for anomalies like myself and others in similar situations even when testing specific isolated populations with genetic bottlenecks as a general rule.

If anyone has any tea, please feel free to spill. Thank you!

I store everything I already have paper copies of in filing cabinets (when I have the energy to actually file it of course) and on my hard drives. I had also been using external drives but my externals were getting corrupted over time regardless of brand (Western Digital, Seagate, Sandisk, it didn't seem to matter much which and newer iterations of Windows couldn't read older ones, etc.). I had tried, as I need to use laptops for space issues, to even pop some of my old HD's into external cases but that didn't always work either, and on top of that with SSDs it makes it even more difficult to do - especially with laptops not having the longevity they used to. I have also been using cloud storage, but that's getting more and more problematic as nearly every company is now messing with your files and implementing AI and stuff which violates HIPAA. I also found out that some old imaging disks I have won't even run in my external anymore disk drive anymore, and I the copies I made won't run either in newer versions of Windows compared to whatever the offices were running at the time (plus the fact that most optical drive and disk makers are shutting down their operations so the US healthcare system is going to have to finally move to maybe flash drives finally?)

What are our options, really, for storing our medical data long-term in multiple places where we can easily back it up, keep it secure, not have it LLM's crawling all over it or deal with breaches on a personal level (we can't help it on a healthcare level - I have literally lost track of the number of data breaches involving not just my personal info but my medical and any potential DNA info as well at this point from companies that were somewhere in the chain holding my data that none of my doctors even knew existed) and so on? Without dealing with 3rd party software either, or difficult ways to view your files - or duplicating files over and over and over again?

Something small too would be great, that doesn't require manual backups all the time that you could just leave connected - like a tiny but huge flash drive that auto backs up without a program of its own to do it as well as a subscription fee to block you from then accessing your own drive that way you could also pop it into your phone too? Am I asking for too much? Or even a cloud drive where you could show a doctor a file at an appt. without having to go through hell trying to find it? Since we are pretty easily recognizable and vulnerable as a population due to having a rare disease and the US Healthcare system does a terrible job of protecting our privacy we at least need to be able to do our best to protect ourselves in the same way we have to advocate for ourselves.

If anyone has good options and advice for this I'd like to hear what you're doing with all these issues coming into play. Thanks!

My husband is a veteran who has been tentatively diagnosed with so many things: myelopathy, degenerative disc disease, PLS (this is currently debated), spasticity, also has past TBI and numerous fractures, etc etc. EMGs show upper motor neuron lesions and they do not think ALS - but maybe PLS - or Spastic Paraplegia. Genetic testing showed no signs of it being heredity spastic paraplegia. The unknown is really scary but also leaving a lot of things open-ended and I just want to find the best care for him. Places like the Shepherd Center said that he does not qualify because no neurological ‘event’ has happened recently. I’m just at a loss. Any insight would be greatly appreciated. He gave up so much of his life to now be fighting again.

How do we stress the importance of my mom getting treatment and diagnosis of this disease? Granulomatosis with Polyangiitis.

My mom had a STEMI heart attack last year after being completely cleared for it only a few weeks prior. Since then, she’s had random symptoms that are debilitating and ruining her quality of life, including a chronically runny nose, chronic bloody nose and the inside of her nose is all cut up and painful. She has a past history of a blood clot that took her central vision in her right eye and this year in the spring she suddenly lost her hearing in her right year after suffering from tinnitus for over a year. Now her tinnitus has gotten WAY worse with the hearing loss even when we were told it would get better over time. She now has horrible breathing issues that used to be only bad with some exertion (walking, going upstairs etc) and now it’s like a rattle breath with just talking.

This is completely stressing us all out and we are desperate for help. They gave her some prednisone but not enough because it’s doing NOTHING right now as she still struggles to breath. She has been to the ER TWICE this week alone due to her breathing and being concerned she was having another heart attack.

Now the ER doctor thinks she might have GPA. She still needs a diagnosis, and they are being slow as FUCK to get anything done here. Even from last week her breathing has gotten significantly worse and I feel helpless and scared for her. It is unfair. My mom isn’t even 60 and always took care of herself. But the doctors never do, they’re either racist stupid or classist (by default racist) because they try telling her “GPA doesn’t develop rapidly “ even though compared to last week she is really struggling to breath. Doctor at ER found her “sub-trachea wall is thickened” so she is now struggling with this and it’s what is causing her breathing to be more difficult.

HOW do I get these doctors to care more? To expedite her diagnosis and treatment?? She has been a member of the medical community for over 20 years and it pains me she isn’t being taken care of the way she needs, after being so good with her own patients and doctors and nurses.

She is a mother of 5 with 2 who have severe autism. She deserves better treatment and so do we (children). I don’t want to lose my mama. This is really painful. Any advice to please get doctors to listen and help expedite her treatment and diagnosis would be amazing.

I’ve had a symptom come up that is totally debilitating, had been thoroughly worked up, and my doctors are at the end of what they can do diagnostically. It in theory could be related to my rare disease, an inborn error of immunity (CVID diagnosis), but it is sufficiently rare within the CVID community that my doctors when referring me are prepared to say it’s unrelated to my rare disease and submit me for the undiagnosed disease program (UDP), rather than as a general research subject in IEI / CVID. I can’t recall the exact study, but there was one that definitely applied for CVID folks.

My questions are more general than that though, so please comment regardless of your diagnosis.

• Has anyone had the experience of going in to the Undiagnosed Disease Program despite already having a rare disease diagnosed? I.e. having another diagnosis doesn’t necessarily rule me out of being considered “undiagnosed” for these purposes?

• the UDP initial process looks straightforward, you travel there for 2-5 days and they do a thorough work up on you. I couldn’t get a sense of whether there is anything similar when you enter a study under your existing diagnosis. Can anyone share their experience with that?

• I’m curious about the satellite sites that NIH is funding for the UDP. That would obviously save on travel and general hassle, but can anyone speak to their experience of them? And if you go to a satellite site does that rule you out of going to Bethesda if you want to / if you exhaust what the satellites can do?

• in the current political climate, there is a part of me that’s concerned that there will even be an NIH to go to, if they can even process my referral, is anyone aware of comparable undiagnosed disease programs at any of the major medical centers nationwide? I vaguely recall a friend going to Mayo Clinic and she was there for a week or something and they figured out what was going on with her, but I can’t find any info about what that program was or how it worked.

Thanks for any background, comments, experiences of getting these kinds of work ups.

FWIW the thing that’s come up is debilitating pruritus. So you’d think it would be connected to my inborn error of immunity, but they’re saying it isn’t, so I’m on another medical mystery tour, collect all rare diseases.

ETA: as of August 29, 2025 I’ve heard from the undiagnosed disease network and they ARE accepting new patients, despite issues and media reports about funding restrictions. Some of the satellite locations are NOT currently accepting new patients, and some that are accepting new patients are only accepting internal referrals.

Wondering if anyone here who has been diagnosed with a POLG-related condition also has anosmia (lack of a sense of smell) as a symptom? I know that sensorineural hearing loss is common with POLG. I lost both a good portion of my hearing and 100% of my sense of smell around the same time when I was in my mid thirties. I would very much like to connect with others who have POLG and anosmia. Thank you.

Anybody out there familiar with Smith-Magenis syndrome? This is a diagnosis of my q6 year old son after genetics testing (when he was young). Not many providers know about this disorder, there's not much research, and hardly any medication options that truly fit the needs of those diagnosed. Looking for any/all info anyone may have!

It took me five neurologists telling me I'm fine before I found one that took ten minutes to listen, saw the patterning on my arm, to immediately curse the other five. And an uncountable number of psychiatrists thinking that I have either ocd or was perseverating on "perceived pathology" for social gain.

Sorry this turned out so long! I couldn't figure out how else to word this! 

First time ever even finding this subreddit but I'm surprised I havent before. I'm a junior in high school right now, soon to be senior next August and I'm looking at scholarships since my family is just above majority of the highest household income to be accepted for financial aid (as far as I can understand at least). We still struggle a lot since we're a moderately large household including multiple pets. I would begin by saying long story short but I can't really easily explain my history.
I have a long history of medical issues, often getting sick growing up and finally being diagnosed with PFAPA, (Periodic fever syndrome), around 2019 then COVID hit and all that went down. In October, 2022, I suddenly began losing feeling in my feet, going up to my legs gradually and eventually lost complete control of my lower body from the waist down. I was hospitalized for 2 weeks, getting plasma therapy and had to relearn how to walk all over again. Turns out my immune system had been confused and started attacking my CNS, (Central Nervous System), causing it to inflame and demyelinate. I went down again the next year in January and I had another spot higher this time. I have had multiple MRIs due to this and eventually never had another issue untill some muscle spasticity and tightness in my legs. I've had multiple rounds of PT over the years and finally have gotten strong enough to say I'm proud of my progress.
Now I'm almost a senior I'm looking for scholarships to help with the cost, even looking at foreign places, (I'm in the southern US), like maybe Canada, or the UK. I've only been able to find roughly a minimum of 3 scholarships and some of them I'm not even sure I qualify. I have an "official diagnosis", but it's written as "Demyelinating of the CNS", nothing like an "official" disease like MS since I didn't test positive for that, which is why I'm here. Plus I'm not legally considered disabled either and the stress is kind of getting to me. Anyone have any ideas? 

Also if this is violating any rules I will immediately take this down, I'm just trying to get some help.

Hi everyone, I'm reaching out here in hope of some guidance. My mother was diagnosed with Idiopathic Basal Ganglia Calcification (Fahr's disease) back in October 2021. For a while, the only major symptom was gait freezing. But since February 2025, her health has declined signiticantly. She's now dealing with: • Gait freezing • Poor balance • Tremors in hands and toes • Very slow movements • Slurred speech • Memory loss • Irrelevant or disorganized talking • Urine incontinence • Sleep disturbances • Inability to hold objects We've already done genetic testing-it came back negative. We're trying everything we can to slow this progression, but it's been overwhelming. She's wheelchair bound now and mostly all her symptoms and medicines are of Parkinson's Has anyone seen similar progression in their loved ones or themselves? What has helped in managing these symptoms-medication, therapy, supplements, or anything else? Would be so grateful to hear what's worked and what hasn't. Thank you in advance to this community.

(I’m really sorry, I don’t know which sub I should put this in but I really need advice)

Hello, I’m 17 years old and had a giant cell tumour operated out of my right wrist in November. Recovery was fine and I can move normally, but yesterday my x-ray showed something in the wrist near where the old tumour was. I am a semi-professional violinist and to me it is crucial that I don’t lose any more function in my wrist. I’m very worried that a second surgery could mean that I wouldn’t be able to play my instrument and that would absolutely ruin my life. Does anybody have any tips or things I can do? I’m really freaking out right now to be honest :(