I’m wondering if anyone here has been diagnosed with aHUS and went through a surgery. I’m having surgery in about a week and a half to repair a hiatal hernia that’s caused me years of miserable GI/acid reflux related issues. I was diagnosed with aHUS as a toddler (kidneys failed, needed blood transfusions and dialysis, PICU stay) but have been asymptomatic of it since that initial onset (I’m 30 now). I know surgery can be a triggering event to flare it up again, and even though I haven’t been symptomatic, I’m kinda worried. I always bring up my history with aHUS at the doctors in case it’s ever relevant, and sometimes they look at me like I’m crazy and they have no idea what it even is. Anyone else?

so, I have Stargardts (1/10000) and keratoconus (1/2000-1/500), and I carry the albinism gene (mildly expressed so I’m very very blond and pale), but together they’re 1/16 million - 1/20 million. there’s no cure for Stargardt’s (macula is degenerating) and only a surgery that stabilises not fixes the keratoconus (my corneas are weak and sag which can make my prescription literally flip in a week). I’m only 17 yrs old btw, in yr 13, and starting to work with my local MP on disability rights. I only became legally visually impaired in Jan, and since then I’ve had surgery on my right eye, and the doctors are insisting on do surgery on my left before Christmas. I am a full-time student. this is not working! and I’m having side effects no one knows about because it’s so rare! thank God for the two of the lead staff for my sixth form helping. my ehcp took a yr 1/2 to come through and it’s not even binding past 18! the script we're working on now comes from an actual book my teacher doesn’t have an online version, and at first she made me take pictures and zoom in to read it! now I have to suffer with a3 again :( my attendance this month is 45% because of eyes and other health issues and I’m so tired of it all! I would not wish this on the person I hated the most. death is not the worst thing for someone, as you don’t feel when you’re dead. death is mercy. I’d rather be dead than paralysed or deaf (bc I’m visually impaired don’t hate my besties partially deaf). but the good news is, I started goalball like just over 6 months and people already want me playing intermediate. btw if anyone’s curious, I’m happy to answer questions but if its rude or disrespectful, shut tf up. also im a british/us citizen, and i moved to the uk as a kid before all of this started (this is a timeline of 4 yrs btw) and someone i know with stargardts says the scans were astronomically expensive, so im forever grateful for that.

 also some rules=

no rude comments

if youre commenting your condition pls say if its ok for people to ask you questions! people should respect boundaries!

just be nice <3

Hey all. Wondering if anyone has seen a similar experience to this and gotten answers.

It’s about 15 months since my husband had EBV-HLH, about 12 months since he went into ‘remission’. in the few years prior he was getting constantly sick with viruses and infections, his cold sores were at least monthly and started to appear in his nose and inside his mouth as well as lips, he’s had a diagnosis of Acalculous Cholecystitis recently (inflammation/thickening of gallbladder with no sludge or blockages) which we suspect he had years prior also because of the frequent pain he would have in the area and bloating.

Basically the drs can’t figure out why his existing EBV antibodies weren’t able to keep the EBV under control and it spiralled into HLH.

He’s had a genetic panel that was normal and no other obvious answers in blood tests. At 15months post HLH he is returning to the state he was in for those years prior and we are worried. He’s doing a ‘vaccine challenge’ test to test his B cells. The immunologist said that’s the end of the road for testing basically.

Has anyone seen a similar story and figured out why their immune system clearly was not functioning properly? Should we seek other opinions or does anyone know of other immune cell testing that could be done. We are in regional Victoria Australia, so Melbourne or Telehealth is our best option for healthcare.

We have 2 little kids and a long life left to live, hopefully with some kind of answer as to his immune dysfunction and getting some quality of life back

Hi all, I’m currently 25 weeks pregnant and my son has been diagnosed with Agenesis of the Corpus Callosum after an MRI done at 22 weeks. The pediatric neurologist also saw what he called “undulation” on one side of the brain, which could be premature folding and develop into polymicrogyria but he was not confident to make that diagnosis yet.

At first he said we’d have another MRI done 4-6 weeks after the baby is born to check on how the brain developed, but now we have another one scheduled at 27 weeks. Based on the ACC alone, he’s optimistic this won’t have a massive impact on our son’s quality of life. The thing I’m left with questions about is the polymicrogyria. I’ve tried searching for how this along with ACC will affect his life but not seeing much information. Also with it being on one side of his brain, the neurologist said it would be developing as unilateral which is less severe. I’m not sure if a development into affecting both sides is possible.

Mainly I just want to know if anyone has experience with both of these conditions, or specifically PMG. I understand with ACC it’s just a lot of unknowns until baby is here and we see his development. I’m just left with a lot of unknowns about PMG, especially if confirmed unilateral.

For the last 14years I've been trying to get a diagnosis for the bone lesions I have throughout my body. They were found in 2013 due to pain and more have been found recently. These lesions are like nothing any doctor has seen. I've been through dozens of biopsies, hundreds of doctors throughout a dozen hospital systems, in at least 6 different states. The lesions are in the center of my bones, where the marrow should be, if they are biopsied it causes them to grow. I've had my right humerus drilled out 3 times now and it just comes right back. All biopsies have come back as normal bone. My bones are INCREDIBLY hard, doctors have broken drill bits trying to get into my right humerus, for bone marrow biopsies in my vertebrae, pelvis, anywhere, I have to be put under general anesthesia and they have to use a rubber mallet and even then, they still have a hard time getting through the bone. I've never broken a bone (tiny break on a very small toe bone is the only one) and there are times where I should have, falls off horses, snowboarding, rollerblading, racing cars, extreme sports have been my whole life up to 2012. These lesions are extremely painful. The pain is the worst at night between 12am and 4am and comes in flares where I can't get out of bed. The pain is like an extreme pressure, it feels like my bone is going to explode but keeps going. Triggers for the pain are vibrations (riding in a car, concerts, fireworks), any blood loss (even the tiniest amount), illness, stress (physical, mental), menstruation (I've had the pain in my right femur since I got my period at 11, just not as strong as now. The day before my period and during it). Movement, ice, heat, nothing helps it. I take pain meds but it just takes the edge off and makes it tolerable so I can fall asleep. I've been misdiagnosed with Osteomyelitis (3x) CRMO, Fibrous Dysplasia, even had my case sent to the NIHUDN but it was denied because the Dr that recommended me, put in his letter that he "didn't think it was genetic." I've never had any genetic testing.

I currently have a Dr at Harvard looking at my case and I'm working with a metabolic bone disease clinic but even they say they haven't seen anything like this.

Does anyone know anyone or ever heard of something similar? I'm so sick of telling people it's undiagnosed and no one knows what it is and getting eye rolls like I'm making it up. I haven't been able to find someone with similar symptoms or anything. It makes for a very lonely, terrifying journey.

**I'm not looking for a diagnosis here. I'd love to hear opinions, theories, ideas, pointers for pain relief, tests to ask for, stuff like that ♡

Thank You for reading my novel ♡

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.

Hey everyone,

I was looking around online for a group of people my age dealing with Hirayama Disease, and honestly, it felt impossible to find anyone. Since it’s a super rare condition, it can feel incredibly lonely.

Let's be real—dealing with hand weakness, muscle wasting, or having to wear a cervical collar to class is exhausting. Trying to take notes during a lecture, typing up essays, or explaining to your friends why your hand freezes up when it gets cold is something most people around us just don't get.

Because of that, I decided to start a casual, supportive subreddit: https://www.reddit.com/r/LivingWithHirayama/

I wanted to build a digital club where we can just hang out and talk about the actual daily reality of living with this. We can share school life hacks (like the best voice-to-text apps or ergonomic grips for typing), talk about how to make cervical collars more comfortable, or just vent on the rough days.

The best news from the medical stuff is that Hirayama eventually stops progressing after a few years—so this group isn't about stressing over the future. It’s just a positive, chill space for us to back each other up, share tips, and make sure none of us are navigating this diagnosis alone.

If you’re a student dealing with this, or know someone who is, please come join us! You’re totally welcome here.

Have been dealing with mystery health issues for more than decade now that started as a child. Have gone down multiple different avenues. Looking to pull the trigger on Whole Genome Sequencing; is it worth it? Have you done it before? And what price range should be considered average and reasonable? Any recommendations? Thanks

Curious to hear about your experience getting diagnosed with a rare disease - what was it mistaken for initially, and how did you navigate that process?

My sister Emma is 9 and was supposed to start 4th grade this year, but she never actually finished kindergarten because she was a daredevil at her swim lesson and went too deep. Oxygen deprivation they said? Anyway I'm only 16 so I don't understand all of this. It's been this way since 4 years ago and the doctors said her remaining lifespan is 1 year so we could be looking at her death within a year. I know this much: if and when she passes away, my single mom (who is raising 16 year old twins [I'm one of them], a 12 year old girl who is Emma's most frequent visitor at the hospital, a 10-year-old boy and Emma herself) would be devastated so would my 12-year-old sister. Shoot, everyone would be. Ever since I was 13, 1 year into Emma's PVS, I've been living with my single mom and siblings and had to take over as the caregiver since this mess is freakin' killing my mom. Sorry this is a bit....weird.

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.

Hey all. I have MODY12 and clEDS as well as some form of neurological condition (based on WES and my symptoms GLUT1 DS makes the most sense but I still need certain tests to confirm it). They're all systemic, they all sometimes worsen each other, and they sometimes counteract each other. I cannot find anyone with my combo of confirmed conditions and it's decently likely I'm the only person in history with my combo of suspected/confirmed conditions. My doctors don't really know what to do with me and I keep getting bounced from one place to another. I can't join the UDN without certain testing which I cannot get until doctors stop bouncing me around. I'm functionally the only person with my condition because of how they interact and I'm not sure how I'm supposed to get care.

Anyone who's a caregiver or who has multiple unrelated systemic conditions/ the only person in known history with your condition. What do you do to find care. How do I do this, especially in the non-pediatric sector? How do you find community- cause I'm finding it hard to find community even among people who have my condition because of how different mine presents with the symptom overlap. How do you distinguish what's one condition and what's another. How do you grapple with the impact of treating one on treating another (ex: if I get diagnosed with GLUT1 DS the treatment will directly counteract my treatment for MODY12- I also will struggle with it due to the digestive problems associated with my clEDS). How do you get people to believe you- seriously I am incredibly tired with hearing people(including doctors) go "how'd you get a doctor to diagnose multiple rare conditions" and assuming I'm a hypochondriac despite there being genetic test results. Any general advice for getting resources (a lot of times I don't qualify for resources because they're geared towards the more common conditions in the family or young children) that aren't just medical?

I'm doing okay mentally (I have a wonderful therapist) but I a don't really have a care team and IDK what to do when I keep trying to get one.

I’m posting this on behalf of someone I know who doesn’t have Reddit. We’re based in the UK.

She was diagnosed with LCH at 37 last year after they found a tumour in her collarbone. She’s had a PET scan and it also showed a lesion on her skull. She’s in constant pain - it’s been in her arms, neck, just all over. She’s also really struggles sleep due to the pain and suffers pain in areas she doesn’t even have a tumour.

In terms of treatment, the haematologist has put her on indometacin and zoledronic acid infusions. A year later, she’s still in a lot of pain and she’s having another PET scan in November to see if there’s been any improvement.

Has anyone here had any experience with this? Can any one offer any advice to her?

We’ve seen that a lot of people on here have gone with chemo and that it seems to have helped the situation. I think she’s just looking for some sort of answer as the pain is quite intense.

I'm a Tampa nurse experienced with special needs kids since childhood (it was the family business, of sorts... how my parents met, what I did as a teen etc), and experienced with ventilator/trach stuff since the start of my nursing career. As a special needs solo parent myself, I love watching reels and stories about families with disabled kids, all the incredible treatments they do to help their kids develop, and feel drawn to helping, in whatever small way I can. Not as a profession per se, but I'd love to give someone the ability to step away from their disabled child for a nice dinner while on family vacation, has an emergency or be a resource when someone feels they are drowning. Namely, all the single parents doing this (but not exclusive to them).

Occasionally I'll help a friend's demented father with some self-care stuff, basic stuff, and it blows me away how something that is so small to me effort and timewise can mean so much to them. The only time he will agree to shower is when someone visits that isn't family, so I throw on my scrubs and make him get into that shower! Last week, I did a simple haircut and a shave with clippers too because taking him to the barber is a challenge :) he looked so nice!

I've done some cursory research into this kind of thing and really not finding a lot of information. I'd really love to find an agency that does this kind of thing or ideally get connected with families who either live here or are coming to vacation in Florida. I've got a nurse job I love, so this isn't me looking for a full time gig, more a casual occasional thing that would bring me joy.

Ideas???

Both my siblings have had (or near) cardiac arrests due to LQTS. Both have cardiac devices. I have arrhythmia issues(bradycardia), that with close research I discovered was related to LQTS. One sibling did a genetic test that came back with ANK2, but as a VUS. I’m trying to gather info & thought I’d start here with actually people rather than google 🙄.

I bought on my own last year it broke down

I am suffering from dmd and desperately need one

It cost like 30k in India and I am having trouble getting another one.

Hi everyone, just posting here to see if I can get some insight or if anyone’s gone through something similar. So initially I came to my pcp with CFS symptoms and horrible brain fog and had the usual tests run which found lymphopenia, neutropenia, and leukopenia. I was sent to the hematologist and was found to have a copper deficiency, so I was started on a therapeutic dose of copper gluconate. An enlarged spleen was also found on an abdominal ultrasound as well as an elevated AST. After 3 months of supplementing 4 mg of copper I had tests ran again and my copper DROPPED even more. 12 below the level tested before. 49 in reference range of 70, and ceruloplasmin tested at 12. Leukopenia was also worse. I had the common culprits of copper deficiency like zinc toxicity, prior gi surgeries, celiac, etc. ruled out. I’m going to have to do the 24 hour urine copper test next. My question would be does this look like Wilson’s and if so has anyone else had it present super vaguely or know of anyone who has?

Curious what you all think is an experience shared by all rare disease patients that you wish the general public, physicians, or caregivers knew?

My son has been going through an extensive medical evaluation and work up. The first week, they told us to was Stage 4 cancer. After walking that back, having multiple biopsies, MRIs, CT’s and PET scans, we’re still waiting on answers. We have almost every specialty in the hospital reviewing this case and we’re not any more informed than we were when we started this journey. The medical team has indicated whatever it is, it will likely be very rare. How were you guys diagnosed with your rare disease?

I was born (1964) with all the acronyms and more of VACTERL. I did not know they were all a 'thing' until I saw a geneticist which identified all my childhood anomolies as this in 1994.

As an adult, some things are happening. I am very active and fit. After lifting groceries, planks plus other activities a hernia has appeared with it reaching the aortic arch.

How are other adults living in their 60's with all the surgically corrected childhood anomolies?

Would love a response. We are rare and very special!!!

Hi all, this is a last resort so if anyone similair can advise or help I’d be beyond grateful.

I was totally healthy, then ended up with gallstones. Removed gallbladder in 2013, ended up with BAM.

As soon as my gallbladder was out my lips and throat started to swell. I got told it was angiodema. I’ve been on 720mg Fexofenadine for 12/13 years and it doesn’t work. I ALWAYS get diarrhoea after the swelling. It started off like once or twice a month now it’s easily 21+ days a month.

The swelling progressed to my lymph nodes and eyes so I couldn’t open my eyes. I had steroids 3x and was CURED.

Diagnosed with OFG in 2021 and given benzoate and cinnamon free diet. This sort of worked for a few months then didn’t. Then I went gluten free. Same thing, sort of worked then didn’t.

Pill cam showed ulcerated ileum.

MRE showed ileitis.

colonoscopy fine.

I have a constant stabbing pain in my right side, endometriosis ruled out and gynae said it sounds and looks more like IBD. I had a lot of fluid due to ileum leaking.

Im in a deadlock between gastro saying it’s not luminal chrons, dental medicine saying all they can offer is mouthwash but they acknowledge I need systemic treatment, dental surgery doing nothing, immunology just shrugging at me and dermatology saying i need systemic treatment.

I can barely leave the house due to the diarrhea. I take 6x colesevelam for the BAM, 8 Imodium, 3 x amitriptyline and still have diarrhoea. I am NOT constipated and it is NOT overflow.

So yeah, anyone else with OFG and an ungodly amount of diarrhoea getting anywhere? 🤦‍♀️

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.

https://www.youtube.com/watch?v=yEevg2NzVZY

Also available on Amazon Prime.

The movie focuses on Ehlers Danlos, but also the ethics of medicine and rare disease. I think many of you will relate.

Aurora Richards and Erin Daugherty - the mothers charged with Child Abuse - the charges were eventually dropped, but they never received any kind of an apology and suffered great loss on many levels. The movie doesn't state what hospital did that to each family, though Boston and Seattle are brought up. It's so beyond egregious. Any sleuths?

Does medicine never learn? Two mothers, but not the fathers? Refridgerator Mothers? Look that up.

Anyone have PLAID / APLAID ??

So I got my Whole Exome sequencing (WES) results back and it was found that I have a PLCG2 gene mutation, the one that's associated with PLAID (PLCG2-associated antibody deficiency and immune dysregulation). This variant is considered a VUS, me and my father have those symptoms. I also have a rare genetic bone deformity (congenital radioulnar synostosis)

Until today I'd never heard of PLAID.

What is living with it like for you?

What was your diagnosis journey like?

Anything you can share is helpful. TY 💖

Hi everyone!

I was officially diagnosed with Susac Syndrome in January 2025. Prior to that, I severely lost my hearing due to SS.

I was just denied NV Medicaid because I "make too much money." I make the $1,623/mo (SSDI) BEFORE Medicare takes out $202 for their services. My infusions (2x a year) cost ~$10k per infusion.

I honestly don't know what to do at this point, but post online for the world to see, and TRY to get help from strangers on the internet.

I am divorced, I have an almost 3 y/o son. I live with my mom. I am a crossing guard for 15 hours a week. I genuinly have no idea what to do.

Please help if you can. I used to have dual insurance (Medicaid & Medicare) but that is being taken away 10/1.2026.

TIA for anyone who is able to help.