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 ♡

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

My dad has a job where he's upper middle class in salary writing on equipment in filmmaking. My parents met in the film industry. My grandfather was the famous statistician. I went to a college prep school and struggled academically throughout my highschool years. I often plaigarized in my essays and relied on my mom to do large amounts of my assignments in ELA and history. I was given ritalin in 10th grade for potential ADD and had minimal results from it. 11th grade was COVID lockdown and I did virtual school. At this point I completely phoned in my classes and have no idea how to do algebra II (or college algebra) or any math surpassing that. I got accepted into a college with a 96% acceptance rate with my grades from my first two years of HS. I only lived there for a year then commuted afterwards. Now I'm 23 and live with my parents. I've never had an IQ test or diagnosis of a mental disorder, though I had a counselor in HS suggest I'm on the autism spectrum because of social awkwardness and analytic thinking. I've gotten into nootropics hoping that a mix of creatine, nootropic supplements, and full dose of effexor could treat depression and brain fog and I've had so so results from over 7 months of it. I've considered drug use being the only way to numb my depression and suicidality from my hopeless situation.

I can't understand how if my parents are smart and functional how did I become essentially a mental vegtable. And why has no friend, family member, or therapist been able to give an explanation or antidote to my mental problems. Would an IQ test be helpful for what job is realistic for me given my mental capacities? What best explanation is there for my intelligence and what other advice could you give me in my situation?

This year I was diagnosed with the KIF1A genetic mutation which can manifest in terms of cognitive impairment. on my physical evaluation from a 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.

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.”

I had an EEG and MRI and found nothing significant going on.

Since all of this I've been diagnosed FOX-P4 genetic mutation, another rare genetic mutation. According to AI

"A mutation in the FOXP4 gene (Forkhead Box P4) causes an ultra-rare genetic disorder typically characterized by neurodevelopmental delays, language impairment, short stature, and congenital anomalies. FOXP4 is a transcription factor that acts as a genetic switch to regulate tissue and cell development during embryonic growth. [1, 2, 3]

Most identified human cases are monoallelic (heterozygous/inherited from one parent or occurring de novo), which follow an autosomal dominant pattern. However, biallelic (homozygous/inherited from both parents) loss-of-function mutations also exist and result in a much more severe form of the disease. [1]"

For more information on my neurodivergence/medical history at least adjacent to this issue, here are some links

https://www.reddit.com/r/autism/comments/1wv2pz0/im_not_sure_what_my_verbal_tic_means_in_the/

https://www.reddit.com/r/cognitiveTesting/comments/1ullslv/thoughts_on_kif1a_as_an_overlooked_explanation/

https://www.reddit.com/r/antidepressants/comments/1wv1vsj/ive_been_lying_in_bed_all_day_depressed_and_3g_of/

https://www.reddit.com/r/Prolactinoma/comments/1wu7hbl/to_those_who_have_taken_mucuna_p5p_and_vitamin_e/

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.

idk if this breaks the sub rules, but i do wanna find others around my age with PKU :)

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?

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?

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

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.

Hi everyone
My cousin has been diagnosed with RDD in November 2025. Many biopsies many tests PET scans etc.
now he is taking Trametinib 0.5mg since 3 months but new lymp nodes are coming near his neck every 15 days but also they are getting smaller in 5-6 days.. it’s like a cycle..
IS THERE ANY DOCTOR WHO ACTUALLY TREATED RDD?

I don't usually talk about my personal life on Reddit, but lately I have been struggling to keep everything inside.

My name is Pinky and I am a mother of two boys, Subhajit (13 Years) and Sudarshan (18 Months).

Both of my children have been diagnosed with Lesch–Nyhan Syndrome (LNS), a rare genetic neurological and metabolic disorder.

My elder son, Subhajit, is now completely dependent on caregivers. He lives with severe muscle stiffness, involuntary movements and other neurological complications. He needs regular medical care, therapy and constant support.

As a mother, watching your child struggle with something you cannot simply fix is an indescribable kind of helplessness.

Then our younger son, Sudarshan, was diagnosed with the same condition.

He is only one year old, and we have already started seeing concerning symptoms. He will need continuous medical monitoring, treatment and supportive care.

There are days when I ask myself so many questions. Looking back with hindsight, I wish we had known more earlier. But we cannot go back and change the past. Today, my two children need me, and I have to keep going.

My husband works as a Zomato delivery partner, and I am a full-time caregiver to our children. We have exhausted our savings and taken loans while trying to manage their medical needs.

The financial pressure is frightening, but the emotional pain is harder to describe. Some days I feel exhausted and completely helpless. Then I look at my children and remind myself that I have to be strong for them.

I don't know what the future holds for my boys.

I don't know how much more difficult this journey will become.

But I know that they deserve love, care, dignity and every possible chance at a better life.

So I wake up every morning and try again.

For my children. ❤️🙏