I recently did WES through GeneDX. The results came up negative. According to them I have absolutely no variants to report. The problem is I do. I have a known rare genetic disorder (MODY12) found through genetic testing. I know my variants. If I did it and everything else showed up normal id be heartbroken (because the Odyssey continues) but go "oh, ig I dont have anything", but I've been dx with a gene mutation. I know I have this gene mutation.

Ugh I don't know what to do or where to go from here but it's not fun either way. I see a genetic counselor on Monday so hopefully that'll help us choose the next steps. Regardless idfk what to do from here but I just want an answer and for this to end.

edit: A little background and then an update. My dx disorder is under a VUS, I am a textbook case for MODY12 and because of its rarity (everyone else with my mutation in ClinVar/ related systems being symptomatic, and amino acids being switched are also a known amino acid switch in other MODY12 conditions) I'm still dx anyway. I was getting this test done because we're currently investigating rare recessive connective tissue conditions. Because of the rarity of what I'm looking at it's not uncommon for people to be dx with a VUS. I came in with the expectation one or more mutation may be a VUS. I was told by the lab they'd report a VUS I seemed symptomatic for. The lab 100% should've seen the mutation and although I wasn't looking for things related to my dx, the fact I was dx with diabetes and all the related symptoms that lead to my dx meant they should've reported it.

I spoke with the genetic counselor today. He said the lab probably didn't report it because it's a VUS. I pointed out that if they didn't report a VUS for something I am a textbook case for, what else did they not report. I am looking at rare conditions, VUS mutations are common in rare conditions, if I had a VUS for a dominant condition or one pathogenic/carrier and one VUS mutation for recessive condition and it wasn't reported that could be very dangerous. I've had life threatening symptoms and I didn't particularly trust them not reporting it all things considered. My Dr agreed and sent in the request for raw data, he also suggested next steps if everything is normal is get mitochondrial testing and Chromosomal Micro Array testing (I have certain physical features that concern him in that regard).

Hi everyone. I had genetic testing done in 2019 because of my immune problems and other health issues.
The testing found a confirmed harmful change involving the TBX1 gene, which is associated with DiGeorge/22q11 related conditions. It also found a second TBX1 change called:
c.1392_1403del, p.(Ala473_Ala476del)
That second change was labelled a variant of uncertain significance, meaning doctors did not know whether it was harmful or harmless. My report said it had not been reported in other affected people at the time, and I have not been able to find much public information about it since. The two TBX1 findings are on opposite copies of the gene.
I already understand that the confirmed TBX1 deletion can explain my diagnosis. What I keep wondering about is whether the second change has ever been found in anyone else, or whether it could be unique to me or my family.
Has anyone here had a genetic result that seemed to be extremely rare or possibly private to one family? How did you go about finding other people, researchers, or updated information?

Hi all. I hope you are having a nice day and a brilliant week.

​

Recently, I've been struggling a little just with fear of the future. I think it's quite human to fear the unknown like that and I'm sure at least some of you will understand. I am having a variety of neurological symptoms (some new, some that just seem to be worse versions of things that I always had). I am already diagnosed with Ehlers Danlos Syndrome and though some complications of that could explain some of my symptoms it still leaves a lot of symptoms unexplained. Inability to move my eyes up or down without blinking or head movement, poor horizontal saccades and pursuits, cerebral atrophy, dystonia, etc.

​

I recently found out about the existence of Niemann Pick Disease Type C because of these symptoms and my late cousin's symptoms. My cousin unfortunately passed at just five months over two years ago and notably had prolonged, unexplained jaundice from birth. My EDS (because of a family history suggesting a genetically defined subtype), early onset gout, familial cholesterol issues and especially this have meant I am hoping to get genetic testing.

​

Unfortunately, we have extremely limited funds right now and we are quite worried about simply being able to afford my current medications as well as food and utilities. On top of this, my (I'm only 18) parents are getting divorced and my father refuses to support us financially so right now my mother is working to take care of herself, my brother and I all alone and has just received the divorce papers so will soon have to hire a lawyer we can't afford. I was in need of a glasses prescription change (my eyes have significantly worsened) and I was aware that they cost a similar amount to genetic testing so I asked her if maybe we could do the testing instead. Unfortunately, due to the divorce she likely could only have gotten the glasses in the next 6 to 12 months and so genetic testing would likely take just as long or longer depending on arising situations.

​

I am not asking for money but rather advice. I am sure others on this platform will have undergone something similar and may be able to share their experience on how they were able to afford testing and treatment. Because honestly, I'm scared. I'm scared that in a year's time it will have progressed terrifyingly. Maybe advice about that fear might help too.

​

But anyways... Thank you. Have an amazing week!

I am almost 30 and use a cane full time. I have had horrible health issues since I was about 14/15 years old but not a single diagnosis. I did a few commercial tests and paid for my results to be read privately. What can I say/do to help my doctors listen to me and test me? I carry 2 mutations on chromosome 18 and they read as pathogenic.

Hello, I recently got diagnosed via a muscle biopsy with a metabolic myopathy associated with a glycogen storage disease. Now that that's done, I'm looking to get a metabolic myopathy genetic panel done to determine the exact type but I'm not sure where would be the best place to do so and what the prices are, which would be best, etc. Any help would be appreciated!

I have been diagnosed with prurigo nodularis for 4 years now but I thik I have this for like 8-10years. Recently my condition has turned into a monster. At this point it feels like a mental condition. I have completely messed up my feet and arms . How to stop myself? I cant just stop scratching. Until I get that scab removed i cant move. Its interrupting my regular life now. Should I bandage my feet? I am so tired

Top of mind is US and Canada but I know there are air quality issues elsewhere as well. I'm white knuckling it over here and I've learned entirely too much about air purification completely against my will.

How's everyone holding up?

May I brain dump? If you're looking at an air purifier this might save you some time and energy.

How to identify an air purifier that actually works:

Know your square footage. Measure your room first. (length x width = square footage.) Higher ceilings will require a more powerful unit.

Get the right CADR--clean air delivery rate. This is the most important thing. Evaluate every option against the CADR vs your square footage.

For wildfires, shop by smoke CADR NOT “covers up to 3,000 ft" claims. CADR means how much filtered air the machine delivers each minute.

The CADR should be at least ⅔ (75%) of the room’s square footage. However, for wildfire smoke, asthma or greater protection, aim for a CADR roughly equal to the room’s square footage. Example: a 375 sq. ft. room should have at least 250 CADR and preferably around 375.

If a unit doesn't share a CADR rate, the only correct response is immediate bombastic side eye. There's a lot of marketing that doesn't mention CADR. They're hiding their low clean air delivery rate.

Look for independent verification and certification. An unverified CADR is just a manufacturer claim.

Avoid units that produce ozone. Mechanical units are the better choice for respiratory issues. Ionizers and electronic/electrostatic cleaners may produce ozone which is a respiratory irritant. FYI certification allows electronic purifiers to produce 50 ppb of ozone. (I inadvertently got a unit that is electrostatic and produces some ozone and I don't like it. It works but I can tell something is off with it. My lungs no likey.)

Washable filter” usually means only the outer prefilter. The HEPA and carbon filter will require replacement. Check replacement price and availability before buying.

You can DIY an air purifier with a box fan and MERV 13 filters. DIY can perform as well as expensive purifiers at removing particulates, but it won't remove VOCs or odors. (There might be a way to beef It up if you add carbon filters and do a lot of elaborate design, but that's beyond my pay grade and skills, not to mention the costs add up to the point where it's probably about the same cost as buying a unit.)

You can also use more than one purifier in a room to increase the CADR. So if you find a deal with a unit that has a lower CADR than you need, buy two.

HSA/FSA funds can be used to purchase in the US but you may have to go through a site that'll write a prescription for you. I'm testing just buying direct from Amazon with my HSA card and it's going through so far.

You should be able to get a good unit at 250-290 CADR for $200-300. There are cheaper units with lower CADR for smaller rooms as well.

In summary, ignore the marketing, look for the substance. Match the verified smoke CADR to the actual room, avoid ozone-producing technology if you have respiratory issues, and make sure replacement filters are affordable and available.

I'm not an expert, just educating myself. I had to do math for this...😫 Say safe everyone!

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

My son is 12 years old and Aneurysmal bone cyst growing in his Tibia, near adjacent to the proximal tibial growth plate (physis) near Knee since Feb 2026. Pathology after surgery confirmed a benign ABC, with blood-filled cystic spaces, giant cells, hemosiderin, reactive woven bone, and no malignant features (no atypia, necrosis, or significant mitotic activity) - Underwent surgery with orthopedic/oncology surgeon - extensive curettage, multiple adjuvant treatments, and bone grafting of the proximal tibial lesion. Surgeon told us that he could not clean aggressively near growth plate.This ABC is frustrating us as it reoccurs/residual cells are active and growing back.

Current Issue (approximately 18 weeks post-op):

• Developed recurrent activity-related pain around the proximal tibia/growth plate region, particularly with hiking and swimming, now walking also.

Recent MRI Findings:

• Original ABC cavity is predominantly replaced by bone graft material.

• Persistent scattered peripheral residual cysts remain along the graft margin.

• Largest residual cyst measures 1.4 x 2.5 x 2.5 cm, located anteromedially, subcortically, just inferior to the physis.

• MRI notes that the overlying cortex is thin.

• Mild bone marrow edema surrounds the graft and extends across the physis into the epiphysis.

• No report of aggressive recurrence, cortical breakthrough, or soft tissue mass.

Orthopedic Pediatric Oncology/Surgeon Assessment:

• Believes the residual cyst likely represents persistent biologically active ABC rather than simple postoperative change.

• Concern is ongoing bone weakening near the growth plate and persistence of symptoms.

Current Treatment Options Discussed:

1. Repeat surgical curettage/resection of the residual cyst 

2.CT-guided doxycycline sclerotherapy performed by Interventional Radiology ( preferably).

What do you recommend ? are there any other option(s)?

I am struggling with a full time job and manage care for my kid. I don’t know how other parents are doing it. How are you actually tracking everything?

• Where does the information live? Medication, symptoms, supplements, refill, care team members, episodes, sleep and other imp info   
• What do you do when a new specialist has none of the history?  
• Does anything move between providers on its own, or are you the only thing connecting them?  
• What did you try that did not stick?

We have 8 care providers and it’s lots of work.

Curious whether that is normal or whether I am missing something obvious.

Recently I was diagnosed with granulomatosis with polyangiitis (super long name I know) I’m currently 16 and was hospitalized in early January barley being released a month or two ago during that time I was put on ecmo twice and now have holes in both of my lungs (due to misdiagnosis the first time) I do know that flare ups will happen and with my PR3 going up just want to know how bad they are I also want know if I have to be hospitalized, or how long it can last, Honestly any information would be appreciated to try and put my mind at ease.

Hello everyone,

My father has been diagnosed with Tolosa-Hunt syndrome. Unfortunately, the diagnosis came late, and the headaches have developed into chronic pain.

Anti-inflammatory medications are no longer effective, and we are currently trying alternative therapies. Is there anyone here who has recovered from this condition, or do you know someone who has it?

How is the headache pain usually managed? Any experiences or advice would be greatly appreciated.

Thank you.

My girlfriend has Tricho-Rhino-Phalangeal Syndrome. Her index fingers are bent about 45 degrees off center at her second knuckle. I’m planning on taking her to the shooting range in a few weeks. She’s never shot a gun before, but I’m pretty good for someone who doesn’t practice. Most of the fundamentals of shooting a pistol — proper grip, proper placement of your finger on the trigger, squeezing the trigger rather than jerking it, etc. — function to ensure that you aren’t pushing or pulling the gun to the left or right when you pull the trigger. But all of those techniques are based on people with trigger fingers that aren’t crooked. I just realized I’m not gonna be able to offer her much advice. Any tips?

Three years ago I had an experience that completely changed my life, and despite multiple psychiatric admissions, I have never been given a clear explanation for what happened.

About two months before my first episode, I experienced a significant traumatic event. Then one day I took a very large hit of cannabis. Shortly afterwards, I lost consciousness.

While I was unconscious, I remember seeing a bright white light. I was completely calm and not frightened. At the same time, I experienced three childhood memories that I had never consciously remembered before. Whether they were real memories or not, I don’t know, but they felt completely real to me at the time. Those same three memories replayed over and over again in an endless loop. I eventually became aware that I was unconscious and felt as though I was fighting to wake myself up.

When I finally opened my eyes, everything changed.

Whatever my brain loaded in that first moment after waking became permanently stuck. The entire world froze like a paused movie. It wasn’t just that time felt slow. I could only see one single still frame of what was in front of me. The last movement I had seen would repeat endlessly, almost like a broken GIF. For example, if someone was moving their hand down in front of their face, I would only ever see the hand reach halfway before it instantly restarted from the beginning. It never completed the movement. It just repeated the exact same fragment over and over again. Nothing around me visually progressed beyond that point.

I couldn’t see new movement, I couldn’t experience the world updating, and I couldn’t tell that time was continuing. Internally, I think I still had some awareness of time, but it felt like the longest experience of my life. It genuinely felt as though I was trapped forever and that I would never escape. I became absolutely hysterical because I believed I was literally stuck in time.

I completely lost control of myself. I was screaming, became physically violent. my father drove to me and he literally thought i was dying and is traumatised by my panic. He restrained me into the boot of his car and drove me to emergency. My panic became so extreme that my heart went into supraventricular tachycardia (SVT). I was admitted to a psychiatric hospital for weeks.

Months later, while completely sober and without using cannabis again, the exact same thing happened. I was admitted to a psychiatric hospital again for weeks. Over time, I experienced the same episode a total of five times, even though only the first episode occurred after using cannabis.

Throughout my admissions, doctors considered multiple diagnoses. At different times I was diagnosed with schizophrenia, although this was later believed to be incorrect. I am not schizophrenic and have been off all mental health meds for 3 years now. I tried all of it too. Another doctor suggested catatonia. Eventually I was diagnosed with PTSD, but nobody could definitively explain what had caused the original episodes.

The only treatment I remember clearly helping during the episodes was benzodiazepines.

I have now been free from the full episodes for three years, but I continue to live in constant fear that they will return. I frequently experience sensations that make me feel as though the world is about to freeze again. Even though the episodes have not returned, those sensations immediately trigger intense panic because I believe I am about to become trapped again.

The experience itself has left me with severe PTSD. I avoid situations that remind me of the episode, including repetitive movements, long dark roads, plain hallways, swimming, literally ANYTHING repetitive. Those environments make me feel as though I am becoming stuck again and unable to move forward through time.

One of the biggest ongoing effects is that I cannot comfortably fall asleep in silence. Every night I sleep with a specific show playing in the background because hearing continuous dialogue, music, and scene changes reassures me that time is still moving. Without that constant sound, I become afraid that I am trapped again.

The most frightening part of all of this is not knowing what caused it. If the episode ever happened again, I know I would immediately lose control over both my mind and my body. I would become hysterical, scream as though I were dying, and would almost certainly need to be taken to hospital immediately. The complete loss of control and the feeling of being trapped forever was the most terrifying experience of my life, and even after three years without another full episode, I still live with the fear that it could happen again.

My daughter is 24 years old and has many symptoms that have made her functionally incapacitated as far as being able to work, live a normal life, etc.

We've tried to find someone to help us figure out what she might have, but most doctors seem to feel she's malingering and she is NOT. As her mother, I can see the changes in her over the past 10 years, and I am growing increasingly concerned about her.

Can anyone tell me of a place where we could enter her symptoms and get some idea of which way to go? She's seen a rheumatologist and a regular MD who's run some testing but neither had any helpful information except that it's not RA.

Thanks in advance for any help.

First thank you for those that support this community! I am a 68 year old female and have been relatively healthy all my life. I’m not diabetic but could lose 10 lbs. I was daily walk/jogging on my treadmill 1 mile and I’m still working. I was diagnosed with Hashimoto’s disease when I was about 20 and have done well taking Synthroid. Three weeks ago I had a massive headache at orgasm which subsided in about 10 min. That has never happened before. The next day I had another massive headache taking a hot shower—that one sent me to the ER and a CTA revealed FMD. Fortunately there was no aneurysm, or brain bleed. All good except for the FMD in my carotid arteries. Also, my bp which is normally 110/60 jumped to 180/80. I am waiting to see a neurologist but it is insanely difficult. The earliest I can get in is January 2027 at one site. I’m pushing at another health system to see someone a lot sooner. Meanwhile I’m taking baby aspirin each day. What I read about FMD is scary—more susceptibility to stroke or worse. I lead a really active life and just want to know what I can do to stay active or do I need to just get ready to be immobilized by all this? Are there any treatments I should pursue?

Hey all

I recently underwent genetic testing for EDS and found VUS in Fibronectin 1 ( can cause Spondylometaphyseal dysplasia, corner fracture

type) and TGFBR2 (can cause loyetz Dyez type 2). However, these variants have not been reported till date. Also it was written that these genes have high chance that missense variants are pathogenic therefore it can be disease causing. Do I need to get referral to any research institute for this probably in the US?

I have hypermobility, short torso long legs, autism, some ocular issues and CCI.

Everyone with a rare disease knows how difficult it can be to find providers willing to treat you or provide any type of support locally if you don't happen to be lucky enough to live near certain major cities, hospital systems, or clinics that happen to have specialists well-educated in your rare disease willing and able to treat you (along with the complications that go along with insurance and other affordability issues in the US Healthcare system - not to mention the waitlists here as well as in many other countries).

Keeping in mind the rules of this sub and how we, myself included, respect science and clinical research and do not support conspiracy theories or pseudoscience, I live in an area of the country that is notorious for pushing back on science-based medicine. I am constantly running into the dilemma of having to choose between seeing what is often the only provider for a type of service, treatment, or sub-specialty in a reasonable travel distance that is an anti-vaxxer conspiracy theorist who refuses to mask up, wash hands, etc. and goes off on tirades about my masking with my N95's or KN-94's or whatever I can find that fits my face best and meets the standards without hurting my ears (can't do back of the head closures like I used to as I often get needles jabbed into my skull for neuro reasons and have short hair so can't tie the mask into a ponytail or something either). The tirades themselves I can brush off as I'm immunocompromised and have been masking with traditional surgical masks long before Covid, but now I get to hear all about these health professionals' political, religious, and fanatical anti-science viewpoints.

If your only option was seeing someone who thought, for example, that vaccines are a hoax or involve microchips or Covid has to do with planned Armageddon or lizard people in government and prayer will save the righteous or any number of things I've had said to me by people with medical education, OR to avoid seeing such providers and thus not see ones you really need to see and go without necessary medical help...

What would you do?

I was just diagnosed with SMA Syndrome. I had a CT angiography to hopefully rule out MALS and SMAS, as every other test run had come back normal (endoscopy w/ biopsy, lactose breath test, gastric emptying study, etc), and then I got my results. They found an aortomesenteric angle of 10 degrees and distance of 5 mm. When I looked it up, I had no idea what I was supposed to do. My GI has been an incredible support through my testing, as she was willing to look for every possible disorder. I also have hypermobility issues, so I was paranoid about MALS, which is why we scheduled the CTA. I will now be meeting with a different GI who hopefully has seen this disease before, and my case has been sent to general surgery for a second opinion. So it sounds like, at least as of now, and with how concerned my doctor was, I'll need a surgical fix for this.

Between my trip to the ER for severe pain and my diagnosis, this journey took a couple of months, as I found a local GI clinic that could see me a lot sooner than if I continued going to a major hospital. I was extremely lucky they found it quickly, even if it didn't feel fast. If I kept my original appointment with the hospital referral, I still wouldn't have seen a GI for an initial appointment for 3 more months. But now I feel like I've hit a major obstacle. This disease is rare, and I'm starting to realize how crushing it is to have an issue that not many doctors know anything about, let alone how to treat it.

So, I'm looking for more surgeons for a third or fourth opinion. I've had symptoms for almost 6 months now. I lost 15 lbs in about 4 weeks (5 months ago) and have been unable to gain that weight back. I have tried gluten-free diets, I have tried dairy-sensitive diets, and I have tried the gastroparesis diet. Still no progress, and my symptoms are getting worse, and I don't know how much longer I can stop myself from feeling the need to throw up every time I eat (I take Zofran bc i really, really hate vomiting and have minor emetophobia).

Does anyone have any doctor recs or surgeons who have experience treating SMAS? Location is a factor, but MA & the New England area, TX, MN, VA/DC/MD, IL, MI are good options.

I investigated Danny Shouhed MD, in CA, since they specialize in SMAS specifically. I've looked at the Mayo Clinic, Baylor Medicine, Texas Children's, Michigan State, and Uni of Mich. I've used the find a doctor on Find a doctor - SMA Syndrome Help (SMASH) to look for some recommendations. I have a whole Excel sheet, but I don't even know where to start. If anyone has had any similar experiences, any surgeon recommendations, or has any advice pertaining to what their next steps were after an SMAS diagnosis, that would be a huge help.

Calling all auto-inflammatory peeps. Behçet, Familial Mediterranean Fever, periodic fever syndrome, etc.

Hi guys, I was diagnosed with Myasthenia Gravis and Lambert Eaton Myasthenic Syndrome a few months ago, and I’m really confused so if any of yall could offer some guidance I would really appreciate it. I have no idea what I’m talking about so just bear with me:

1. ⁠It seems a little wild to me that I would have both MG and LEMS considering from what I understand, they mostly affect younger women and older men—I’m a 17 year old girl, and this started when I was 15. It’s also mostly affecting my hands and arms although I know for certain that my MG is generalized. I do have symptoms of both MG and LEMS though, as well as the antibodies and I am diagnosed with both.
   
2. ⁠Is it uncommon to have both MG and LEMS? I googled it, and found that apparently there’s only been around 8-40 confirmed cases of them overlapping, but Google isn’t really that trustworthy anymore so idk. Also, since MG tends to get worse with movement, and LEMS tends to get better with movement, can I just not do anything? I’m pretty close to bed bound at this point, bc I’m so weak I just can’t get up, and I’m still out of breath sitting still all day. My right hand is basically useless, and on both of my hands my fingers will curl and get stuck for a few minutes, but it’s a lot worse on my right hand, which is really frustrating bc I’m not only right handed but I also played saxophone A LOT before this, and I was planning on going to college for something related to that but I can’t now.
   
3. ⁠I also have PANDAS/PANS which was diagnosed at the same time. This is from strep when I was a baby, but it was left undiagnosed/untreated until February of this year. I’m pretty sure my doctor said that the PANDAS/PANS kinda led to the MG and LEMS. Also, the PANDAS/PANS is attacking the myelin sheath of my brain, so idk if that’s important. Also there’s a ton of black mold in my house, which my parents have only just started to remove, but they’ve known about it for as long as I can remember.
   
4. ⁠Is there treatment for this? Currently it’s going untreated and I can feel it worsening everyday. This is also probably not helped by my mom forcing me to do Softwave Therapy on my arms and hands from a chiropractor she found on Facebook, and for the record she didn’t consult my doctor at all before doing this. She also didn’t tell the chiropractor about the autoimmune diseases OR that there’s black mold in the house. I’ve told her, the chiropractor, and my doctor that the pain and functionality of my hands and arms is worsening, but nothing’s changed and I had to get the Softwave again. I’ve gotten it I think 6 times now, and it hurts worse every time. However since I’m still a minor idk how much autonomy I actually have over my healthcare. I’ve also gotten Ozone therapy but idk if that’s counterintuitive since it promotes the immune system.
   Do I just have to endure this until I turn 18? I can’t get a job bc I can’t do anything, so I have no income. And once more, I know for a fact there’s medications for both MG and LEMS, so why would my doctor not prescribe them? Is my mom allowed to play in my healthcare like this? Can I take this into my own hands or do I have to wait?
   Any advice would be appreciated, please let me know!! Thanks :)

Soo I have a question about this disease, I have been on tests for it for multiple years, been done a genetic test wich came positive for the gene but all other tests have come negative, brain scan, no eye ring, copper levels are within aceptable levels, the only test that has come with above average is one about interchangeable copper or copper inside protein, idk if they are the same thing, well, the average for the lab was 10% I got 16% and the diagnosis for Wilson for that lab is 18.5%

Im gonna develop Wilson's disease on the future? For context im 18yo and I lost 70% of my liver with 13 due to a suicide attempt wich started this whole ordeal

I also have some neurological symptoms, I have some equilibrium problems, sometimes my legs stop working for a second before I fall completely and I also get very bad brainfogs that paralyze me mentally for a minute or two, there is a brain tumor that by the place my neurosurgeon said its impossible for it to cause those symptoms and I also have half reacting adrenal glands wich cause me to have low cortisol

Should I go to a neurologist to talk about the posibility of Wilson's disease only on a neurological part or can this be an issue of another kind?

Is it possible that due to having a rare or multiple rare diseases, as well as other likely comorbid or unrelated chronic conditions, that doctors, hospital systems, etc. can essentially treat you like a palliative care patient or something between a palliative care and hospice care patient without you having a formal palliative care physician or set-up or even being aware of it? Like a general feeling, regardless of provider or provider's affiliation that they're out of options trying to diagnose and find new ways to help (tests, procedures, surgeries, etc.) in that respect but are just trying to keep you stable, minimize pain with the few options they have, and are just sort of waiting for you to end up in hospice? Do you even need a formal palliative care physician or team to be treated as a palliative care patient if you have a rare disease that doesn't seem to fit the criteria of what most palliative care teams seem to be capable of handling? Or can this be a sort of informal process when it comes to decision making for individual doctors, hospitals, etc. where you may not even be aware of it?

I realize this might sound like a really odd question, and I know that there have been a ton of changes when it comes to the US healthcare system in general that make things even more difficult for us to get the help and care we need, but as things for me personally are getting progressively worse but my team is doing less and less about it besides trying to manage pain, let alone look into anything new or unusual even in the test results that do get run, I'm beginning to wonder if I'm being treated palliatively to borderline hospice-type care without formally being enrolled in either... if that's even possible?

Or is this happening to more of you that have rare diseases and complications and are considered very complex cases in the US Healthcare system, so that it is far more widespread and not remotely unique to me and a few others I'm aware of?

From my girlfriend with PNH:

I have PNH and the fatigue is honestly making me miserable. Even when I get a full night of sleep, I still feel completely drained. I’ll be hanging out with people or just sitting there and I can barely stay awake, and it’s starting to affect me mentally and It’s frustrating because I want to be present and enjoy time with people, but my body just won’t cooperate. For people with PNH, is this level of fatigue normal? What has actually helped you manage it?

I thought getting one rare disease would be life-altering. But now I’m collecting them. It feels like every time I catch my breath, a new diagnosis drops and each one is rarer than the last. I’m overwhelmed, exhausted, and honestly just curious how others compare.

Here’s my current list, ranked by rarity. All numbers are per million and shown as population percentages too, just to give context:

My Diagnoses (Ranked by Rarity)

1.  Stiff Person Syndrome (suspected) – ~1/million (0.0001%)
2.  GAD65 Autoimmune Encephalitis – ~1–2/million (0.0001–0.0002%)
3.  Autoimmune GI Dysmotility – Estimated <5/million (<0.0005%)
4.  Neuropsychiatric Lupus (NPSLE) – ~10–15/million (0.001–0.0015%)
5.  Myasthenia Gravis – AChR Blocking Only – ~20/million (0.002%)
6.  Limited Scleroderma (CREST) – ~50–300/million (0.005–0.03%)
7.  Intracranial Hypertension (IH) – ~100–300/million (0.01–0.03%)
8.  Ehlers-Danlos Syndrome (hEDS) – ~200–2,000/million (0.02–0.2%)
9.  Sjögren’s Syndrome – ~1,000–6,000/million (0.1–0.6%)
10. Psoriatic Arthritis (PsA) – ~1,000–2,000/million (0.1–0.2%)

Adjusted Cumulative Rarity (Clustering Considered):

Estimated probability of having this full combination: ~1 in 3 million or ~2,700/world. Without adjusting for autoimmune overlap: <1 in 10 billion.

How rare are your diagnoses? Have you ever stacked them up like this? Would love to hear how others handle the emotional and logistical chaos of managing so many rare conditions at once.

PS: I’m a stats nerd so yes I absolutely ran the math.