Hello this is my first post here. I have been diagnosed with a rare form of MND called distal hereditary motor neuropathy type 7b with bilateral vocal cord palsy. I have a permanent tracheotomy. I was just looking to see if anyone else has this condition? Thank you

Greetings, it is my first post here.

I am not a medical professional but I would like the help of one...or many.  My father has been struggling with an undiagnosed, progressive illness since 2016 that has left him disabled and wheelchair-bound with constant, unrelenting pain. We have been to multiple doctors of multiple specialties, but none have been able to give us either a diagnosis or a treatment that gives him a decent quality of life. 

I recently watched a video where people reached an accurate diagnosis by having doctors online discuss their case, and I wonder if something similar could be achieved with my father, as finding a group of doctors or an organization willing to help him would be more than wonderful.

Here I will compile some of the information I can recall, but if needed, I have access to 10 years worth of medical data.

He's 57M, 172cm, ~60kg, Latino from Colombia. No smoking or drinking. History of an aneurysm as a child that “solved itself” (it no longer appears on scans), chronic migraines that barely respond to nerve blocking, falling asleep anywhere if he stayed still for more than two minutes, and an incident where he got pityriasis rosea from allegedly taking too many painkillers (acetaminophen) for the migraines (That was over 15 years ago).

Onto the current issue: 

-it started with a mild pain in one of his knees while bending down, then became permanent and had him in crutches in less than a month. It then jumped to the other leg, nerve and muscle dead proceeded, there was weight loss involved and keeping him at 60kg has been an effort ever since. Then came sporadic issues with swallowing, his throat would just stick together and not let him breathe (this has currently subsided as of a year ago). He sometimes complains of dry eyes, but it isn’t often. Then it was his shoulder, his neck and his wrists, so now he can’t rely on the crutches. He also manifests feeling his knee bones scraping against one another. While he can stand, sometimes his legs stop responding. Pain is constant and cold makes it worse. He also became very sensitive to temperatures, to the point he feels “freezing cold” on his body but particularly on his legs while being at 27°C. He describes the pain as being stabbed, being poked by needles or feeling the affected joints are going to burst from the inside.

He has taken a hot bunch of medicines, but the current ones are:

-Pregabalin

-Rituximab

-Acetaminophen

We have gone to neurologists, immunologists, geneticists, internal medicine doctors, pathologists, orthopedics, physiatrists, psychiatrists,and oncologists.

-no cancer

- no Amyotrophic lateral sclerosis

- no multiple sclerosis

- no rheumatoid arthritis

- no Guillain-Barre

- Inconclusive Sjogren syndrome

- negative Stiff-Person Syndrome 

- Inconclusive Ankylosing spondylitis

- no tumors

- no heavy metals

- no vitamin deficiencies 

Finally, he’s the oldest son of my grandparents, and none of his siblings have shown any similar symptoms, nor my grandparents.

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?

Hi everyone. I know that a lot of people in this community rely on Medicaid for medical coverage for a rare disease. As we all know, HR.1 was signed into law last July, which cut Medicaid funds by $930 billion over 10 years, causing around 11.8 million people to lose Medicaid coverage.  

I know that our rare disease community will be especially impacted by the new work requirements and decreased funding for home and community-based services and other optional waivers.  

Advocacy might be new to you, but wanted to share a resource! If you are interested in advocating for Medicaid in your state, the EveryLife Foundation for Rare Diseases is collecting stories to be shared publicly and with legislators as part of their initiative to protect Medicaid funding.  

I figured that I'd share this here if anyone wants to participate! You can use this link to share your story: EveryLife Foundation for Rare Diseases | Share Your Medicaid Story 

helpp

I came across these two articles today [ Skin-Brain Axis ] [ Eczema, Acne & Mental Health ] and as silly as it may sound, they made me feel really hopeful. One discusses the new research into the relationship between stress, the nervous system, & chronic skin diseases, and the other one goes into how stress related signaling may actually contribute to diseases like prurigo nodularis (PN) rather than being a consequence of them.

I (25F) was diagnosed with PN a few months ago out of no where and the only explanation I was really given was that my stress was making itself visible through my skin. I’ve recently started Dupixent, but I’ve been struggling to stay hopeful and positive as I’m not noticing much of a change. PN has made me extremely insecure to the point where I’m in long sleeve shirts and pants even though it’s a thousand degrees outside so seeing research actively looking into the biology behind this made me feel a little less alone.

For those of you living with PN or other rare skin diseases, have you found anything that helps calm your nervous system or reduce stress? I’m open to anything (therapy techniques, medications, supplements, exercise, products, etc) whatever has helped you. I feel like I’ve been in a constant state of stress and I don’t have a baseline to return to anymore.

This is also my first time posting on reddit so if I need to change, add or post this to a diff sub please let me know!

Following up on a recent post with additional medical information.

For the past year, my daughter has been living with severe, debilitating knee pain that no doctor has been able to diagnose or successfully treat. She went from being a healthy, active, high-performing athlete to becoming completely disabled. For the last five months, she has been confined to a wheelchair and is unable to stand or walk for more than a minute due to the severity of her pain.

Her pain is constant and unbearable. She barely sleeps, and being confined to a wheelchair all day has taken a tremendous toll on her entire body and her mental health. She has panic attacks, cries every day, and has lost everything that once brought her joy, her friends, her hobbies, her dreams, and the life she knew. The hardest part is that we still have no answers, no treatment plan, and no doctor who can tell us how she can get better.

MRI results below 

LEFT KNEE

IMPRESSION:

1.    Mild enlargement of the anterior suprapatellar fat pad with normal signal. This is nonspecific.
2.    Findings suggestive of patellar tendon lateral femoral condyle friction syndrome.
3.    Minimal knee joint effusion.

RIGHT KNEE

Cartilage loss of greater than 50% thickness is seen involving the lateral facet of the trochle abnormality is identified.

IMPRESSION:

1.    Findings suggestive of mild suprapatellar fat pad impingement.
2.    Findings suggestive of patellar tendon lateral femoral condyle friction syndrome.
3.    Chondromalacia involving the lateral facet of the trochlea.
4.    No other evidence of internal derangement.

She had tried PT with amazing therapists and its failed, Hydrotherapy as well, she has had a dextrose injection and an unguided cortisone both resulted in more pain. She has tried taping, icing, anti inflammatory meds, painkillers, gabapentin. she has also been checked and confirmed to not have CRPS, Arthritis or any other condition besides knee related problems to be causing this. Also she has a 1.2 patella and does not meet the patella Alta criteria for surgeons to perform TTO surgery. 

Surgery is not an option. Well first multiple knee specialists have stated her hoffas is not severe enough on MRI to justify surgery and they would not perform it. As well surgeons have explained, it's considered a high-risk, low-reward procedure. There is a significant chance it could lead to fibrosis, worsen the condition, or even cause permanent disability. Because the procedure is not well researched, it isn't considered a viable option, especially for someone so young. Surgeons themselves have said they won't do it.

The largest problem has been no one can figure out the source of what's causing the knee to have this degeneration and the main source of the pain is a mystery to doctors almost all stating they don't understand why her pain is so bad.

We are just desperate and horrified by this situation. 

Every day she tells me she wishes she had never been born or that she doesn't want to be here anymore. As her parent, there are no words to describe how heartbreaking and terrifying that is. I refuse to lose my daughter because the system failed to give her the care and attention she desperately needs.

If anyone has experienced a similar knee condition, knows someone who has recovered, can recommend a doctor who truly investigates complex cases, or has any guidance at all, I am begging you to reach out. Even the smallest lead could make a difference. Thank you 

My son is diagnosed with a Monostatic Fibrous Dysplasia on the skull. In the frontal, high frontal calvarium to the right of midline, there is a 5 x 5 x 1.5 cm focal intradiploic expansile lesion, expanding outwards and bulging more of the outer table than the inner. This lesion is limited by the coronal suture.

I (27FTM) finally got diagnosed this year and have several specialist appointments over the next few months to figure out how they can help. So far, the most I've gotten is my pcp advising bedrest as she pushes to get me seen sooner by a neurologist.

I started getting sick back in 2021, starting with episodes that I thought were seizures. It was confirmed they were not, and i was just called crazy and referred to therapy. I only add in that I'm trans to share that I have faced the same medical sexism that most women face, especially then. No one believed that I was actually sick.

But while I was told it was mental health, my physical health was slowly collapsing. I started getting migraines that took me out for days at a time, severe sensitivity to light/sound, muscle spasms, neck/face pain, and fainting spells. By the time I was taken seriously, I could no longer walk. It has caused tinnitus and vision issues, and chronic fatigue due to pain.

Perhaps I didn't recognize the severity because as a person with autism, I was always taught to ignore my body. And I definitely have trouble communicating my symptoms to doctors. I don't know if there is any correlation between Eagle's and autism or EDS (a connective tissue disorder very common in people with autism). However, having hupermobile EDS has undoubtedly worsened my complications from Eagle Syndrome.

In case you haven't googled it by now, Eagle Syndrome is a rare pain syndrome caused by either the styloid bone in the neck growing too long or the stylohyoid ligament hardening. Either one can compress nerves, blood vessels, etc and cause complications in addition to pain in the neck, ears, and face.

I've had many of those complications, but my body also tried way too hard t change positions, posture, etc to reduce pain, causing back and hip problems and sciatica. That made it even harder to diagnose.

I guess I'm just sharing to see if anyone else on here has it or perhaps is still on a journey towards diagnosis and recognizes these symptoms.

If you want to see others who have it, I recommend this forum: livingwitheagle.org

I meet with a neurosurgeon in 2 months to discuss surgery. Fingers crossed that he will be able to do surgery. 🤞🏻🤞🏻 otherwise I will need to find a specialist out of state and pay out of pocket for surgery.

I have LADD (very minor version) its main characteristic are of what I have bad teeth and a finger like thumb and small Cup shaped ears, can you tell me what you think about LADD and I’ll answer your question!! Only about 150 of us in recorded history

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.

I had a tumour hemangioblastoma in my cerebellum removed when I was 24 weeks pregnant in March 2026. After testing from that tumour they diagnosed me with a rare genetic condition called Von Hippel-Lindau Syndrome on 16th July 2026. Only 1 in 36,000 people have this worldwide. Lucky me! I am a 33 year old female from England.

Von Hippel-Lindau Syndrome is a mutation of the VHL gene in your DNA that suppresses tumours. In myself instead of suppressing that my body will make tumours and cancers which will grow quicker than the average person.

Most common areas affected are ears, brain, spine, kidneys, adrenal gland but can affect your whole body. It is incurable and requires MRIs and other scan to check for tumours.

Yes because it is genetic my children could have the gene and need to be tested.

I desperately need help. This is so far beyond anything I know how to handle, and I have no idea where to turn anymore.

A year ago, my daughter started having severe pain in both knees. She went from being a healthy, active high performing athlete to completely disabled. She has been unable to walk and has spent the last five months in a wheelchair.

Her pain is constant and unbearable. She barely sleeps, and being confined to a wheelchair all day has taken a tremendous toll on her entire body and her mental health. She has panic attacks, cries every day, and has lost everything that once brought her joy, her friends, her hobbies, her dreams, and the life she knew. The hardest part is that we still have no answers, no treatment plan, and no doctor who can tell us how she can get better.

We have seen what feels like hundreds of doctors. Most appointments last only 10–30 minutes, and we leave with no real solutions or direction. The failures of our medical system, the constant pain, and the complete lack of hope have pushed my daughter to attempt to take her own life. Every day she tells me she wishes she had never been born or that she doesn't want to be here anymore. As her parent, there are no words to describe how heartbreaking and terrifying that is.

If anyone has experienced a similar knee condition, knows someone who has recovered, can recommend a doctor who truly investigates complex cases, or has any guidance at all, I am begging you to reach out. Even the smallest lead could make a difference.

I also want to say that we have seen world-class specialists. This is not simply a matter of finding a more educated doctor. Our experience has been that too many providers don't have the time to fully understand complex cases, even while charging enormous amounts for appointments. I refuse to lose my daughter because the system failed to give her the care and attention she desperately needs.

Please message me if you would like more information about her MRI results, medical history, or everything we've tried so far. Thank you for taking the time to read this and for sharing it if you can.

CMTC Cutis Marmorata Telangiectatica Congenita. My son was diagnosed with this. My question is. If you or someone that you know has this can you tell me if your siblings have it too? I wanted to know if I have another child if there’s a chance they will get it too. AMA

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 have been diagnosed for about 5 years now. My cartilage in my ears are crackling and my Targus is soft. It makes me feel sick to my stomach. I’ve been in a flare for 3 days. Went to ER and got a steroid push and a taper pack. I’ve been on IV Orencia for only 4 doses. My whole body is flaring. My tendons in my back down to my toes are bad. I’m trying to rest but my rumination is getting to me today about potential airway collapse. I’m trying to think what I would do in that emergency. I know call 911 but it’s never happened to me, could I talk? How much of a collapse would it be? Just my racing thoughts today. I’ve also messaged my Rheumatologist team and they are aware.
I’ve been on almost every class of biologic even IVIG. I hate steroids! Necessary evil.
I find it hard to cultivate joy and happiness when I’m flaring, but I’m trying.
Anyone else here with RP? I could use a good pep talk. I don’t use Facebook(RP groups) or Social media much.

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.

My story started in Wildhorse Plains Montana. My hands fuzzy at night but I chalked it up to doing tree at our cabin. The next morning I was numb up to my knees and elbows, off we went to the little hospital 7 miles away. The little hospital is staffed my nurses and PAs. PAC Ben correctly diagnosed me with GBs, I thank god every day for the staff and Ben because they saved my life. They sent us off to Logan medical center in Kalispell MT . They were waiting for me in icu, I was on a ventilator my the next day. This was the start to my Long GBs journey. This is all the typing my fingers will do for now.

None of the docs at Kaiser will do it, yet they don’t know what tests to order or don’t have them available.

I’ve seen every applicable speciality. No answers and no treatment.

I need a doctor who understands that at this point, a more specialized center or research is more appropriate. I’m tired of fighting so hard with doctors that have no further path for me.

If anyone knows a doctor who would be willing to be my recommending doctor it would be so helpful. I seriously dunno what to do anymore.

My daughter (19) was diagnosed with CLPB deficiency/3 Methylglutaconic Aciduria, homozygous. They are testing her sister's (17) clpb gene as she has the same presentation, some things worse, but this gene wasn't in her cataract panel. Any experiences with this disorder to share with this mamma would be greatly appreciated? It is so rough finding both information and experiences.

Just turned 25(M) and got diagnosed with Wegners after being misdiagnosed with Crohn's due to the skin lesions they found at first, they had put me on Rinvoq which ended up triggering the vasculitis in my lungs leading me to be in the hospital for 2 weeks. Happy to know what it is now and am going to start treatment soon on Rituximab. I literally have every symptom other than the kidney problems (thank God). I Have an amazing rheumatologist and dermatologist who seem to actually care about treating me. Every doctor I've seen is surprised because of my age lol. The most painful thing right now is the leg joint pain and hearing loss, other than that the coughing is pretty manageable, but I'm keeping my head up seeing everyone here share their stories of living with this disease. I was a bit scared at first but it's nice seeing how many of you went into remission. I won't let this keep me down!

I did WES a while back to try and figure out what's up with me, I'd already received a clinical diagnosis of MODY12 at that point so I knew I had a VUS that WES should've reported. It came back nothing reported. Got my genetic data I had a lot of VUS and turned out to be a carrier for a couple things that made sense, but nothing pathogenic for something I showed symptoms for. That said I had a VUS (infact a couple) for things I was symptomatic for. I got a clincal diagnosis of clEDS (what we'd suspected I had prior to the WES) today. Next month I see a specialist who can hopefully test me for the last thing I'm symptomatic for (Glut1) and we'll see if the VUS actually explains my symptoms or if I'm gonna have to keep looking. 2 out of three done. Hopefully the Odyssey will be fully over soon 🤞

The rare disease ribbon colour is black and white stripes representing zebras. hEDS (and the POTS/MCAS/gastroparesis cluster) has had such a massive awareness explosion in the last few years that the zebra ribbon has become functionally synonymous with that specific community in most people’s minds. It might sound like gatekeeping but these disease are genuinely not rare ones anymore. As someone who is also diagnosed with hEDS, POTS, and gastroparesis along side my extremely rare autoimmune neurological conditions, I feel that many of the medical, financial and psychological struggles are not the same for people with these conditions and people with rare diseases.

The presentation of rare diseases is quite important and when it’s flooded with, for example, hEDS contents, I feel that we’re losing awareness. I’ve had multiple people coming up, pointing at the zebra striped ribbon on my backpack and say “oh so you have hEDS!”