My mother has had this black bone disease for a number of years and in recent years it has taken a toll on her cognitive function. She has seen many doctors at Yale and none can pinpoint what's wrong with her.

Around two years ago she started having these other symptoms: intense double vision, as well as trouble speaking. She knows what she wants to say but has a very hard time speaking the words.

The double vision is probably the most hindering her. She had seen many eye doctors and her eyes seem to be healthy on paper, yet she sees double and there is no sort of corrective lenses to counter it.

I know it's a long shot but if anyone can shed some light on this it would be greatly appreciated.

Thanks in advance.

We are looking for XLH patients and caregivers in Canada to participate in a new research study. It is an online study, 30 min long, reward for participation is $75. Paid 24-48 hours after successfully competing the study.

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Thanks in advance. Jasmin

Hi everyone,

I wanted to share my story and see if anyone else in this community has faced a similar situation or has insights into potential correlations between rare diseases.

About five months ago, I was diagnosed with GPA (granulomatosis with polyangiitis). During the investigation process, an MRI revealed a tumor on my pituitary gland, which led to a second diagnosis of acromegaly. Both my rheumatologist and endocrinologist have told me these conditions are unrelated, but the timing and rarity of both diagnoses make me wonder if there could be more to the story.

For context:

I started Rituxan treatment shortly after being diagnosed with GPA.

The pituitary tumor requires brain surgery, but because of my suppressed immune system, surgery has been delayed until I recover.

I’m deeply concerned about the possibility of the tumor impacting my optic nerve, which could force an earlier surgery despite the risks.

This journey has been overwhelming—both from the emotional toll of managing two rare diseases and the physical effects of treatments like prednisone. I’m sharing this here to see if anyone else has faced overlapping rare diseases like this or knows of any studies or scenarios that might suggest a potential connection.

If nothing else, I hope this post can help connect those of us living with rare conditions and navigating the complexities they bring. Thanks for reading, and I appreciate any insights or stories you’re willing to share!

— A fellow rare disease traveler

I am proud that my employer, Bionews, helped me to tell my story of growing up with the rare diagnosis of Friedreich’s ataxia. It was super hard to revisit these difficult days of my early journey with FA. Still, the hope is that presenting it in this immersive format, with text, audio, video, and photographs, can make the path of life with a rare disease like ataxia feel less isolating. You’re not as alone as you may think, just like I’m not as alone as I once thought. Please check out my rare journey:  https://friedreichsataxianews.com/experience/matts-rare-journey/

I have neurodegenerative symptoms (tremor, ataxia, neuropathy, cognitive decline), and I have a pretty good idea of which disease to test for.

I'm terrified though. If it's what I think it is, it's not treatable, probably won't be in my life time, has a poor prognosis (although progression is often slow). I'm worried about how a diagnosis will affect my social/dating life. I'm worried that finding out will cause me stress and that stress will accelerate progression (I have clearly noticed accelerated progression during times of stress!)

If I'm wrong though, there could be a treatable cause that we're missing, although the common ones like MS and vitamin deficiencies have already been ruled out.

I have had a full neurologic workup, clinical exams and MRIs, but have not yet had any genetic testing.

Is ignorance bliss, or did you find your life got better after knowing? I know this is highly personal, but it's hard for me to wrap my head around it.

I (18 yo female, 161 cm, 58 kg) have been suffering from God knows what since I was born. So far I have concluded (well my doctors have too) that they belong into three categories: metabolic, neurological and musculoskeletal. Metabolic ones include abdominal pain (usually happens in the middle of my cycle), frequent urination, excessive hunger, periods of hypo and hyperglycemia along with elevated iron levels. Neurological are mostly myoclonus with muscle stiffness. Musculoskeletal are joint and bone pain, hypermobility with sprains flat foot and bunions (likely due to the hypermobility). And other things such as pallor, bruising, hair loss and frequent infections (I used to barely get sick but now I’m sick all the time). I’m only diagnosed with ADHD right now and take methylphenidate and fluoxetine but all the symptoms started before I started pharmacotherapy. As for past illnesses I had urinary retention with urinary tract infection at 6 yo. Family history: asthma and Hashimoto’s (mom), uterine tumors (mom and maternal grandma), breast cancer (maternal grandma and two paternal grandmas), bowel cancer (maternal grandpa), insulin resistance (paternal grandfather and brother), endometriosis (paternal aunt) and other thyroid issues (brother and maternal grandmother). My father has also psychiatric problems (just like his father) and migraines while extended family members had cancer including pancreatic and thyroid. And today I found out about this test that can apparently diagnose essentially every genetic disease through sequencing. Do you guys think it would be worth it in my case? I want to have kids but I don’t want them to suffer like I do. I want to be a doctor but I feel like I’m not good enough if I don’t even know what’s wrong with me. I’m really desperate for answers and anything that could make me feel better.

I (18 yo female) have been suffering from God knows what since I was born. So far I have concluded (well my doctors have too) that they belong into three categories: metabolic, neurological and musculoskeletal. Metabolic ones include abdominal pain (usually happens in the middle of my cycle), frequent urination, excessive hunger, periods of hypo and hyperglycemia along with elevated iron levels. Neurological are mostly myoclonus with muscle stiffness. Musculoskeletal are joint and bone pain, hypermobility with sprains flat foot and bunions (likely due to the hypermobility). And other things such as pallor, bruising, hair loss and frequent infections (I used to barely get sick but now I’m sick all the time). I’m only diagnosed with ADHD right now and take methylphenidate and fluoxetine but all the symptoms started before I started pharmacotherapy. As for past illnesses I had urinary retention with urinary tract infection at 6 yo. Family history: asthma and Hashimoto’s (mom), uterine tumors (mom and maternal grandma), breast cancer (maternal grandma and two paternal grandmas), bowel cancer (maternal grandpa), insulin resistance (paternal grandfather and brother), endometriosis (paternal aunt) and other thyroid issues (brother and maternal grandmother). My father has also psychiatric problems (just like his father) and migraines while extended family members had cancer including pancreatic and thyroid. And today I found out about this test that can apparently diagnose essentially every genetic disease through sequencing. Do you guys think it would be worth it in my case? I want to have kids but I don’t want them to suffer like I do. I want to be a doctor but I feel like I’m not good enough if I don’t even know what’s wrong with me. I’m really desperate for answers and anything that could make me feel better.

Hello, Reddit community,

I’m reaching out today on behalf of families affected by an extremely rare and devastating neurological disorder called Pantothenate Kinase-Associated Neurodegeneration (PKAN). PKAN is a relentlessly progressive disease that primarily affects children, leading to severe motor dysfunction, loss of mobility, speech difficulties, and, in many cases, a tragically shortened lifespan.

You may have encountered someone in your life who struggled to perform basic daily activities like walking or talking, or who needed assistance just to get through the day. Perhaps you’ve seen a person whose muscles were locked in painful, involuntary spasms, unable to control their movements. This is the harsh reality for many PKAN patients, as dystonia—severe muscle contractions and spasms—robs them of the simplest freedoms. The disease slowly takes away their ability to move, communicate, and live independently, all while they remain painfully aware of the world around them.

But there’s finally a glimmer of hope: a promising new treatment called CoA-Z. Developed over years through dedicated research and support from the PKAN community, CoA-Z could offer real relief and improve the quality of life for those suffering from this relentless disease. Unfortunately, the approval process stands as a significant hurdle.

The FDA review and approval for a medical food like CoA-Z typically takes 24 months. For families who have already endured so much, this wait is excruciating. Every day that passes without access to this potential treatment is another day of suffering, and for some, time is running out.

We urgently need your help. A letter of support signed by as many people as possible could convey the urgency of this matter to the FDA and potentially speed up the review process. By adding your name, you can make a tangible difference in the lives of these families.

Please consider adding your name to the letter through this link: https://ohsu.ca1.qualtrics.com/jfe/form/SV_e2O9ru5nS7xXKPc It only takes a moment, but it could bring hope and relief to countless people.

Additionally, if you or someone you know has insights into how we might expedite the FDA approval process or has any relevant connections, please don’t hesitate to reach out. Every bit of support and information could be crucial in our fight against time.

On behalf of everyone in the PKAN community, thank you for reading and for any support you can offer. If you’d like to know more about PKAN, dystonia, or the treatment, feel free to ask – I’m here to provide more information.

Let’s stand together and make a difference. ❤️

I have been undiagnosed for years. I don’t know what this is and I really need help please. I had to take a break from college because of this. It’s been very hard to breathe and there is a lot of pressure in my sinuses where I can barely breathe through my nose. I can’t swallow without being in pain. I’ve also had severe ear pain and pressure in my Eustachian tubes.The pressure has never gone away and this disorder has been there for 4 years now. The ent suspected vocal cord dysfunction but they are not sure. Please help me 🙏🙏🙏

A reminder that your vote is your voice, the voice that is heard by government. So be sure to make time to get to the polls and vote, if you have not done so already.

its 330am & i dont have anything specific in mind for this post but.. ive never encountered anyone else with my arch nemesis lol. i was dx at 4 years old after playing in sulfer, i remember getting the rash that night in the bathtub & my dad calling my mom to have her come home from my sisters girl scouts camping trip. recently my home fell victim to a 200 gallon diesel spill from the neighbors & im in my own personal hell. all of the sudden im having reactions to my dish soap, my shampoo, my laundry detergent, my deodorant, and the list just goes on. it was really bad the fist two weeks, i could feel the diesel on the doorknobs & walls & furniture, itd make my skin tingle & then burn & then go numb & splotchy. i went to the ER 3 times & each time they dischargedme with a dx of anxiety without properly examining me and now im simply going to switch facilities because oof. its been a bit over a month now and im doing better but im in constant pain and discomfort and im worried this is going to be my new normal. im 22 and just cant handle this anymore

just wondering, does anyone have a mutation/disorder towards this gene? allegedly, only like under 200 people have it which I find slight hard to believe

I'm so tired of feeling this way. I feel like shit all the time. I used to be able to work out and move, and even though it was hard I still felt okay for the most part. Now I can't even do light exercise without feeling like I'm coming down with the flu for days afterwards. I feel so nauseous and fatigued all the time. The first thing I notice in the morning is how my body feels like it's drained of all energy. My mind is completely unfocused and foggy. I can tell my memory is getting worse. My lungs are have begun to get weaker. I probably need rest desperately, but with a 3 year old and an infant, that's extremely hard to come by. I feel so bad that I don't give my toddler the attention that I would like to. It feels like I'm watching myself die very slowly. Sometimes I wish I would just hurry up and die. This disease has taken over my whole life. I didn't think this was how life was going to be. I try to stay positive but honestly I'm so tired of fighting. I want to let go. I want to just let go of it all.

I have late onset pompe disease. I just need to rant and get this all out somewhere.

Although we don't struggle with a rare condition, me and a group of Human Centered Engineering Design students at the University of Michigan have spent substantial time on this subreddit attempting to get a sense for the everyday challenges that come with it. We are currently researching conditions affecting the face and how they affect eating/drinking both socially and physically, as well as the products and solutions currently available to help.

We put together a short, quick survey, and we would appreciate it if you could answer it if your rare disease or a loved one's rare disease affects their facial movement. From what we have observed on this subreddit, we believe that the feedback from this community could be immensely helpful.

https://forms.gle/vMnrj6rskfJx6mSL8

Thank you so much to everyone who takes a few minutes out of their day to answer this.

Hi everyone,

32 M

I posted here before, but I will write long story short, I have some kind of an immune disregulation that doctors in my country cannot find the cause for.

I have polyclonal B cell activation with slightly low immunoglobulins, especially IgM which is contradictory to them. Generalized peripheral lymphadenopathy is present alongside a cluster of symptoms including low grade fevers, fatigue, arthralgia etc.

So their conclusion is to consult a specialist outside of the country, since it doesn't match anything that they know.

I was curious has anyone done this before? And what are my options?

Thank you in advance.

It is really scary, but I am interested in knowing what other symptoms there are, other than the ones the health organizations provide. Does anyone have any resources for special or different symptoms than on health databases or is researching it in the field?

So i've been going to a neurologist, psychologists, psychiatrists, and lately an internist and i cannot rest until i find an answer because this is ruining my entire life, im failing college/work if this doesnt get diagnosed, i have to sacrifice myself to focus and get good grades and im so sick of it! im also sick of constantly being misdiagnosed with adhd, i dont want to hear people telling me they wish i admit im 'quirky' too. it hurts how people get their answers on a silver plate and dont need to research, while i get dismissed as being in denial bc of internalized ableism WHEN ITS MY GUT FEELING. I CANT FOCUS ON SH*T EVEN IF ITS A SUBJECT OF INTEREST, im so sick of hearing "everyone's symptoms are different", im too different to have it and someone w it said it sounds like i have smth else bc i need too much stimulation that the riskiest activities also have me drowsy and need so many videos on the side and snacks while studying to get minimal focus. this was before depression or trauma. They ruled out everything. I have antibodies attacking my thyroids, they did a test but couldn't find an autoimmune condition and my TSH levels are normal so that doesnt affect focus, i've also been on vitamin injections, BUT I STILL SLEEP 12 HRS A DAY, one psychologist at least believes me, she says i have symptoms of known neurodevelopmental disorders but i dont fit into a box which was validating, she wrote a letter to the undiagnosed disease network for me, but since i heard they only test for scientifically observable conditions and the undiagnosed, im scared i'll be ignored. please help me end this diagnosis hell where do i go to finally get the answer that i need? i cant take it anymore

I am actually looking for a community for FAP so that FAP patients can share about their life after treatment, their challenges and support each other emotionally. I am diagnosed with FAP this June and is undergoing treatment. Though doctor said that my life expectancy and quality of life won't be affected after treatment, I am not actually very optimistic. I read that FAP will still have a higher risk of Gastro related cancers. I also have fundic gland polyps in my stomach. Doctor said that fundic gland polyps can be controlled with medication. Not sure how true is this. Would appreciate if any FAP patient can share their stories. Thank you.

My niece was recently diagnosed with ADNP, which definitely explains everything we’ve seen, but she has another feature I find really interesting and am curious if it’s related - she has multicoloured hair. Overall her hair is red, but she has patches of blonde, strawberry blonde, auburn, ginger etc. I’ve never seen hair like it. Could this be due to her diagnosis? Her dad has just red hair and her mum dark blonde.

I (32M) have HFS. I have been diagnosed with it since I was 4 years old. There are two forms of the condition Juvenile and Infantile. Infantile is more severe and progressive. I am fortunate/unfortunate enough to have the lesser aggressive of the two. However I recently find myself wishing the opposite was true. It’s truly miserable and devastating especially when lumped on top of a traumatic childhood and the cruelty of life without such a rare seemingly insurmountable condition. It’s like life gave me the shitiest cards to play with and some of the cruelest conditions. I’ve never personally met anyone with the condition. The only real treatment is surgery and as a result I’ve had close to 40 surgical operations in my lifetime to remove the cysts it causes throughout my body. I’ve had all but two of my toes at least partially amputated and two of my fingers. My body has always felt like it’s aging at a hyper speed. I have countless scars. I can’t remember what it’s like to have normal touch sensations or to not feel some degree of physical pain and discomfort and pain. I’ve applied for disability numerous times and am always denied. (I did get an attorney who helped me appeal the previous time but I am ended up in need of money so I had to return to work. Therefore I only got temporary coverage for the time I was off which was about 13 months). Disability doesn’t even pay enough for me to afford anything or make any kind of better life for myself. I have little to no support system. I only have myself to rely on and that’s been my entire adult life. Up until this year I’ve worked in various jobs and careers but never was given opportunity to find a suitable and reciprocal position that would allow me to fully support myself. I just run myself dry and burnout in my efforts constantly growing more and more overwhelmed by the inability to find or create a sense of security in my future. People overlook me and judge me and use my condition against and as an excuse for why they don’t give me opportunities I see lesser qualified and equipped individuals given. When I was working I never went on vacation because all of my sick and vacation time was used to manage my health. In relationships it’s often as if women pity or use me to fill some moral void and then use the instability of my life and circumstances against me when it conveniences them. Add to it the fact that I have ADHD and am certainly neurodivergent. Life is hell. It’s far beyond lonely. I’ve searched for help with my condition but always come up empty. Even my team of doctors are left with mere cliche encouragement to offer. At this point I feel mentally stuck because my life has changed so much much over the past year. I m not near my team of doctors. I can’t afford to fix my car. The specialists I’ve seen are often scared or hesitant to treat me living in LA (with only family I have) now it will take me a year at least to find new doctors and restart build a team which is the only way to manage my mental and physical health with. Many people don’t take my insurance now. I’m too broke to pay for anything but rent, food, insurance, and my phone. Genuinely, I wish I was fortunate enough to have a more severe form of HFS so I didn’t have to live through this nightmare of a life.

On a softer note though. If anyone has or knows of anyone with this condition let me know. Similarly if there are any specialists who see this and could help me please reach out.

Hi,I have been diagnosed with the CNGM disease 3 months back. I have been looking for answers but it seems even the doctors don’t have any. It started with a mass on the left breast which was tested benign after the biopsy. I have been on antibiotics but the redness inflammation and discharge keeps reoccurring.There is very little information online. If anyone has been diagnosed with the same please comment and share your experience so it will give me hope that this will get better.

Hello, has anyone heard of this syndrome or know anyone who had it?

Hi everyone, a friend of mine suffers from a rare, genetic disease in which the brain is temporarily unable to transmit the correct commands to the body. A major symptom of the disease is constant fatigue, which has led to an inability to work and sometimes even keeps him bedridden for long periods of time. So far, the doctors have not even been able to define the disease by name.

Who could possibly give me some information on this? I would really appreciate any hint.

Disclaimer: There’s no genetic conditions that run in our family and I was fine way before that.

Hey there,

My name is Lai, I’m 25, 6’4”, 200 lbs., with no past illnesses but a very rare case I struggle to find answers in.

I grew up in a religious controlling family. They used to send me to psychologists since I was 4 till middle school but it all stopped as I reached high school. Safe to say i grew up in a stressful environment where I never really saw ”myself” or believed I was wrong. This was about to go away as in Germany when you turn 16 you become your own man and start to branch out and develop your own wings.

Things couldn’t have gotten worse as I was about to begin my life. My family upped and decided they want to go to a religious pilgrimage to Mecca. I could give 2 shits about religion. But I was 16 still I didn’t know better but I regret going there everyday, there I had so much built up stress, I was isolated, tensed up and reserved. I kept towards this negative trajectory until the 27th of December 2015, where I felt a ball drop in the back of my head. Right at the crown to the center of my brain. It was such a vivid and strong feeling and it happened instantaneously with me not assuming what happened. I felt the feeling shoot up right back in the top of my head again where the crown is, and I felt it so strongly it radiates through my hair. I actually believed my hair was turning gray (but it never did). However after this incident. I was never the same. My life was never the same. I had everything calculated since i was a kid and everything vanished before my life could get started. I lived in a constant state of fear and anxiety. I felt I was actually sinking in my brain. No one, no psychiatrist, psychologist, neurologist, no one can explain what it is. I felt I was repelling the world away from me. Everything never worked out and I had the worst throbbing headache in the back of my head. I, using common sense, tried to control it because if I let this control me it will consume my life and I was barely holding on.

I couldn’t fit in anywhere and you could feel if I did anything it would fail. It’s so weird saying it out loud but it feels like my brain is operating inversely. Rather than growth I felt I was constantly regressing. I was so scared and poor me at 16 years old couldn’t even explain it. I thought it’s something beyond me like religious but whatever it is because I’ve been wired since I was a kid to believe I’m wrong, I believed in it. I believed in my destruction. My looks started to get worse. I felt my hair will fall off like alopecia from the immense radiant throbbing headache I was feeling. To counteract it I cut my hair. But my hair kept falling from the stress. I felt life getting worse. My body getting worse. I had no clue what was going on but I kept hope that tomorrow will be better. But it didn’t get better it got worse and worse and worse. Days turned into months into 9 years and it completely destroyed my life. I've been working to shift my brain, to reverse whatever happened to me in Saudi Arabia but I failed. Below is what I feel now. I’m 25 years old:

- The back of my head feels numb. It’s a feeling I constantly want to shake away. The headache is always there it shows up in different patterns and pains and I can't counteract it. Sometimes extreme debilitating radiant headaches are apparent on top of my head, with extreme shooting pain like a Death Star beam of pain. No human should live through this, not even the devil himself.

- Poor Eyesight, Hair, TMJ in my Jaws, Extreme Stress, Can't concentrate, Extremely Bad Memory, Bad cognitive abilities.

- I feel I can constantly move my nerves in my brain leading to worse effects.

- Constant Neck cracking (I even had this since I was a kid)

- There are bulges in my head from the stress I endured.

- My brain feels corrupted, extreme memory and cognitive issues.

- This all affects my looks and wellbeing, I never did well financially ever.

- I even felt the world change, it’s so surreal and unexplainable. It felt life and reality took a shift for the worse.

This story also has another side, my body. I developed gynecomastia on one side where I was so embarrassed by it I held my body to the left to make sure my chest looked fine, it was a strenuous effort my left shoulder that I later developed into a depressed scapula which used to mirror the pain I felt in my brain (especially in the inner bottom right corner, the pain became unbearable and I couldn’t remove my shoulder, it was stuck) that developed more pain as well that I didn’t want, such as neuralgia both trigeminal in my mental nerve, and occipital), coupled this with the headaches and sinking feelings, I was in hell.

I was always reaching out to outside help but it proved not fruitful, through an array of trails and tests it gave me no outcome, EEG scans showed I’m fine, MRI scans showed acute hydrocephalus, probably me stressing my brain out to shut this sinking sensation off, but nothing more.

Psychologists would tell me it’s beyond me, they told me to seek clinical help and Clinics would tell me it’s in my head, yeah no sh*t, and so to see a psychologist, because they can’t see anything. Neurologists couldn’t understand it, giving me over the counter medicine that solved nothing, even nerve shots made me worse.

I was always in a reaching out but the cycle always closed towards "I’m on my own with this one, no one can heal me and I have no clue what’s going on", I decided to end it, I saw I’m some tough person to kill so I didn’t want to torture myself anymore as I saw people surviving falling off buildings and even though I had access to a loaded gun, I had no faith in the gun I have. It seemed it couldn’t do the job. I didn’t want to torture myself anymore, I did the only thing that helped me till this date, I starved, starved to death, either this thing in my brain goes or either I go. i started out small intervals of 4 days felt where I felt better, 7 days, felt I had a chance to get out, 13 days I felt rejuvenated. then 20 days. YES 20 DAYS, Gandhi did 21 and cheated. I was 20 days in and I felt I can go to 30.

During starvation i felt my whole body shut down organ by organ, my heart would pump insane by doing any effort, I would throw up constantly, my weight fell, and I struggled to regulate my temperature, but guess what, the headache and sinking feeling was still going strong, it wouldn't turn off, my body was giving in and this is still going ham destroying me, after 20 days I felt I had a small opening in my head and I recovered ate and drank again like nothing happened.

Once I broke out of it, I felt partially free for the first time again, I started to do way better than I ever did financially, live somewhat in a nice place and found the most beautiful girl in the world beside me, I was doing well but it was wearing off and I felt me going back to where I started and I wasn’t wrong. It did. I tried to hold back by trying everything but I felt the black hole vacuuming me back in my head creeping back, I even went to the hospital told them I have neuralgia and they gave me betamethasone shots but it didn't make it better but worse.

I’m back in my struggle with the same condition again, living a very bad life, my weight gained and I’m in a worse place with no money or future again, I’m so tired of everything and it’s a shame I had to live through this, I had my world figured out since I was a kid, again, it’s a shame this became my life, I blame my parents and I truly hate them, they are the reason for all of this, without them I would have been fine, I resent them so much.

I still have no clue what’s going on maybe I’m cursed but every single f*cking day since December 2015 have been attempts to reverse what happened to me to no success, I’m still trapped in a very bad state with no hope or future, I’m a failure because of what happened to me, the only thing making me hold on is I met the most beautiful girl in the world and if she’s gone I’m out of this planet for good.

I don’t know what to do or how to move forward in life with this but I need help at least in the right direction, or knowing what the hell is going on, I need answers. PS I barely made money doing side jobs so I’m not financially in a good place. I’m thinking of doing this cycle again looking for help, but I’m tired, I need a solutions not trails by error. It's up to the reader to tell me what should I do next?