r/rarediseases

My son was diagnosed with a very rare genetic disease when he was 5 months old. He is our first and only. It took a very long time for me personally to be ready to have kids and then we experienced losses. When I finally got my rainbow baby I am hit with this diagnosis. His disease will affect his motor, speech, and cognitive skills. We do not know what the future looks like for him since this is so rare. On top of this news I am having a hard time day by day just taking care of my beautiful boy. When he cries I can't deal. This may be a sign of post partum depression, or new mom stress, or he's more difficult than most babies, or all the above. When he cries, for what feels like forever lately, I spiral down and think "is this going to be everyday?". I want to comfort him and make him happy but there is no one going through what we are going through to reach out to for advice. If one more person hears our story and tries to relate with "oh my baby was colicky too" I will scream. My poor husband must be tired of taking care of a crying baby and a crying wife. This is me venting but also asking out there for some encouraging words or stories of your special need kids. ❤️

I don’t know about you guys but it drives me nuts. The Facebook group for my condition is so small, and people have no idea what they’re talking about sometimes.

For example, it’s been shown that’s trps1 is expressed in certain cancers so people in the group take it to mean they will get cancer. No. I openly share my geneticists notes about TRPS and cancer specifically, because that was a question I had myself given that my uncle died from myelofibrosis after beating lymphoma and leukemia. My geneticist specifically has said germline mutations of the trps1 gene don’t increase your cancer risk.

And then, they spread it as if it’s fact and freak out other people because they don’t understand context and how to interpret clinical journals.

But on top of that they say other things that aren’t true and it is so annoying because I’ll say “clinical journals don’t support what you’re saying” and honestly, a lot of people in the group aren’t medically savvy. Or I’ll say “that’s not true according to my geneticist”. And my geneticist is a director of a bunch of different programs, she’s brilliant and knows what she is talking about. Yesterday someone posted they have a bacterial skin infection and wanted to know if it’s caused by our condition. It’s not. It’s like people try to attribute every little health problem to this one thing when likely, there are other things going on, on top of having TRPS

My sister is 14 years old with blood group O(−), and for the past 22 days she has been bleeding from her ears, nose, and vomiting blood multiple times a day — and not a single doctor has been able to find the reason why.

It all started on April 16, 2026, when she was at school. She got a headache and lay down on a bench, and suddenly blood started coming out of her right ear. Her school called our parents and she was sent home. We went straight to an ENT specialist, but even after medication the bleeding didn't stop — it happened 3 to 4 more times that same day. We then consulted our family doctor and got a CT scan of the brain, which came back completely normal. By the evening of April 17, blood started coming from her left ear and nose as well.

Since then, we have taken her to Sri Ramachandra Hospital (where she was admitted for 3 days), CMC Vellore, and Apollo Chennai. She has been seen by an ENT, Haematologist, Neurologist, General Paediatrician, and Oncologist — and none of them could find the cause. At CMC Vellore, they performed a bronchoscopy with a camera inside her nose and ears, and the results were normal. But after that procedure, she started vomiting blood, which has now become a daily occurrence and is gradually getting worse.

Right now, the bleeding happens 5 to 6 times every day through her ears, nose, and mouth. During each episode she gets a mild headache and tired that disappears quickly, and otherwise she feels completely normal. The following tests have all come back normal — CT scan of the brain, MRI of the brain and neck, chest X-ray, abdomen scan, bleeding time and clotting time, comprehensive coagulation panel, and a general vitamin panel. Doctors have also specifically ruled out haematohidrosis. Some suggested stress, but she is calm, she is home with family, and she is only 14 years old.

We are completely lost and desperate. If anyone has faced something similar, knows of a rare condition that matches this, or can point us toward a specialist or institution anywhere in the world, please help us. You can reach us directly at yazhupapa123@gmail.com.

Hello. I was diagnosed with Necrotizing Sarcoidosis in August of 2023. I'm hoping to find someone (ANYONE) that shares the diagnosis.

My pulmonologist is amazing, but because NSG is so rare, I would like to find someone to compare notes with about treatment.

I'm in a few FB sarcoid groups, but I can't get any of them to let me post. I've tried several times, but nothing I submit is ever accepted.

Thank you in advance!

Hello. I am a very disease, person myself, but was thinking of creating a podcast called the waiting room. Each episode would tell the story of someone diagnosed where they were disease. Symptoms, frustrations in their road to diagnosis, and treatment if applicable. It would cover everything from my own word, disease journey, with a rare eye disease, to other diseases, such as beer, cancers, genetic syndromes, and rare injury, or survival stories. I am a genetics study student, and we do research on each disease before formulating the podcast episode. Would this be something that you guys would be interested in, and if so, which diseases do you think I should start with?,

Fuck my life.
I’m a 21 year old girl with this fucking disease that is ruining my life. I have about 15% vision and I’m in pain a lot of the time. I was diagnosed at around 18 and there’s no one that can relate or even seem to understand my problems. My vision cant be corrected and there’s no cure. I’ll never be able to drive or have children (I chose not to because there’s a 50% chance for them to inherit it)
I have no education because of the difficulties and I’ve tried working but my eyes seem to get in the way of everything. Other than that fine. I can’t see well but I can see enough so that people don’t notice. I feel like the most blind non blind person ever. It’s like I feel fine and I’m able to do most normal everyday things. Go outside, shopping, hang out with friends and I don’t feel any different until I’m held back by my vision. It’s so hard to explain because most people just ask if I’m nearsighted and I have to explain that it’s not like that and I have small cysts in my eyes 🙄 I can’t explain how I see because I’ve always been this way. All I know is that if you hold up a piece of paper with something on it 1 meter in front of me.. I can’t read it. There’s no data on how many people ln my country that has this because of how rare it is. I was the only person my hospital has ever had with it. I’m just so tired of this and I wish someone could relate

Hi r/rarediseases ,

I'm posting to raise awareness for a rare disease I think has unusual potential to be caught earlier and treated better, but that almost everyone — including most clinicians — doesn't recognize: Familial Hypobetalipoproteinemia (FHBL).

What it is, in plain language

FHBL is a genetic condition (most often caused by APOB gene mutations) that prevents the body from properly producing and packaging cholesterol-carrying particles. People with it have:

• Lifelong abnormally LOW cholesterol (the opposite of what most lipid disorders cause)
• Very low or undetectable apolipoprotein B
• Often unexplained fatty liver disease
• Often fat-soluble vitamin deficiencies (A, D, E, K)
• Sometimes progressive neurological symptoms from cumulative vitamin E deficiency
• A family history that frequently includes unexplained "non-alcoholic" cirrhosis

Heterozygous FHBL affects roughly 1 in 1,000 to 3,000 people. The biallelic form is much rarer. Many heterozygous patients have meaningful disease that has historically been considered asymptomatic by guidelines.

Why it gets missed

This is the part I most want to surface in this community. When a doctor sees extremely low cholesterol in a patient, the default reaction is: "great, no cardiovascular risk, move on." They write a normal note and the patient never learns this is a finding worth investigating.

But FHBL patients have a different risk profile — protected from atherosclerotic heart disease, but vulnerable to:

• Cumulative liver damage (steatosis → NASH → fibrosis → cirrhosis → liver cancer)
• Vitamin E deficiency neuropathy and myopathy that can be misdiagnosed as fibromyalgia or functional disorders
• Family clusters where multiple relatives have unexplained "non-alcoholic" cirrhosis or mystery liver issues

The 2025 published literature now documents 4 to 8 times the general population risk for cirrhosis and primary liver cancer in patients with this profile, independent of obesity, alcohol, or hepatitis. Most primary care providers haven't caught up to that yet.

My story, briefly

I'm 38. I had unexplained NAFLD diagnosed at age 23 while active-duty military, with normal BMI, exercising daily, no alcohol use. Nobody could figure out why. My paternal aunt died at 63 of "non-alcoholic cirrhosis" — also no clinical explanation found. My father has lifelong unusually low cholesterol that has never been investigated.

A nurse caught my low cholesterol incidentally during a strep visit in 2017 and said "you should look into this." I went home, researched, found FHBL, and got diagnosed in 2020. I started r/fhbl that same year because there was nowhere for FHBL patients to find each other. For most of the past five years, I was the only member of my own subreddit.

I'm finally posting publicly because new literature plus my own renewed work give us much more to share.

What I'm asking

• If you have FHBL or suspect you might, please come find us at r/fhbl. We're rebuilding the community.
• If someone in your family has unexplained low cholesterol that nobody's investigated, consider whether FHBL might be hiding there. The diagnostic biomarker (apolipoprotein B) is a single inexpensive blood test.
• If you have unexplained NAFLD, fat-soluble vitamin deficiencies, or progressive neurologic symptomsalongside low LDL, pursue genetic testing. This community already knows that aggressive self-advocacy is often the only path to diagnosis.
• If you know someone in healthcare or research with an interest in inherited dyslipidemia, please share this. FHBL needs more clinical visibility.

Thanks for reading. Solidarity to everyone in this community navigating your own rare disease journey. The work you all do to find each other and support each other is genuinely meaningful.

— Bill (r/fhbl founder)

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.

Urgently requesting guidance / assistance for my 14-year-old daughter, who has been diagnosed with cystic fibrosis since the age of 6. We live in Jamaica, where there is currently no specialized cystic fibrosis care available.

There is very little care for her condition as it's not a popular condition. Because if this there are no medications for CF available in Jamaica, although the doctors try their best, they are just not equipped. It has been a challenge to even get her digestive enzymes. I'm so confused and feel so alone. I have no source of information outside of this group for first-hand knowledge on how to tackle the different issues she has.

At this time, my daughter is hospitalized with a severe chest infection and low oxygen levels. Her condition has significantly worsened, and she has also developed scoliosis as a complication of her illness. In addition, she has experienced significant weight loss, which is very concerning.

Her current treatment is extremely limited and includes Ventolin (salbutamol), albuterol inhalers, and Bromhexine. She is currently on antibiotics and oxygen therapy.

She does not have consistent access to a nebulizer or specialized therapies commonly used in cystic fibrosis care. Follow-up care is also very limited, with clinic visits only every six months.

I am deeply concerned that without access to proper cystic fibrosis management—including appropriate medications, airway clearance support, nutritional guidance, and specialist oversight—her condition will continue to deteriorate.

I am reaching out to respectfully request any assistance, including:

Guidance on accessing appropriate cystic fibrosis care

Support in obtaining essential medications or equipment (such as a nebulizer)

Connection to specialists (including telemedicine options)

Information on any programs available for patients in countries with limited CF resources

I am willing to provide any additional medical records or documentation required.

Hello!

Looking to connect to people with Familial Mediterranean Fever. I’ve had quite a long journey to getting diagnosed a few months ago (~20 years of fighting for any referral since childhood) and am starting to bubble over with questions about how it might affect me in the long run. I am a medical student so have read a few papers, but they’re rarely a substitute for speaking to actual humans with actual experiences and I’d be keen to know how things have bee for others out there. My GP hadn’t even heard of the condition, and I’m only the fourth patient my rheumatologist has on their list.

I’ve got quite an atypical picture (compound heterozygous rather than autosomal recessive and symptoms mainly joint related and pleuritic pain during attacks). I had gotten to the point of constant, pretty severe pain and was questioning whether a career in medicine would even be feasible, and whether I’d be able to e.g. maintain a pregnancy/raise children in the future. My amyloid is quite raised but hoping that will be under control now I’m on the meds and that I don’t develop kidney problems.

TIA for any links!

I thought that once I got my diagnosis of TRPS, that was going to be the end of it. Case closed, mystery solved.

My son was tested last winter and was positive so I knew he had inherited it from me. Okay great. It was an answer. I even read in clinical journals that TRPS predisposes you to respiratory infections. So that made sense to me, as I get sick all the time and have had repeat bouts of sepsis, costochondritis, sepsis (different causes), pericarditis, cellulitis (different causes) etc.

Then in June I had a right PCA stroke due to a blood clot and it was labeled cryptogenic. I had a week of tests and everything was normal. So, no high blood pressure (it is controlled well), no avm, no, pfo, no aps, nothing.

In July, I had a formal appointment with my geneticist and went over my history. She said something else is going on given that my family members and I have had multiple bouts of sepsis etc and we are breaking into rashes and having random allergic reactions to things etc (she is both a clinical geneticist and director of a rare disease center and director of an immunity and blood clinic). and because I had VUR related to TRPS I was always on antibiotics anyways as a kid.
In July, I had a bunch of blood work done which showed a low cd19 count and elevated il-2r, il-8, and il-10. But the rest of the counts and tests were normal like the iga, igm, ige levels and mitogen panel.

at the end of January, I woke up with severe abdominal pain at 2:30 followed by vomiting and diarrhea and an ambulance was called 2 hrs later because the pain was so bad (never had pain that bad). Ct scan was done and I had an anaphylactic reaction to contrast, and it was terrible. My throat closed up within two minutes of the medication being administered, and my chest was hurting. My lactate was 7.6, my wbc was 14k something , and my pct level was .19 and my bp 74/41 so the doctor admitted me for sepsis. A gi panel was done and negative so they said it was viral gastroenteritis (unknown as to which one) and I was able to go home after a few days. Right before this, I had a little bit of a sore throat and an ulcer in my mouth so I had figured I was getting sick but my throat got better and then a few days later the sepsis happened.

Now I am sick again because a nurse was sick and gave it to me, and I’ve been sick for two weeks and also had costochondritis that started right as I was getting sick.

I was also supposed to have a follow up but then the GC left without warning and no communication so my request for an appt went unanswered until my geneticist contacted me two days ago.

The plan is to do wgs with mito dna testing, specifically trio testing and then reflex testing if wgs is negative. But there’s what…only a 40 percent chance that I’ll even find an answer if there’s a genetic basis. Apparently this was the plan months ago but the GC took a lot of paperwork with her so a lot of it got lost.

Anyways, I’m hoping someone can relate to having to under go multiple odysseys and understands the frustration of it all.

I am not asking for a diagnosis. There’s a plan in place. It’s more about the fact that I thought my rare disease diagnosis was going to be the answer to everything and it was not.

Hello Everyone!

I recently found out I have Danon Disease.🫀

After years of heart issues, surgeries, heart failure, and eventually a heart transplant, I finally have an answer for why this happened.

Danon Disease is a rare genetic disorder that mainly affects the heart and muscles. I had never even heard of it before my diagnosis.

Honestly, I’m still processing it all. Part of me feels relieved to finally have clarity, while another part feels overwhelmed knowing it’s genetic and so rare.

Just wanted to share this because rare diseases can feel incredibly isolating, and maybe someone else out there is searching for answers too.

Rare doesn’t mean invisible.

For some reason, we have had a huge uptick in fundraisers people are attempting to post over the past week. Just a heads up, this is always against the rules, but I have started handing out bans as well as removing the posts. If you see someone posting a fundraising link, feel free to report it (though I am pretty good about catching them anyway)

Hi fellow rarities!

I was just diagnosed with this super rare disease. I live in Ohio and thankfully found a specialist @ Cleveland Clinic. It has been a troublesome year due to this disease and I'm missing my right colon because of it. Of course, I have the extra-nodal type. So, what is it?

It is a proliferation of a type of white blood cells, called histiocytes, that abnormally cluster together, causing the large histiocytes to engulf lymphocytes, leaving the lymphocytes fully intact (so not a macrophage). Supposedly painless and benign. Not so in my case.

I've been in pain for a year, constant diarrhea, a hemicolectomy (from the masses abutting my colon, causing necrosis), a slew of doctors wondering why I have masses on my scans, a lot of explaining, and unable to work consistently as I'm an RN and can't adequately do my job with this pain and frequent bathroom trips. My most recent scan shows a new mass that is rapidly growing behind stomach (from January to May, it is now the size of a lime).

Treatment: Mekinist 1mg. Not started yet, since it is a specialty drug being shipped to me. Cautiously optimistic that this will shrink the mass and I won't lose any more body parts!

#Stay hopeful

Edit: Apologies if this breaks a rule, I will delete if that's the case. At this point, I genuinely don't know if an accurate diagnosis even exists.

Hello, I'm a little hesitant to post here as my official diagnosis is NOT rare but my symptoms and response to medication goes against the expected response to type 2 diabetes. My presentation is abnormal enough that my GP referred me to an endocrinologist where I was tested for MODY. I was tested for 14 (or 17, can't remember the exact number) genes which all came back negative. Notably, the report didn't include any variants of unidentified significance (VUS) which at this point I suspect may be what my case is.

I have a strong family history of diabetes on my mother's side. Everyone who was diagnosed was labelled type 2, at a low or normal weight. I'm the only person who was diagnosed when overweight. My mother is the only person I've been able to get direct information from and our presentation mostly matches up.

Reactive hypoglycemia has been the first symptom and is still the strongest and most persistent one. Having pure carb causes a rapid spike and drop, so that I start getting hypos 2-4 hours after eating. I also can't eat much in 1 sitting without spiking, but if I space out the same amount of food over time, my glucose levels stay level or only rise a little. This happens regardless of if I'm taking medication or not.

My timeline:

- diagnosed with T2D at 24/25, put on metformin, overweight

- lost 12-15 kg over the next 6 years, metformin dosage continuously increased until it stopped working

- put on ozempic + metformin, lost another ~10 kg over the course of 1 year (reached healthy weight range, GP starts expressing concerns about not needing me to lose more), hba1c levels improved dramatically from around 8 to 5.7

- gradually started noticing increased exhaustion, losing ability to focus/concentrate for longer stretches of time (normal 6-8 hr study days became 3-4 hrs if lucky)

- tried a CGM for the first time and noticing multiple hypos a day (to follow up with finger pricks next time I can get a CGM), very fast drops in blood sugar (post-meal spikes dropping to pre-meal levels within 1 hr)

The first thing I did was talk to my GP and reduce my medication as the simplest explanation I could find was that my dosage was just too high. Then I started looking more into what metformin and ozempic actually do.

Metformin is usually given to treat insulin resistance (IR) by making cells more sensitive to insulin. IR is also linked to excess fat, aka being overweight. If I'm understanding it right, that means losing even just a bit of weight is supposed to help reduce IR by increasing insulin sensitivity, therefore needing less metformin. Since I lost more weight before ozempic than on it, but still was given more metformin, I *think* that points away from IR being my biggest issue.

The biggest change in my hba1c was definitely on ozempic. Since the main difference between it and metformin is that ozempic increases insulin production, I *think* that points at an issue in insulin production.

Paired with my reactive hypoglycemia + food portion reaction, I *think* that points at delayed or impaired insulin release. I'm about to start getting more testing done, but it will take a few weeks. In the mean time, I'd love to know if anyone has had similar experiences, diagnosed or not. It would help me feel less alone and not like I'm crazy.

He was excited and wanted to experiment on me and tried all sorts of methods and injections and burned nerves and eventually he just gave up and just continued giving me painkillers which do nothing for my back. I don't know if anyone else here has baastrop's disease, but it would really be helpful for me to get some insight so I don't feel alone.

I'm in and out of the hospital constantly and I have to use a walker because I can't stand long periods of time and it's frustrating because the pain is so bad sometimes that I can't even get out of bed some mornings. Is there anyone that can relate to this?

Edit.

I wanted to add that after they burned my nerves off in my back I started experiencing severe nerve pain in my left leg. It's a stabbing, stretching pain that doesn't go away and it doesn't matter how I sit it's constant. It didn't start til I got the nerves in my back burned off. And now the doctor wants nothing to do with me. I was discharged from their office. They wouldn't even refill my gabapentin.

My rheumatologist has been working with me to find some diagnostic answers and I just got some bloodwork back—with comments suggesting specific tests.. I’ve had a lot of bloodwork done in my medical history but that is a first for me. Has anyone else experienced that? I’m curious if it’s standard procedure for the specific test or if they saw something on their end that would prompt them to continue testing.

Specifically test done was: GAD65 NEUROLOGICAL SYNDROME AB TEST

Recommended: anti-Hu, anti-Yo, anti-Zic4, anti-CV2, anti-Ma1, anti-Ta, anti-Ri, anti-Recoverin, anti-VGCC, anti-VGKC, anti-Amphiphysin, anti-G-AChR, anti-NMDA, anti-LGI1, and anti-CASPR2.

I’ve been struggling with seizures, unintended weight loss, persistent headaches, persistent leg spasms, chest pain, difficulty breathing, heart palpitations, blood pressure fluctuations, and probably more I can’t think of cause of brain fog. I have hEDS, just got diagnosed with nutcracker syndrome, dystonia, MCAS, and narcolepsy. I just went to the ER via ambulance Sunday because of seizures and then I couldn’t move my body—my potassium and other electrolyte levels were low.

I’m so frustrated and tired.