As it is a genetic decease, i HAVE TO take medicine every 6 months.

I am new here, Budapest and having so much trouble find a Dr who knows this decease and can prescribe medicines I need. Any idea?

Please help me. This is a fatal issue...I already tried Semmelweis University, which should be expert of rare decease. They even did not know this decease existence.....

DeSease info: https://en.wikipedia.org/wiki/Muckle%E2%80%93Wells_syndrome#:~:text=Muckle%E2%80%93Wells%20syndrome%20(MWS),type%20of%20periodic%20fever%20syndrome.

Hi everyone,

Yesterday we got the devastating news that our 13 year old daughter has the very rare PXE. Unfortunately there is no cure yet so her future health depends on research, which requires funding. Because it is so rare, there is hardly any funding. Do you have any ideas how we can help bring around 200k euro to the foundation in the Netherlands so they can continue the research? Many thanks for thinking along… 🙏

Hello to everyone!

Our son turned one just ten days ago. His journey so far has been anything but ordinary, but he continues to amaze us with his strength.

At four months old, he experienced a brain hemorrhage due to vitamin K deficiency and an arteriovenous malformation. He underwent surgery to remove the malformation successfully and spent a few days in intensive care, followed by a month in the children’s hospital for monitoring and tests. Thankfully, he fully recovered from the hemorrhage, but for months, we had no clear answers about why it had happened.

In October, after a long period of uncertainty, we finally received a diagnosis: PFIC-3, a rare liver disease for which the only definitive treatment is a liver transplant. Since then, we have been managing his condition while learning as much as we can about available treatments.

A few days ago, we started Bylvay after waiting months for it to arrive on our island. Since then, he has had diarrhea and possible abdominal discomfort, which we are monitoring closely. As he is still too young to express how he feels, we are doing our best to interpret his reactions. The active ingredient in Bylvay is odevixibat, and we would love to hear from other parents who have experience with this medication.

Is there anyone here with a child who has PFIC? We have PFIC-3, but we would love to connect with families dealing with any type, as there is very little awareness of this condition in our country.

Soon, we will be traveling to the capital for his routine liver elastography, vitamin level checks, and blood clotting tests. Since this disease affects vitamin absorption and can increase the risk of bleeding, we monitor his platelets and coagulation levels regularly to prevent any complications.

Also, if anyone is willing to support us, our link is in my profile. These are challenging times, and every bit of help means a lot.

If you are a parent dealing with PFIC, please reach out in the comments. We would love to hear from you and share experiences.

Thank you for taking the time to read our story!

Im 20 weeks pregnant with my first and I was diagnosed with klippel feil when I was a baby, doctors always encourage me to live a normal life, besides having a short neck and some mild scoliosis I live a very normal life. I’m just looking to see if anyone here has kids with this syndrome that was inherited by you or your partner or know about someone’s case. Since it’s a pretty rare syndrome doctors can’t give me an answer if my baby will have it or not and maybe we won’t even know after the birth. Thanks! And I appreciate any insights 🙏

Hello everyone! My name is Lumi and I wanted to share some information about an advanced metastatic cancer clinical trial that my team, Leapcure, is currently working on. This trial is testing a new investigational drug to see if it could potentially alleviate symptoms and improve quality of life for advanced liver cancer patients in Australia.

If you’re curious about participating, click the link below to learn more and get connected with someone on the Leapcure team, who will chat with you to answer any questions and help you figure out your eligibility. https://lpcur.com/CancerStudyFAQSheet

when I was younger, I was playing in the snow and I came out full of hives ! That’s how we found out I had cold urticaria, since then it has not gone away ! Anything cold related on the outside of my skin such as cold, wind, water, snow and ice will cause a reaction kind of like a heat rash ? My doctor and me have never went into it since then, mind you I was a child so i didn’t have much questions. All I was told is to take Benadryl and that doesn’t even stop the hives , if I’m cold enough, they will start to itch and kind of burn I would say ! I found out also at some point I can go into shock lol ! I just wanna know how many people out there have this :) or have you even heard of it because when I say that I’m allergic to the cold people look at me like I’m crazy .🤣

Hi guys! I f(22) will possibly be diagnosed with CAH. My endocrinologist is pretty certain I have it but we are just waiting for the final results. I have all the telling symptoms and have been at a loss for the last year + about living with them. It makes me relieved knowing that I could finally have an answer and possibly a solution.

I wanted to know from women with CAH, what changes did you notice in yourself, mentally and physically after being on the medication?

Hello everyone! My name is Lumi and I wanted to share some information about an advanced liver cancer clinical trial that my team, Leapcure, is currently working on. This trial is testing a new investigational drug to see if it could potentially alleviate symptoms and improve quality of life for advanced liver cancer patients in Australia.

If you’re curious about participating, click the link below to learn more and get connected with someone on the Leapcure team, who will chat with you to answer any questions and help you figure out your eligibility. https://lpcur.com/CancerStudyFAQSheet

I did not write this post. I found this in the Mod Queue, having been automatically deleted by Reddit's standard automod. Now, at a glance, this post has three external links, and Reddit does not like that. Short post, from a user who as far as I can see has never posted before, and all those links? Yeah, that could trip the automod. So I manually approved it, no big deal. Except that this post will not post.

As far as I can see, it violates no rules of our sub or of Reddit at large. The user does not appear to me to have been banned or shadowbanned or anything else. If Reddit has a reason for this, they are not letting me know. The links go where they say they go, no malware shenanigans or anything. The links are to very mainstream, reputable sites. And yet, I cannot manually approve this post. Maybe it's a database error, I really do not know. So, copy-and-paste is the best I can do here.

The post in question:

For probably obvious reasons, rare disease research rarely attracts commercial attention, so NIH funding is 100% critical to making progress. But yesterday the NIH halted all new grant review: "Meetings to review grant proposals submitted to the National Institutes of Health were scrubbed."

NIH funds research in every state.

The cost of even brief pauses in research is measured in human lives. And once stopped, research into the rare disease you care about may not start again. If this is important, your representatives need to hear from you: https://www.house.gov/representatives/find-your-representative

So recently i found out i have really low copper in blood and a little lower celuroplamin in it,im going to do the copper in 24h urine test but do my eyes have the Kayser-Fleischer ring ? i see a slight copper colored contour in some areas and im scared for wilsons

https://ibb.co/3S2SNTL https://ibb.co/KmwKtMV

Hi Reddit,

I’m reaching out to see if anyone here or in their family experiences a hereditary chin tremor or what might be known as geniospasm. It seems to run in my family—my father has it, I have it, two of my siblings have it, and now I’ve noticed it in my 7-month-old child and my nephew.

It's reported that ONLY 23 families in the world has it, but I doubt my family was counted. LOL

What It’s Like:

The tremor is localized to the chin area (not the hands, head, or other parts).

It’s involuntary, almost like a pulsing or rhythmic shaking.

It happens sometimes when I’m at rest, feeling nervous, excited, or even after physical exertion (e.g., after sex).

For some family members, it’s triggered by emotions or fatigue.

Why I’m Posting:

This seems to be a rare condition, and I haven’t found much information beyond references to benign familial chin tremor or geniospasm. I’m wondering if:

You or someone in your family has experienced something similar.

There are any long-term health risks or conditions associated with this (e.g., increased risk of Parkinson’s or other neurological issues).

You’ve connected with a community or support group for something like this.

Let’s Connect:

I’d love to hear from anyone who can relate to this or has insights. How does it affect you or your family? Have you seen it improve, worsen, or change over time?

If you’ve seen a neurologist or genetic counselor for it, I’d also appreciate any advice or resources you could share.

Thanks in advance for reading and sharing your experiences—it’s comforting to know we’re not alone in this!

Hi everyone! I'm unsure if this is the right sub reddit to post haha but here it goes!
I am seeing somebody who has Wilsons Disease, a rare genetic disorder that causes copper to build up in the body, damaging the liver, brain, eyes, and other organs. This means he can't eat foods high in copper.

Here comes my dilemma, I love to cook for the people around me and he has issues eating enough food (since his options aren't so easy as just grabbing something to eat and he's busy) so it's important for me to be able to take care of him. I want to be able to make meals that are satisfying and that are enjoyable for him instead of settling, and since his diagnosis it has been difficult for him since so much of the food he used to eat he no longer can. (He's chinese and LOVES chinese/asian food which often has pork) So, here's where I ask for your help reddit!

If anybody has any ideas of any meal ideas (For lunch, dinner, breakfast since the site I linked has some snack ideas) or cuisines/substitutes in particular in asian food that would be safe for him I would LOVE to hear!
https://wilsondisease.org/living-with-wilson-disease/copper-conscious-eating/ I am mostly relying on this website about Wilsons disease to see what foods are safe/unsafe. Low copper is preferred. Medium copper occasionally and high copper is a no no (especially things that are starred)

Thanks so much for any advice/help :)

Someone who has the disease could report the symptoms and treatment they are taking.

I don't want people telling me that it'll get better, or it is what it is, there is no cure for Fibrous Dysplasia (your bones can turn into bits of scar tissue and are easier to fracture). I already understand that it is what it is. but God does it suck knowing that I'll have it forever. I was recently diagnosed by my jaw surgeon and I get to talk about this with my doctor in a couple of days. anyone I talk about this to doesn't really understand or know what to say, which is understandable because it's extremely rare and they don't know anything about it. but I don't want anyone telling me how to cope when they don't have it themselves... "It is what it is." yeah, I get it, you don't have to tell me twice.

frustration is part of the process, and I'm very frustrated tonight

Hey, I'm a medical student who is trying to put together an event to raise awareness about rare diseases next month. I truly believe that putting the patient first and understanding the human behind the rare disease and their needs and desires is so much more important than plain research. So as the title says, basically what is one thing you'd want medical students to know about rare diseases? This can be based on an experience you've had, something you wish was different about the medical field, diagnosis process, etc. I know that rare diseases is a big umbrella term as they are all so different, so just write whatever is relevant to your situation/disease.

I can't believe I need to write this, but three different people have tried to post photos of their genitals here in the last month or two. To those people, I say: what do you think you are doing? There are kids here. We are not a NSFW sub. Kids have rare diseases, too. You probably do not have a rare disease, you have a not-so-rare disease, you just need to go and actually talk to your doctor about it.

We cannot diagnose you. Even if we could, we cannot wave a magic wand and solve your problem. All roads lead to *talk to your doctor about this already.* I assure you, your doctor has seen worse. You do not need to know what specialist to see, you just need to talk to your normal doctor and they will send you to a specialist, if needed. If you do not know who else to talk to, maybe try Urgent Care.

Since Reddit's automod has even less tolerance of this than I do, your photos are not posting anyway, the automod just makes them vanish down a dark hole that only mods can see, if they happen to look at the logs, and even then the automod politely hides the photos and tells us it removed your posting as suspected sexual content.

To sum up, you are violating Rules 2, 7, and general common sense. Close Reddit and make an appointment with your doctor.

my ears sweat inside or get wet when i chew food, only if i have food in my mouth, or water or soda. doctor said he didn't know i guess it started to happen after i cured from covid anyone knows anything? when i wake up my ears sweat as well, during sleeping i mean

Short story is: I am the proband in my family and we have had four generations of very specific symptoms and facial features. Hair that never grows, hair that falls out early (most of us are bald in our 20s), typical fancies, etc

My son has had problems like short stature, facial dysmorphia and the same symptoms as the rest of my family.

Grandma: affected

Her kids: 3/5 affected

My mom’s kids : 2/3 affected

My kid: affected

(When I say affected I mean someone who has all the facial features and clinical symptoms like deviated fingers, early osteoarthritis, hyper mobility, rackets thumbs and toes and every other manifestation including me with VUR And cardiac issues)

Diagnosis: most likely TRPS with face2gene also showing an exact, perfect match.

My son is going to the endo in March and a bone age study is going to be definitive. Delayed bone age and cone shaped epiphyses are hallmarks of the disease.

Genetics appointment is in summer but that’s okay because by then I’ll have the bone age study. Genetics is really just to confirm the diagnosis and find out what mutation it is.

Hi! sorry for bother. In 2024 I started out of nowhere with symptoms of great fatigue when walking but nothing more. In October I started with a lot of dry cough and they did a CT scan where they discovered centrilobular nodules in the shape of a tree. My doctor told me that it was “viral bronchitis” but I have had high eusinophilia for months and also inflamed turbinates and new allergies that I didn’t have before. I had it but what scares me the most are the nodules. my eusinophiles are at 670 for months and my ige at 1490. could egpa become a possibility? The doctors don’t listen to me.

I'm very scared.

Been in diagnosing hell for years now but my tests are apparently pointing towards a genetic metabolic disorder. I'm extremely lonely and isolated. Even with some family that understands I have this thing, they still don't always understand how it affects me 24/7 and I feel like a clinical lab rat to some of the top specialists, who are intrigued but also so effing tired of me already and my complaints. The depression that comes with this is absolute hell... I have tried chronic illness support groups but I'm willing to try again, especially if there are any for rare diseases specifically. Does anyone know where to go? I have abled bodied friends who are lovely but lately they don't get why I can't get out of the house.

if it helps, it's a rare type of porphyria, the orgs I find online haven't replied back via email :/

Hi everyone!

When I was pregnant, my husband and I found out after doing the carrier screening tests that we both carried a recessive gene for Wilson’s Disease, which meant that our son had a 25% chance of being born with Wilson’s. With those odds, and learning from the genetic counselor that Wilson’s was treatable and could be managed with medication, we proceeded with the pregnancy and chose not to risk miscarriage by having a CVS/amnio. After he was born, we found out that he has Wilson’s via a blood test.

Our son is 2 years old now and has been seeing the wonderful doctors at Yale since he was 6 months old, where they have a program dedicated to monitoring and treating Wilson’s, and they also started the Wilson’s Disease Registry and are compiling data for research. We found out about the registry through the Wilson’s Disease Association.

So far he has no symptoms of Wilson’s, thankfully, and we see our Yale doctors every 6 months for monitoring in case anything comes up. They think he will probably start taking medicine around age 2.5/3 years old.

I’ve read extensively about Wilson’s disease patients who find out about their disease later in life (ages 14+) but I haven’t been able to find much information about what the patient’s experience is when it is diagnosed as early as it can now be with carrier screening followed by testing the embryo/fetus/baby.

My question is - for parents who knew their child had Wilson’s from birth or soon after birth, what has your/your child’s experience been like? Have they had any symptoms and if so, what were they and when did they start? Did anyone start medication before symptoms started and has that kept symptoms at bay? Which medications were they prescribed? Did monitoring catch any issues before you saw physical or psychological symptoms? How strictly do you follow a low-copper diet - do you cut out chocolate and shellfish completely or allow it once in a while? The diet guidance we’ve gotten (from several different dieticians) has been pretty inconsistent - some say chocolate/shellfish is fine one time per week, some say two times per month, and some say never.

Thank you in advance!

TLDR: My son has Wilson’s Disease. At 2 years old, he's symptom-free, but we’re curious about the experiences of parents with children diagnosed early. Specifically, how early (if at all) symptoms appeared, the effectiveness of early medication, and how you’ve implemented a low-copper diet. Would love to hear from those with firsthand experience.

FDA-NIH Rare Disease Day 2025 will be held at NIH Main Campus (Natcher Conference Center) on Thursday, Feb. 27, 2025 and Friday Feb. 28, 2025, from 10 a.m. to 4 p.m. EST. The event will feature panel discussions, rare diseases stories, in-person exhibitors and scientific posters, and an art exhibition. The event is free and open to the public. 

Hello.

I’m reaching out because I feel like my friend's younger sister needs help, and I’m doing everything I can to support her. She’s been dealing with a set of mysterious symptoms for a while now, and it’s been really hard for her and her family. Not only is she dealing with the physical toll of these symptoms, but the medical bills are starting to stack up.

To give you some context, here are the symptoms she’s experiencing according to my friend :

Kyphoscoliosis

Astigmatism

Leg weakness with noticeable leg atrophy

Acanthosis nigracans

Little to no sweat

Truncal obesity

Sensitivity to loud noises

Strong-smelling urine

She’s been to several doctors, and one of them diagnosed her with Spinal Epidural Lipomatosis (SEL), a rare condition where there’s an abnormal fat buildup in the epidural space of the spine, which can compress the spinal cord and cause nerve-related symptoms. However, other doctors believe the evidence for SEL is too weak, and they’re not sure if it’s the right diagnosis. It’s been a bit of a mystery, and no one seems to have a clear answer.

I just want to reach out to people who might have experience with these symptoms or even with SEL or similar conditions. Does anyone know of any other diagnoses that could match this combination of symptoms? Or any advice on how to navigate medical uncertainty like this?

I also wanted to ask if anyone has gone through something similar and found any resources or support that helped with the medical costs and treatment. Any guidance on how to approach this would be greatly appreciated, especially as they’re really struggling with the financial side of things right now.

Thank you so much for reading, and any help or advice would mean the world to me and to my friend and her sister.

Anyone have this? Looking to see if anyone has had this and how it impacts their life. Cannot find anyone on the Internet that has posted about it.

so i'm a 20 year old girl who got diagnosed with CCUS (clonal cytopenia of unknown significance) and PNH. I just got ATG therapy (they pumped me full of horse antibodies to kill all my t cells) right before christmas to treat it. i've been on cyclosporine since i started the treatment and ive been kinda struggling with the side effects. it seems so dumb since this doesn't impact my health at all. but its causing excessive hair growth. i'm getting a mustache and beard. the hair on my temples wants to connect to my eyebrows. and it's so embarrassing. i shave it but i have a stubble. and if anyone has had to deal with something similar or has any tips on how to deal with it i would love to hear it.

I take lamotragine 300mg twice a day and have been for about a year now. Previously I was on 350mg twice a day for about 7 years. I accidentally double dosed my 300mg this morning, am I at risk for SJS? Should I call my neurologist? or is SJS just for when you start a new medication?

Thank you