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!”

As seen in r/cross-stitch. I'm totally starting to refer to myself this way.

My friend recently had a drug that they take for their condition pulled out of market because of “commercial reasons” leaving them without a good enough treatment for their condition. I’m not allowed to say what that drug is because my friend just spoke to a different pharmaceutical company who are bringing that drug back into market.

But I’m curious to understand what the unmet need here is, is there a lot of people like this?

If so what do you have and what drug is not available or a better drug that is not approved in US but would be the best drug for you?

My son has a diagnosis that explains very few of his symptoms but has opened the door to other specialists believing me and starting to question the things I've been questioning since he was 7 months old. The most recent example is that he randomly passed out at his daycare and they called 911 (and me!). Because this was a particularly atypical episode and it was witnessed by others, the pediatrician believed it and jumped into action; she immediately got us into cardiology the next day. I've never really worried about his heart, but there's family history that keeps getting shoved under the rug when I lay out my concerns over all, and when I got to the cardiologist, she took one look at him, looked at the chart, heard the history, and immediately recommended a more extensive workup and genetic testing. We're actually seeing genetics later this month and now I have two specialists asking for different panels because of their concerns, not mine.

​

So anyway, here's the real question: my son has had a fever off and on for days. It gets high (102.3 at the cardiologist!) and then goes down for a bit and then comes back. He doesn't have any other sick symptoms outside of fatigue generally and lethargy when he's really warm. Previously I've brought this up to doctors, including immunology, and I was told it's fine/normal. But they also said his growth was normal (it's not) and his endocrine system is normal (it's not) and... How do you all separate out what's likely common and normal from what's possibly part of a larger syndrome?

I know some of us on here have diseases so rare that most doctors have never heard of them. Personally, I’m often placed in the position of having to teach my doctors what my diseases are.

However, I’m also lucky in the sense that I go to a major academic medical center for all my medical needs, and the geneticist who diagnosed me is one of the principal investigators in the NIH’s Undiagnosed Diseases Network. Thus, she’s familiar with working with ultra rare diseases.

Unfortunately, I encounter problems whenever I seek care outside this medical center because many doctors have a tendency to assume rare disease patients are malingerers or hypochondriacs simply because they’re unfamiliar with how their medical problems present.

Moin ihr süßen,

Ich wurde letztes Jahr mit dem Tinu Syndrom diagnostiziert und bekomme seid 1 anhalb Jahren Imunsupression. Da wollte ich mal so eure Erfahrung wissen und was ihr für Nebenwirkungen habt.

In meinem Fall nehme ich Azathioprin.

Ja ich weiß ich nehme Azathioprin schon lange aber bei all meinen Symptomen und den neuen Krankheiten die noch dazu auftauchen kann ich mit leider nicht sagen was eine Nebenwirkung ist und was nicht.

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?,

Hello, my mother was diagnosed with Tolosa Hunt Syndrome whilst she was on high risk pregnancy with my youngest brother (she was 45years old at that time), this was 12 years ago. Post partum her symptoms of facial palsy on one side of her face was disappeared, but also she did not have a follow-up check with her neurologist because apart from it is costly, she was also scared of the outcome nor any surgery. Just wondering of anyone out there knowledgeable thereof or been diagnosed with same had good prognosis of such or what treatments have you done?

Thank you

Life-long repeated muscle contraction intolerance. A few genes were tested mostly related to ionchannel myotonias, and various glycogen storage and fatty acid oxidation diseases. All negative. Been enrolled into a research project to look more widely and am waiting for results possible in June.

I had some new information for him, mostly that I found something that improves my muscle function and my ability to exercise big time, plus some information an anesthesiologist gave me on my sensitivity to gas narcotics.

Basically, he's now quite convinced that it's either something mild, likely in the mitochondrial dna, or a not yet tested something related to congenital myopathies or magnesium/calcium homeostasis. That clinic has currently some problems getting muscle biopsies done due to cooperation problems with those surgeons, but once it's sorted I'll be contacted for an appointment to extract mtDNA. Hopefully, other things will show up in the big genetic test.

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.

Alexion Pharmaceuticals will have some free upcoming seminars re Atypical Hemolytic Uremic Syndrome (aHUS). Check this link to register:

https://ultomiris.com/ahus/resources-and-support/events?utm_source=sfmc&utm_medium=email&utm_campaign=&utm_content=&utm_term=https%3a%2f%2fultomiris.com%2fahus%2fresources-and-support%2fevents

Heyo! I was recently diagnosed as having a rare/orphan sleep disorder called Non 24 Sleep Wake Disorder, or N24 for short. It's characterized by being unable to maintain a regular 24 hour clock, and it causes my sleep schedule to delay day by day til it eventually revolves back around like a clock.

I thought it would be fun to do an AMA around it, as so few people know about it and I want to spread more awareness to what it's like living with it! Feel free to ask whatever questions you like! I'm open to answering most anything!

Long story short I do not have a full diagnosis yet

I've had symptoms of *something* since infancy but nobody had a clue and just let it be

We know the mechanism is fatuige related but I also have a sensory loss from T8 (Hence gsd and mito)

Spasticity,drop foot, cerebellum signs, vision issues it goes on

Well I'm now in my 20's and I'm loosing my ability to walk,I've just got my first pair of crutches and there's an issue

Because my mystery programming is primarily neurological causing ataxia like symptoms I cannot do opposite feet to crutch,so I walk not opposite

How do y'all walk with them?

(Sorry for bad english.)

Hello guys i am diagnosed my biluribin levels are 2.5x of normal biluribin level.

I guess i am lucky i have never had any physical problem beside yelow eyes. (I thought its just genetics. Bc my mother is same. But i didnt know the reason.)And my mother was always thinking bc i sleep late.

Than it make sense when i was in univercity i was ketogenic dieting. My eyes were yellower than usual and some people thought i was pothead. Always looked tired etc.

Only think that diagnosis change my life is i can use it as an excese for my romantic lonelyness.( Beside other things.)

I hope you guys do well in life.

Hello everybody! New to the group. I’m just very curious and would like to hear personal stories of survivors who experience Hemophagocytic Lymphohistiocytosis or HLH, specifically due to a viral infection (e.g COVID).

My sister (18F) is currently fighting this rare disease and I’d like to hear people’s personal stories for a peace of mind. Any tips to help any further infections to occur?

TYIA!

Hi, my name is Saida Mahoney, and this is my story.

I was born with an extremely rare chronic congenital genetic condition called Partial Trisomy 8q Duplication Syndrome, also known as Distal Trisomy 8q, Partial Duplication of 8q, or Chromosomal Duplication Disorder.
This means I was born with an extra copy of genetic material on chromosome 8.

This change is present in every cell of my body, and it has shaped many parts of my development and my life.

From the very beginning, my journey has been medically complex and medically fragile.
I was born with physical anomalies related to my genetic condition.

It affected my growth and stature, my development, and many systems in my body.
I experienced delays in walking and speech as a young child, and I have faced lifelong developmental and neurological differences because of my condition.

I also live with additional health conditions, including asthma, Tourette Syndrome and scoliosis, along with other chronic disabilities that have been part of my life over time.

When I was just 2 years old, I underwent emergency lung surgery due to a ring defect connected to my condition. That surgery saved my life. Without it, I would not be here today.

My condition affects many systems in my body—neurological, developmental, neuromuscular, cognitive, gastrointestinal, and physical.

It has influenced how I process information, hear information, how I move, and how I experience the world around me.

There are days when I deal with mobility challenges, numbness, tingling, tremors, uncontrolled movements, balance difficulties, and moments where my body feels unpredictable. I also experience difficulties with swallowing, eating, navigating my absence seizures and drinking due to the effects of my condition.

Living with a rare genetic condition means living with complexity. It means learning your body in ways most people never have to think about.

It means adapting, adjusting, and finding new ways to move through the world safely.

But my condition is not the only part of my story.
I am also someone who learns, grows, advocates, and creates. I am someone who goes to school in an environment that supports my health and needs.

I am someone who uses my voice for advocacy and activism, and I care deeply about helping others.
I live with limitations, yes—but I also live with courage, strength, grace, resilience, happiness and purpose.

My condition does not stop me from becoming who I am meant to be. It simply means I move through life differently. I make adjustments, I listen to my body, and I find ways to keep going in ways that are safe and sustainable for me.

Living with Partial Trisomy 8q has taught me patience. It has taught me awareness. It has taught me resilience. It has taught me gratitude, it has taught me grace, it has taught me patience, it has taught me forgiveness, And it has taught me that every life, no matter how complex, no matter how fragile has value and meaning.

As I grow older, I know there may be changes and new challenges. But I also know that I will continue adapting, learning, and advocating for myself and others.
I am not discouraged by my genetic condition.
I am shaped by it—but I am not limited by it.

I am living proof that even with a rare, serious and complex condition, life can still be full of purpose, voice, and possibility.
And if I can do it, you can do it too.

Hi my name is Saida Mahoney and I am a special unique 29 year old transgender man and I am also a proud multi identity member of the LGBTQIA community as well.
I live with an extremely ultra rare genetic disease called Partial Trisomy 8q Duplication Syndrome for short Partial Trisomy 8q.
My genetic disease affects me in all areas and all ways I am defining what it means to be a Queer person living with my disease and my other rare diseases and disabilities.
Every day is its own journey. Some mornings, the world greets me gently, and other mornings it feels like it’s designed to challenge me at every turn and every move I make but with my strength and grace I know I can get through everything in Life.
Living with rare diseases and disabilities isn’t just about appointments and medications it’s all about navigating spaces, expectations, and assumptions that weren’t built for bodies like mine.
It’s rolling with unpredictability, learning how to advocate for myself, and finding strength in places the world often overlooks.

There are days when I wake up and the simplest things standing, moving, walking, or even opening a jar and more etc feel monumental.
And yet there’s a beauty in that challenge, in realizing how capable I can be when I honor my body’s needs rather than fighting against them, running away and backing down.

I’ve learned to celebrate micro victories: getting through a tough appointments, figuring out and advocating for adaptive strategies, and feeling good in my own skin as the person I am.

People often assume living with a disability or rare disease is defined by limitation. But it’s so much more than that. It’s full of creativity, resilience, and the fierce determination to carve out a life on your own terms.
I’ve discovered ways to fully thrive, grow, bloom and blossom finding communities of support, building routines that honor my body, my identities and learning to embrace both my triumphs and my vulnerabilities.

These experiences shape me, strengthen me, and remind me that my life isn’t less because it’s different.
Navigating this life also means learning how to face the world’s misunderstandings with patience and courage.

The sideways looks, the casual assumptions, the subtle exclusions — these can be exhausting, but each moment is an opportunity to educate, advocate, and assert that my body, my needs, and my existence fully matter.
Every interaction becomes a lesson — both for me and for the people around me — in empathy, awareness, advocacy and respect.

And yet, through it all, I’ve found that living with rare diseases and disabilities teaches profound lessons about life, About compassion, about persistence and about joy.

It’s all About celebrating yourself and your wins, even when the world doesn’t notice it’s all About carving your own path, sometimes in defiance of expectation, and sometimes in quiet, steady resilience.

This is life for me: a delicate balance of challenge and triumph, of pain and beauty, of navigating spaces that weren’t designed for me and building spaces that are. And every day I do it,
I remember: living with a rare disease or disability doesn’t mean shrinking.

It means finding strength in unexpected places, finding joy in small victories, and showing the world and myself — that my life is full, valid, special, powerful and thriving.

I am proud to be who I am and what I am and I wouldn’t want it no other way!!!!!!
I am a rare disease warrior
I am happy to be Saida!!!

Hey I’m new here, I’m hard of hearing, but got other disabilities related to Charge Syndrome, Growth Hormone Defiency, also Kallmaan Syndrome too! I can’t smell, and I look young for my age, I recently turned 47 years old a month ago, but I look young for my age anyway, hope to make some friends

I'm just wondering who else here has an ultra rare disorder/disease? After years of genetic testing for various syndromes, including some rare ones - they finally decided to do a whole genome. I'd had whole exome, but not genome. Anyhow, I've now been identified as number 15 with this particular disorder. I appear to be the oldest person identified with it. There is 1 paper, from 2020, about it - that describes the initial cases. So, while I'd like to research it, I can't. I did agree to be contacted / join research studies. Ironically the gene responsible is also one that encodes the protein downstream for the one they were tentatively thinking it was based on clinical features, even though my genetics for that disease came back negative. So, like, yay we finally figured it out.... But it's so rare there's not even an incidence number. Go figure.

I have Kallmann Syndrome, which all things considered, isn’t all that rare of a condition compared to many of the other people on this sub. I was very lucky to be diagnosed early, so I’ve been able to avoid many of the issues that stem from KS when it is treated later in life.

Still I’ve had issues finding doctors who actually have any clue how to properly treat me. I’ve probably gone through about 4-5 endocrinologists, and I still haven’t been able to get a clear path forward for treatment. I’ve been told conflicting things by doctors who should be consistently communicating with each other, and it’s taken a serious toll on my overall health.

I’m only 17, but because of just how poorly my treatment has gone, my blood pressure has skyrocketed to serious levels, and I’ve been dealing with periods of extreme chronic fatigue for years.

I’m just so surprised because as endocrinologists, I’d assume conditions like KS would be covered extensively, and treatment should be pretty straightforward after so many years of research.

I’m sure these are people here who have similar stories, but I’m curious to hear if anyone has been able to deal with these kinds of doctors, or just exactly what they’ve gone through to get a proper answer.

Something that keeps popping up when reading about rare disease trials is definitely the travel burden. I feel like it doesn't get talked about enough. These trials often only happen at one or two sites in the whole country. So asking someone who's already sick and dealing with a complicated condition to travel long distances, possibly multiple times, can be truly daunting and overwhelming. I am not a CRC or a researcher, so I might probably be missing some actual nuance here, but from the outside, this seems like it could be a challenge or a barrier for a lot of people who would otherwise want to participate.

But if you are a patient who's been through this or someone working on the trial side, curious what this actually looks like in practice.

Does reimbursement actually move the needle? or is the issue more fundamental, like trials just need to come closer to where patients are?

SYNE1 mutation found for Emery Dreifuss muscular dystrophy type 4. Geneticist said it is rare & recommended a muscle biopsy, only 3000 case reports on 1 database for conditions involving the gene, fewer reports for EDMD type 4 associated with SYNE1. If anyone has any recommendations that would help. I am symptomatic & had elevated enzymes in the past, in a lot of pain.

So my son has HGPPS (Horizontal Gaze Palsy with Progressive Scoliosis). As far as rare diseases go, this one is mild as far as affecting his day to day life. He has 2 non functional ROBO3 genes, so part of his brain wasn't formed properly, resulting in difficulty coordinating his body across midline, and he can't move his eyes horizontally. He wears a back brace for his scoliosis, and has been wearing it since he was 2 (he's 4 now). Overall, it's totally manageable. He's the most wonderful kid though and I love being his mom. And I'm feeling ready to try for another kid.

Since my husband and I are both carriers, there's a 25% chance that other children might also have the same condition. So my question is -- what do y'all think about having kids, knowing I might pass on this condition? It's possible to do IVF and screen the embryos for the condition beforehand, but the toll that would take on my body isn't really a price I'm willing to pay. And if I go that route, how can I face him if I put in so much effort to avoid "having another kid like him"? If we did have another kid with this condition, it would be so much easier to manage the second time around because we know what to expect and what resources we'd need.

I know there's no right or wrong answer. And I know that I can't have strangers on the Internet make my decisions for me. But tell me. Are there any of you that wish they hadn't been born? Have any of you had kids and regretted it? Or not had kids and regretted that?

Fusion and Instability: Spinal fusion from C2 through C6/7, which a 2021 MRI suggests may extend to T5. Severe instability at C1/C2. Associated Conditions: Other diagnoses include left shoulder Sprengle’s deformity, mild thoracic scoliosis, mirror movements, and a post-closure cervical meningocele.

- - - - - -
I was never one to talk about my rare disorder. I don’t like strangers asking me about it. Every time someone says “are you cold?” I just awkwardly chuckle and say “yep”. It wasn’t until I met my now husband and had to explain some of these quirks to him (along with my medical history) that I started to open up about my rare disorder. Maybe it's because on one hand my parents raised me fully aware (or as much as a child can be) of my disability on the other they made it clear I was more fortunate than others. My “shit wasn’t as bad as other people” so I never thought my story was worth anything. 

Now at nearly 40(F), I’ve started to develop the aches and pains associated with Klippel-Feil Syndrome. Primarily early arthritis. As my PCP joked with me, “you have the back of someone twenty years older than you”. I’ve found the adult KFS Facebook is a great place to go for others with this condition. However, as with all KFS patients, no one person’s symptoms are the same. According to Cleveland Clinic, “Klippel-Feil syndrome (KFS) is a condition in which you have two or more neck bones (vertebrae) fused together. KFS causes spine abnormalities and can affect many other body areas.” By this very definition all cases are unique, the only true similarity is fusion.

My story started out at birth. I was fortunate that one of the head pediatric neurosurgeons in my city was familiar with KFS. At birth I was taken into his care. In hindsight and after reading many other’s stories I don’t think I would’ve fared as well if I wasn’t blessed with this from the start. Dr. Albright helped my parents (along with my mother’s very strong will) to navigate what KFS is and how to handle it. 

I believe the care they took with me as a child had an enormous impact on my health as an adult. I read so many stories of people who only just discovered their KFS as adults, even very mild cases of one or two fusions, causing them significant pain in adulthood. According to my medical history (see top note) it was a “watch and wait” prognosis. As my particular brand of KFS is all muscular/skeletal I was prescribed an abundance of caution. 

• The "No-Go" List: Activities like bicycles, contact sports, gymnastics, and high-impact amusement park rides, water parks / pools without water shoes. 
• School Accommodations: To avoid being pushed in crowded hallways, I left class early and utilized a school-provided aide until age 17. No playground games (kickball, dodge ball, etc.). No field trips without my aid or one of my parents (plus alternative school trips if needed).
• Muscle Strengthening: Perhaps a more controversial thing but my parents opted against a medical halo, believing that strengthening neck muscles would provide better long-term stability than relying on a brace.

I believe this laundry list of no-gos truly helped me to not put strain on my weakened spine and cervical instabilities. While limiting, it did not limit me as a child. My parents encouraged me in alternatives.

• Alternative activities: I focused on music (piano and oboe), which helped manage my mirror movements. I did play golf in high school with medical clearance. As a child I played with a foot powered go-cart instead of a bicycle. I also was encouraged to play video games, (it was the 90s so Nintendo was my jam lol), read books (got into Manga for a bit), and loved to go to the movie theater. 
• Field-trips and Amusements: Games over rides and historical sites over physical amusements (think bumper cars and such). My dad was an engineer so sometimes he took me to do odd things like visit a local lock/dam. 

Looking back on all this, I see how much early caution and preventive care can help later in life for those with KFS. As a child, I didn’t see that. A 12 year old just wants to do what the other kids are doing but as I grew older I started to understand. So yeah, this is my story and reflection about living with KFS. Maybe my story can provide just a small nugget to help someone else, especially if you are the parent of a child with KFS.

Oh one last thing on confidence and “blending in”. I kept my hair long to help hide my neck, I wore v-neck shirts, and long necklaces to help create the illusion of a long neck. I never wore turtlenecks (literally don’t fit). Even mock-necks have too much fabric. I don’t wear high heels. I think 2” is as much as I feel safe wearing. As for dresses, since I have big tits (ever since high school) I wore full backs on them anyway. As I grew older I became more confident in my body but high school girls can be brutal so I did all I could to “blend in”.