#rare disease day

[wheelie-sick]

Happy rare disease day!

-> let's talk about lupus 💜🦋

lupus is sometimes referred to as "the most common rare disease" because it sits right on the line of the definition of rare. regardless, it's definitely true that people with lupus are hard to come by. we're lucky to have thriving online communities on some platforms (not Tumblr, RIP) but offline communities and support groups are few and far between.

lupus is an autoimmune connective tissue disorder named after... wolves, for some reason? there's a lot of debate over why someone several centuries ago decided wolves would represent us well.

there are several types of lupus but the most common is systemic lupus erythematous (SLE), when people are referring to lupus they are almost always referring to this type of lupus. this is the type of lupus I have and the type I know most about so this is the type I'll be discussing in this post.

The basics

lupus is an autoimmune disease that attacks all tissues in your body. yes, all. it can go after any form of soft tissue and even includes your brain and parts of your bones within its reach. this makes lupus a very hard to pin down disease because it can look like anything. I've heard it referred to as "the great imitator" which I think is an excellent title.

with that said, some targets are more common than others.

The symptoms

like the previous section implied there are thousands of presentations of lupus. just about everything has been recorded in association with lupus. my best friend once joked "I bet lupus doesn't cause gangrene" but a case study disagrees.

The lupus foundation of America has excellent resources on some of the most common effects on different body systems. they are by no means comprehensive but they give a good gist of symptoms

some of the key symptoms:

fatigue

joint pain & swelling, arthritis

severe, persistent headaches that don't respond narcotic analgesics

fevers

sensitivity to UV light (UV triggers symptoms)

the butterfly rash (a red, painless rash across your cheeks and the bridge of your nose- sometimes your chin as well)

hair loss

mouth ulcers (typically with a white ring around them)

Raynaud's phenomenon

-> having these symptoms does not automatically mean you have lupus. please do more research before self diagnosing 🙏 if you think you have lupus I would strongly recommend seeing a doctor ASAP! lupus can go from fine to dead in a matter of minutes. <-

Death by lupus

lupus survival odds have increased substantially in the last 20 years but the disease remains incredibly dangerous- particularly to those of us with severe or refractory (non/under responsive to treatment) versions of it. the younger someone develops lupus, the more likely they are to have a severe presentation of the disease.

in particular, children with the disease (under 10) have very low survival odds.

lupus can kill in an almost infinite number of ways. lupus is capable of killing quickly with blood clots, strokes, pulmonary embolisms, heart attacks, and much more. lupus is also capable of killing slowly through lupus nephritis.

lupus nephritis is present in about 40% of people with lupus. lupus nephritis is a kidney disease causing kidney inflammation. it is highly destructive and often leads people to kidney dialysis, kidney transplant, and death by kidney failure. developing lupus nephritis drops your survival rates significantly.

Treatment

lupus is treatable for most people! the most common treatments include immunosuppressants, steroids, and anti-malarials.

many, if not most, people with lupus are immunocompromised. (which is why it's always good to wear a mask)

while refractory lupus does exist, most people with it are able to get their disease under control.

[kirby-the-gorb]

a couple people coincidentally reblogged my rare disease day post from [last year] so. here's how that's been going. (some of this is repeat info if you click the link)

I have mast cell activation syndrome (or MCAS), an immune disorder in which my signaling cells are way too jumpy and can trigger all kinds of symptoms (up to and including anaphylaxis) in response to seemingly harmless stimuli. this is distinct from allergies as whether or not I react to a trigger can change from day to day based on how many other triggers are present, and the chemical mediators released cover a broader spectrum than just the IgE release in a classical allergic reaction. plus oftentimes symptoms are a mix of episodic and chronic, rather than being acute episodes like allergies.

triggers can be commonly understood things like certain food ingredients or scent chemicals, but can also include things like hormone fluctuations, physical or mental exertion, and the sun. I have reacted to ginger, laundry detergent, and a natural gas furnace, for example. I also do a lot worse in summer because it is both sunny and warm, and I always have to be very careful how much energy I use up or I might trigger anaphylaxis.

it's common for people with MCAS to have some level of symptoms all their life, that go unnoticed or dismissed until some precipitating event causes a substantial downturn in their condition. for me it was mono, but other infections (especially covid) and significant stressful events have also been anecdotally reported to precipitate downturns if I recall correctly, or simply being uncontrolled enough for long enough can also snowball.

diagnostic criteria for MCAS were first proposed in 2010, so the true rarity is still very up in the air. (personally I believe a lot of common wastebin diagnoses (ibd, fibro, cfs/me, etc) should be scrutinized very carefully as potential "specialty silos" of MCAS, especially given how often they tend to travel together.)

firstline treatments for MCAS include cheap medications available over the counter like loratadine, aspirin, and famotidine. my condition has become severe enough that I'm currently on third-line treatment (omalizumab injections), which does finally seem to be getting me somewhere. (this is, of course, in addition to still taking all of the first- and second-line treatments. I take 24 units of 13 medications in a given day, it's a lot to keep track of. to the point where I'm not actually sure I've counted it correctly :v then there's my monthly injections and my emergency medications on top of that.)

(those injections btw? can cost thousands of dollars even with insurance. thankfully I'm able to use the company's assistance program, so I don't pay anything out of pocket. for that one.)

being sick is never fun, but if you have a disease perceived as rare it introduces a ton of new complications. (which get even more complicated when the disease is legit super rare!) it took me a long time to figure out what was wrong with me, and I had to do it almost entirely by myself, because doctors simply don't have the knowledge. they're not taught to look for it and there's no simple reliable test. but by yammering about it, it might make someone else's slog a tiny bit shorter <3

[tseecka]

I made a zine!

As you may know, February 29th (28th on non-leap years) is Rare Disease Awareness Day. This is a day of the year where we try to bring attention and education about any number of rare conditions that can affect the population, which are low on funding, research, and support.

My wife was diagnosed last year with Behcet's Disease/Behcet's Syndrome, a form of vasculitis which can affect every blood vessel in her body. It is a chronic and incurable condition. Since receiving her diagnosis, she has been on three separate medications (none of which have worked, and all of which have caused her to be varying levels of immuno-compromised). She has been in extreme joint and muscle pain nearly every day, which is not helped by the cold climate in our part of Canada at this time of year. On any given night, it's 50/50 odds on whether she can get a decent/full night's sleep. There is no physical relief. The disease has disabled her and, in general, negatively affected her mental health and quality of life.

My younger sister went through breast cancer treatment last year and while I would not wish that experience on anyone, nor would I call it anything close to easy, it has been somewhat remarkable to see the difference that it makes having a well-known, well-researched disease vs. having one that medical professionals haven't heard of, or need spelled out for them when they're making notes to your file.

She is my sweet bun, my soul mate and my literal best friend, and I can't do anything to help her. I can't bring her relief; I can't find a cure. But I can do a little bit to bring awareness, in the hopes that the more people know, the more attention we can bring this condition; much like the journey that EDS and POTS patients have been through in the past few years, sometimes visibility is key to having these rare diseases recognized, understood, and tackled.

I have made two copies of the zine available for download and print/distribution. The first one is scanned and resized to be printable on a home inkjet printer with standard margins; there will be white space at the edges of some pages, but it will fold evenly and the pages will be aligned correctly.

The second one is a scan of the full 8.5x11 original. It's very nearly edge to edge. If you have access to a printer that can print full bleed, this one has the better formatting and is more "accurate" to the original.

[awesome-wordspren]

Happy rare disease day!!

I <3 someone rare

[briarpatch-kids]

Im celebrating rare disease day by spending it in urgent care for a pressure sore that got infected <3

[hell-is-a-teenage-girll]

[lynkinchronicles]

Rare disease day

To be rare is to exist in the in-between—too complex for easy answers, too invisible for the world to notice. It’s carrying a body that defies understanding, a reality that feels like a whispered secret. But we are here. In pain, in resilience, in quiet defiance. Today, on Rare Disease Day, we remind the world: we have always been here. And we always will be.

[frenchygv]

Today, February 28th, we observe Rare Disease Day, a global movement advocating for equity in social opportunities, healthcare, and access to treatments for those living with rare diseases. This day is celebrated on the last day of February, the rarest month. We call for action to ensure that individuals with rare diseases can fully participate in family, work, and social life. The long-term goal of Rare Disease Day is to achieve greater equity for the over 300 million people worldwide affected by rare diseases. To do this, we must advocate for fair access to diagnosis, treatment, and care, as well as comprehensive support for their everyday needs. The UN 2030 Agenda and its Sustainable Development Goals (SDGs) provide a vital framework for addressing the needs of this population. Countries can integrate rare diseases into their Universal Health Care (UHC) models and approaches (those which have it). It is possible to make great progress at a rapid pace even if starting from very little. Governments can focus on 1) extending coverage to people living with a rare diseases by promoting visibility, codification and diagnosis; 2) Including other services and adapting existing ones to the needs of the rare disease population; and 3) Protecting the rare disease population from further financial hardship.

Source: rarediseaseday.org.

To learn more about rare diseases and help visit: rarediseaseday.org and thelamfoundation.org.

___

"La Esperanza está en mis genes".

Hoy, 28 de febrero, celebramos el Día de las Enfermedades Raras, un movimiento mundial que aboga por la equidad en las oportunidades sociales, la atención médica y el acceso a los tratamientos para quienes viven con enfermedades raras. Este día se celebra el último día de febrero, el mes más raro. Hacemos un llamamiento a la acción para garantizar que las personas con enfermedades raras puedan participar plenamente en la vida familiar, laboral y social. El objetivo a largo plazo del Día de las Enfermedades Raras es lograr una mayor equidad para los más de 300 millones de personas en todo el mundo afectadas por enfermedades raras. Para ello, debemos abogar por un acceso justo al diagnóstico, el tratamiento y la atención, así como por un apoyo integral para sus necesidades diarias. La Agenda 2030 de las Naciones Unidas y sus Objetivos de Desarrollo Sostenible (ODS) proporcionan un marco vital para abordar las necesidades de esta población. Los países pueden integrar las enfermedades raras en sus modelos y enfoques de Atención Sanitaria Universal (CSU) (aquellos que la tienen). Es posible hacer grandes progresos a un ritmo rápido incluso si se empieza desde muy poco. Los gobiernos pueden centrarse en 1) ampliar la cobertura a las personas que viven con una enfermedad rara promoviendo la visibilidad, la codificación y el diagnóstico; 2) Incluir otros servicios y adaptar los existentes a las necesidades de la población con enfermedades raras; y 3) Proteger a la población con enfermedades raras de más dificultades financieras.

Fuente: rarediseaseday.org.

Para aprender más sobre las enfermedades raras y ayudar visita: rarediseaseday.org and thelamfoundation.org.

[ghost-town-dwellers]

btw happy national rare disease day! my rare disease swag goes crazy

[murderousink23]

02/29/2024 is Rare Disease Day 🌎, National Toast Day 🍞

[kirby-the-gorb]

we are about an hour into rare disease day in my timezone! (it's always the last day of february, whether that's the 28th or the 29th.) the true prevalence of mast cell disorders is unknown, as they are often misdiagnosed or ignored. and mast cell activation syndrome, the most prevalent kind of mast cell disorder, only had diagnostic criteria laid out for the first time in 2010. so whether or not it's truly rare is really up in the air!

(personally I suspect it is just aggressively underdiagnosed but I'm not a research scientist or diagnostician right now. and even if it is rare, it's gonna be a lot less so than it was 5 years ago as certain respiratory infections are known to trigger it into visibility. that's what happened to me when I got mono at the end of 2015, further compounded when I got covid in 2022.)

all chronically ill people face a lot of hurdles when it comes to seeking diagnosis, accommodation, and treatment (all of which can be severely complicated by any intersecting marginalities), but rare diseases present a special challenge.

for example, I have an immune disorder. my immune system does not like being alive, my mast cells are way too jumpy and throw a tantrum over every little thing. you'd think an immunologist would be the one to treat me, right?

I've had 6 immunology referrals rejected in the past 9 months alone. multiple major immunology clinics in my major city tied to a major research university outright refuse to see patients with "mcas" written anywhere in their chart.

after 8 years of being debilitatingly ill, and suspecting it was immune mediated for 6, and getting it confirmed beyond a shadow of a doubt by the bone marrow biopsy last month, I will have my second ever appointment with an immunologist. another 2 1/2 months from now. the first immunologist lied to me about the reliability of the one available blood test, when I first came up with the hypothesis by myself 6 years ago, and forced me to abandon my (correct!!! now proven!!!) hypothesis for 3 entire years while we wandered around lost and got nowhere other than even more thorough process of elimination.

okay, well if my immune system is attacking me, maybe it's technically autoimmune? that's the rheumatologists instead of the immunologists, what do they have to say? dick all my dude, I don't have rheumatoid arthritis so they just shrug at me and go "idk, fibro? I don't know why you're here" and send me home with nothing. (I literally had a rheumatologist say to me, verbatim, "I don't know why you're here." buddy it's your job to read the chart and decide if I get seen or not, you tell me. at least he had a snazzy outfit.)

being chronically ill can be a terrible struggle no matter what, but a disease that is perceived as rare, accurate or not, adds a whole new layer of bullshit. (and of course there are much much rarer diseases out there, with even more hoops and dead ends and struggles and all-new layers of bullshit that even I don't have to deal with!)

anyway I'm having a shit time and using this awareness day as an excuse to productively bitch about it 👍

[themightyfoo]

February 29 is Rare Disease Day.

Because it sucks to be a medical zebra.

[octernity-bitches]

Happy rare disease day!

I have a disease called Erythropoetic Protoporphyria, also known as the vampire disease because it makes the person really sensitive to sunlight and light in general (mine loving to flare up under fluorescent lights or computer screens).

5000- 1000 people have it diagnosed so with it being rare not many people or doctors have heard of it away from King George III (aka the mad king from bridgerton) who was also said to have had a strain of porphyria.

Basically it's don't go in the sun or else I'll burst into a ball of flames and poof into dust like the Baron in wwdint.

Also I get to walk around in black since that absorbs light with a fucking parasol and gloves like I just stepped out of a time machine and I can't be arsed blending in, it's great.

[santacoppelia]

Welcome! Welcome to the Magical, Mystical, Fantastical, Mysterious World of Autoimmune Whimsy, where:

My immune system hates the guts out of my joints and my liver…

We have to diminish its effectiveness, so it doesn't kill me and/or makes me suffer moving…

Therefore, I am at risk of curious infections (like the one colonizing my nose and eyes this week)…

Which are a real problem to treat, because my autoimmune sensitive liver must be protected from almost any medicine created by men or women.

Yeah, not being my happiest lately.

[crpsdesign]

𝟚𝟡 𝔽𝕖𝕓𝕣𝕦𝕒𝕣𝕪 𝕚𝕤 ℝ𝕒𝕣𝕖 𝔻𝕚𝕤𝕖𝕒𝕤𝕖 𝔻𝕒𝕪

To celebrate this day with my Sims, I have created these murals and clothes for the PC game The Sims 4. 

𝔻𝕠𝕨𝕟𝕝𝕠𝕒𝕕 𝕃𝕚𝕟𝕜 𝕓𝕖𝕝𝕠𝕨

What is Rare Disease Day?

The purpose of #RareDiseaseDay is to raise awareness of the more than 6,000 known rare diseases and the approximately 300 million people who are affected by them. 

A disease is considered rare if it affects fewer than 5 in 10,000 people. That's not many - you might think. But if you add up all the rare diseases, there are 4 million people in Germany alone. Together we want to show that we rare people exist.  For all those who want to join in, there are great pictures and items of clothing on TSR that show "I/my Sims also support the Rare".

📁𝔻𝕠𝕨𝕟𝕝𝕠𝕒𝕕 𝕊𝕖𝕥 𝕗𝕠𝕣 𝔽𝕣𝕖𝕖 on TSR

Also check out my other Rare Disease Sets:

ℝ𝕒𝕣𝕖 𝔻𝕚𝕤𝕖𝕒𝕤𝕖 𝔻𝕒𝕪 𝕠𝕧𝕖𝕣𝕒𝕝𝕝𝕤 for toddler

ℝ𝕒𝕣𝕖 𝔻𝕚𝕤𝕖𝕒𝕤𝕖 𝔻𝕒𝕪 ℤ𝕖𝕓𝕣𝕒 𝕠𝕧𝕖𝕣𝕒𝕝𝕝𝕤 for toddler

ℝ𝕒𝕣𝕖𝔻𝕚𝕤𝕖𝕒𝕤𝕖𝔻𝕒𝕪 ℙ𝕒𝕚𝕟𝕥𝕚𝕟𝕘𝕤 2023

ℝ𝕒𝕣𝕖 𝔻𝕚𝕤𝕖𝕒𝕤𝕖 𝔻𝕒𝕪 𝕞𝕒𝕝𝕖 𝕤𝕙𝕚𝕣𝕥𝕤

Credits:

A big thank you to RareDiseaseDay.org and Achse e.V. who advocate for people with rare diseases, fight for research and education, and provide lots of useful information and social media toolkits to download in several languages.

Terms Of Use:

link back to original post if you recolor/convert

do not put my content behind Patreon or adfly

[allthewaysyousavedmylife]

Most of us get no treatment, no support and no idea when or how our disease will kill us. Most of us can't make any guesses on how our lives will look because we're not counted.