#rare disease 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 👍

[plague-of-insomnia]

Feb 29 is Rare Disease Day

[Via rarediseaseday.org*]

Today, on the “rarest” of days felt like a good time to spread awareness.

My disease hasn’t even been fully identified yet. But even if your disease has a name and is established in the literature, getting a diagnosis and treatment can be difficult. Getting respect from medical professionals may be even harder.

*I think they’re being slammed with traffic today so you may not be able to get into the site right away

[will-o-the-witch]

Happy Rare Disease Day! Shoutout to people living with diseases that people generally don't understand, diseases people haven't done much research on, and people who have to explain what their stuff means every single time it comes up with someone new.

[harveyguillensource]

Harvey commemorated Rare Disease Day, which is observed globally on the last day of February each year to raise awareness and build community for individuals suffering from diseases that are often unknown or overlooked.

We’re proud of him for using his platform to call attention to this movement.

Check out the official website for Rare Disease Day here.

[roamwithahungryheart]

Let's talk about disability equality.

It's only in the last few years that public spaces have begun to recognize invisible disabilities and make reasonable adjustments to accommodate wheelchair users. From signs in public bathrooms to ramps and rails, things are starting to change.

But there is still a lot of work to be done.

Disabled and chronically ill people in both the US and UK are at risk of losing their disability benefits when they move in with a partner. If you're able to live alone but require a health visitor, you're eligible to receive benefits. If you have a live-in carer, such as a family member, you're eligible to receive benefits. But if you're living with a partner, or are married/civilly partnered, you lose access to those benefits.

It's hard enough to access treatment already, why should we have the right to receive external help taken from us just because we're in a legal partnership? Why should we be forced to put extra pressure on our partners to be our sole carers? It's entirely unfair. It doesn't make sense.

Our government needs to do better.

We will only truly be treated as equal when we can cohabit, marry and access treatment without losing out on the help we need to survive.

[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 🍞

[themightyfoo]

February 29 is Rare Disease Day.

Because it sucks to be a medical zebra.

[floridaboiler]

Today is Rare Disease Day and it’s a day to raise awareness for the 300 Million people in the world with over 6000 rare diseases. If you or a loved one have a rare disease write it in the comments and make it seen.

https://twitter.com/allontheboard

[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.

[kelsonius]

It's rare disease day!

(Link to official website)

The disease I've been diagnosed with isn't rare, especially now that covid is still creating new patients probably everyday. And yet, there is virtually no funding for research. So there are no known biomarkers for diagnosis, no treatments, no specialists, and no insurance coverage.

Imagine how much worse it is for rare diseases, whether they are visible or invisible. A huge thank you to all the caretakers and patients who are also advocates by necessity. I know it sucks to have your life revolve around your (lack of) health but what you're doing is invaluable to the future of healthcare!

[roamwithahungryheart]

Rare Disease Day 2023

I'd like to start by saying a huge thank you to everyone for your support and love after my recent surgery, it truly means so, so much.

As it's Rare Disease Day once again, I want to share my experience in the hope that it helps someone out there to not only understand what it's like to live with a rare disorder, but also to feel a little less alone. So, let's get down to it.

For those of you who don't already know, I was born with a Dandy-Walker malformation and an atrioventricular septal defect specifically known as Tetralogy of Fallot. ToF is characterized by four defects, and according to my current surgeon, my case isn’t textbook. God's plan was to make me as unique as possible!

I had corrective surgery at just 5 weeks old, and my second repair in October 2022. I’ll need further surgeries in the future.

While ToF is one of the more commonly known conditions, DWS is largely unrecognized. Even the specialists I’m under don’t know everything about DWS. That’s the trouble with a disorder with so many variants.

According to statistics from the Dandy-Walker Alliance, 1 in 10,000 children are born with DWS. It’s also more likely to affect women than men. Some people don't live past the age of 40.

My malformation and co-existing symptoms are milder than they could have been. I’m one of the lucky ones who won’t need a hydrocephalic shunt, or end up in a wheelchair, but for some, that’s the reality of living with DWS.

The defining trait of Dandy-Walker Syndrome is an abnormality of the cerebellum, forming a cyst at the base of the skull, and complete absence of the cerebellar vermis. In severe cases, increased cerebral fluid is present. Children born with DWS will have delayed development and poor motor control. My hands mirror each of their movements, and I occasionally experience myoclonic jerks.

Another side effect of DWS is epilepsy. I've had a lifetime of headaches, dizziness and seizures. There are 41 different types of seizure, and I can experience any one of them at any given time. So in short, it's sometimes a real chore to get through the day! But in spite of it all, I've managed to live a reasonably normal life.

I turn 30 this year, and I've been thinking a lot more about my future goals, because as I'm sure you know, women face a lot of pressure to have their shit together by the time they turn the big 3-0. I’m a woman who would love to have children, but know that because of my health, it might never happen. Or if it does happen, there’s a significant chance my child could end up with all the same health complications I have. I can’t count the times I’ve kept myself awake at night, sometimes even cried because of it. Sometimes it’s scary having to admit and accept that. However, I'm a big believer in the old adage 'where there's a will, there's a way'. It's gotten me this far, and I don't intend to let anything stop me from living the life I deserve.

If you're reading this and you have a rare chronic illness or disability - or any disorder - I hope you take a little time today to remind yourself of how unique and wonderful you are. Take pride in being perfectly imperfect.

You are seen, you are loved, and you are stronger than you believe.

[lifesapolyp]

I was excited to receive my early copy of

Kaleidoscope Rare Disease Stories where

In it I share my story with #familialadenomatouspolyposis and #shortbowelsyndrome and how Life’s a Polyp changed my life.

🦓 You can preorder your copy now for its release on #RareDiseaseDay and in honor, net proceeds are being donated to National Organization for Rare Disorders, Inc. (NORD)!

🛒 Preorder: https://a.co/d/f2kbhav

[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.

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[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.