#rarediseaseday — Public Fediverse posts

“The growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.”

#RareDiseaseDay #raredisease #chronicillness

https://pca.st/episode/cb7574f5-dd62-41ba-986d-686370acc4d6

#RareDiseaseDay: Carbohydrate Research reports a synthetic heparan sulfate biomarker to improve newborn screening for Sanfilippo syndrome 🧬 Glycans link with lipid metabolism, and lipid pathway disruption is common in rare disease. Better tools enable earlier detection ✅️

Synthesis of the endogenous no...

It’s #RareDiseaseDay today. Here’s a link to my #vasculitis story about the neurological disease I fell ill with in 1994. 1 in a million incidence and frustratingly progressive in my case, despite throwing masses of treatment at it over the years since. https://www.vasculitis.org.uk/living-with-vasculitis/vivs-story #Health #ChronicIllness

Heute ist Tag der seltenen Erkrankungen
Rare Disease Day #RareDiseaseDay
#TagDerSeltenenErkrankungen siehe Elke Overhage Blog Unsichtbar, aber lebensgefährlich Warum wir jeden Tag um Verständnis kämpfen #elkeoverhage
https://nrw.social/@elkeoverhage/116051677789950093

"Viele Betroffene wechseln mehrfach Arzt und Ärztin, erhalten widersprüchliche Einschätzungen oder nur Verdachtsdiagnosen. Laut Rosenberger berichten außerdem insbesondere Frauen, mit ihren Beschwerden nicht ernst genommen zu werden."

#RareDiseaseDay

https://science.orf.at/stories/3234412/

Today is international #RareDiseaseDay so go find someone rare and give them a hug (consensually, of course). In NZ alone there are more than 300,000 rare people (6% of the population) + their families and carers on top of this. It's much less rare than you think.

You can also give money. It won't surprise you to learn that Rare Disorders NZ's contract with the Ministry Of Health has shrunk in recent years and doesn't cover a fraction of the work they do coordinating research, policy input, operating a support line, connecting support groups, and educating health professionals.

Please consider giving $28 this 28th Feb.

https://glowupforrare.raiselysite.com/donate

#RareDisorders

Your Story Matters!

For Rare disease day, people with PKU are sharing their story.

👧 Clair discusses parenting with PKU, when your child does not have PKU - and the interesting challenges she has faced.

🍫 Ifan shares his experience navigating the manosphere, and what that meant for his PKU and mental health.

📦️ Soheb wrote a series of blogs for PigPen - looking at moving home with PKU, and getting into the gym.

https://www.pigpen.page/share-your-story-2/

#ShareYourStory #PKU #RareDiseaseDay #RareAware

#RareDiseaseDay: In der EU leben bis zu 36 Mio. Menschen mit einer seltenen Erkrankung. Das Paul-Ehrlich-Institut trägt mit seiner Expertise in Regulation & Forschung dazu bei, dass innovative Therapien sicher entwickelt und zugelassen werden können.
👉 https://www.pei.de/DE/newsroom/hp-meldungen/2026/260227-tag-der-seltenen-erkrankungen.html
#TagDerSeltenenErkrankungen

28. Februar 2026
Tag der seltenen Erkrankungen -
Erfahre mehr und engagiere dich!

#RareDiseaseDay

https://www.youtube.com/watch?v=C7-W_eiyzUk

Selten ist nicht selten: Bis zu 10.000 seltene Erkrankungen sind bekannt. Für Anästhesieteams heißt das oft fehlende Routine und erhöhte Risiken. #OrphanAnesthesia der #DGAI bietet >230 Empfehlungen für mehr Patientensicherheit. #RareDiseaseDay
https://nachrichten.idw-online.de/2026/02/27/tag-der-seltenen-erkrankungen-dgai-datenbank-orphananesthesia-staerkt-weltweit-die-patientensicherheit-bei-narkosen

Amyloid plaque can build up in body organs other than the brain. The resulting diseases — AL amyloidosis, ATTR amyloidosis and more — cause much suffering. #RareDiseaseDay

https://knowablemagazine.org/content/article/health-disease/2023/seeking-treatments-for-amyloidosis

#KnowableMagazine
#ScienceMastodon

Heute ist der Rare Disease Day, und morgen ist die jährliche Veranstaltung von ProRaris hierzu in Luzern. #RareDisease #RareDiseaseDay #rarediseaseday2025 #Luzern #Schweiz

Heute ist der #RareDiseaseDay, der Tag der Seltenen Erkrankungen, jährlich am 28.02.
Eine davon ist das #GuillainBarreSyndrom - 1 bis 2 Fälle pro 100.000 im Jahr. Daher auch oft länger nicht erkannt.
Selten, bis es Dich trifft. Daher: #Barrierefreiheit geht alle an, früher oder später.
https://www.achse-online.de/de/was_tut_ACHSE/tag_der_seltenen/

Genetic conditions like Dravet syndrome, which causes severe childhood epilepsy, are hard to tackle with traditional gene therapy. New approaches in the works include using antisense therapy to boost mRNA splicing. #RareDiseaseDay

https://knowablemagazine.org/content/article/health-disease/2023/hope-for-haploinsufficiency-diseases

#KnowableMagazine
#ScienceMastodon

Rare Disease Day 2025 - some thoughts as a vasculitis patient. My annual post about Rare Disease Day, including links to further thoughts from me about related topics. https://vivsacademicblog.wordpress.com/2025/02/28/rare-disease-day-2025-some-thoughts-as-a-vasculitis-patient/ #RareDiseaseDay #health #disability #NHS #medicine #vasculitis

I’m one of many living with PKU, a rare disease.

Rare Disease Day is observed every year on 28 February (or 29 February in leap years). The day serves as a powerful focal point, driving advocacy efforts at local, national, and international levels.

Today, I will be joining an NHS event aimed at raising awareness of rare disease among medical staff.

Hope you all have a great day, and let me know what you are up to.
#PKU #phenylketonuria #LivingWithPKU #raredisease #rarediseaseday

Der letzte Tag im Februar ist jährlich der Tag der seltenen Erkrankungen (#RareDiseaseDay), ein Aktionstag, der das Bewusstsein für seltene Krankheiten weltweit schärfen soll.
Mehr erfahren 👉 https://www.pei.de/DE/newsroom/hp-meldungen/2025/250228-tag-der-seltenen-erkrankungen.html

#RareDiseaseDay 2025 :disability_flag:
:BoostOK:

📯 Just published! The February IHI newsletter at https://europa.eu/!cNp8tC
✅ How our projects are helping to make the #EHDS a reality
✅ Our MACUSTAR project on eye disease received a letter of support from the EMA
✅ AMR project COMBINE trained an #AI model to improve the selection of compounds that can fight multi-drug resistant bacteria
✅ We meet new IHI projects on #RareDiseases, greener drug manufacture & more patient friendly #BloodTests
#RareDiseaseDay #IHITransformingHealth #HorizonEU

In Deutschland leben etwa 4 Millionen Menschen mit einer seltenen Erkrankung. Ihnen gilt nicht nur heute am #RareDiseaseDay unsere Aufmerksamkeit: Das Berliner Centrum für Seltene Erkrankungen der #CharitéBerlin bietet Betroffenen eine Anlaufstelle. https://www.charite.de/klinikum/themen_klinikum/berliner_centrum_fuer_seltene_erkrankungen_buendelt_expertise

#Medizin #Gesundheit #Forschung

In Pōneke today to have tea with the Queen* at Government House and to celebrate local heros of rare disorder advocacy. My speech went well, even my te reo held up, and I had some amazing conversations with people who show up for others every day, even when it is hard and seems hopeless.

Humanity won this day my friends, and I fly home tonight tired but restored.

*my old mate the Governor General, Dame Cindy Kiro

Today is international Rare Disease Day. Go hug someone rare.

#RareDiseaseDay

😔 Conducting clinical trials in #RareDiseases, particularly ultra-rare diseases, is highly challenging.
💡 New project RealiseD_ihi plans to change this - they're targeting a paradigm shift in #ClinicalTrials for #RareDiseases and will deliver tools and resources to make this happen
Find out more 👉 https://europa.eu/!fQNgR8
#IHITransformingHealth #HorizonEU #RareDiseaseDay

With #RareDiseaseDay coming up, we're sharing Morgan's story to help raise funding and support for BPAN research.

Learn more & donate: https://beatbpan.org

Casey posted this on FB yesterday for #RareDiseaseDay - I got on Pete's account and screenshotted it.

#rarediseaseday2024 #RareDiseaseDay #CMN #NCM #GiantNevus

Casey posted this on FB yesterday for #RareDiseaseDay - I got on Pete's account and screenshotted it.

#rarediseaseday2024 #RareDiseaseDay #CMN #NCM #GiantNevus

Casey posted this on FB yesterday for #RareDiseaseDay - I got on Pete's account and screenshotted it.

#rarediseaseday2024 #RareDiseaseDay #CMN #NCM #GiantNevus

NEW: Just one faulty gene on chromosome 15 leads to Angelman syndrome, characterized by a happy demeanor and developmental disabilities. A cure is coming, but identifying patients in Hong Kong aand ensuring they can access treatments is hard.

More in our #RareDiseaseDay coverage:

https://www.thexylom.com/post/a-moonshot-to-cure-angelman-syndrome-is-reachable-where-are-the-people-counting-on-it

#hongkong #china #science#publichealth #health #medicine #reseach #journalism #news

Today is Rare Disease Day!
Head on over to our boards to learn more and join in on the Servant of All Team's discussion

https://buff.ly/49K2LwH

#AesSedai #Fandom #Fansite #RareDiseaseDay #ServantOfAll #ShareYourColours #TarValon #TarValonNet #TheWheelOfTime #TheWhiteTower

Today is Rare Disease Day!
Head on over to our boards to learn more and join in on the Servant of All Team's discussion

https://buff.ly/49K2LwH

#AesSedai #Fandom #Fansite #RareDiseaseDay #ServantOfAll #ShareYourColours #TarValon #TarValonNet #TheWheelOfTime #TheWhiteTower

Today is Rare Disease Day!
Head on over to our boards to learn more and join in on the Servant of All Team's discussion

https://buff.ly/49K2LwH

#AesSedai #Fandom #Fansite #RareDiseaseDay #ServantOfAll #ShareYourColours #TarValon #TarValonNet #TheWheelOfTime #TheWhiteTower

Today is Rare Disease Day!
Head on over to our boards to learn more and join in on the Servant of All Team's discussion

https://buff.ly/49K2LwH

#AesSedai #Fandom #Fansite #RareDiseaseDay #ServantOfAll #ShareYourColours #TarValon #TarValonNet #TheWheelOfTime #TheWhiteTower

Today is Rare Disease Day!
Head on over to our boards to learn more and join in on the Servant of All Team's discussion

https://buff.ly/49K2LwH

#AesSedai #Fandom #Fansite #RareDiseaseDay #ServantOfAll #ShareYourColours #TarValon #TarValonNet #TheWheelOfTime #TheWhiteTower

#RareDiseaseDay #ShareYourColours #Awareness

Zum #TagderSeltenenErkrankungen möchte ich gern Duchenne-Deutschland (ehemals Benni & Co.) vorstellen. #Muskeldystrophie #Duchenne ist auch so eine Arschlochkrankheit, die man niemandem wünscht.
https://www.duchenne-deutschland.de/

#RareDiseaseDay #RareDisease #AusGruenden

Read the interview with Karima Djabali about the underlying biological mechanisms of the rare #geneticdisorder Hutchinson-Gilford #Progeria Syndrome that leads to severe, premature aging symptoms in children: http://go.tum.de/974020

#RareDiseaseDay

📷K. Djabali/Munich Institute of Biomedical Engineering

It's Rare Disease Day again, and time to reshare my experiences with a 1 in a million (literally!) progressive neurological disease, cerebral vasculitis. I've written a lot about it before, but I think my "Implications of living with a rare disease" blog post is a good one, which also addresses the experiences of other people living with other rare diseases. https://vivsacademicblog.wordpress.com/2016/02/29/implications-of-living-with-a-rare-disease/ #RareDiseaseDay #RareDiseaseDay2024 #Vasculitis #Neuro #NHS

Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion

#AesSedai #RareDiseaseDay #ServantOfAll #ShareYourColours#TarValonNet #TheWheelOfTime #TheWhiteTower

Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion

#AesSedai #RareDiseaseDay #ServantOfAll #ShareYourColours#TarValonNet #TheWheelOfTime #TheWhiteTower

Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion

#AesSedai #RareDiseaseDay #ServantOfAll #ShareYourColours#TarValonNet #TheWheelOfTime #TheWhiteTower

Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion

#AesSedai #RareDiseaseDay #ServantOfAll #ShareYourColours#TarValonNet #TheWheelOfTime #TheWhiteTower

Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion

#AesSedai #RareDiseaseDay #ServantOfAll #ShareYourColours#TarValonNet #TheWheelOfTime #TheWhiteTower

Check out the #Roundup of our #RareDiseaseDay campaign here:
https://medipace.com/2023/02/22/rare-disease-day-2023/

Topics include:
- #FamilyPerspectives & #PatientStories
- #PatientEngagement
- #OvercomingChallenges

Special thanks to our network, colleagues and Ines and Nick for sharing your thoughts!

I somehow missed Rare Disease Day yesterday, 28th February, which is a bit of a faux pas for a carrier of a rare disease gene (Classic PKU) and a dad to a kid with PKU. I wouldn’t have missed it on the Other Site. Isolated communities excel at using Twitter to cohere around spotlight days or months. But in good news today I’ve found two other Mastodonians using the PKU #. Our rare community just grew a little. #RareDisease #RareDiseaseDay #PKU #phenylketonuria #Metabolic #PKUlife

"What we need is a #PublicPrivatePartnership approach, because the current drug development model does not work in the case of #UltraRareDiseases"

➡️See Nick Sireau's full interview:
https://www.youtube.com/watch?v=RKzwBmUYKF4

➡️Read the full article about overcoming challenges in #PatientEngagement in the #RareDiseaseCommunity: https://medipace.com/2023/02/28/raredisease-community/

#PatientEngagement #RareDiseaseDay

I hereby petition to change the #RareDiseaseDay mascot from a zebra 🦓 to a unicorn. 🦄 But happy day to those of us who are rare! Keep defying odds and educating medical providers! #ShowYourStripes #ShareYourColors #ShareYourColours #SMA #ChronicIllness #Disability