Mastodawn

𝗕𝗼𝗵𝗿𝗶𝗻𝗴-𝗢𝗽𝗶𝘁𝘇 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 (𝗕𝗢𝗦) 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗗𝗮𝘆 - 𝗔𝗽𝗿𝗶𝗹 𝟲

Today, we stand together to raise awareness about Bohring-Opitz Syndrome (BOS), a rare genetic disorder affecting fewer than 200 people worldwide. BOS is caused by a mutation in the ASXL1 gene and can lead to serious health challenges including feeding difficulties, respiratory infections, developmental delays, and more.

On this day, we honor the strength of families facing BOS, support ongoing research, and educate the public and medical community to improve care and understanding.

Join us in spreading knowledge and hope for those impacted by BOS.

💛 Wear gold and denim today to show your support!

#BohringOpitzSyndrome #BOSAwerenessDay #RareDiseaseDay #GeneticDisorders #SupportRareDiseases #BOSFoundation #RareDiseaseCommunity #GoldForBOS #DenimForRare #FightBOS #SCABPharmacy

Burkhard Tomm-Bub, M. A.Feb 28

28.02.2026
#RareDiseaseDay
#ShowYourStripes
#TagDerSeltenenErkrankungen
#RareDiseaseCommunity
#SeltenVereint
Eine zügige Einführung der ICD-11 würde auch hier sehr helfen! / A swift introduction of the ICD-11 would be very helpful here as well!
Info: https://kopfmahlen.blogspot.com/2025/06/startseite-icd-11-petition-bundestag.html

STARTSEITE ICD-11 / PETITION / Bundestag / WHO - PORTAL

Infoblog zur ICD-11, Gesundheit, Petition

poconnor Jan 23

What is Palynziq? And why does it have so many names?

PAL. PEG-PAL. Pegvaliase. Palynziq.
If you’ve ever felt confused by PKU treatment names — you’re not alone. They all describe the same enzyme-based treatment, just from different angles.

I’ve updated my blog to explain it in plain language:
💚 what the treatment is
💚 how it works
💚 where it’s available (and where it isn’t)

https://www.pigpen.page/what-is-palynziq/

#PKU #LivingWithPKU #RareDiseaseCommunity #PatientInfo #Phenylketonuria

What Is Palynziq? PKU Treatment Explained. AKA PAL, PEGPAL

PAL stands for Phenylalanine Ammonia Lyase, which is a common enzyme in many plant species. The name is similar to PAH because both of them break down phe.... This is why it has been developed as a treatment for people who can’t produce enough PAL — those of us with PKU.

PigPen | Pauline O'Connor

Liz Hiles Jun 12, 2024

Podcasts Highlighting Rare Voices From the Rare Disease Community #RareDiseaseCommunity
https://picnichealth.com/blog/9-podcasts-highlighting-voices-from-the-rare-disease-community

PicnicHealth | 9 Podcasts Highlighting Voices From the Rare Disease Community

Whether you’re already a podcast lover or are just starting to explore the podcast universe, you're in luck: There are a good number of podcasts that highlight voices from the rare disease community!

poconnor May 19, 2024

Good morning @NSPKU Conference. Metabolic dietitian Suzanne Ford kicks us off with a look at the treasure trove of information on the NSPKU webpage.

the research page has open access to relevant studies, while the documents page is a rare resource of helpful information.

Plus, full page copies of the News & Views!

#livingwithpku #pku #NSKUConference #NSPKU2024 #raredisease #rarediseasecommunity #lowprotein

Mark Maguire Mar 31, 2024

Annual greetings to those celebrating Easter on this day but have dietary restrictions regarding chocolate. Hope you had a good day and satisfied your sweet tooth in the way that suits you.🥚🐣 #DietaryRestriction #RareDisease #RareDiseaseCommunity #DairyFree #PKU #PKUAwareness #Mastodaoine

poconnor Feb 29, 2024

I’m allowed 5g of protein every day with my PKU. Today, I’ll be capturing my PKU meals for Rare Disease Day.
#Breakfast is
- 100g coconut yogurt (1g protein)
- 1 banana (minus a bit which went to #FluffMuppet),
- tea with oat milk (dairy has too much protein for me),
- medicine / supplement is 2 sachets of GMPro Mix-in and 2 phlexy-vit tablets.
#livingwithpku #pku #raredisease #rarediseasecommunity #rarediseasecommunity #rarediseaseadvocacy #rarediseaseday #leapday #leapyear #feb29

Usher Syndrome Ireland Jul 16, 2023

Hello 👋 Just checking, do we have an Rare Disease community here on Mastodon?
#RareDisease #RareDiseaseIreland #RareDiseaseCommunity #UsherSyndrome

MediPaCe Mar 2, 2023

Leveraging existing #PatientGroups and networks is key to finding #RareDisease patients to engage in medicines R&D says Inês Alves from ANDO Portugal.

➡️ Read more about how to overcome challenges to #PatientEngagement in the #RareDiseaseCommunity: https://medipace.com/2023/02/28/raredisease-community/