#raredisease — Public Fediverse posts

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

So much has gone into getting hold of this little cardboard box of pills; upending my life, moving countries, the endless tests. But then it will also mean a halt to the degeneration of my eyesight, hearing, heart, kidneys, and nervous system (and that's pretty great!) so I'm feeling a tad emotional looking at this little box. I can't believe I've actually got it.

Of course, it *is* ludicrously expensive (1 month supply costs $28,000 AUD, although I only pay 25 bucks. Public healthcare baby!)

I'm now something of a celebrity at the local Amcal for having the most expensive drug they dispense 🙂

#RareDisease

https://www.europesays.com/ie/681410/ Blood protein profiling could improve rare disease diagnosis #blood #Éire #ExomeSequencing #Gene #Genes #Genetic #GeneticInformation #Genome #Genomic #genomics #Healthcare #IE #Ireland #Laboratory #medicine #Protein #Proteomics #RareDisease #Research #Science

Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!

Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft! #Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr! Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

📣 A new star is born in the cilia world and cell death galaxy: Emilia Kieckhöfer brilliantly defended her PhD today! Congratulations!!! 🎉🥳👍

#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath #apoptosis #kidney #cysts #Nphp #Zilien

@cilia
@SFB1403 @CECAD
@UniKoeln

Light-Activated Therapy Improves Vision in Inherited Disease Trial

A clinical trial shows a light-activated #protein from an injected #gene improves visual abilities in people with advanced retinitis pigmentosa, an #inherited #eye disorder.

https://sciencebusiness.technewslit.com/?p=44734

#News #Science #Business #Biotechnology #GeneTherapy #RP #Vision #Genetic #LightActivated #Chemistry #ClinicalTrial #Retina #RareDisease