#raredisease — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #raredisease, aggregated by home.social.
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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 🙂
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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 🙂
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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 🙂
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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 🙂
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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 🙂
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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
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Veranstaltungstechnik und -orga bei der Familienkonferenz des Vereins "Hand in Hand gegen Tay-Sachs, Sandhoff und GM1" für den deutschsprachigen Raum (und darüber hinaus). In diesem Jahr feiert der Verein sein Zehnjähriges.
https://tay-sachs-sandhoff.de/2025/09/04/grosse-familienkonferenz-zum-zehnjaehrigen-bestehen/
#SelteneErkrankung #RareDisease #Selbsthilfegruppe #TaySachs #MorbusSandhoff #GM1 #Würzburg
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Ugh, my face started hurting after taking my sister's trash out 😭 late fall & winter is always so hard cuz cold air is my biggest trigger. I was only outside for like 45 seconds too.
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Familienkonferenz #TaySachs, #Sandhoff und #GM1 für den deutschsprachigen Raum. Emotionale Achterbahnfahrt, tonnenweise Infos, Austausch von Betroffenen und Familien. Und ich darf Technik machen.
https://tay-sachs-sandhoff.de/
#SelteneKrankheiten #RareDisease #TaySachsSandhoff #Selbsthilfegruppe #Würzburg -
📣 Just heard that the Cilia2024 conference is almost fully booked! 😊 :happy:
Hurry and grab the last on-site spots for the world's biggest cilia meeting in beautiful Dublin!
Last-minute industry sponsors are welcome!
Online participation in this hybrid meeting is, of course, not limited.
Webpage: https://cilia2024.ie/
#Cilia2024 #Ciliopathies #RareDisease #ADPKD #PCD #BBS #NPHP #Centrosome #Centriole #CellBiology #DevelopmentalBiology #Nephrology #Neurology #EMBO @cilia @cellbiology
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CW: Seltene Erkrankung / Rare Disease
Anstrengendes, trauriges, aber auch interessantes und schönes Wochenende bei der deutschen Familienkonferenz von "Hand in Hand gegen Tay-Sachs, Sandhoff und GM2" in Würzburg. Ich darf wieder die Technik machen.
#TaySachs #Sandhoff #GM2 #SelteneErkrankung #RareDisease #Würzburg -
Register now for the amazing hybrid centrosome conference in Istanbul, hosted by Elif Nur Firat-Karalar!
Sharing this announcement on the fediverse. Unsure if Elif has joined Mastodon yet…
Some of us might see this as the basal body meeting 😉
@cilia
#Centrosome2023
#cilia #centrosome #centriole #Embo #EmboWorkshop #Science #zilien #RareDisease #ScienceMastodon #Zentrosom #developmentalbiology #biology @nephrology #CellBiology #Ciliopathy -
Zum Tag der seltenen Erkrankungen sei auf die Podcast-Folge "Seltene Erkrankungen - zwischen Einsamkeit und geschenktem Glück" im Würzblog-Podcast hingewiesen, die vor drei Jahren aufgenommen wurde. Wie eine Familie mit der seltenen Erkrankung ihres Kinds lebt.
https://wuerzblog.de/2020/03/04/wuepod065-seltene-erkrankungen-zwischen-einsamkeit-und-geschenktem-glueck/
#SelteneErkrankung #RareDisease #RareDiseaseDay #Podacst #WüPod #TaySachs #Sandhoff -
Hisham, welcome to #ScienceMastodon! :happy:
Great to see more and more faces from Cologne here! :koeln: :dom:
#centrosome #cilia #hedgehog #raredisease #dermatology #cecad #uniklinikköln
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📣📣📣
Okay, here it is, the #Cilia group:@cilia
My first attempt didn't work, most likely because of the "&" within the former group-name.
The way I understand this: everyone can now follow this group. If the group is mentioned in a post " @cilia ", this is shared with everyone in the group.Deeply sorry that the name is now only "cilia" - it is meant for maximum inclusion!!!
It should include everyone:
#raredisease #ciliopathies #centrosome #centriole #devbiolPlease join!!! 🙂🙂🙂
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Hello fellow Mastodons!
I'm a graduate student amazed by the entanglement of intuition, imagination and science! 😁 I work on #cilia #centrosome dynamics in the #skeletal #muscle at Jyotsna Dhawan's lab at CSIR-CCMB, India.
In support of #raredisease research and communities.