#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

DATE: November 07, 2025 at 05:00PM
SOURCE: BioWorld MedTech

Direct article link at end of text block below.

UK’s @MHRAgovuk eyes #RareDisease framework for #therapeutic products

https://t.co/FMkePThQ8s

#medtech

Here are any URLs found in the article text:

https://t.co/FMkePThQ8s

#medtech

Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .

-------------------------------------------------

Private, vetted email list for mental health professionals: https://www.clinicians-exchange.org
.
NYU Information for Practice puts out 400-500 good quality health-related research posts per week but its too much for many people, so that bot is limited to just subscribers. You can read it or subscribe at @PsychResearchBot
.
Since 1991 The National Psychologist has focused on keeping practicing psychologists current with news, information and items of interest. Check them out for more free articles, resources, and subscription information: https://www.nationalpsychologist.com
.
EMAIL DAILY DIGEST OF RSS FEEDS -- SUBSCRIBE:
http://subscribe-article-digests.clinicians-exchange.org
.
READ ONLINE: http://read-the-rss-mega-archive.clinicians-exchange.org
.
It's primitive... but it works... mostly...
.
-------------------------------------------------

#healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech

Happy #MedicineMonday! The #FDA just approved the first treatment for #RettSyndrome, a rare, genetic, neurological disorder affecting brain development. This condition affects about 1:10,000 females, males to a far rarer extent and leads to a loss of language and motor skills developed earlier in life.

The medication Daybue (trofinetide) is for people 2 or older, delivered orally or via gastrostomy tube.

#DrugDevelopment #RareDisease

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/

@SimoneDusseljee

Welcome to #ScienceMastodon, Simone!
Great to connect with you here! :happy:

Don't forget to follow: @cilia

#NewHere #Cilia #raredisease #Ciliopathies #Sciencefediverse #Science

@greg_pazour

Wonderful to see you here, Greg! A warm welcome to #ScienceMastodon and the expanding #ciliverse ! 🙂 🙂 🙂

#Cilia #raredisease #cellbiology #NewHere #Sciencefediverse