Hola Titánicos, cada 7 de septiembre se celebra el día mundial de concienciación de Duchenne, con el objetivo de informar y concienciar sobre la distrofia muscular de Duchenne, que afecta a unos 250.000 pacientes en todo el mundo, especialmente niños.

https://somosdisca.es/dia-mundial-de-concienciacion-de-duchenne-2023/

#duchenne
#visibilidad
#prevencion
#enfermedadesraras
#salud #enfermedad
#enfermedadrara
#discapacidad
#disability
#disabilities
#desafioduchenne
#WDAD16
#Duchenneawareness
#todossomosduchennebecker.

Sonntag am Kemnader See. https://www.duchenne-deutschland.de/kemnader-burglauf-2023/

#duchenne #laufen

"It felt like the Hunger Games":

Between 6th birthdays that came too soon & insurance companies denying coverage, families scramble to get their 5 year-olds treated under Sarepta's narrow #FDA approval for #DMD

What a gut punch ending.

https://www.statnews.com/2023/08/16/duchenne-muscular-dystrophy-sarepta-elevidys-gene-therapy-eligible-boys/

#health #healthcare #biotech #genetherapy #insurance #duchenne #musculardystrophy #parenting #medicine

#Duchenne #Muskeldystrophie ist eine sehr seltene Krankheit, die schon in jungen Jahren zum Tod führt. Vor wenigen Wochen ist in den USA erstmalig ein Medikament zugelassen worden. Auf Open #Petition läuft gerade eine Abstimmung, dieses Medikament beschleunigt auch in Europa zuzulassen und ich bitte euch hier zu unterschreiben. Es wäre ein Hoffnungsschimmer für alle Betroffenen.
bitte #boosten
https://www.openpetition.eu/petition/online/hilfe-fuer-erkrankte-kinder-beschleunigte-zulassung-von-srp-9001-mit-muskelerkankung-dmd

Zeigt mal, was ihr könnt. https://www.duchenne-deutschland.de/kemnader-burglauf-2023/ #laufen #duchenne #kemnade

Last Thursday, the FDA voted to approve Sarepta's microdystrophin gene therapy for #Duchenne muscular #dystrophy.
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

This was not an easy call, made on the basis of a biomarker rather than efficacy data. I wrote about it last month for Nature Medicine.

#genetherapy #drugdiscovery #drugdevelopment

https://www.nature.com/articles/d41591-023-00052-4

Marco Roos presents the Duchenne Parent Project #FAIRdata https://fairdata.systems/home/duchenne-parent-project/
Overall 7% of the population is affected by rare diseases. Delay to time of diagnosis estimated at 4-5 years. #rarediseases #duchenne
@biocuration2023 #biocuration2023

FDA will soon rule on whether a gene therapy for #Duchenne muscular dystrophy should be given conditional approval.
My colleagues Jason Mast &
@adamfeuerstein explore its story — and the devastating condition it targets. https://www.statnews.com/2023/04/17/sarepta-gene-therapy-duchenne-muscular-dystrophy-fda-decision/

You like my new slipper/shoes from Montane?

I haven't worn any type of shoe since 1999 😮 I had surgery to cut my tendons in each ankle in 97 that they used to do for boys with Duchenne. It was a complete waste of time and made my feet weak and painful, so I stopped wearing shoes for 24 years.

#Shoes #Disability #Disabled #Health #Healthcare #Duchenne #Sheffield #Mastodon

https://www.bbc.co.uk/news/uk-england-leeds-64189002

[#duchenne #muscularDystrophy ]

https://www.duchenneuk.org/what-is-duchenne/

https://dmdcareuk.org/

[i see this every day. people who love people with #DMD do not understand it. people who care for people with #DMD do not understand it. and worst, people who have #DMD are denied chances to understand it because there is no guaranteed proactive sharing of knowledge ]

[the impact on peoples quality of life Can Not be overstated ]
#disability #disabilityUK

A 20s snippet from a dressing gown practice a good few months ago!

#Pianist #Concert #NYE #Piano #Duchenne #EndDuchenneIn10 #WorldsStrongestBoys

Live streaming from 1930 (GMT) on Facebook (Maddy Lygo) & on instagram (@mads.hufflepuff)

FB: https://www.facebook.com/profile.php?id=100009848293569

Insta: https://www.instagram.com/mads.hufflepuff/

Grab a cuppa or glass and hope to see you there! Happy New Year everyone! 🔔

Donations gratefully accepted to our ongoing fundraising page for Duchenne:

https://www.justgiving.com/fundraising/endduchenne

#Pianist #Concert #NYE #Piano #Duchenne #EndDuchenneIn10 #WorldsStrongestBoys

After 3 years of playing hide & seek, Covid has finally got me. I’m confined to my bed & our family NYE won’t be quite as planned.

However, my lovely daughter is undeterred and has decided to issue an invitation for you all.

Please do read this short thread, share widely if you’re happy to, and join her online if you can? Thank you so much ❤️

#Pianist #Concert #NYE #Piano #Duchenne #EndDuchenneIn10 #WorldsStrongestBoys

From Maddy 👇🏻👇🏻

@enricpineda jo n'estic preparant una a Salt. Farem una cursa solidària i també una caminada per recollir fons que aniran directamenta Sant Joan de déu, per la investigació i l'ajuda a les famílies dels nens que pateixen la distròfia muscular de #Duchenne
La nostra associació es diu #SomriuresValents i per 7 euros que costa el dorsal per la cursa del 27 de novembre, tindrem un entrepà, una aigua, una poma i molts regalets. V cursa solidària Duchenne 2022, inscripcions, info web i info SJD