JWMDRC Patient Registries

Our national and international #neuromuscular patient registries are proud to support #RareDiseaseDay!

Learn more about our work at jwmdrc.org/networking/registries

#LightUpForRare #ShareYourColours

“It’s Rare Disease Day!” with the Rare Disease Day hand logo and the website” The background is a blue and purple gradient.

🌍 It’s #RareDiseaseDay 2026! 💜

Today we stand with the 300 million people living with a rare disease. Together, we’re showing our colours, raising awareness, and inspiring change by talking about what equity means to us.

👉 Read more: https://go.rarediseaseday.org/NEWS

It’s not easy to describe our first ever in-person event in ONE word, but we can try!

🎬 The #RaisingYouthVoices2026 short film drops this #RareDiseaseDay.

👉 Subscribe to our YouTube to be the first to watch: https://go.rarediseaseday.org/YouTube

28|02|2026

Raising Youth Voices 2026, Shaping the future of the rare disease community.

Read the full article, www.rarediseaseday.org.

“There’s a stigma around sharing your rare disease, and people are scared to be judged — the internet can be a cruel place.” Liam

“Youth is the hope. If young people learn about rare diseases early, they can change how society treats people like us.” Su

What happens when young rare disease advocates from across the world are given the space to speak, connect and lead?

👉 Read the #RaisingYouthVoices2026 article here: https://go.rarediseaseday.org/article

#RareDiseaseDay #PatientAdvocacy

“Rare on Air Stories” in white text over blue, purple, and green painted streaks, Ren smiles at the camera from a pier in Australia, “Ren, Episode 8.”

🎙️The final countdown to #RareDiseaseDay is on and we’re back with our 8th episode of Rare on Air Stories! 💜

Meet Ren who lives with #CongenitalPanhypopituitarism, a story of resilience and hope in the face of lifelong hormone challenges.

🎧 Listen now: https://www.eurordis.org/rare-on-air/

“Days until Rare Disease Day: 10.” The number “10” is large and white with yellow spark lines around it. The background is a blue and purple gradient, with the Rare Disease Day logo at the bottom and the hashtag “#RareDiseaseDay.”

⏰ Only 10 days to go until #RareDiseaseDay!
Get ready to light up, share your colours, and make the rare visible.

Discover events, toolkits & ways to get involved: https://go.rarediseaseday.org/RDD

Let’s make this year more than you can imagine. 💪

#LightUpForRare #RareDiseaseCommunity

Sign up to our second local FSHD awareness day using the link below. This event was a smash hit last year and we can't wait to run it again! #WorldFSHDday #RareDisease

Now for our big news... I'm delighted to announce that the UK FSHD Patient Registry has now 🌟 RELAUNCHED 🌟 onto our new bespoke registry platform, with improved questionnaires and features!

Visit our website to learn more and sign up today!

👀 www.fshd-registry.org.uk 👀

#FSHD #WorldFSHDday

We were fortunate to attend the @fshdsociety.bsky.social International Research Congress and FSHD Europe Patient Connect meetings last week.

These fantastic events brought together the FSHD community across Europe to make new connections and share research advancements #WorldFSHDday

🍊 Today is World FSHD Day!

📅 Held on June 20th to raise public awareness of #FSHD

🧬 Our Patient Registry helps advance research and development of treatments, therapies, and care for all those diagnosed with FSHD in the UK.

💻 Visit our newly revamped website to learn more: fshd-registry.org.uk

Poster with QR code

Living with, or interested in #Neuromuscular conditions in #NorthernIreland?

Visit qrco.de/bfrgRQ to register for free @mdukcharity.bsky.social Information Day on 4th June.

Our registries team will be there to present our work, answer your questions and support new patient registrations.

🧡👋🧬💻🤝

Fantastic turnout for today's #MyotonicDystrophy awareness day, and lots of interest in signing up to the registry! Learn more about how our team support #NMD patient and research communities by visiting our website JWMDRC.org/networking/registries
💚💬🧬🤝👀

Registry Managers Helen and SAM (and team mascot Reggie 🦁) are on their way to Glasgow to attend the #MyotonicDystrophy Patient Information Day tomorrow. We'll be presenting the UK DM Patient Registry and supporting new registrations, come and say hello if you're coming along! 💚🖐️🧬
#DM1 #DM2 #NMD

Very proud to share our last publication to help improving understanding of the assessment of disease progression in SMA @jwmdrc.bsky.social @mdukcharity.bsky.social @curesma.bsky.social

www.nmd-journal.com/action/showP...

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study - Orphanet Journal of Rare Diseases Background This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia condition...

Sam McDonald, a member of the JWMDRC Patient Registries team, recently supported a paper in the Orphanet Journal of Rare Diseases! 👏

link.springer.com/article/10.1...

How Can Genome Sequencing Be Used for Patient Diagnosis? Genome sequencing can help diagnose patients with rare diseases and unexplained diseases, but many patients can’t access this genetic test. Lack of knowledge and awareness among both clinicians and patients is one of the barriers to access. Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups...

📽️ Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups are more likely to benefit.

#MedSky

@mdukcharity.bsky.social
@pathfindersnma.bsky.social
👀

DMD Care UK are running online, live care workshops for health care professionals on 28th March! 👀

Find out more & register here:
jwmdrc.org/about-us/lat...

#DMD

Our #SMA Data Coordinator Aleks (and our mascot Reggie 🦁) are promoting our #NMD #Patient #Registries at the @mdukcharity.bsky.social Awareness Day in Birmingham today.

Come for a chat, or learn more about how we support #MuscularDystrophy communities online: linktr.ee/jwmdrcregistries

Congratulations on another engaging d thought-provoking #GeneticsMatters event @kasiapirog.bsky.social 👏 Lots of interest in demo's of our new #PatientRegistry platform collaboration with @newcastleuni.bsky.social Research Software Engineering! Our team mascot Reggie even came along to join in... 🦁

I'm proud to represent the UK #DM #PatientRegistry on the #MyotonicDystrophy Global Alliance 💚🎗️

This expert group demonstrates the power and importance of international collaboration in the fight against rare conditions, read more below... 🇬🇧🤝🌍

#RareDiseaseDay
#NMD #DM1 #DM2 #neuromuscular

The UK #MyotonicDystrophy Patient Registry contributed anonymous data from our verified #DM2 patients for this impressive research paper. See more projects and publications we've supported on our website - www.dm-registry.org.uk

#RareDiseaseDay

Together we are stronger - Muscular Dystrophy UK We connect a community of more than 110,000 people living with one of over 60 muscle wasting and weakening conditions, and all the people around them. So everyone can get the healthcare, support and t...

We couldn't run the #UK #MyotonicDystrophy #Patient #Registry without the generous contributions of our charity supporters.

This #RareDiseaseDay, please consider donating to help them continue their fantastic work!

🧡 musculardystrophyuk.org
💚 myotonicdystrophysupportgroup.org
💛 curedm.co.uk

The @jwmdrc.bsky.social national patient registries for #FSHD and #MyotonicDystrophy are proud to support #RareDiseaseDay!

Our work to help advance #neuromuscular research is not possible without pioneering patients, parents & families sharing their health data - a huge ⭐️THANK YOU⭐️ to you all! 👏🏅📝

#Nutrition matters for people with rare diseases because of vitamin and mineral deficiencies, difficulty swallowing or the need for specialised diets.

➡️ #MedicalNutrition can be an essential treatment and is often the only viable treatment for certain metabolic disorders.

#RareDiseaseDay

A disease is rare when it affects fewer than 1 in 2,000 people.

Rare diseases – by the numbers:
🦓300M people with rare diseases
🦓3.5 – 5.9% of the population
🦓72% are genetic diseases

rarediseaseday.org/heroes/

#RareDiseaseDay

#RareDiseaseDay | How can we make rare disease research more effective and impactful? 🔍
Anabela Isidro, co-leader of (Inter)national Capacity Alignment at ERDERA (AICIB), explains how collaboration is key to driving progress in rare disease research. 🌍🤝
Learn more! 👇

Great idea!

Looking forward to our first Rare Disease Day on #Bluesky tomorrow! 🦋📅

The registries team are preparing our online content today using free resources provided by www.rarediseaseday.org 🖐️🧬

Please help to share information and raise awareness by reading & sharing #RareDiseaseDay posts on #28Feb 👀💻

Data Coordinator Lucy with registry posters

Data Coordinator Aleks with registry posters

The curators' meeting was also a fantastic opportunity for our newest team members, Data Coordinators Lucy and Aleks, to learn more about the network and meet the rest of the TGDOC family. They presented registry posters, made lots of valuable connections and represented our team brilliantly! 👏🧬