GNE Myopathy UK

08/04/2026

Hi everyone

Hope you’re managing to enjoy some of these glorious rays that were (very randomly) experiencing in the UK. ☀️

Just wanted to let you know that the Ultragenyx trial is now listed on the official gov site. It’s not yet recruiting though.

31/03/2026

Hi everyone,

Some promising news to share with the community!

💗 Ultragenyx Pharmaceutical has received FDA clearance to begin a clinical trial for a potential new treatment for GNE myopathy (called UX016). 💚

What this means in simple terms:
• The treatment can now move into human trials (Phase 1/2)
• The study is expected to start later in 2026
• It will look at safety first, but also whether it can help muscle function

This treatment is designed to help the body better deliver sialic acid to muscles, which is something people with GNE myopathy struggle to produce.

It’s still early days, and there’s no guarantee yet, but this is an important step forward, especially as there are currently no approved treatments.

Also worth noting: this work is being supported through a patient-led funding approach, which shows the power of our community in driving research forward 💪🏽

As always, I’ll share updates as things progress.

What are your thoughts on this?

28/02/2026

Today is Rare Disease Day 🦓 A day that recognises the strength, resilience and reality of people living with conditions that are often overlooked.

💙🧡💚💜🩵🩷💙🧡💚💜🩷🩵

To mark the day, the Neuromuscular Disease Foundation has shared a powerful video. It’s presented by one of their Board Members, who is also living with . He speaks honestly about their work to push forward research towards a treatment, with real hope in gene therapy.

Progress can feel slow when you’re living it every day. But work is happening. People are fighting. And hope is very real.

If you have a few minutes, it’s worth a watch:
https://fb.watch/Fy_xu9md6a/

Here’s to visibility, research, and meaningful change. 🙏🏽

15/02/2026

I’m sharing this on behalf of a fellow GNEM-er, Prajakht Deotale. His brilliant twin daughters, Amaira and Eva, are campaigning to make disability and neurodiversity inclusion a real priority in education.

They’re asking for one simple thing: your support.

✍️ Please take a moment to sign the petition below. If you’re able to, share it with friends, family, and your networks. Small actions add up.

https://c.org/kWVLzGXkJw

Let’s help build an education system where every child feels seen, supported, and able to thrive.

Thank you. 🙏🏽

Add disability inclusion to the national school curriculum

25/09/2025

National Association of Disabled Staff Networks

What if our deepest assumptions about disability are holding us all back?In this deeply personal and inspiring talk, 11-year-old twin changemakers Amaira and...

25/09/2025

❓What if the way we think about disability is what’s really holding us back❓

Meet Amaira & Eva Deotale - 11-year-old twins, changemakers, and daughters of our fellow GNEM warrior, Prajakht Deotale. 🥊

In their inspiring TEDx talk, “Rethinking Disability”, they share how growing up alongside their dad has shaped their mission to build a kinder, more inclusive world.

💜 From founding the ‘Being Purple’ campaign at just 7 years old, to writing books* and speaking up for equality, these girls are breaking barriers and proving that age is no limit to making a difference. 🙌

🥹 I’m so proud to share their message with you all — it’s powerful, heartfelt, and a must-watch:
🔗 https://youtu.be/OdGnxbDZ-vc?si=yRe4fUzkFoSY1yRm

📚 *Amaira & Eva’s story books can be found on Amazon:
https://amzn.eu/d/7Hh73iQ
https://amzn.eu/d/hTFeZmL

Please watch/read and share!

What if our deepest assumptions about disability are holding us all back?In this deeply personal and inspiring talk, 11-year-old twin changemakers Amaira and...

24/09/2025

💎 Have you discovered Rare on Air yet? 💎

It’s a monthly podcast from EURORDIS-Rare Diseases Europe that dives into the real stories of people living with rare conditions – their challenges, their triumphs, and the ways our community is working to shape a better future together. 🌈

Whether you’re looking for inspiration, understanding, or just a reminder that you’re not alone on this journey, these episodes are well worth a listen. 🎧

👉 Check it out here:

In our new monthly podcast, Rare on Air, our Communications Manager, Julien Poulain, meets with people who live with a rare disease, those who advocate for them, and experts on rare disease policy. The podcast explores the unique experiences, challenges and successes of people from our community, an...

22/09/2025

🇮🇪 National Rare Disease Strategy in Ireland

Big news from Ireland - the Minister for Health has launched the National Rare Disease Strategy 2025–2030. This plan aims to make a real difference by improving diagnosis, treatment, and support for the 300,000 people in Ireland living with rare conditions.

Vicky McGrath, CEO of Rare Diseases Ireland, welcomed the strategy but reminded everyone that implementation is what really matters. Ensuring that the voices of patients, families, and support groups are heard as equal partners will be key to its success.

💚 It’s encouraging to see progress like this and a reminder of why continued advocacy is so important in all our communities.

22/09/2025

🌟 Beacon for Rare Diseases Workshop 🌟

Beacon for Rare Diseases is running a hands-on workshop, “Let’s Get Down to Business,” on Thursday 23 October in London, UK.

This event is designed especially for patient groups and will:

✅ Break down the essentials of business planning
✅ Show why it matters and how to measure impact
✅ Help you start shaping a practical plan for your organisation’s future
✅ Offer the chance to connect and share experiences with others in the rare disease community

Don’t miss this opportunity to gain valuable skills and insights for your group’s journey.

👉 Register now to secure your place!

Join us in London to learn the key principles of business planning and how it's essential for building sustainable patient groups!

05/07/2025

🚗 Disabled drivers, this one’s for you! ♿️

I just discovered a game-changing app called ‘FuelService’ – and I had to share it. It helps disabled drivers, especially wheelchair users, fuel their vehicles without the stress of wondering if assistance will be available at the pump. ⛽🙌

You simply select a nearby station and the app contacts them ahead of time to check if someone can help you. No more sitting there awkwardly or driving around hoping someone will come out.

It’s simple, free, and incredibly helpful. Please pass this on – it could really make a difference for someone. 💜

23/06/2025

🌟 New App for Rare Disease Support: RareCompanion 🌟

Hi everyone,

I wanted to share something that could be really helpful for our GNEM and rare disease community…

RareCompanion is a free, AI-powered app created by a GNE Myopathy patient and her husband to support rare disease patients and their families. It’s designed to offer 24/7 companionship, understanding, and practical support - all in a private, secure space.

✨ Key features:
• 24/7 AI companionship tailored to rare disease experiences.
• Symptom and mood tracking.
• Disease-specific info and resources.
• Total privacy — you can sign up with any email or even a nickname.
• A space to feel seen, heard, and supported.

Want to try it? Join the beta program here:
👉 rarecompanion.ai/signup

If you need help setting up your account or have any questions, feel free to contact Parva Thakkar at 📧 parva.thakkar@gmail.com - he’s happy to support you!

You’re not alone. Wishing everyone continued strength and community. 💪🏽💙

26/05/2025

Great news! 🗞️

🚨 Breaking news! 🚨

The World Health Assembly has just adopted its first-ever Resolution on Rare Diseases — a milestone that places the health and inclusion of the 300 million people living with a rare disease firmly on the global health agenda.

This Resolution sends a powerful signal to policymakers worldwide: rare diseases are now recognised as a global health priority. It affirms their duty to advance universal health coverage and to build equitable, people-centred health systems.

EURORDIS warmly welcomes this development.

We commend the leadership of Spain, Egypt, and all co-sponsoring countries, and we thank WHO for recognising the unique challenges faced by people living with a rare or undiagnosed disease.

We stand ready to contribute to the 10-Year Global Action Plan this Resolution mandates — and to work alongside our international partners to ensure this momentum delivers lasting impact.

Our global community should feel proud today — even if the world we want to achieve still lies ahead.

👉 Learn more from Rare Diseases International: https://go.eurordis.org/iyFxZd