Beacon for Rare Diseases

21/08/2026

Who might you bump into at Cambridge Rare Disease Network’s on 7th October?

Beacon of course!

We'll be there as an exhibitor, so make sure you come to say hi 👋

Join CamRARE to catch up with familiar faces or make new connections, and be part of the conversations shaping the future of rare diseases.

Bringing together researchers, clinicians, innovators, and people with lived experience, this event is a fantastic opportunity to collaborate across every corner of the rare disease community.

There will be lots of opportunities to network - over coffee, at posters and exhibition stands, in informal meeting booths or ‘virtually’ via Swapcard.

Tickets: https://loom.ly/tP5UA8g

20/08/2026

Praise for our course 'How to collaborate with medical professionals' 🤗

"This course has provided me with the appropriate terminology and highlighted different methods to start engaging medical professionals, through face to face, e-learning and website design, and how we might develop materials in the future.

We are a VERY new body for Thoracic Outlet Syndrome, so this course will help us to start creating and developing our new website in the right way. Thank you Beacon."

The course explains how patient groups can get involved with medical education, outreach and raise awareness of their disease among medical professionals.

Interested?

Enroll in the course through our Resources Hub: https://loom.ly/5vQ1YYQ

Thank you to Costello Medical for providing pro-bono support in the creation of this course.

20/08/2026

Last week, Hannah, our Head of Patient Group Programmes and Maddie, our Senior Patient and Scientific Engagement Officer, headed to London for Novo Nordisk & Atlantis Health's Herd to be Heard workshop!

It was a great day full of informative speakers and perspectives on Health Technology Assessment (HTA). 🗣️

HTA is a structured research process that evaluates the clinical safety, cost-effectiveness, and wider social or ethical impacts of medical treatments, devices, and systems.

The workshop centred around equipping and enabling patient groups to confidently and effectively contribute lived experience, unmet needs, and real world treatment impact to HTA decision making.

The day explored the barriers and challenges of patient groups in getting involved in the HTA process through interactive forums and expert panels. The team enjoyed hearing such open perspectives and experiences of HTA, and made valuable connections throughout the day.

Thank you Novo Nordisk and Atlantis Health for creating such an insightful day! 💡

Interested in learning more about HTA?

Watch our webinar on The Resources Hub, which was produced in collaboration with Realise Advocacy, to learn how to prepare for HTA and hear from patient groups on their unique experiences of navigating the process: https://loom.ly/9NZmxuw

19/08/2026

'We are not asking for sympathy. We are asking for understanding, equitable treatment and the opportunity for people living with Stiff Person Syndrome (SPS) to receive the safest, most appropriate care possible.' 🗣️

Those are the words of Andrea, whose husband Ian lives with the rare condition SPS. Stiff-person syndrome is a rare, progressive autoimmune neurological disorder affecting about one to two people per million. It causes severe, painful muscle stiffness and spasms.

She details Ian's experience of living with SPS, explaining that 'SPS is like a thief that comes in the night and tears up the rule book'.

Andrea's focus is now not only on raising awareness, but also calling for improvements in the care and treatment of people living with SPS, including access to a nasal spray that's already available in several other countries that has the potential to make a life-changing difference during prolonged and severe spasms.

Read her blog to hear Ian's story and sign Andrea's UK parliament petition👉 https://loom.ly/SjnnDA8

The Stiff Person Syndrome Research Foundation

19/08/2026

When Gary Naccarato, an Emmy Award-winning Executive Co-Producer, was diagnosed with Neuro-Behçet’s disease, it changed more than his health.

Neuro-Behçet’s disease is a rare form of vasculitis affecting the central nervous system. Vasculitis causes inflammation of the blood vessels which restricts blood flow and can damage the brain and spinal cord, leading to loss of brain function, stroke and even life-threatening conditions.

The diagnosis reshaped his identity, and led him from film and television to a completely different career. Not only did it impact his physical health, but it also carried a neurological weight, affecting his emotions, thinking, and sense of self.

He emphasises that his support system, from his rheumatologist (a medical doctor who specialises in diagnosing and treating autoimmune, inflammatory, and musculoskeletal conditions) to his husband, were who helped him through.

He learnt that 'recovery involved more than medication alone', and started practising mindfulness and relaxation techniques to 'feel safe' in his 'own body again'. 🫂

He is now in remission since 2021, and never takes having his life back for granted. He now practices hypnotherapy, is writing a memoir about his experience, hosts a podcast exploring the subconscious mind, creativity, and healing, and hopes to spend more time speaking publicly about resilience, identity, and recovery.

His advice for others who are newly diagnosed?

Be kind to yourself, 'your body is fighting something incredibly difficult.'

Gary hopes his story reminds others living with vasculitis that even after profound loss, recovery can include not only remission, but the opportunity to build a meaningful new life.

Read on for more of Gary's story: https://loom.ly/jGUK1qg

Vasculitis Foundation

18/08/2026

Are you a parent navigating a rare disease diagnosis?

Join Unique - Rare Chromosome Disorder Support Group and NHS South East Genomic Medicine for the national launch of their guide 'Finding your way: A Parent's Guide to Rare Disease'

Date: Wednesday 16th September📅
Time: 12pm - 1pm

The event will be hosted by Sarah Wynn, CEO of Unique - Rare Chromosome Disorder Support Group and Frances Elmslie, Consultant Clinical Scientist.

Written by parents, for parents, this new guide offers practical support and trusted resources for families navigating being diagnosed with a rare genetic condition.

You'll hear stories from the parents who wrote the guide, Adam Clatworthy and Mel Dixon, on their journey to find the right support.

By joining, you'll hear personal experiences of receiving a child's rare disease diagnosis, helping to form stronger connections with the rare disease community.

Register for the online event 👉https://loom.ly/qIcQoSg

Creld1 Warriors Cure DHDDS

18/08/2026

Join Wales Gene Park at their Genomics Showcase for North Wales!

You'll learn about cutting-edge research and how genomics is shaping the future of health and medicine in Wales and beyond.

Genomics is transforming medicine and healthcare. Be part of a day of discovery, learning, and inspiration which will highlight some of the latest advances in this exciting area. 👏

The event and programme have been designed together with Genomics Partnership Wales’ Patient and Public Sounding Board, ensuring that patient voices are at the heart of the day. It is designed to offer value, insight, and inspiration for everyone.

Date: 19th November 📅
Location: In person at Venue Cymru, Llandudno 📍

Highlights of the day will include:

• Informative and engaging talks and panel discussions
• Patient talks and lived experiences
• Exhibition stands, posters and hands-on activities
• Networking opportunities

Whether you’re a health professional, researcher, patient, or a member of the public interested in this topic, this in-person event is a chance to explore how genomics is changing lives.

Book your place today! https://loom.ly/PkUYsdQ

17/08/2026

Ready to ace media interviews? Join Media Trust's online training that's specifically tailored to charities to learn tips and tricks for speaking to the media with confidence 💡

Gain essential insights on TV and radio etiquette, different interview styles, and how to respond effectively when journalists reach out.

Date: Tuesday 22nd September 📅
Time: 10am - 12pm
Location: Online📍

You'll learn how to:

• Promote your work and positive stories to a broad audience.

• Learn from both successful and less effective media interviews.

• Understand the media landscape, identify media opportunities, and grasp key principles for handling interviews.

• Confidently represent your organisation in interviews and publications and recognise what constitutes a compelling story.

• Communicate key messages clearly in press, radio, or TV interviews and manage difficult questions effectively.

Don't miss out! Book your place here 👉https://loom.ly/N-jtK1E

Get ready to ace your media interviews and learn valuable tips and tricks specifically tailored for charities I do feel that the training has certainly improved my confidence, reinforced some of my current practices and delivered exactly what the course title is – lots of tips and tricks! Gain ess...

14/08/2026

In need of a feel-good Friday story? 🤗

A pioneering procedure saved a boy with a rare heart condition, paving the way for similar treatments for other children diagnosed with severe heart failure.

Elliot was diagnosed with middle aortic syndrome at just 11 months old.

But thanks to live changing operations at Great Ormond Street Hospital and Charity, 'his quality of life has improved significantly, and he's back to doing the activities every child his age should be able to enjoy'. 🧡

Read the full article to find out more 👉 https://loom.ly/lRU_ibM

13/08/2026

Pregnancy Associated Osteoporosis (PAO) has been recognised as a rare type of Osteoporosis for the first time by the National Institute for Clinical Excellence (NICE)! 🥳

This news demonstrates what can happen when lived experience and scientific expertise come together - Pregnancy Associated Osteoporosis - PAO UK Co-Chairs Professor Stuart Ralston and Karen Anne Whitehead MBE served as NICE Osteoporosis guideline and quality standard update committee members👏

Karen Anne Whitehead MBE, who has PAO herself, emphasised that 'having PAO recognized like this by NICE helps validate this is a real condition and helps raise awareness. It is a small but powerful change that can hopefully help lead to improved diagnosis and improved care for women in real need.'

Read more about PAO and PAO UK's work over on their website 👉https://loom.ly/g7Vs6KY