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RAREsummit Legacy in Action

RAREsummit Legacy in Action

by | Mar 30, 2026 | Collaboration, Community, Events, Patient experience, Patient Groups, RAREsummit, RAREsummit25

Where Connections Become Breakthroughs

The opening “Legacy in Action” panel at RAREsummit25, demonstrates just how valuable the connections made at past RAREsummits can be. In a space often defined by complexity, long timelines, and uncertainty, this session perfectly illustrates that when the right people meet, real change happens.

Through three personal and powerful stories, the panel showed us that RAREsummit is more than a conference – it’s a catalyst.

From Back Row to Breakthrough

Andy Kulina’s daughter Olivia has Phelan-McDermid Syndrome, a rare genetic condition affecting neurological development. When initially diagnosed Andy found himself, like so many other parents navigating rare disease, thrust into a world of scientific papers, complex biology, and limited options.

Armed with persistence (and a self-confessed “fixer” mindset), Andy decided to ‘do something’.

When he found out about CamRARE’s RAREsummit, through his family’s membership of CamRARE’s Unique Feet community, he came along with a mission: to find the people who could help turn a promising scientific idea being explored in Europe for those with Phelan-McDermid Syndrome – nasal insulin – into a clinical trial here in the UK, to allow UK families to access the potential benefits. He sat quietly at the back and listened, took notes, pitched, and connected with researchers and funders.

Fast forward to today, and the idea is becoming reality thanks to the partnership Andy forged with LifeArc. Since this panel discussion with Andy and Sam Barrell (CEO of LifeArc), a clinical trial at King’s College London has secured approval, and with over 150 participants pre-registered, it’s off to a flying start (read more here).

An extraordinary leap in such a short space of time (in the context of the world of research) due Andy’s tenacity.

Building Understanding, Building Community

While Andy’s story shows the power of momentum, the journey of Allison Watson and Shirlene Badger (of Illumina) illustrates the importance of patience, collaboration, and education.

Their story began six years ago at RAREsummit19, with a simple but bold question about diagnosing Ring Chromosome 20 syndrome. That moment sparked a partnership between patient advocacy and industry, eventually leading to the creation of the Unravel Project, designed to help educate families about the condition. 

What started as a challenge quickly became a global effort. Weekly meetings with families, scientists, and industry experts evolved into an educational platform, helping patients understand their diagnosis and engage more meaningfully with healthcare and in research.

Crucially, Unravel also laid the groundwork for patient recruitment into studies—bridging a gap that often slows rare disease research. Along the way, the team uncovered deeper scientific questions, shifting the focus from simply identifying the condition to understanding its underlying causes.

We need more than diagnosis. Diagnosis is not an endpoint. We need accuracy, and we need to be able to do something more.
Shirlene Badger

Illumina

Their journey hasn’t been easy. It’s been marked by setbacks, emotional moments, and complex logistical challenges. But it’s also been transformative—building a global community of informed, empowered families and creating new pathways for research.

As one participant put it, the ultimate goal is simple yet profound: A world where having Ring 20 no longer has a severe impact on life.

Serendipity and Science

The final story of the session captured the magic of chance encounters and the importance of staying open to them.

Laura Hattersley, founder of CASK Research Foundation and mother to a daughter with a rare CASK gene mutation, attended RAREsummit without a clear agenda. Like many new to the space, she simply knew she needed to connect with others.

That decision led to a conversation with Emma Davies, a scientist working in drug discovery with Healx. Their initial meeting was brief, but the connection stuck and months later, when Laura shared a potential discovery online, Emma stepped in to see if she could help.

Emma provided guidance on drug development pathways, and when the initial idea was found to be unviable, she was able to help identify alternative routes for further research. She later joined the foundation’s advisory board, strengthening the project’s scientific direction.

For Laura, this support turned uncertainty into a clear path forward. For Emma, it was a chance to use her expertise to make a direct impact.

Their story is a reminder that in rare disease research, progress doesn’t always come from formal structures. Sometimes, it starts with a conversation over lunch at RAREsummit!

Cambridge Rare Disease Network - RAREsummit Legacy in Action 1

A Shared Thread: Connection Creates Change

Across all three stories, one theme stands out: connection.

When we set out to create RAREsummit, to bring together patients, families, scientists, funders, and industry leaders we couldn’t have hoped for better than these fantastic examples. We are here to create the space for ideas to be shared, partnerships to form, momentum to build and barriers to be broken down.

Rare diseases are, by definition, complex and often under-resourced. Progress can be slow, and the challenges immense. But as this panel demonstrates, collective effort changes the equation and accelerates progress.

The stories are all different but share one key similarity – every year real people have been helped by the ideas that RAREsummit fosters.
Jack Pagett

RAREsummit25 Volunteer

Cambridge Rare Disease Network - RAREsummit Legacy in Action 2

RAREsummit26

It’s your opportunity to be part of the next story—to make the connection that sparks a breakthrough, to share your experience, or to find the collaborator you didn’t know you needed. Whether you’re a researcher, clinician, industry partner, or patient advocate, your voice and your perspective could be the missing piece in someone else’s journey.

Because when people find each other in the right space, at the right moment, legacy isn’t something we talk about it’s something we build together.

Join us at RAREsummit26

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Navigating Mental Wellbeing – Highlights from RAREsummit25

Navigating Mental Wellbeing – Highlights from RAREsummit25

by | Feb 5, 2026 | Collaboration, Community, Events, Healthcare, Mental Health, Patient experience, RAREsummit, RAREsummit25

Challenges, strategies and insights for supporting mental health while living with a rare condition

Living with a rare condition, or caring for someone who does, can take a profound toll on mental wellbeing. While healthcare systems tend to prioritise diagnosis and physical symptoms, emotional health is frequently left unsupported. At RAREsummit25, this gap was explored from two complementary angles: a panel discussion grounded in lived experience and a workshop examining social listening as a way to capture community-wide insights. Together, they offered a compelling picture of what mental wellbeing means in rare disease and how it could be better supported.

Watch the full panel session on our YouTube channel.

Lived experience: mental health as part of everyday survival

The panel session “Navigating Mental Wellbeing” chaired by CamRARE trustee Loretta MacInnes, brought together Tom Staniford, Kelly Kearley, and Max Fisher. Despite their different backgrounds, as a marketeer and rare disease patient, a parent and counsellor, and a scientist living with multiple rare conditions, their reflections strongly aligned.

A central theme was that mental and physical health cannot be separated. Tom, who lives with the ultra-rare MDP syndrome, described how focusing on managing symptoms, rather than waiting for a definitive diagnosis, gave him a sense of control and stability. While he acknowledged this approach will not work for everyone, it highlighted how practical support can meaningfully reduce distress.

I fear that sometimes we prioritise the diagnosis rather than the treatment, when quality of life could be improved by addressing symptoms we can treat.

Tom Staniford

Kelly spoke powerfully about the emotional impact of her son’s diagnosis with PTEN syndrome. The grief she experienced was not about losing her child, but about losing the future she had imagined. The absence of appropriate mental health support contributed to years of depression and ultimately motivated her to retrain as a psychotherapeutic counsellor, specialising in rare disease and disability at Mind Over Matter Therapy.

I didn’t lose my child, but I grieved for the life I thought he was going to have.

Kelly Kearley

Max reflected on their own mental health journey, emphasising that wellbeing is not about constant happiness, but about coping without being overwhelmed. They also highlighted the role of intersectionality, noting that mental health support often fails when different aspects of your identity are treated in isolation.

Sometimes living with the rarity is the hardest part, not the specific rare disease itself.

Max Fisher

Across the panel, there was clear agreement that mental health support is rarely offered proactively. Patients and carers must often ask, and fight, for help, at times when they have the least capacity to do so.

The panel called for a more holistic, empathetic, and flexible approach, with mental wellbeing embedded into rare disease care from the point of diagnosis.

Listening at scale: insights from social listening research

RAREsummit25 also featured a workshop exploring mental wellbeing through social listening, facilitated by Lauren Roberts from Rareminds. Social listening is a method of analysing online conversations to understand people’s thoughts and experiences, particularly around sensitive topics like mental health.

A recent Rareminds project analysed over 54,000 public social media posts related to rare conditions and mental wellbeing. Key themes included uncertainty, diagnostic challenges, social strain, and emotional distress, such as grief, anxiety, caregiver exhaustion, isolation, and suicidal ideation – closely mirroring the panel’s lived experiences.

Image of people talking around table taking notes on a large piece of paper in the centre of the group.

The workshop highlighted both the opportunities and challenges of social listening. While issues such as data authenticity, representativeness, privacy and safeguarding were widely acknowledged as requiring careful management, the approach offers powerful potential: amplifying patient voices, informing research and policy, supporting understanding of real life issues, and deepening insight into what quality of life truly means.

Watch Lauren’s testimonial video on our YouTube channel.

A shared message: listen, integrate, and act

Together, the panel and workshop delivered a unified message. Mental health is more significantly impacted in people with rare conditions than the general population, yet remains inconsistently supported.

Meaningful change will require better listening, more integrated care, and a commitment to treating emotional wellbeing as essential, not optional, within a holistic approach to rare disease support.

Photos ©JermeyPeters.com & Videography ©ceresproductions.com

Join us for more lived experience insights at our Rare Disease Day event at the Cambridge Biomedical Campus on 27th February 2026

Living Rare for Rare Disease Day

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Breathing Life Into Existing Technology – Highlights from RAREsummit25

Breathing Life Into Existing Technology – Highlights from RAREsummit25

by | Nov 19, 2025 | Collaboration, Events, Med tech, Patient experience, RAREsummit, RAREsummit25, Technology

How a Father, a Designer, and a Bold Idea Are Changing the Future

This powerful presentation followed two insightful panel discussions at #RAREsummit25, firstly exploring the power of collaboration and secondly showcasing a selection of patient led research ideas. It set the stage perfectly for James Oakley and Duncan Foster Fitzsimons to share their own remarkable story of innovation, perseverance, and patient-led problem-solving.

Photo of James and Duncan on stage with a slide showing the vento wearable device in the background

When James Oakley’s son Casper falls asleep, he stops breathing.

That’s the reality of Congenital Central Hypoventilation Syndrome (CCHS) – a lifelong, life-threatening rare condition where the nervous system is unable to control breathing and oxygen levels. Those with CCHS don’t sense rising CO₂ and are unable to adjust their breathing. Families are often told their lives will be limited: no travelling, no freedom, constant vigilance.

James and his family refused to accept that.

Within a week of Casper’s diagnosis, they decided to do something, not just to help their son, but to push the entire field forward. What followed has been a journey of grit, creativity, and relentless problem-solving.

Finding the right people, and not taking “no” for an answer

James started with what he jokingly calls his “crime map” – a mind-map of everyone and everything that might help. He politely, persistently pursued world-leading specialists until they agreed to support his mission. The geneticist who discovered the CCHS gene is now on his advisory board. A journalist he met at his son’s nursery helped him spread the word and connect with more experts. By building strategically and quickly, James created a network capable of making real progress.

He built a company: Keep Me Breathing, and he began pursuing an idea many people thought impossible: Could we build a pacemaker for breathing?

Today, they are in phase 1, of 3, of developing exactly that. An Adapted Respiratory Modulation Interface, the breathing equivalent of a cardiac pacemaker. If successful, it could transform the lives of people with CCHS.

Enter a designer willing to push boundaries

To explore that idea, James teamed up with Duncan Fitzsimons, Director of 7th Design, a product development company known for tackling complex healthcare challenges.

Together, they have created VENTO, a portable CO₂ monitoring device designed to:

  • Sense CO₂ inside the body and in the surrounding environment
  • Alert users to dangerous peaks and dips

It sounds simple, but nothing like it existed. No portable CO₂ monitor on the market came close to what they needed. So they started from scratch—building early prototypes based on every piece of research they could find.

Testing VENTO meant long sessions of exercise, breathwork, and controlled environmental experiments. Many attempts failed. 

It was a huge challenge control the local environment on the skin, and finding ways to filter out all the real world noise in the wider environment that mess up readings, but by methodically solving one problem at a time, something promising emerged.

It was like trying to hear a really quiet noise in the middle of a music festival

Duncan Foster Fitzsimons

7TH Design

VENTO now reliably establishes a baseline after about 15 minutes, then tracks peaks and troughs in CO₂ levels, allows trends to be established. In a live on stage demo, both James and Duncan wore devices broadcasting through their own built-in Wi-Fi hotspots. 

Most importantly, VENTO can issue a breathing reminder if CO₂ rises, making it potentially lifesaving for people with CCHS.

Why VENTO is more than a medical device

One of the project’s most strategic decisions was to explore how VENTO could be used for non clinical uses, particularly in monitoring performance in sport.

Positioning VENTO beyond rare disease widens the investment appeal, speeds up testing, and generates more real-world data. It also helps build a stronger commercial case for on-the-go CO₂ monitoring and data that can ultimately support medical validation.

“Acting like a business helps you to progress products,” James says. For many patient-led groups, this mindset shift could be transformative.

I hope very soon I’ll be able to say that this technology is changing people’s lives by making them healthier and safer every day.
James Oakley

Keep Me Breathing

A blueprint for patient-led innovation

Many patient communities have amazing ideas but little clarity on how to move them forward. James and Duncan’s collaboration shows that it is possible – likely challenging, slow, and a hard slog, but absolutely possible – to turn lived experience into breakthrough innovation.

From early failures to promising prototypes, their journey reflects what happens when determination meets design, and when parents refuse to accept the limits placed on their children’s lives.

VENTO isn’t just a device.
 It’s a breath of possibility—and a powerful reminder that transformative ideas can start at home.

View RAREsummit25 YouTube playlist for more

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Progress, Partnership, and Possibility – Highlights from RAREsummit25

Progress, Partnership, and Possibility – Highlights from RAREsummit25

by | Nov 11, 2025 | Education, Events, Raising awareness, RAREsummit, RAREsummit25

Cambridge Rare Disease Network marks 10 years of collaboration at RAREsummit25.

The Cambridge Rare Disease Network (CamRARE) celebrated its 10th anniversary in inspiring style, as 250 delegates gathered on 6 November at the Wellcome Genome Campus for RAREsummit25, marking a decade of progress, partnership, and purpose in the rare disease community.

The event brought together people from across the rare disease ecosystem — patients, families, researchers, clinicians, industry leaders, policy-makers, and advocates — to explore the future of research, care, and innovation. Across keynotes, breakout sessions, and panel discussions, one message echoed throughout the day: real progress happens when partnerships endure.

Photo of Jo Balfour presenting the introduction to Rare Summit 25, with a slide showing 10 moments in the last 10 years of CamRARE.

Reflecting on the milestone, Emma Green, CamRARE’s Chair of Trustees, emphasised the importance of these shared spaces:

“It’s really important to bring the rare community together in places such as the Rare Summit to give everyone an opportunity to voice their challenges, their concerns, their needs in this space. It’s all about the connections — families looking for treatments or diagnoses for their children who can meet researchers working on such things. But they also get to meet other families, other individuals who are going through the same journey.”

It’s all about the connections — families looking for treatments or diagnoses for their children who can meet researchers working on such things. But they also get to meet other families, other individuals who are going through the same journey.

Emma Green

CamRARE

That sense of connection — of finding community within the complexity of rare disease — ran through every conversation. For Stacey McGeown, a parent and researcher from Queen’s University Belfast, the summit offered both knowledge and hope:

“The reason I’m here today is because I am a mom of a child that has an extremely rare bleeding disorder. Whenever you have a child that has a rare disease, you feel a lot of isolation and loneliness. So, we’re here to learn and connect. It’s been inspiring to see that so many of the speakers started as passionate parents — it gives us hope that we can progress as well.”

A Decade of Impact

The summit’s opening session, Ten Rare Moments and Legacy in Action, celebrated CamRARE’s achievements over the past decade — from shaping policy and co-designing research to building communities that empower people with lived experience. The charity’s initiatives, including the Rare Disease Research Network (RDRN) and the Rare Patient Passport, have helped transform how research and healthcare systems listen to and involve patients.

Mental Health and Wellbeing

A major theme woven through the day was mental health — a critical yet often overlooked part of the rare disease experience. Lauren Roberts from the charity RareMinds captured this perfectly:

“Discussing mental health here at the RAREsummit is a really vital part of everything that’s been discussed today. Whether the session is about mental health specifically or about self-advocacy and diagnosis struggles, we know this always has a mental health impact. I loved the wellbeing panel — they showed that the support people need isn’t rocket science. Often quite small things could make a really big difference.”

I loved the wellbeing panel — they showed that the support people need isn’t rocket science. Often, quite small things could make a really big difference.

Lauren Roberts

Rareminds

Human Rights, Advocacy and Innovation

Breakout workshops allowed participants to dive deep into topics such as human rights, youth engagement, and innovation. Max Fisher, a rare patient and scientist at Vianatus, highlighted how these sessions spark change:

“The breakout sessions have been absolutely fantastic. I particularly enjoyed the human rights quiz workshop with Dr Lucy McKay. We got to see how human rights and rare disease intersect and how we’re going to move forward on this journey with those two hand in hand.”

Technology, Data and Ethics

Among the event’s standout sessions was a focus on technology and data — exploring how innovations like Digital Twins, AI, and data-driven modelling can accelerate diagnosis and personalise care. Speakers also reflected on the responsibility that comes with progress, highlighting that data must serve people, not systems.

Powering Collaboration

For many, the day wasn’t just about discussion — it was about forging practical partnerships through the ample networking opportunities provided in the exhibition and poster zones and the post event dinner. James Oakley, co-founder of Keep Me Breathing, a startup developing a CO₂ monitor for children with the rare condition CCHS, summed it up:

“The RAREsummit is so important because it can accelerate everything we’re doing. We’re now speaking with companies such as Alexion, as well as making amazing new contacts who have offered to help us in what we’re doing. And you can’t buy that.”

We’re now speaking with companies such as Alexion, as well as making amazing new contacts who have offered to help us in what we’re doing. And you can’t buy that.

James Oakley

Keep Me Breathing

Photo of the rare summit audience, with four women in the foreground smiling and clapping

Looking ahead

As CamRARE unveiled its new strategy — focused on community, research, and shared purpose — the atmosphere was one of optimism. The next decade promises breakthroughs in digital health, epigenetics, and pioneering therapies, but the charity’s leaders were clear that progress must remain patient-centred and collaborative.

Closing the summit, the message was simple yet powerful:

Progress in rare disease is no longer defined by isolated effort, but by shared purpose. The hope is that no one living with a rare condition will ever feel alone — and that every step forward, from lab to policy, will be powered by empathy, equity, and connection.

View YouTube playlist - more coming soon

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RAREsummit returns to Cambridge for 2025

RAREsummit returns to Cambridge for 2025

by | Aug 5, 2025 | Collaboration, Education, Events, Patient experience, Raising awareness, RAREsummit, RAREsummit25, Technology

CamRARE’s unique biannual conference is back for 2025 – gathering scientists, researchers, tech innovators, policy-makers, funders and patient organisations to connect and collaborate.

Did you know that the CamRARE charity was formed following the first RAREsummit in 2015?  So this year we will be reflecting on…

A decade of progress. A future of possibilities.

Click below to watch the highlights film from 2023 and get as taste of what’s to come.

The programme for 2025 is already packed with brilliant and unique content. Read on to find out more.

Book RAREsummit25 tickets

Spotlight on RAREsummit Alumni: Beyond Blood Diagnostics

At RAREsummit23, we were proud to provide a platform for emerging tech innovators to pitch solutions to real-life challenges faced by those living with rare conditions.

The winner of our innovation pitching challenge, Beyond Blood Diagnostics, wowed the judges with their vision for home-based blood testing to reduce hospital burden and improve access to diagnostics.

Cambridge Rare Disease Network - RAREsummit returns to Cambridge for 2025 3

Since then, they’ve worked with Health Innovation East and CamRARE to explore the need for their solution within the rare disease community and build a strong business case.

We’re thrilled to welcome them back to RAREsummit25 as part of our “Where are they now?” Impact Stories from RAREsummit alumni session — and this time, they’ll also be exhibiting and demoing their tech! Don’t miss the chance to see how far they’ve come and what’s next.

Spotlight on Panels: Rare Disease Research Network (RDRN) Showcase

Following the launch of the Rare Disease Research Network platform by CamRARE and PLRH in late 2024, RAREsummit25 will spotlight three patient voices as they pitch research ideas shaped by their communities — and share exactly what they need to take them forward.

In this RDRN Showcase session, each speaker will present a lived experience-driven research priority, along with a clear call to action: are they looking for collaborators? Funding? Mentors? Study participants? A company with the right tech?

We’re excited to welcome David Hogan, patient advocate and founder of an international men’s mental health support group for rare disease. In his talk, “…And Voices for All” (inspired by Metallica’s …And Justice for All), David asks:

“How do we ensure all voices — especially those often left out — are represented in rare disease research?”

Since his diagnosis in 2017, David has connected men from around the world through honest conversations about mental health, identity, and living with rare conditions. Now, he’s calling for greater inclusion of men, LGBTQIA+ people, and other underrepresented communities in research and advocacy.

He’ll be joined by Sarah Dearman (Children’s Hyperinsulinism Charity) and Scott Hutchings (CHAMP1 Research Foundation), who will also pitch community-led research ideas and outline the support they need to take the next step.

Can you help make these projects a reality?
They’re looking for:
🔹 Expert collaborators
🔹 Mentors
🔹 Funding
🔹 Study participants
🔹 Industry partners

Be in the room where research ideas start — and help shape what happens next!

Workshops: Interactive, Insightful, and Led by You

This year, we’re bringing you a packed programme of interactive workshops where you can have your say, help shape the future, and choose the sessions that matter most to you. With a wide range of themes, there’s something for everyone — whether you’re a patient, researcher, clinician, or industry partner.

The RAREsummit19 Hackathon underway

Topics include:
✔️Exploring Rare Diseases Through the Lens of Human Rights – with the RDI-Lancet Commission
📊 Empowering Patient Groups with Real-World Evidence
🧬Naming Genetic Conditions: Language, Identity, and Ethics
🇬🇧 The Future of the UK Rare Disease Framework
🌐 Rare Diseases in Online Spaces: Community, Safety & Voice

Come ready to connect, collaborate, and contribute to real change.

How you can get involved

Share Your CamRARE Impact Story!

Have you got a great CamRARE event story to tell?
Did you meet someone, hear something, or spark an idea at one of our events that led to a meaningful collaboration, new project, or real-world impact?

We’re looking for stories of connection, inspiration, and change sparked by past CamRARE events — and we’d love to feature them at RAREsummit25.

Got an idea for a discussion or worshop?

Submit an Expression of Interest.

Expression of Interest Form

Networking Dinner

As the sun sets on an inspiring day of bold ideas and promising connections, we invite you to gather for the grand finale.

Raise a glass to 10 years of CamRARE — a decade of driving change, championing collaboration, and giving voice to the rare disease community.

Close up photo of two glasses of fruity looking drinks being clinked together

Enjoy a delicious three-course fine dining experience at Hinxton Hall, on the Wellcome Genome Campus, with a glass of wine or a soft drink on arrival and an opportunity to keep the conversations going!

Let’s toast to the past, the present, and the future we’re building together.

Book for RAREsummit25 & Networking Dinner

Thank You Sponsors!

We couldn’t do this without the support of our fabulous sponsors – a huge thank you to all!  Will YOU join us?

Close up photo of two glasses of fruity looking drinks being clinked together
See RAREsummit25 webpages for more

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