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MHRA Proposal for Accelerating Rare Disease Treatments

MHRA Proposal for Accelerating Rare Disease Treatments

by | Jul 9, 2026 | Drugs and pharmaceuticals, Healthcare, Med tech, Patient experience, Policy, Research, Treatments

Join CamRARE online on 15 July, to delve into the detail of the MHRA’s proposed new framework, designed to help accelerate treatments and therapies for rare conditions.

Morning (10:00) Workshop
Lunchtime (12:00) Workshop
Evening (20:00) Workshop

A New Framework for Accelerating Rare Disease Treatments

The traditional method for developing medicines requires a large number of people to take part in clinical trials.  This process just doesn’t work for most rare conditions, where there are few patients with each condition. As a result, only 5%, of the 10,000 rare conditions that we currently know of, have an approved treatment.

The MHRA (Medicines and Healthcare Products Regulatory Agency) is the government body who approve new treatments and therapies in the UK, and in order to address the challenge that developers have in gathering enough evidence to approve new treatments for rare conditions, they have drafted a new framework designed to help create a more appropriate process for conditions with smaller numbers of people. 

The Big Idea: The Investigational Marketing Authorisation (IMA)

At the heart of their proposal is a new type of approval called the IMA. Currently, running a clinical trial and getting permission to supply a medicine are two separate, often long, steps. The IMA combines them into one process.

Under this new route, a promising treatment can be given to patients and studied at the same time. Instead of waiting years for a final “yes” or “no,” the MHRA will review the evidence continuously. This means people could access life-changing therapies much earlier, while regulators keep a close watch on safety and effectiveness.

Patients as Partners

One of the most important parts of this framework is that patients are treated as partners, not an afterthought. This means:

  • Ongoing Consent: Your agreement to take part is treated as a continuous conversation, not just a single signature. As new information about a treatment’s risks or benefits emerges, you are kept informed.
  • Your Priorities Matter: When judging if a treatment works, the MHRA will look at whether a therapy impacts your quality of life and personal experience, not just lab results.
  • Direct Involvement: Patient organisations will be involved throughout the entire process.

Is “Faster” Safe?

The MHRA emphasises that faster access will not mean lower standards. Because evidence is still being gathered while you use the medicine, safety will be watched the entire time.

Every treatment will have a Clinical Monitoring Plan to track how well it works and catch any issues quickly. If the evidence eventually shows the treatment isn’t safe or effective, the MHRA can restrict or withdraw it immediately.

Treatments entering the IMA process will also be subject to independent ethics reviews, as they would be under a traditional clinical trial, to ensure patients are protected and treated fairly.

Gathering Evidence Differently

Because rare disease patient groups are small, the MHRA will use “flexible” evidence. This includes real-world evidence (data from your everyday medical care) and smart computer models to assess if a medicine works, without needing thousands of trial participants.

What comes after the IMA (Investigational Marketing Authorisation)?

Approval is only the first step; you also need to be able to access the medicine through the NHS. The MHRA is planning to work closely with NICE (National Institute for Health and Care Excellence) and NHS England to ensure that once a medicine is approved, the funding and rollout happen smoothly.

Read MHRA's Draft Framework

How you can help

This framework is currently a draft, and the MHRA wants to hear from you! 

The document is quite a heavy read, so CamRARE are holding a workshop on 15 July to delve in and ask some of the big questions:

  • Does it protect patients well enough?
  • Is consent meaningful and genuinely ongoing?
  • Will access to treatments really be faster?
  • Is the safety monitoring strong enough to reassure you?

The workshop will run at 3 different times throughout the day (morning, lunchtime or evening) where we’ll look through the main priorities and challenges addressed in the framework, ask the big questions and hear from each other about our thoughts.

CamRARE will be submitting a group response to the MHRA consultation based on the feedback we gather at the workshops, but remember you can also submit a response from your organisation, patient group or your personal perspective. The more feedback the better to make the guidance the best it can be!

Image of a laptop with a photo of medicines and text about the workshop repeated in the blog post

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Progress, Potential & Challenges in Gene Therapy: Companies Forum Insights

Progress, Potential & Challenges in Gene Therapy: Companies Forum Insights

by | Apr 24, 2026 | Collaboration, Companies Forum, Drugs and pharmaceuticals, Genomics, Healthcare, Med tech, Patient experience, Raising awareness, Treatments

At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.

Reflections from CamRARE’s most recent Companies Forum discussion bringing together science, systems, and lived experience.

Gene therapy is often described in bold terms: transformational, even curative. But what does that really mean in practice?

Our speakers from across industry, advocacy, and patient communities explored this question from multiple angles. What emerged was a nuanced picture of extraordinary scientific progress and complex real world challenges.

Photo of Companies Forum attendees sitting in rows looking attentively at a presentation

A Transformational Idea meets Real-World Complexity

Gene therapy has been widely described as revolutionary. Since the breakthrough genome editing work of Emmanuelle Charpentier and Jennifer Doudna in 2012, the field has advanced rapidly, arriving at this exciting, yet complicated, frontier that more and more therapies are beginning to reach: moving from research into real-world care.

For rare diseases especially, gene therapy represents a shift from managing symptoms to addressing underlying causes. In some cases these therapies translate into life-changing outcomes that were just not possible before.

However alongside that promise is the complicated reality of uneven access, complex delivery and time critical windows of opportunity.

Two Paths, One Goal

Gene therapies typically follow one of two approaches:

  • In vivo: delivering genetic material directly into the body
  • Ex vivo: modifying a patient’s cells outside the body, then reinfusing them

In vivo approaches can be delivered more quickly, however are not bespoke, while ex vivo therapies are completely personalised, but involve complex manufacturing that can take weeks or months, time that is often critical for successful treatment outcomes.

Using metachromatic leukodystrophy (MLD) as a case study, which has a gene therapy available on the NHS, it was highlighted that only a handful of patients have received it. The reason is not scientific limitation, but timing of diagnosis and therefore access. 

Although patients have been diagnosed since the therapy has become available, only a small proportion were eligible for treatment as the others had progressed beyond the point where gene therapy could help them.

Beyond this time challenge, lie some further issues, including: the logistics of complex manufacturing, the burden of travel to a limited number of treatment centres, long-term follow-up requirements, and high upfront costs. 

Orchard Therapeutics presentation at Companies Forum

From Approval to Access: The Hidden Journey

Another challenge highlighted was the long process of approval to patient access.

After regulatory approval, treatments must go through health technology assessments (such as those by National Institute for Health and Care Excellence), funding decisions, and implementation planning. This process can take years and after all that, access still isn’t guaranteed.

The Patient Perspective: Hope, Hesitation, and Hard Choices

From the outside, gene therapy can sound like an obvious choice. But for patients, the decision is rarely straightforward.

Taking haemophilia as an example, uptake of gene therapy has been more cautious than expected.  Individuals find themselves carefully weighing up:

  • The possibility of reducing or eliminating ongoing treatment
  • Uncertainty about long-term safety and durability
  • The irreversible nature of the therapy
  • The burden of intensive follow-up

Community and historical context matters too. In the haemophilia community a clear link is seen where experiences from the contaminated blood scandal shape perceptions of risk and trust.

In some disease spaces, gene therapy is not the only option. It may sit within an already evolving treatment landscape, where existing therapies significantly improve quality of life and therefore uptake is not a given.

Navigating Early Access

For patients who cannot access clinical trials, early or “expanded” access to investigational therapies can be a lifeline, however it also raises difficult ethical and practical questions:

  • Is there enough evidence to justify the risk?
  • Are healthcare systems ready to deliver the treatment safely?
  • How do we ensure fairness across patient populations?

Following extensive consultation, and in collaboration with clinicians and patient groups, Bionical Emas have developed a decision-making framework. 

A key insight from the development process being that assumptions from clinician and research do not always align with the actual views of the patient community. While patient groups were expected to strongly favour early access, many actually emphasised caution, recognising the risks involved.

The framework therefore brings together multiple considerations: risk–benefit balance, clinical readiness, logistics, regulatory context, and timing. Perhaps most importantly, the process is iterative, and allows for decisions to be revisited as new evidence emerges.

This reflects a shift, moving from reactive, ad hoc decisions towards more structured and transparent approaches, centering the patient community’s view.

Slide about MLD gene therapy access shown at Companies Forum

Newborn Screening

A key issue that cut across the meeting, was that early diagnosis is pivotal.

For conditions like MLD (metachromatic leukodystrophy), two very different realities exist. Those diagnosed early, often accessing testing because of an affected older sibling, may receive treatment and go on to live relatively typical lives, while those diagnosed later face rapid disease progression, intensive care needs, and significantly shortened life expectancy.

This stark contrast extends beyond clinical outcomes. A late diagnosis places enormous emotional, practical, and financial strain on families, on top of the added care burden, and cost to healthcare systems, and (possibly preventable) loss of a loved one.

Newborn screening has the potential to change this, by identifying conditions early enough to enable timely treatment, and transform long-term outcomes.

Yet increased access to newborn screening in the UK has been slow, and MLD and some other conditions where treatments are now available, have not yet been added to newborn screening programmes despite the massive difference it could make to those affected. 

The message in this meeting was clear: in many instances, the barrier is not scientific capability, but system readiness.

A central theme running throughout the discussion was the gap between rapid scientific progress and the slower pace of system change.

Final Reflections: Bridging the Gap

Gene therapy is advancing quickly, but access remains inconsistent. For many families, it is still not a real option.

Bridging this gap will require more than innovation. It will depend on aligning science with policy, infrastructure, and lived experience, ensuring that breakthroughs translate into meaningful, equitable impact.

Join the Conversation: RAREsummit26

These challenges are not something that any one sector can solve alone, and conversations like this are only the beginning.

RAREsummit26 will bring together voices from across the rare disease ecosystem to continue exploring these critical issues, from innovation and access, to policy and patient experience.

📅 7 October 2026
 📍 Wellcome Genome Campus or Online

Whether you work in healthcare, research, industry, advocacy or live with a rare condition, your voice matters.

Learn more, get involved, and be part of the conversation shaping the future of rare disease care.

Rare Summit promotional graphic, an array of triangles
RAREsummit26 Tickets

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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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Data, Digital Tech and the People Behind the Numbers: Insights from Companies Forum

Data, Digital Tech and the People Behind the Numbers: Insights from Companies Forum

by | Jan 19, 2026 | Artificial Intelligence, Collaboration, Companies Forum, Med tech, Patient experience, Raising awareness, Research, Technology

At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.

In December, CamRARE hosted a Companies Forum meeting on the Cambridge Biomedical Campus, to explore a question that is rapidly reshaping rare disease medicine: how can patient data and digital technology unlock better evidence, fairer access to treatment, and a more empathetic experience for families?

A hot topic as the MHRA recently published a position paper (November 2025) setting out a more flexible, data-driven approach to regulation. 

As CamRARE’s Managing Director Jo Balfour reflected in her opening remarks, we are now at a point in time where “data could, in theory, be collected all day, every day, all year round” and the pace of change and potential flexibility in regulatory the approach is quite exciting.

Companies Forum meeting with Jo presenting the agenda slide

But this meeting was clear: The challenge is not primarily technical. It is human. The central questions for the day were simple but profound: 

  • What kinds of data and digital technologies are being used? 
  • How are they being used? 
  • And crucially, what is the experience for the person or family contributing that data?

If it doesn’t work for the people it’s designed for, they’re not going to engage and if we are going to ask patients for data, “do it once and do it well.”

From Metrics to Meaning

That principle came vividly to life in a powerful presentation from Josie Godfrey, Strategic Director of Duchenne UK’s Project HERCULES.

Companies Forum meeting taken from the side of the room, with the speaker and slides visible

Josie described the reality of traditional clinical trials: long-distance travel every few weeks, time away from home, school and work, layered on top of the daily demands of a progressive condition. Anything that reduces this burden, she said, while better reflecting real life, “has got to be good.”

She challenged the adequacy of standard outcome measures, particularly the six-minute walk test. “Every time I saw it, my heart would sink,” she said. A number on a page tells families very little. What matters is whether a child can walk into a classroom, visit a grandparent, or go to the shop.

In those with Duchenne, Josie highlighted a critical transition stage that is often invisible in the literature: the point at which a child can no longer weight-bear. “The key thing is not that you stop walking,” she explained. “It’s that you stop weight bearing.” That shift has a much more profound impact on independence, care needs and costs, than becoming a wheelchair user, yet it is rarely captured.

Digital approaches offer the possibility of seeing what traditional measures miss: subtle changes in posture, movement and compensation; the things people can still do, not only the things they can no longer do. They can reflect the reality of life, rather than an abstract score from a clinical environment.

But Josie also shared a hard lesson. Early pilot work that required parents to use smartphone video to capture movement over time allowed for documenting subtle changes, however the emotional impact of being faced with such a visual comparison was too painful for families to see, and the study was halted.

Even the most well-intentioned digital innovation can cause harm. Parents and patients are often asked to “go to a very dark place” to generate evidence. Technology must reduce burden, not add to it.

Digital measures can enable smaller, faster, more inclusive trials, Josie concluded – but only if they are designed to protect the wellbeing of the families participating.

When Families Become Innovators

That human drive to “do something” was embodied in the story of James Oakley of Keep Me Breathing.

James’ son has a condition that causes him to stop breathing, requiring constant vigilance. Faced with this reality, James decided to create a solution.

Working with innovative product designer, Duncan from 7TH Design, they developed a device to monitor his son’s breathing.

What began as a response to one family’s need now has applications far beyond that single condition, including respiratory care and even sports performance. It is a powerful reminder that some of the most transformative ideas in healthcare begin not in laboratories, but in family homes in the middle of the night.

Watch James and Duncan’s video below:

Can Wearables Change the System?

Ashley Enstone and Alisa Chowdhary from Adelphi Values PROVE explored what it will take for digital and wearable technologies to be accepted, not only in trials, but by health technology assessment (HTA) bodies such as NICE.

Wearables are already part of daily life. In healthcare, continuous glucose monitoring has transformed diabetes care, reducing mental burden for both patients and carers. In Duchenne Muscular Dystrophy, Stride Velocity, a wearable capturing how people move in real life rather than in a clinic corridor, has progressed from regulatory qualification to primary endpoint status in just a few years.

Yet wider adoption remains slow. Building confidence in new tech takes time, evidence and education. 

Some examples of challenges that were identified in their study included: the variation in tech literacy (owning a device does not mean being able to use it confidently); many commercial devices are less accurate for people of colour and those with higher body mass, risking bias and mistrust; and cost remains a major obstacle. Those who could benefit most often have the least ability to pay.

A group member described the reality of continuous glucose monitoring: £50 every two weeks, device failures, and the emotional blow of reverting to finger-prick testing. Even “well-established wearables… are not foolproof.”

This creates a paradox. To secure funding and reimbursement, data is needed across all populations. But to collect that data, funding is required. 

In rare disease especially, the group agreed that imperfect data is often better than no data at all, as long as the limitations are transparent.

Above all, patients need confidence that their effort will matter. If data “isn’t going to get traction with regulators,” families are “wasting very valuable energy.”

Companies Forum meeting speaker Richard

Behaviour as a New Vital Sign

Professor Richard Festenstein of Imperial College London offered a glimpse of what the future could look like.

Through his work on Friedreich’s Ataxia, Richard’s team developed compounds that reverse ‘epigenetic silencing’ – a symptom of this condition, where genes are too tightly packed to be accessible, so are essentially ‘switched off’, and in the case of Friedreich’s Ataxia, it means the body cannot make enough frataxin, a protein essential for nerve and muscle function. After treatment, patients reported changes that transformed daily life:

“I can talk on the phone.”
“I can sit up unaided.”
“I can grab a cup of water.”

However traditional clinical scales failed to capture these effects. “What we do at the moment is very crude,” Richard said.

So, working with Professor Aldo Faisal, Richard has been trialing a more precise, nuanced way to capture real-world patient experiences through repurposing motion-capture technology used in the movies (BBC article). Patients wear sensor suits in simulated domestic environments, and simpler devices at home, to 3-D record every day activities in a more relaxed environment.  Machine learning analyses thousands of features of the movements captured.

The results are striking.

  • Movement data predicts clinical scales better than the scales predict themselves. 
  • Trials can be smaller and faster. 
  • Disease progression can be detected earlier. 
  • Non-ambulatory patients – often excluded from traditional studies – can be included.

In one example, frataxin levels in blood could be predicted from how a person with Friedreich’s Ataxia moves, where clinical scales showed no relationship. The study shows the potential for each patient to be mapped within a multidimensional “disease space,” with an “individualised fingerprint.”

Richard’s company, Ethomix, aims to integrate behavioural data with genomics, imaging and electronic health records. Behaviour, he suggested, is a “missing vital sign.”

A Shared Responsibility

Across the day, one message rang clear: no single stakeholder “owns” this space. Progress depends on partnership between patients, families, researchers, regulators, technology companies and industry. The challenge is not the absence of data, but its fragmentation. As one participant observed, “There is data – it’s just not in the same place.”

Digital innovation in rare disease is not just about wearables, algorithms or endpoints. It is about dignity, trust and the promise that when families give their time, energy and stories, those contributions will be honoured.

This is not simply a data revolution. It is an opportunity to build a system that sees people, not just numbers – and to ensure that technology serves the lives it seeks to measure.

An array of Companies Forum member logos as of July 2025

Join the Conversation

Be heard, influence the future. Help build what comes next by joining the CamRARE Companies Forum. 

Have a look at our webpage for more information and to download the latest Membership Prospectus.

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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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Reducing the Diagnostic Odyssey: Insights from Companies Forum

Reducing the Diagnostic Odyssey: Insights from Companies Forum

by | Aug 27, 2025 | Artificial Intelligence, Collaboration, Companies Forum, Drugs and pharmaceuticals, Education, Events, Genomics, Healthcare, Patient experience, Raising awareness, Research, Technology, Treatments

At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.

The Diagnostic Odyssey

For people living with rare conditions, the search for a diagnosis is often described as an “odyssey” — a long, exhausting journey through healthcare, marked by misdiagnoses, delays, and uncertainty.

At our Companies Forum meeting on Reducing the Diagnostic Odyssey in Rare Disease (14 July 2025 at Friends House in London), experts from research, healthcare, industry, and patient organisations came together to explore how we can shorten this journey and create a more equitable system.…

Why diagnosis matters

A timely diagnosis is critical: it connects patients and families to treatments, support networks, and clinical research. Global milestones — from the UN Resolution on Rare Disease (2021) to the WHO Resolution (2025) — underline that diagnosis is not just a medical matter but one of equity and justice. Yet, systemic barriers still stand in the way.

Screening for rare diseases

Anna Need (Genomics England) presented the Generation Study,  a national research study sequencing genomes of 100,000 newborns to assess the feasibility and impact of whole genome sequencing (WGS) into NHS newborn screening. So far, more than 14,800 babies have been enrolled, with dozens of suspected cases identified.

Key principles of the study include informed consent, workforce training, equitable access, and ensuring results are acted upon with proper care pathways, with sensitivity at all stages.

A powerpoint slide entitled Sickle Cell presented to a round table meeting

Meanwhile, Iyamide Thomas (Sickle Cell Society) reflected on lessons from the UK’s national sickle cell screening programme, introduced in 2004. The UK was the first country to link their antenatal and newborn screening programmes. It has saved lives by enabling early treatment, but challenges remain.

“You screen to care. Screening only works if results are communicated clearly, promptly, and with support.” – Iyamide Thomas

Beyond the genome

Even when whole genome sequencing is available, only about a third of rare disease patients currently receive a diagnosis. Gemma Chandratillake (NHS East Genomics) explained how other ‘omics’ — including transcriptomics, proteomics, and metabolomics — alongside AI, can help to provide the missing pieces.

From facial recognition tools that support diagnosis to algorithms that predict protein structures, technology is moving quickly. Some approaches are already in use within the NHS, while others are still research-based. The challenge is choosing the right test at the right time.

It’s not just about sequencing more. It’s about bringing together the right tools, at the right stage, for the right patient

Gemma Chandratillake

NHS East Genomics

Harnessing data and AI

Health data holds untapped potential to flag undiagnosed rare disease cases. Elizabeth Varones (Mendelian) shared how their MendelScan platform analyses electronic health records using 50+ disease-specific algorithms. This helps identify at-risk patients earlier and supports equitable access to testing and trials.

Saran Muthiah standing in front of his slide presentation

Similarly, Saran Muthiah (Enrich My Care) described how their platform, initially designed for care coordination, is evolving into a diagnostic red-flagging tool. By enabling families to upload structured and unstructured health data — from clinic notes to video clips — the app can triage cases faster, reducing waiting times for conditions like epilepsy.

Both speakers stressed the need for NHS adoption and interoperability to realise the full impact of these innovations.

Embedding diagnosis in policy

Policy levers are vital to embed rare disease diagnosis into the health system. Liz Hookham (LifeArc) presented recommendations from a UK task force, calling for stronger registries, adoption of ICD-11 coding, and a national rare disease clinical director to champion change.

Meanwhile, Sue Farrington (RAIRDA & SRUK) outlined progress toward the first ever NICE Quality Standard for Rare Diseases. After consultation with over 500 stakeholders, the proposed standard includes timely referral, recognition of undiagnosed patients, and integration of genomics.  The main benefit of this initiative over current best practice guidelines is that quality standards are audited which will help drive their use.

A quality standard gives families something powerful: accountability. It creates benchmarks we can measure against

Sue Farrington

RAIRDA & SRUK

The scoping exercise is complete with around 20 proposed quality standards that needs to be refined 6-8 for the final.

There was much excitement in the room to hear of this happening!

Key takeaways

Throughout the meeting, several common themes emerged:

  • Equity must be central: underserved groups face the longest diagnostic delays.

  • Genomics is not enough: combining omics, AI, and patient-led data is key.

  • Data matters: registries and interoperable systems underpin progress.

  • Patient voices drive change: advocacy groups play a critical role but need sustainable support.
Photo of Forum members networking over coffee

Looking ahead

The forum showed that ending the diagnostic odyssey is not just about technology, but about trust, collaboration, and political will. With the right tools and policies, we can shorten the journey to diagnosis and ensure no family has to navigate it alone.

The ultimate goal is simple: faster answers, fairer care, and better futures for people with rare diseases

An array of Companies Forum member logos as of July 2025

Membership

Join the conversation that’s changing the rare disease landscape.

Be heard, influence the future. Help build what comes next by joining the CamRARE Companies Forum. 

Have a look at our webpage for more information and to download the latest Membership Prospectus.

More about Companies Forum

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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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Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations

Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations

by | Nov 6, 2024 | Collaboration, Patient experience, RAREfest

The ART-TRAnslations Project, supported by Life Arc and the Cambridge Rare Disease Network, is more than just an art exhibition; it’s a radical merging of art and science designed to render rare diseases visible in new and imaginative ways. This visionary initiative pairs 20 scientists with 20 artists, resulting in a collection of awe-inspiring artworks that convey the science, struggles, and resilience of the rare disease community.

In one such collaboration, Dr Gavin McStay and ceramic artist Charlotte Morrison reinterpret mitochondria through ceramics, while Dr Katie Coveney and illustrator Lele Saa illuminate the realities of Noonan syndrome with an interactive activity book. These unique artistic expressions delve into the world of science through powerful, sensory storytelling, inviting audiences to connect with rare diseases in a profound and personal way. Here’s a glimpse into these remarkable collaborative journeys.

Cambridge Rare Disease Network - Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations 4

Exploring the Powerhouses of Life: Gavin McStay and Charlotte Morrison’s Mitochondrial Art

For Dr Gavin McStay, mitochondria are more than just cellular powerhouses—they are a fascinating microcosm of energy, life, and resilience. With a decade of experience in public engagement, Gavin’s passion lies in making science accessible through innovative, tangible means. Collaborating with ceramicist Charlotte Morrison, Gavin found a way to bring his research on mitochondria to life, inviting audiences to interact with intricate, hand-crafted ceramic pieces that embody the essence of mitochondrial structures.

Together, Gavin and Charlotte explored mitochondria’s role in life—from conception through to the final moments. They focused especially on mitochondrial diseases and the impact these elusive disorders have on patients through a humanistic perspective. This dialogue sparked an exploration that saw Charlotte translating the mitochondrion’s complexity and multifaceted role into ceramic forms, each piece capturing aspects of the cell’s strength, vulnerability, and essentiality to life.

“I want people to understand scientists and appreciate who we are and what we do,” Gavin expressed. There are profound similarities between scientific research and art: both demand observation, iteration, and creativity. I aim to make the world a better place by creating projects that engage and inspire, especially for young people who may one day become scientists.” Gavin’s enthusiasm for public engagement fuels his vision to make science not just educational but immersive and inspiring.

“I want people to understand scientists and appreciate who we are and what we do,” Gavin expressed. There are profound similarities between scientific research and art: both demand observation, iteration, and creativity. I aim to make the world a better place by creating projects that engage and inspire, especially for young people who may one day become scientists.”

Gavin Mcstay

Researcher

Charlotte’s ceramic works evoke the mitochondria’s delicate folds and ridges, symbolising both the resilience and fragility of these structures. Her approach allows visitors to not only observe the ceramic forms but also to hold and feel them, bridging a sensory connection to these vital cellular elements. Each piece bears quotes, associations, and fragmented text, woven together like a mosaic to convey the myriad roles mitochondria play in both health and disease. Charlotte dissected printed text and reconstructed it in strands, forming connections and organic shapes.

Their work is displayed on a pedestal, with each piece arranged to create a flowing path symbolising the ceaseless flux of metabolic activity. This sensory experience invites viewers to hold the pieces in their hands, feeling both the vitality and fragility of mitochondria, rendering science into something tangible and profoundly intimate. This collaboration has left Gavin feeling energised to take this concept further. At Liverpool John Moores University, he is already working with student artists in science and art master’s programmes to embark on new creative scientific projects.

Cambridge Rare Disease Network - Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations 5

Bridging Research and Compassion: Lele Saa’s Interactive Book on Noonan Syndrome

Cambridge Rare Disease Network - Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations 6

Lele Saa, an illustrator with a flair for character design, joined forces with Dr Katie Coveney to create a warm and engaging activity book tailored for children and families impacted by Noonan syndrome. Noonan Syndrome affects approximately 1 in 2,500 people worldwide yet resources that provide accessible and empathetic, non-clinical information can be hard to find. Inspired by Dr Coveney’s research on the lived experiences of those with Noonan syndrome, Lele brought to life a visually captivating, activity-rich book.

This interactive book includes word searches about the condition’s symptoms, an “I spy” game, a maze, and even a “chatterbox” featuring positive affirmations for caregivers. Lele’s illustrations invite children to learn and engage with the realities of Noonan syndrome in a playful, comforting way.

Cambridge Rare Disease Network - Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations 7
Cambridge Rare Disease Network - Science, Meet Imagination: Rare Disease Research Reimagined Through Art Translations 8

“I included care tips to caregivers like, ‘Do a silly dance’. It’s a gentle reminder for caregivers to prioritise self-care, shared in a way that a child could pass along to their parents. Katie and I worked closely to ensure these mindful activities were sensitive to the daily lives of caregivers.”

Lele Saa

Artist

Lele also designed a board game for families and the public to play together, highlighting the ups and downs of living with a rare disease. Initially, a “hospital appointment” card instructed players to lose 2 turns, but through thoughtful dialogue with Dr Coveney, the pair rethought this, reframing it as “you miss school for a hospital appointment, lose 2 turns” This subtle shift represents a powerful reframe, blending realism with optimism.

Reflecting on the project, Lele shared, “I learned so much, especially about the similarities people experience across different rare conditions. The most important takeaway is that, with the right support, people with rare diseases can truly thrive.” Her Noonan syndrome book will be displayed at Rarefest24 alongside her board game, providing visitors with a memorable, hands-on experience in learning about rare diseases. Lele’s upcoming children’s picture book and commissions showcase her commitment to intricate, impactful storytelling.

Celebrating Connections: The Artistic Process in Bridging Science and the Public

At the core of the Art Translations Project is dialogue—between scientists and artists, and between the artworks and the public. For instance, Gavin and Charlotte’s mitochondrial ceramics were showcased at the Lily Foundation Adult Support Weekend, where individuals affected by mitochondrial disorders had the opportunity to physically engage with the pieces. The response was both heartwarming and profound, as people expressed feeling an intimate connection to their health journeys and the strength required to manage their conditions. Likewise, Lele’s Noonan syndrome activity book is already making a difference, filling a knowledge gap and fostering a sense of community, fun, and understanding among families.

Rarefest24: An Unmissable Exhibition of Art and Science

This November, the full collection of 20 art-science collaborations from the Art Translations Project will be displayed at Rarefest24. Visitors will have the chance to witness this breathtaking array of artwork firsthand, each piece a testament to the transformative power of art in illuminating the complexities of rare diseases. Gavin and Charlotte’s mitochondrial ceramics will invite attendees to experience the sensory world of these cellular powerhouses, while Lele and Dr Coveney’s interactive Noonan syndrome book and board game will provide families with an innovative, playful way to learn about and connect with rare disease experiences.

Rarefest24 promises an unforgettable journey into the creative world of rare disease science, celebrating the resilience of the rare disease community and the imaginative power of art. Don’t miss your chance to experience this extraordinary fusion of art and science at Rarefest24, where the boundaries between imagination and discovery dissolve, leaving behind a legacy of inspiration.

Book your ticket for RAREfest24

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The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity

The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity

by | Sep 10, 2024 | Collaboration, Patient experience, Raising awareness, RAREfest

Few can rival Phil Jerky’s raw authenticity and unfiltered brilliance. Jerky makes audiences laugh with his unique blend of sharp social commentary, self-deprecating humour, and an unshakable ability to find light in the darkest situations. But behind the curtain of his punchlines lies a story not just of a comedian but of a man who has turned his struggles into a powerful narrative of resilience, battling stereotypes, and raising awareness about living with a rare disease.

A Rare Diagnosis: Young-onset Parkinson’s Disease (YOPD)

At 36, Phil was a new father to a 15-month-old son. His life took an unexpected turn when he was diagnosed with a rare neurological disorder, Young-Onset Parkinson’s Disease. The diagnosis was both physically and emotionally challenging.

Phil first noticed pain and numbness in his arms. A physiotherapist assisted him initially and recommended he contact his GP to be referred for further tests. These included an MRI, which he describes as “like being inside a fax machine,” an EMG test (needle in arm to check nerves and muscles), and more.

In 2017, he met with a specialist who delivered life-altering news. Overwhelmed, he contacted Parkinson’s UK and Spotlight YOPD (a charity supporting those with Young-Onset Parkinson’s) seeking guidance. The advisors offered reassurance, explaining that the disease progresses slowly and that thoughts of the end shouldn’t consume him. While this eased his mind to some degree, the reality of living with YOPD was far more complex. Unlike those diagnosed later in life, he faces the challenge of raising a child, managing his career, and maintaining a social life, all while navigating a serious health condition.

Cambridge Rare Disease Network - The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity 9
In 2017, he met with a specialist who delivered life-altering news. Overwhelmed, he contacted Parkinson’s UK and Spotlight YOPD (a charity supporting those with Young-Onset Parkinson’s) seeking guidance. The advisors offered reassurance, explaining that the disease progresses slowly and that thoughts of the end shouldn’t consume him. While this eased his mind to some degree, the reality of living with YOPD was far more complex. Unlike those diagnosed later in life, he faces the challenge of raising a child, managing his career, and maintaining a social life, all while navigating a serious health condition.

Phil Jerky: A Journey into Comedy

Phil’s diagnosis could have easily silenced his laughter, but instead, it propelled him into comedy; it became another chapter in his life’s story that he chose to share with the world. Upon learning of his diagnosis, Phil needed an outlet. However, his mobility restrictions left him searching for an artistic expression which didn’t involve his hands. A friend recommended a stand-up course, which opened the door to new possibilities.

 “I’ve always tried to find the humour in things. It’s a coping mechanism. The times I can’t laugh about it are when it consumes me.”
Phil Jerky

Comedian

At first, he was unsure about being open about his disability on stage and questioned whether he wanted his health to be the focus of his jokes. However, after an inspiring chat with fellow comedian Paul Sinha, who also lives with Parkinson’s and is best known for his role as ‘The Sinnerman’ on the popular gameshow The Chase, Phil decided he had a unique opportunity to raise awareness and tell his story, wrapped in wit. Therein conceived was Phil Jerky.

Comedy as a Beacon of Awareness

Phil aspires to be a professional stand-up comedian. He uses his jokes to connect and raise awareness and makes statements about the power of humour as a coping mechanism.

At RAREfest22, Phil joined the stage on Friday evening with a stellar performance. He opened his set with:

“I have involuntary movements because I have a condition called Parkinson’s Disease. I don’t like the ‘disease’ part of the condition’s name because it implies you can catch it from me. But I can assure you right now that Parkinson’s has nothing to do with catching anything.”

The crowd warmly welcomed Phil’s humour and facetiousness, his jokes expertly crafted and delivered. Through his performances, Phil has challenged the narrative about living with a chronic degenerative condition. He has shed light on the often-overlooked experiences of people with disabilities, using his platform to dismantle stereotypes and bring attention to the nuances of daily life.

Cambridge Rare Disease Network - The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity 10

Battling Toxic Positivity and the Double-edged Sword of Sympathy

Phil speaks particularly of the well-meaning yet ultimately unhelpful things people say when they learn of his condition. Some see him as the “brave guy with the disease.” While the admiration is appreciated, it speaks to the narrative of seeing those with health conditions and disabilities as ‘inspirational’ for existing. Others will remark, “There’s always a silver lining”, harbouring toxic positivity, which suggests that people should maintain a positive mindset no matter how dire or difficult a situation is.

On the other hand, upon learning of his Parkinsons, some people will exclaim, “Oh yes, I know of the condition… my uncle died of Parkinson’s”. Though these comments are meant without malice or are a means to connect and empathise, they are upsetting. As Phil puts it, pity can be just as isolating as indifference.

Phil talks about the burden of being seen through the lens of his illness:

“I am not brave nor an inspiration. I’m a person living my life. I’m not just my disease.”

Phil’s comedy reminds us that individuals with chronic illnesses don’t want to be defined by their diagnoses – they want to be seen for who they are, not what they have. His humour exposes the fine line between empathy and pity and our commonality as people living with good days and struggles despite our health status.

The Unstoppable Force of Laughter

Phil Jerky’s journey is a testament to the power of comedy in the face of adversity. His ability to turn his struggles into something that entertains, educates, and inspires is remarkable. Comedy, for Phil, isn’t just entertainment; it’s an outlet, a way to maintain his identity, take a stand against toxic positivity, and raise awareness through a comedic brilliance his audience can connect with.

The Cambridge Rare Disease Network are delighted to welcome Phil Jerky back to RAREfest in our 2024 Friday night programme ‘Strictly Rare’ on the 22nd of November 2024. Be prepared for the honest, the witty, and the unafraid to tackle the uncomfortable. Through his comedy, Phil has shown that laughter is not just about joy; it’s about resilience, connection, and the unyielding human spirit. In a world that can often be overwhelming, Phil Jerky’s story is a reminder that no matter what life throws at us, there’s always room for a joke – and sometimes, that joke is the thing that keeps us going.

Book your ticket for RAREfest24

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The need for a rare patient passport

The need for a rare patient passport

by | Jul 3, 2024 | Community, Patient experience, Rare Disease Day

Launching CamRARE’s ‘The Need for a RARE Patient Passport’ Report for Rare Disease Day

Today, we’ve joined our community in celebrating Rare Disease Day and sharing the progress that is being made to improve outcomes for people affected. Today seemed the perfect day therefore to launch our new report ‘The Need for a Rare Patient Passport’. Now the dust’s settled on a busy day let’s take a look at a simple way to make a difference for rare patients everywhere.

For those living with a rare or complex condition, it can be challenging to convey healthcare needs to relevant professionals, especially when an emergency arises.  To address this, some patient groups have devised “patient passports” and there are some excellent examples in use.

However, not every disease comes with a passport. In 2022 Rare-X reported there were as many as 10,867 rare diseases, affecting roughly 3.5 million people in the UK alone and @400 million worldwide, and designing a passport for each would be an impossible task. So our charity, Cambridge Rare Disease Network (CamRARE) has designed and trialed a patient passport that, in two phases of testing, was reported to be very helpful to both patients and healthcare professionals.

We are delighted to share our Phase Two Pilot study report which delves into the experiences of individuals with rare conditions in the UK, focusing on the challenges they face in communicating their healthcare needs and evaluating the potential benefits of a Patient Passport in enhancing communication between these individuals, healthcare professionals, and others in non-clinical settings.

The study involved over 200 patients and caregivers who participated in focus groups, completed pre- and post-pilot surveys, and tested a passport for up to 12 months. Additionally, healthcare professionals such as doctors, geneticists, nurses, and other allied healthcare professionals were engaged in sharing their experiences and insights. For the highlights of this report visit the Rare Patient Passport webpage.

Lucy McKay

The passport can be printed flat, single or double-sided for storage in a folder or to present to an HCP, or it can be kept folded in a protective wallet with a lanyard.

The findings from the report have enabled CamRARE to develop an updated version of the trial passport. This version is user-friendly, customisable, can be regularly updated, is downloadable, printable flat for storage in a folder, and foldable for easy carrying on a lanyard (see images and passport template attached). Whilst we are keen advocates of digital solutions, this current communication format was preferred by 74% of patients and offers an effective solution to a common challenge faced by many rare disease patients today.  The final version will be a fillable PDF format with guidance notes which can be used flat or folded.

We hope that this report can serve as a valuable resource for shaping policies and action plans within the Rare Disease Framework to improve co-ordination of care and education of healthcare professionals in rare diseases and that you will join us in encouraging recognition, adoption, and acceptance of the Rare Patient Passport as a means to alleviate the unnecessary challenges of communicating rare conditions for those affected, whatever their age and wherever they are. A tool which they can carry with them through childhood into adulthood.

 

Image depicts the small hand of a newborn held by the hand of an adult

Get involved

We would love your support and will be in touch regarding the launch of our new passport later in March.

  • Are you or a family member living with a rare condition? Register your interest in applying for the newly created passport (no surveys to fill out now this trial is closed).
  • Do you represent a patient community? Register your interest in adopting/adapting the passport for them.
  • Are you an HCP or involved in a healthcare, social care, or education setting? Register your interest in adopting/adapting or trialing the passport in your setting.
  • Are you a policymaker? Get in touch to discuss how we can collaborate to support people with rare conditions better.
  • Are you based outside of the UK or require passports in a different language? Let’s discusshow you could adapt the Rare Patient Passport.
  • Are you a company that’d like to support the development of this initiative? Let’s discuss how you could support our work.
  • Would your organisation or setting be interested in reviewing and providing an endorsement of this passport?  Get in touch

We hope you’ve had a successful Rare Disease Day 2024!

Many thanks for pro bono editorial, design and research support from

COSTELLO MEDICAL CONSULTING LIMITED Medidata Solutions and grant funding for this project from Alexion Pharmaceuticals, Inc.

 

Get your rare patient passport today

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Embracing Resilience – The Journey of an Asian Male Living with Neurofibromatosis Type 1 and Facial Deformities

Embracing Resilience – The Journey of an Asian Male Living with Neurofibromatosis Type 1 and Facial Deformities

by | Aug 10, 2023 | Patient experience, Raising awareness, RAREsummit

Life’s challenges come in many forms, and for some, the journey is exceptionally arduous. For Amit, an Asian male born with Neurofibromatosis Type 1 (NF1) and facial deformities, navigating childhood, adolescence, and adulthood was and is an emotional rollercoaster. This blog delves into the struggles and triumphs of a young man who has faced adversity with courage, resilience, and the determination to find acceptance and beauty in uniqueness.

 

As Amit states: “If there was better representation in the media, on social media, films (think of all the villains with facial deformities) and TV, I think that acceptance would be far greater than it is today. It’s going to take time for the people who have visible conditions and rare diseases to learn to accept who they are, embrace who they are, and celebrate who they are before we can expect others to accept us and others to give us time and appreciation. We need to do a bit of self-love, a bit of self-acceptance.”

“I hope we do get the acceptance and it’s not going to come overnight. It’s going to take time from both parties. It needs greater acceptance from society.”

Amit Ghose

Motivational speaker, coach

Living with Neurofibromatosis Type 1

Neurofibromatosis Type 1 is a genetic disorder that causes tumors to form on nerve tissue. While the severity of NF1 can vary significantly from person to person, facial deformities are not uncommon. As a child, Amit’s family began to notice these physical differences, which set him apart from his peers. He was just two years old when he was diagnosed and his father brought him to the UK in the hope of finding better treatment. Growing up, he faced challenges that most of us couldn’t fathom.

 

Childhood struggles

The early years were marked by innocent questions from classmates, curious stares, and insensitive remarks that left deep emotional scars. Finding acceptance in a world that often values appearance over substance was an uphill battle.

 

The bullying and social isolation

Throughout school, Amit endured bullying and ridicule, making him feel like an outsider. Social acceptance was a significant worry, and Amit dreaded going to school each day. The pain of being ostracised for something beyond his control was deeply distressing. He sought refuge in solitude, retreating from social interactions to avoid further hurt. The desire to fit in became a distant dream, and the search for authentic connections seemed almost impossible.

Going to school was challenging. The only friend I had was the support teacher because a lot of people didn’t want to be friends with me. She’s actually now a family friend. So whenever I meet her, we, we have these conversations, and you know, she told me the other day that there were many occasions we would just sit at lunch and I’d try and go out and, you know, I just couldn’t, I couldn’t integrate with other children. A lot of people were scared, a lot of people were worried they’d catch what I’d got. A lot of people didn’t want to be friends with me because they thought the cooler kids in the classroom wouldn’t want to be their friends if they were friends with me.

As the NF1 progressed, so did the physical differences, making everyday interactions even more challenging. At the age of 11, in year seven, I was told that my eye needed to be removed. You know, it’s a pretty daunting matter. And to digest that psychologically was a huge thing for me. Especially because I knew after I’d had the eye removed, I wouldn’t have the prosthesis for at least a year. So I’d be wearing an eye patch and going into school, wearing an eye patch, and that was daunting. Challenging, so that was a very difficult period when they removed the eye.

“I made a TikTok video, sharing my story, talking about my condition, talking about helping and inspiring people. And now 45 days after launch I have some 52,000 people following me. I never thought that would happen. But there’s a lot of people following and there’s a lot of schools now coming out to me and saying, can you come to our school? So it’s all about the education of school children, parents, friends, and society to reduce stigma and isolation. I think together we can make differences, positive differences, positive impacts, and my mission is to normalise visible differences.”

Amit Ghose

Motivational speaker, coach

Image depicts an asian gentleman with a beard and dark hair, and facial deformities particularly to the left side of his face. He is wearing a white jumper and blue blazer jacket.

Family support and coping mechanisms

Amidst the hardships, Amit found solace and strength in his family’s unwavering support and love. Their unconditional acceptance played a pivotal role in bolstering his resilience. Additionally, he discovered coping mechanisms like sports that allowed him to express himself freely and embrace his uniqueness. 

“I remember my dad was one of the biggest contributed factors of my confidence. The way my dad and my family brought me up, my dad never made me realise that I even have a condition. The way he dealt with me was completely as if I was just one of the other siblings. And that really helped the mentality of normalizing things for me.”

 

Overcoming obstacles

As he entered adolescence, Amit chose to confront the challenges head-on. He sought other ways to address the emotional toll of living with facial deformities, which proved instrumental in boosting his self-esteem. Slowly, he began to build a sense of self-worth, recognising that his value extended far beyond physical appearance. “The turning point, I think, was when I started accepting who I was, and I started, you know, realising unconsciously that, you know, I can’t really change who I am, and I can’t change the way I look, and the condition I have, but what I can do is try and be who I am.

So, I started playing cricket. I joined the cricket club, and suddenly, I went from the guy who has this rare disease guy who plays cricket. It’s that shift in people’s mentality and people’s perceptions about people who have diseases that you are not the disease. I’m not only recognised as Amit, the guy with the neurofibromosis, or Amit, the guy with NF, that one. I’d rather be recognised as Amit, the guy who plays cricket, or now Amit, the guy who’s going on trying to raise awareness and trying to help support, inspire people around the world about this subject.”

Amit’s condition is hereditary, and he has a fifty percent chance of passing it on. This brought further challenges from the Asian community. “So when I was at the age of getting married, a lot of people in in the community were saying, who would give their daughter to him? Somebody even came up to me and said, oh, put yourself in the shoes of a father. Do you want your daughter to marry someone who’s got a condition like yours? It’s unbelievable that someone can say that to you straight to your face. Then I met my wife, and when we moved into the dating phase, her family was completely against us getting married. One of the biggest reasons for that was how will the children turn out?

So now Amit and his wife are on a new journey, working with the genetic consultants to see if they can mitigate the genetic risks of passing down the faulty genes and how or if they can be removed in pregnancy. This in itself has opened up questions for Amit and his wife. Amit, in particular.

“Ultimately, it came down to do I want my child to go through what I’ve been through? And the answer is no. But as with all things in my life, it puts a huge mental strain on me, but we are now in this phase where we’re considering our options, we’re talking to specialists, and seeing what could be done.”

 

Image shows a young asian male with facial deformities in blue jeans and a graphic tee standing in his childhood home.

Advocacy and Empowerment

As an adult, Amit transformed his struggles into a platform for advocacy and empowerment. He has now become an active voice within the NF1 community, educating others about the condition and promoting awareness about facial differences. By sharing his story, he aims to inspire those facing similar challenges and eradicate misconceptions surrounding facial deformities. Reflecting back on his school days, Amit believes that:

“You know, I felt like I had two choices in life. I could either sit back and feel sorry for myself or I could get up and be who I am. So the journey from when I had the eye removed, the eye patch, the name calling, the bullying, you know, going into school, being called Captain Hook, Popeye, the sailor man. All these names that still come back to and haunt me sometimes was really depressing and really, really upsetting. I tried to use my personality. I try to say to myself, accept who you are. Embrace who you are, celebrate who you are, and go out and be yourself.”

Rather than succumbing to the societal pressure to conform, Amit has chosen to redefine facial deformity on his own terms. He challenges conventional beauty standards, emphasising that true beauty lies in accepting and embracing individuality and diversity. Through his advocacy work, he hopes to foster a more inclusive society that celebrates differences rather than stigmatising them.

Embracing individuality

The journey of an Asian male growing up and living with Neurofibromatosis Type 1 and facial deformities is a testament to the indomitable human spirit. While the path was fraught with challenges, Amit’s resilience and determination allows him to rise above adversity. By embracing his uniqueness and advocating for awareness, he has become an inspiration to many, proving that true beauty emanates from within. Through his story, we learn that by accepting and celebrating our differences, we can foster a world that embraces and uplifts every individual, regardless of their appearance.

 Come and meet Amit at RAREsummitt23!

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