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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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Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

by | Oct 11, 2023 | Education, RAREsummit, Treatments

What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about.

 

Dr Lucy McKay

I sat down with Dr Lucy McKay, CEO of Medics4RareDiseases, to talk about her journey into the rare disease community and about Newborn Screening. Having spent a significant portion of her years as a junior doctor in a Paediatric setting, Lucy has hands-on experience with the Newborn Screening process in the UK. Lucy also has a dual perspective on Newborn Screening, having grown up alongside a patient group that she then went on to volunteer and work for in a number of roles. Lucy’s brother died before she was born because of a rare genetic metabolic condition which now has a treatment but is still not screened for in newborns.

What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about, especially in comparison to topics such as whole genome sequencing or approval of medications for rare diseases.

The following write-up of our conversation acts as a primer for those attending the panel discussion, generating reflections, emotions, and questions to bring to the table.

Lucy McKay

“It is time for Newborn Screening to be examined in a more open forum, in a transparent dialogue with the larger rare disease community and beyond. Are we all talking about the same thing, or is there an assumed level of knowledge, and we need to bring more people into the discussions?”

Newborn Screening in the UK

When people talk about “newborn screening”, they are more often than not referring to the Blood Spot Test (or Guthrie Test) which is offered to all neonates on the fifth day of life. The Blood Spot Test is just one of a number of screening tests that are performed at birth as part of the larger NHS Newborn Screening Programme.

Lucy explained that, simply put, screening is a way to identify when an apparently asymptomatic individual may be at risk of a specific condition. Despite its name, it is not a test as such because it does not serve to diagnose a disease. Rather,it  indicates if a condition may be present before a person expresses any symptoms. It is helpful to think of it as the beginning step on a pathway to diagnosis if the result indicates that a specific condition may be present. In neonates, the Blood Spot Test is one of three screening tests included in the Newborn Screening Programme, alongside a hearing test, and a physical examination.

Early on, Lucy raised the concern that a lot of attention is paid to only this element of the Newborn Screening Programme. Having performed countless “baby checks” in a post-natal department she believes that the physical examination could be seen as one of the earliest opportunities to pick up early signs of an underlying condition. Especially as the physical examination is then repeated in infancy at 6-8 weeks of age so follow up is already built into the NHS system.

Parents and legal guardians provide consent for newborn screening and uptake of the Programme is approximately 96% of all births. The Blood Spot Test involves taking a small blood sample from the soft part of the heel of the foot. The healthcare professional will prick the neonate’s heel with a lancet similar to those used for blood glucose tests. They will then transfer four drops of blood ontoa  special card, called a blood spot card. The healthcare professional must be well-trained in performing the procedure because there are specific regulations on the size and density of the blood drop. 

In the UK neonates are screened for nine rare genetic conditions, including Sickle Cell Disease, Cystic Fibrosis, Congenital Hypothyroidism, some Inherited Metabolic Diseases, and Severe Combined Immunodeficiency. Most babies won’t have a positive screening result for any of these conditions, but for those who do the benefits of screening can be enormous. Screening allows for prompt follow up with diagnostic tests ensuring that these diseases are identified early. This is vitally important for those conditions which have the best outcome if they are treated or appropriately managed before the child shows any symptoms.

Lucy described one benefit of screening for rare genetic conditions through the Newborn Screening Programme:

“Screening provides a unique avenue into inclusive healthcare because it is not subject to human factors. No matter your socioeconomic background, the language you speak, the area you live in, your baby will be offered the Newborn Screening.

As Newborn Screening has an exceptionally high uptake rate for those conditions, included diagnosis is far less likely to be influenced by social and health inequalities. This is not only beneficial for patients and families but for designing healthcare services and treatments based on knowledge of the real patient population, not just those we know about.”

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

Starting the Conversation

However, the concept and process of newborn screening is not without its challenges. One challenge has become increasingly pressing: due to 20 years of health science innovation we are able to diagnose and treat many more rare conditions than are currently being screened for. Therefore the field of rare genetic conditions has changed dramatically in a relatively short period of time and NHS services, including the Newborn Screening Programme could be seen as having to play catch up in a recently difficult health and economic climate.

It is important that the general public understands what the purpose of newborn screening is, what data is collected, and how it will be used, in order to give informed consent on behalf of a child. However unless you have been impacted by a rare condition yourself or through a loved one it may be difficult to fully grasp what the implication of screening, and especially a positive result will be. 

Then there are those who have a deep understanding of what the implications are of not screening for certain diseases – those who live with, care for someone or have lost someone to such a condition. With knowledge of the perils of late diagnosis when treatment it is only natural that groups are asking about how different conditions are considered for inclusion in the Blood Spot Test.

“I have seen firsthand the potential of new therapies to transform an individual’s life. However, we have to ask ourselves: why invest huge efforts and money on treatments, which can make a life-saving or life-changing difference to the lives of those with rare diseases if we are not optimising the delivery of them through screening?”

We hope you will join Lucy at RareSummit23, and the rest of the panel, to learn about the basics of Newborn Screening in the UK and hear the perspectives from different experts on this much talked about (but not universally well understood) subject.

There are just a few tickets left – get yours today.

Book your ticket for RARESummitt23

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Cell and Gene Therapies Transform the Rare Disease Horizon – Are We Ready to Deliver Advanced Therapies? The Perspective of Sheela Upadhyaya, a Rare Disease Consultant

Cell and Gene Therapies Transform the Rare Disease Horizon – Are We Ready to Deliver Advanced Therapies? The Perspective of Sheela Upadhyaya, a Rare Disease Consultant

by | Sep 21, 2023 | Collaboration, Drugs and pharmaceuticals, Genomics, Healthcare, RAREsummit

Cell and gene therapies transform the rare disease horizon. They hold the power to transform patient’s lives. Are we ready to deliver Advanced Therapies? Sheela Upadhyaya is an independent rare disease consultant who has eighteen years of experience in the rare disease arena. She discusses the challenges and opportunities involved, expressing that collaboration is the key to helping deliver them synergistically.

 

Sheela Upadhyaya

Sheela Upadhyaya, an Independent Rare Disease Consultant, spends her days liaising with all parties that form the rare disease arena. She has had exposure to every nook of the rare disease community from patients and their supporting organisations, highly skilled clinicians, policymakers, and pharmaceutical companies. Her mission involves anything and everything which supports and cares for those with rare diseases, aiming to better their lives.

Sheela is immensely equipped for this endeavour, having worn many hats. She has spent the last twenty-five years in the life sciences industry. Her journey into the rare disease community came to fruition by fluke when she applied to work a role commissioning rare disease service, primarily in Genetics and Metabolic, for the NHS. Sheela then moved on to lead the NICE Highly Specialised Technology Programme at NICE. The programme evaluates medicines and technologies for very rare conditions. Sheela was also instrumental in delivering a strategic response for NICE against the Rare Disease Framework.

Sheela quickly learned that rare diseases are immensely underserved, recognising a real need for listening to the needs of rare disease patients and their lived experiences. This need for empathy, transparency, and uniting perspectives inspired her to continue championing the rare disease community, to which she has now contributed for the last eighteen years.

Sheela is shown from the shoulders up wearing a white shirt. She has dark waved hair to the shoulders and wears dark red lipstick.

“I pride myself in listening as much as I can to the needs of patients, their supporters, carers, and family members, so I can reflect that back in what I aim to deliver. But part of my role is also explaining why some things can’t happen.”

The Advancement of Rare Disease Therapies

Throughout her time working with the rare disease community, Sheela has witnessed the evolution of Advanced Therapies, or advanced therapeutics, which hold the power to transform the rare disease horizon. Advanced Therapies include interventions such as cell or gene therapies, which alter the molecular makeup of those with rare diseases, changing the expression or course of their condition. They focus on correcting the root cause of the disease as opposed to treating the symptoms. For many with rare diseases, they can transform what this means for day-to-day life and their future.

In the last five years, collaborative teams have made huge advances in innovating and successfully delivering these treatments to the rare diseases community. 2022 was a landmark year for such interventions, with Upstaza for AADC deficiency and Roctavian for Haemophilia A making their way into healthcare provisions. However, as the gene therapy field continues to advance, significant challenges remain, from their safety and efficacy to their accessibility and the suite of logistical considerations involved in their delivery to their recipients.

The healthcare system isn’t always ready to receive new therapies with complex storage, staffing, and infrastructural issues which may be unique to every new treatment, at each step. The healthcare system must shift and adapt to this each time, which is a huge challenge.

“To give an analogy concerning a single issue, storage: how many fridges is a hospital expected to have for each of these therapies, which may each have different storage requirements, which might only be for one or two patients?”

Collaborating for Successful Delivery

Though gene and cell therapies have become available to small, select groups of rare disease patients, 95% of rare diseases still have no therapies available to them. Sheela highlights how meaningful collaboration with patients is instrumental to developing new therapies and setting realistic expectations for how and why pre-existing therapies are delayed, aren’t widely accessible, or are not affordable. In short, “it is not as easy as it sounds, despite many parties with the same good intentions working really hard to deliver them for patients.”

As options for Advanced Therapies develop, the pertinence of these pressing challenges expands with them. Sheela expressed how collaboration between all stakeholders is necessary:

“For example, in returning to the fridge analogy, it is essential for pharmaceutical developers and manufacturers to consider the relevant infrastructural considerations. Without this approach, it would create unnecessary inefficiency in a healthcare system that strives to be as efficient as possible and whose efficiency is instrumental in delivering successful patient care. It goes both ways – those managing healthcare provisions must be open-minded in accommodating novel delivery approaches, which may change the status quo of how things have been done.”

For patients, Sheela describes how collaboration and transparency in raising the conversation about the stark challenges in implementing advanced therapies are essential for helping patients and their supporters orient themselves through layers of decision-making, the impact on their lived experience with their condition, and how they feel about these prospects.

 

Picture shows DNA lit up in bright colours on a dark background

Bringing Stakeholders Together

At Raresummit23, Sheela, alongside CamRARE Trustee, Emma Green, will host a panel discussion on Advanced Therapies, particularly navigating challenges and fostering collaboration for patient access. It is rare to see all stakeholders in a project represented, more so sat in physical proximity. The panel brings together an impressive wealth of experience and expertise which reflect the complex journey of Advanced Therapies’ innovation, development, delivery, and application. The panel allows for candidly discussing challenges with transparency, combining multi-stakeholder perspectives, and providing the most holistic approach to improving patient outcomes.

As Sheela knows too well, the science of Advanced Therapies is incredibly exciting, especially for patients. Collaboration is the key to helping deliver them synergistically:

“The hope is that anyone interested will leave with a better understanding of the layers of complexity: from innovation to pre-treatment activities, to their delivery in a healthcare setting, to post-treatment care. Each panel member will bring their own nuggets of insight and education we’ve not heard before.”

“While we should celebrate that progress is being made to deliver these important medicines to patients, we acknowledge that there are still challenges in the journey ahead. Our objective is to foster collaboration, raise awareness of the complexities, and pave the way for a future where patient access to Advanced Therapies is seamless, equitable, and life-changing.”

Emma Green

Trustee, CamRARE

Join Sheela, Emma, and the panel for this dynamic discussion at RARESummit23. They are solving challenges through collaboration.

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Learning from the Rare Disease Community: Enhancing Facial Recognition AI Technologies for Improved Accuracy in Identifying Individuals with Facial Deformities

Learning from the Rare Disease Community: Enhancing Facial Recognition AI Technologies for Improved Accuracy in Identifying Individuals with Facial Deformities

by | Sep 18, 2023 | Uncategorized, Artificial Intelligence, Community, Raising awareness, RAREsummit, Technology

Facial recognition technology has made significant advancements in recent years, transforming various industries and enabling efficient identification and authentication processes. However, one area where these technologies often fall short is accurately recognising individuals with facial deformities. This limitation has profound implications for people with facial deformities, who may experience challenges in accessing services, completing job applications, security checkpoints, and even social interactions. This blog explores how artificial intelligence (AI) could play a pivotal role in improving facial recognition technologies to accurately identify individuals with facial deformities.

 

Understanding the challenges

Facial deformities encompass a wide range of conditions, including craniofacial anomalies, burns, scars, birth defects, and other facial irregularities due to rare diseases. These conditions can significantly alter an individual’s facial features, making it difficult for conventional facial recognition systems to identify them accurately. Traditional algorithms are often trained on databases that primarily consist of images of individuals with typical facial appearances, resulting in biased models that struggle to recognise those with facial deformities. Amit Ghose, an Asian male born with Neurofibromatosis Type 1 (NF1) resulting in facial deformities, knows only too well the issues with AI and facial recognition:

“I feel that that AI is quite discriminatory. And someone who lacks confidence or someone who is insecure about their appearance already, to have that lack of facial recognition and rejection could be quite detrimental to their already lack of confidence that they have.”

Amit was determined to find out if AI could be improved to help in specific uses such as security at airports. His initial research highlighted that the solution seemed to be to bypass the system, and for those individuals not recognised, they would be escorted manually.  For Amit, this felt wrong.

“You can imagine if you’ve got a queue behind you, how humiliated you could feel if the system was still rejecting you. Now, how is that solution just to let people bypass a security feature?”

Amit Ghose

Motivational speaker, coach

The Role of AI in Improving Accuracy

Artificial intelligence offers promising solutions to address facial recognition technologies’ limitations when identifying individuals with facial deformities. By leveraging algorithms and advanced machine learning techniques, there is a very real opportunity to drive positive change for inclusivity. And that approach has to include partnership working with those communities that would benefit, as Amit suggests:

“The solution should be that you work with us to enhance the software and the application. You need to work with us to understand and raise awareness of the issues we face. So software companies, you guys need to do something.”

 

Amit suggests a call to action could include the following:

 

  • Diverse and Inclusive Training Data: To overcome the bias in training data, AI algorithms should be trained on more diverse datasets that include images of individuals with various facial deformities. Collecting and curating extensive databases with labeled images of individuals with facial anomalies can significantly improve the accuracy and reliability of facial recognition systems for this population.
  • Transfer Learning: Transfer learning enables the application of pre-trained models that have been trained on large-scale datasets, such as general facial recognition databases. These models can be fine-tuned using smaller, specialised datasets of individuals with facial deformities. By building upon the existing knowledge of facial features, transfer learning can improve the accuracy of recognition for individuals with facial anomalies.
  • 3D Facial Recognition: Conventional facial recognition systems primarily rely on 2D images, which may struggle to accurately capture and identify unique facial characteristics in individuals with deformities. 3D facial recognition, utilising depth-sensing cameras or other technologies, can capture the three-dimensional structure of a face, including subtle details. AI algorithms can then be trained to process this data and recognise individuals with greater accuracy, even in the presence of facial deformities.
  • Facial Landmark Detection: AI algorithms can be employed to detect facial landmarks, such as the position of the eyes, nose, and mouth, in individuals with facial deformities. By accurately identifying these key points, algorithms can normalise the facial images, compensating for deformities and making recognition more reliable.
  • Adaptive Algorithms: AI-powered facial recognition systems should employ adaptive algorithms that continuously learn and adapt to the unique facial features of individuals with deformities. This adaptive approach would allow the system to refine its recognition capabilities over time, enhancing accuracy and reducing false negatives.
  • Ethical Considerations: As with any AI application, there are important ethical considerations when it comes to facial recognition technologies for individuals with facial deformities. The utmost care must be taken to ensure privacy, data security, and protection against potential misuse or discrimination. Transparent data collection and model development processes, as well as ongoing audits, can help address these concerns and ensure that the technology is used in an ethical and responsible manner.

 

A future with AI

Facial recognition technologies hold immense potential to improve the lives of individuals with facial deformities by enabling accurate identification and access to various services. By harnessing the power of AI, through diverse training data, transfer learning, 3D recognition, facial landmark detection, and adaptive algorithms, we can overcome the limitations of current systems.

However, it is crucial to approach the development and deployment of these technologies with a deep commitment to inclusivity, fairness, and privacy. And to work closely with organisations, networks and individuals like Amit who experience and understand the challenges and wish to support AI technologies to develop and recognise them. With continued advancements and ethical considerations, AI can revolutionise facial recognition, providing a more equitable and accessible future for individuals with facial deformities.

“I think when it comes to educating everyone about how to deal with people with visible differences and also with rare diseases is where you can, as much as you can, try and treat them with that dignity, that they are normal and normalise everything.”

Amit Ghose

Motivational speaker, coach

We throw down the gauntlet to those working with AI to come and join us at RARESummit23. Amit will join us, alongside a wealth of diverse speakers, set to delve into the rare disease communities’ most pressing questions, scientific advances, and wishes for the future.

 

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I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

by | Sep 6, 2023 | Community, Raising awareness, RAREsummit

Can you imagine being a young, ambitious, deafblind scientist with a small handful of rare diseases and being passionate about disability advocacy, determined to make your mark in the competitive world of Science, Technology, Engineering, and Mathematics (STEM)? Then, meet Max, who is doing exactly that. This is the inspiring story of Max Fisher, who faces extraordinary challenges in their pursuit of a career in the STEM industry. Max is a cell line engineer at Revvity and co-lead of their new Disability Employee Resource Group.

 

Max Fisher

Max is DeafBlind, has Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Visual Snow Syndrome, and Cold Urticaria. Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that causes chronic pain and joint dislocations. Postural Orthostatic Tachycardia Syndrome is a neurological condition that affects Max’s heart and causes fainting, tachycardia, and palpitations. Cold Urticaria means Max is allergic to the cold- touching cold causes hives, and breathing cold air causes Max’s airway to swell up. Visual Snow Syndrome causes TV static across their entire vision, as well as light sensitivity, night blindness, and afterimages. Max is also deaf.

Max’s journey as a young deafblind disabled scientist is filled with barriers and prejudices, yet it also showcases the resilience, tenacity, and determination required to break through these obstacles and make a profound impact on the scientific community.

Image shows a person in a light brown shirt with teal slick back hair and tinted glasses from the shoulders up. They are smiling.

“I am a DeafBlind and Disabled Scientist, and I advocate for people like me with rare diseases in STEM. Life with a rare disease in STEM has been difficult. From university employment teams telling me I’d never make it into a lab, to industry assuming I can’t get into the building. In fact, my disabilities make me a better scientist, and make me better at adapting to a changing situation than others.”

Understanding the Rare Disability

Before delving into the challenges faced by this remarkable scientist, who studied Pharmacology at University, it is essential to understand the unique nature of their disability. Being both deaf and visually impaired alongside rare disease complications means that Max is presented with a set of obstacles that few can comprehend. 

As Max indicates: there is such a stigma around disability that it kept them unemployed for 3 and a half years. For 7 and a half years- throughout their undergraduate degree, postgraduate degree, and unemployment, they were told that they could not be a scientist because they are disabled. But, in their words, they are the phenomenal scientist they are because they are disabled.

Limited Job Opportunities

Despite possessing a brilliant mind and strong scientific acumen, Max notes that finding limited job opportunities in the STEM industry is normal. It took Max over three years of unemployment to realise that the issue did not lie with Max but with employers who overlooked Max’s capabilities due to preconceived notions about the capabilities of people with disabilities, especially those with multiple sensory impairments. The competitive nature of the job market compounds this issue further. Max knows this only too well:

“In an interview, everything was going well. They asked me about team working skills and leadership skills, and I talked about being a wheelchair basketball coach… “wheelchair…? basketball?” interview terminated as they “had everything they needed.”

 

Max Fisher is standing in a white lab coat alongside two colleagues. they are stood at a table presenting their science to guests of RAREfest22.

Attitudes and Prejudices

One of the most significant challenges faced by any young disabled scientist is combating the attitudes and prejudices prevalent in society. Many people hold misconceptions about the capabilities of disabled people, assuming they cannot perform at the same level as their non-disabled peers. Max is frustrated that people have closed minds, jump to conclusions and do not listen. These prejudices can result in subtle discrimination, intentional or not, which impacts confidence and self-esteem:

“I’ve actually been accused of faking/exaggerating my visual impairment because “clearly you can see if you’re a scientist, it can’t be that bad, you can’t be blind,” which comes from a fundamental misunderstanding of what deafblindness is and what visual impairment is. Similarly, deafness is for the people who say, “but we’re talking now“. I’ve experienced these prejudices in the medical field, too. I’ve been diagnosed with Cold Urticaria TWICE because “it’s so rare, you can’t have it”.

 

Overcoming Challenges

Despite the myriad of challenges, Max is not one to be easily deterred. Their journey is a testament to the resilience and strength of character that can be found in the face of adversity. Here are some ways Max has overcome the obstacles:

Advocacy and Awareness

Max has become an advocate for themselves and others with disabilities. They actively work towards raising awareness about the capabilities of disabled individuals and the need for more inclusive practices in the STEM industry. Educating others about their challenges and strengths breaks stereotypes and promotes understanding. As Max demonstrated when they first joined Revvity:

“You know, deaf people like me are everywhere. So when I started, I made a deaf awareness week newsletter that went out to the local site. As I was new, I didn’t want people to think that I was ignoring them. And I had so many people come up and say to me ‘I have hearing loss too’ or ‘I know someone with hearing loss and they really struggle with their confidence’. And I was able to have a discussion with them and reassure them that it’s totally normal. Hearing aids are normal. Tinted lenses are normal. Wheelchairs are normal. It’s all normal.”

Accessibility and Facilities

Max embraces cutting-edge adaptive technologies and develops personalised strategies to overcome the barriers they face. Moreover, the STEM industry often lacks adequate accessibility and accommodation for individuals with disabilities. Laboratories, research facilities, and workplaces may not be designed with the specific needs of deafblind and disabled scientists in mind. Simple tasks such as accessing laboratory equipment, conducting experiments, or interpreting data graphs become challenging without appropriate adjustments. Max collaborates with their labmates and the facilities team, who are very supportive.

Supportive Networks

Building a network of supportive mentors, peers, and colleagues plays a vital role in the success of Max. Supportive individuals who recognise their potential and provide encouragement help them navigate the challenges and keep their aspirations alive. As a Co-Lead for Revvity’s Disability Employee Resource Group, Max is able to drive positive change: 

“And I’m in an incredibly privileged position that I am a co-lead of our new Disability Employee Resource Group. So I have a voice where I can highlight inaccessibility in all walks of STEM, for example visually accessible slide decks. They’re fully on board, and full of encouragement. ‘Sounds awesome! Make it!’. So I made it.”

Perseverance and Determination

Max’s journey is fuelled by unwavering determination and perseverance. They do not allow setbacks to define their path, using each challenge as an opportunity to grow and learn. Max’s passion and drive enable Max to continue pushing boundaries and exceeding expectations. The final words rest with Max:

“Disabled people CAN. Just be open minded. Being disabled makes me a great scientist, and a great employee. Especially in STEM. We look at standard deviations all the time. You have to have a deviation before you can have a standard.  I want people to not panic when faced with a disabled person because we’re really cool, and we bring so much to everything we do. I don’t wish that I wasn’t disabled, because I wouldn’t get to do all this cool stuff on top of everything else. It’s awesome! Being a scientist is cool, but being a disabled scientist is cooler.”

You can learn more about Max and their perspective on navigating their youth as a disabled scientist at RARESummit23, where they will be accompanied by an expert Youth Panel.

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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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RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

by | Sep 15, 2021 | Community, Drugs and pharmaceuticals, Events, Healthcare, Med tech, Patient Groups, Raising awareness, RAREsummit, Treatments

Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21 logo for website menu only

On 7th October 2021, we’re holding our 5th RAREsummit – CamRARE’s flagship event – bringing together more than 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.

One of the key areas we’ll be exploring is how far patient group and industry relationships have come over the last five years – and why collaboration between the two is so vital when it comes to driving forward progress in rare diseases. Through a mixture of talks, panel discussions, fireside chats, workshops and Q&As, we’ll be sharing some inspirational examples of how advocacy groups and companies have been working together to achieve fantastic results.

Advocacy groups for rare diseases have become more than voices; they are an essential source of transformational therapeutic advances. Increasingly patient groups want to be involved in the drug development and tech solution process earlier and more often. From bringing their expert patient or caregiver insights to clinical trial design to ensuring acceptable protocols and helping to raise awareness of ongoing clinical trials, or mounting viral disease awareness efforts that help to condition the markets, today’s patients are increasingly empowered and savvy – and they offer a powerful voice.

With the rise of social sharing online, traditional boundaries are evaporating. Companies are now actively listening and engaging with patients from the outset – and are working out how to make sure these collaborations are as impactful and effective as they can possibly be.

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 4
photo of Alex Lloyd
Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

One of the organisations we’ve partnered with for RAREsummit21 is Eastern AHSN (Academic Health Science Network). At last year’s RAREfest, they asked people living with rare conditions what their biggest everyday challenges were. Our community spoke and we listened. The innovation community has responded with tech and digital solutions to help with care coordination, wellbeing and mental fatigue – or ensuring health information is done well. At RAREfest21, we will get the opportunity to hear five of the best solutions presented live. Innovators will but put through their paces in a dragon’s den style session by judges Lou Jopling – Commercial Director at EAHSN, rare disease policy expert Alastair Kent, Sean Richardson the General Manager of Alexion Astra Zeneca, founder of Timothy Syndrome Alliance – Sophie Muir and CamRARE’s Chair, Dr Gemma Chandratillake. It is set to be a riveting session!

Alex Lloyd, Principal Advisor and Commercial Delivery Lead for Eastern AHSN, told us:

“We work with so many incredible innovators whose great ideas have come from a variety of sources. Often an idea comes from clinicians who have spotted an unmet need, or a technical expert who understands how technology can be applied in different ways to help different patient groups. Some of the best ideas, however, come from the lived experiences of patients and their families.

The first step in alleviating a problem is understanding it, and who knows the impact of a rare disease better than somebody living with one? That’s why we’ve collaborated with the CamRARE to engage with the rare disease community to really listen and understand the issues they face daily. We found that one of the biggest challenges was access to clear, reliable health information about rare diseases, whilst many struggled with disjointed care. Another common theme was the impact a rare disease can have on an individual’s wellbeing, with many people suffering from mental fatigue.

By gathering these insights, finding common themes and developing them into challenges, we’re able to work with innovators to find solutions that have a real impact in improving the lives of people with rare diseases and their families. We hope to demonstrate the value of starting with listening to the community, empowering them to shape healthcare services to provide real benefits for people with rare diseases.

At RAREsummit21, we are giving the five most promising innovations a unique opportunity to pitch their idea in front of a live audience and gain valuable feedback whilst creating connections to help them take the next steps in their innovation journey to deliver impact.

We believe that citizens, academia, health services and industry will achieve so much more working together than they will in isolation and we’re excited and honoured to be involved in RAREsummit21.”

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 5

AMPLIFYING patients’ voices 

At RAREsummit21, we’ll also be hearing inspiring examples of how patient groups are making their voices heard. We’ve been collaborating on a brilliant project with Prime Global to help patient groups develop impactful posters and pitches for the gallery on our virtual platform.  The passionate Emma Sutcliffe from Medical Communications agency Prime Global will be running a session that shares the work they’ve undertaken with these groups and and why it’s essential to amplify the patient voice through these Patient Voice Publications.

Amy Sharples from Prime Global told us: “Patient Voice Publications tell the patient story – from real world experience and burden of disease to hopes for the future. They are stories told by patients for pharma, to focus on what matters. Ultimately, this leads to the triple win – better outcomes for patients, for pharma, and for society.”

At the session, you will hear how these publications are having a real-life impact for patient groups, as Jess Duggan – mum to a child with SYNGAP1-related NSID (non-syndromic intellectual disability) explains: “Taking our story to pharma via Patient Voice Publications helps us raise awareness and highlight what’s vitally needed so that we can work together to deliver better support, diagnosis, treatment, outcomes, and hope, for patients and their families.”

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 6
photo of Sophie Muir
Image: Sophie Muir Chair of the Timothy Syndrome Alliance 

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

Is serendipity is enough when it comes to developing impactful collaborations between patient advocacy groups and industry? Can systematically linking stakeholders in the right setting help to catalyse better collaborations?

To test this hypothesis, CamRARE recently ran a partnering event through their Companies Forum between rare disease patient groups and companies.  Sophie Muir, Chair of Trustees from the Timothy Syndrome Alliance took part and said “There are many overlaps with rare diseases. Bringing stakeholders together to share experiences increases opportunities of contacts and knowledge for both patient groups and industry.” 

At RAREsummit21 we’ll be showing a short film on demand, the story of an ultra rare epilepsy patient group, Ring20 Research and Support, and their collaboration with sequencing specialists Illumina.  Ring20’s CEO Allison Watson gave a moving talk to attendees at CamRARE’s RAREsummit in 2019, a talk which challenged industry to help unravel the diagnostic odyssey for their children. This call to action led to a serendipitous meeting with a representative from Illumina over lunch, and from there the collaborative UNRAVEL project was born.  Allison said:

“We’ve started an internal scientific collaboration, which has evolved from discussions with companies following your CamRARE RAREsummit last year and also involves another company following CamRARE’s invite for me to present at your Companies Forum – so your events have a HUGE amount of value to us!”

We’re big believers in the power of our network to connect the right people and give patient groups the platforms  they need to  tell their stories to the right people in the right way. 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

Book your tickets
Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 
Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

Book your tickets

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Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

by | Jul 23, 2021 | Collaboration, Events, Front page news, Patient experience, Patient Groups, Raising awareness, RAREsummit

Seeing Beyond the Diagnosis: a virtual exhibition that puts a face to rare diseases

When Patricia Weltin first put a call out for artists to paint portraits of children with rare diseases to share with the medical community, she had no idea how quickly the project would grow into a ground-breaking exhibition involving more than 70 artists and 135 children around the globe.

Beyond the Diagnosis first came to life five years ago when Patricia invited a handful of local artists and friends from the rare disease community in Rhode Island, USA to take part in a project that would encourage the medical community to look “beyond the diagnosis” to patients behind the disease.

Five years on, she has gathered portraits from artists and children with rare diseases living as far afield as Bali and Chile – and the artwork they have created together has touched the hearts and minds of tens of thousands of people at medical schools, hospitals, medical conferences and beyond.

Now Patricia is bringing a virtual gallery of these poignant portraits to the Cambridge Rare Disease Network’s RAREsummit21 on 7 October 2021. And it’s Patricia’s goal to make sure many thousands more people see this thought-provoking exhibition too.

Beyond the diagnosis logo for highlights page

We want to make people see our humanity, this is somebody’s child, brother, sister, grandchild, niece, nephew, friend. They’re just like other children.

Patricia Weltin

Hunter was diagnosed with Russell-Silver Syndrome, which is a growth disorder characterised by slow growth before and after birth. His portrait was painted by Rhode Island-based artist Dan Lake.

Hunter’s mother Tiffany said: “He is a happy, fearless child. He is a proud big and little brother who loves animals and has accepted that he is ‘different’ than the rest of the world and takes pride in who he is. He is full of life and is always in a good mood.”

Read more…

“People see the names of the disease and think it’s terrifying,” she adds. “They can’t engage with it, but they can engage with these kids through the artwork. We have so many artists using so many different styles and each portrait is a little gasp.”

A project from the heart to the heart

Patricia’s inspiration from Beyond the Diagnosis came from her own experience as the parent of two daughters who have a rare disease called Ehlers-Danlos Syndrome. It took 18 years for her eldest daughter, now 25, to receive a diagnosis and to receive the treatment she needed, including brain surgery.

Hunter portrait Beyond the Diagnosis

“I was interested in my connection to the doctors and how we could have them see us instead of seeing a complicated disease,” explains Patricia. “They needed to see that we were people and I think that is lost in medical school.”

“You can’t teach 7,000 rare diseases, so you have to be innovative and think about ways to engage medical students before they become doctors with the reality of what’s out there” she adds.

Medical students are often taught that, when they hear hoofbeats, they should think about horses, not zebras, explains Patricia – in other words, they should think about common diseases in the first instance.

Amber Beyond the Diagnosis Blog

Amber was diagnosed with Giant Axonal Neuropathy at the age of 5 when she started to have problems walking. Her portrait was painted by Venezuelan artist, Jota Leal.

Amber’s dad Miguel said: “Amber is the strongest girl I know. We call her Super Girl!”

​Read more…

“We want them to consider it might be a rare disease,” she says “We want them to think the hoof beats might be zebras!”

It was when Beyond the Diagnosis exhibited 35 portraits at Harvard Medical School that people started to take notice of the project. There was national and online media coverage. And when a producer called from the TV network CBS one Sunday morning, Patricia was completely taken aback.

“We had 7 million people learning about rare diseases,” she says “I believe it was the first time on a major US TV network that they talked about rare diseases as a whole and our unmet needs. The whole rare disease community was so excited and that just opened the floodgates. We had people contacting us from all over the world.”

Within a few years, Beyond the Diagnosis had 130 portraits representing different rare diseases touring each year to prestigious venues like the Food and Drink Administration (FDA) and the National Institutes of Health (NIH).

All of the artists give their time freely and many of them become very close to the families of the children they are painting – and go on to paint portraits for other families and children too.

“I always say it’s a project from the heart for the heart,” says Patricia. “I think that the connection and gift that the artists are giving is apparent in all of the work that you see.”

“This is someone doing their absolute best to capture these children – all of the work except one is done from photos. We give the artists all the information we can – we ask the parent to write about the child. So the artists are not just looking at a picture – they’re getting to know each child.”

The project was about to go global when the pandemic hit. So Patricia decided to take Beyond the Diagnosis online. The first virtual tour was seen by thousands of people in 23 different countries.

“I hate everything about Covid, but one of the bright spots is that we’ve found a way to reach people who wouldn’t have had the chance to see a live exhibit in a way that’s very calming and beautiful,” says Patricia. “It’s so beautifully done. You’ll see the portrait and you can click on a picture and it tells you about the disease, the child and the artist. You can sit and take your time and do it at your own pace.”

You will have a chance to see a specially tailored exhibition at the Cambridge Rare Disease Network’s RAREsummit21 on 7 October 2021. Sign up for your Vibrant Vital Virtual RAREsummit21 tickets for a chance to see the latest Beyond the Diagnosis Virtual Tour here…

For us, every day is Rare Disease Day. It’s the most difficult life imaginable. It doesn’t end for us. But we really want to share these beautiful kids from all over the world with the people who need to see them – it’s just so humbling. It refocuses your purposes on what’s important in life.

Patricia Weltin

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