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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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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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Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

by | Sep 23, 2023 | Community, Education, Unique Feet

Joe Clymer is a 5th-year medical student. Over the summer of 2023, he completed a 75-hour internship with the Cambridge Rare Disease Network. This internship aimed to identify common problems that families with rare diseases face and create a set of resources to help. Joe describes his inspiration, findings, and future plans in the following blog.

 

What I did during my internship

I spent about 10 hours speaking to families and reading about common problems. I spent the next 65 hours researching what they told me in detail and drawing on my clinical knowledge to find new solutions.

I have just finished five years of university, encompassing four years of medical school and one year of specialised Emergency medicine (EM) teaching. Before starting at CamRare, I spent my days in the back of ambulances or diagnosing patients in the emergency department. My year in EM was high-octane and exciting and not full of older adults falling over or teenagers with the flu. So why, on my summer off, did I make the change to work with a rare disease charity? The short answer is that I believed in what they wanted to achieve. The long answer is to read the rest of this blog.

Image shows a young male with light brown hair raising his hand 'hello' and dressed in a diving suit.

Why I chose CamRare

I started at Keele University at the age of 18. I was fortunate to get in first time due to my preparation, dedication to medicine and a healthy amount of luck. When I arrived, I thought I knew I had to learn the science and treat patients. How wrong I was. As I later learned, good medicine is about holistically treating the individual, not the disease. It’s about biology, psychology and sociology. I also learned how societal inequalities, like race and wealth, affect health outcomes.

Let me give you an example. In Stoke on Trent, the city I trained in, there is an 8-year difference in life expectancy between the rich and the poor: same city, GPs, and NHS services. The only difference is finance. Throughout medical school, I became more aware that these differences exist. I came across the CamRare internship, and by working with them, we aimed to provide free information to help make healthcare more equitable.

CamRare has a community called the Unique Feet (UF) Community. They are a group of families whose children have rare diseases and do fun activities together so their children can have a more normal life. My job was interviewing parents, finding out their financial and social problems, and working with the community to find solutions. I have made a resources page on different ways to get funding for children with rare diseases, which may directly benefit their children’s care. I learned in medical school that social and psychological factors are as important as medical treatment in managing chronic diseases. CamRare is a charity that recognises this and is working to assist.

As a medical student, I have a very narrow skill set, including communication skills, empathy, and an understanding of science. I possess a strong and thorough comprehension of the shortcomings of the NHS. Fortunately, these skills meant I was perfect for this internship. Our NHS is excellent at providing life-saving care but is less excellent at providing long-term care to patients with chronic diseases; try getting a GP appointment. I understand rare diseases and the NHS, so I was ideally placed to discuss problems and potential solutions around health and social care.

I also chose to work with CamRare because of their amazing work for parents and families with rare diseases. The Unique Feet project, described below, provides a community and care for people who would otherwise be isolated. But unlike most charities, CamRare doesn’t just do one thing; they also invest in raising awareness amongst doctors and research, putting patients in direct contact with industry and hosting an annual research summit to discuss ideas.

Who are the Unique Feet (UF) community

Since its birth in 2016, community and problem-solving have been at the group’s core. Mums meet for coffee, and parents share information about the benefits of child genetic testing by exchanging consultants’ phone numbers. (I’m unsure how the consultants feel about this, but if children didn’t wait six months for basic tests, their parents might be more patient). Suppose you have a problem with your child’s rare disease. Who better to ask than a group who’ve been through this before? Helping each other is at this group’s core, so I had no trouble getting interviews with these busy parents so they could help me type up their knowledge for the website.

CamRare is a particularly good support group because rare diseases aren’t that rare. 1/17 people will have a rare disease, with most starting in childhood. But if only five people in the country have the same disease, and you have no idea where they are, where do you go for support? The UF team arrange 2-6 activities a month for families with rare and undiagnosed diseases. With children and parents coming and mixing, it turned into a support group over the years. Parents shared stories about their problems, and others listened and gave advice. New parents joining had new problems discussed informally whilst climbing and pond dipping, and together, a community was built that advised and helped each other.

To further develop this community, siblings come to activities. It can be challenging for siblings of disabled children; they often get less attention and have more responsibility. At UF, children with and without disabilities play and interact together, and the parents love it because their children can be children in a free, non-judgmental space. What started as play for children has turned into a supportive community that is irreplaceable for parents.

 

Parenting a child with a rare disease is difficult. Many parents say they have felt isolated and question their parenting ability. But by attending events and speaking to other parents in the same position, the supportive community helps to listen and get through situations they have all gone through. I decided to look into support for parents and used quotes from our UF members to signpost parents to mental health services. It’s hard to accept support, but hopefully, by formalising it online so people know that others have gone through the same things, parents will be more likely to reach out.

What I learned

My first job was to sit down and interview the parents in the UF community. They would tell me the common challenges they faced and how they solved them. I would then take this information, read around the subject, and present it as a fact sheet on the website. These interviews were tough. I asked them to discuss their feeling about the worst days of their lives. We discussed mental health and the fear of not knowing if your child would survive. In my 8 hours of interviews, I saw what it might be like caring for these children and developed a deep admiration for the parents I spoke to. They’d battled through a difficult school system, nightmare social services visits, long delays on appointments, difficult-to-understand doctors and a sheer volume of hospital appointments that the best secretaries in the world would struggle to keep up with.

All of this went on for years, yet every one of them had volunteered their own time in their busy lives to sit and talk to me so I could share their information and perhaps make things easier for the next family; I believe that is the mark of a community that cares. The parents taught me a lot, and with their knowledge, I could move forward to researching their problems.

These interviews gave me invaluable exposure to rare diseases. Rare diseases often present complex medical challenges, and these interviews exposed me to a diverse range of conditions. This exposure helps broaden my diagnostic and problem-solving skills, as I have encountered conditions not covered extensively in my medical curriculum.

I also developed my communication skills. Families face unique emotional and psychological burdens due to the rarity of the condition and the challenges in obtaining accurate diagnoses and appropriate treatments. Interacting with these families enhanced my ability to communicate with empathy and sensitivity, skills that are crucial for all medical professionals. I was most grateful for the openness and honesty the UF families gave me.

From the interviews, I identified six topics parents would like more information on and set about gathering information on them. One area that didn’t make it in but deserves an honourable mention was the theme of fighting. All the parents emphasised the importance of fighting for their child’s needs. I heard many stories about appealing educational health care plans and disabled living allowances. These parents pointed out that these benefits and support are out there but not easy to find, and it can be hard to get what you deserve.

“Whilst researching solutions to common problems, I realised rare diseases often lack established treatment protocols, and I saw the importance of understanding the needs of UF community. It made me reflect on how far we still have to go in modern medicine to design a system that is equitable to all. I also realised how important industry investment and research into rare diseases is to finding treatment for these diseases.”

My future

CamRARE offered me an amazing experience to engage thoroughly and understand rare diseases, and it’s one that I shall carry into my medical career. Beyond clinical skills, I believe it nurtured empathy, research acumen, advocacy skills, and a profound interest in the rare community. These benefits will help me shape into a well-rounded, compassionate, and proactive medical professional who is now better prepared to address the unique challenges presented by rare diseases and make a meaningful difference in the lives of patients and their families. This internship exposed me to diverse perspectives and challenged me to confront medical uncertainties. Dealing with rare diseases teaches humility, resilience, and adaptability, essential in a medical career. It made me think about the challenges facing the provision of equitable care to a wide range of patients and their families.

I have learned many practical skills. I have learned about benefits, housing, genetic testing and education for disabled children. I have been involved in web design and building wireframes. I have been free to work independently under a boss who has trusted me to guide my project, and I have delivered on time. But most of all, I have been part of a project I believe in. Health is made up of biological, psychological and social components.

I have worked with CamRare and their community to build resources to address psychological and social support for families that need them. And if I’m a halfway decent doctor, I think I should have the biological bit sorted. 

Image shows a young male with light facial hair dressed in a protective red suit in a hospital setting. He is smiling.

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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.

 

Book your ticket for RAREsummit23

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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.

Book your ticket for RARESummitt23

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Challenges facing families after a rare disease diagnosis

Challenges facing families after a rare disease diagnosis

by | Feb 16, 2023 | Community, Patient experience, Rare Disease Day

Cambridge Rare Disease Network talks to Karen Whitehead about the challenges of parenting, living and working with a rare disease diagnosis within the family.

Kate Whitehead was 28 when she was told that she had Pregnancy Associated Osteoporosis which is a very rare form of osteoporosis, sometimes leading to extreme bone mass loss. In most women, osteoporosis will partially or fully recover spontaneously after the pregnancy. For Kate, it meant decades of living with an invisible disability.
Osteoporosis literally means ‘porous bones’ and can be a severely disabling disease. Each year it causes hundreds of thousands of hip and other fractures in the UK alone. For Kate, it meant also that she had additional worries about being able to be a good parent or if she could consider any future pregnancies. Even more worrying was what would it mean for Kate’s daughter. Kate explains

“What is also unknown, is the impact on our children, of this bone disease. Addenbrooke’s hospital also took on my daughter as a patient, when a dexa scan showed she had osteopenia in her 20s”.

Cambridge Rare Disease Network - Challenges facing families after a rare disease diagnosis 3

Kate was very fortunate in being referred to the Addenbrooke Hospital under the Metabolic Bone Disease Unit where she remains a patient to this day. As advances in genetic testing become more available this can provide much-needed support to families. Kate was delighted to be able to take advantage of more available testing and treatments.

“Addenbrookes enrolled us both in their GEL genetic research and also the UK’s 100,000 genome research project. However, although I was incredibly worried when she fractured after a fall recently, all our family were delighted to hear that her latest dexa showed she had normal bone density for her age. The impact on our children of this rare disease remains unknown, but where most cannot obtain dexa scans, my daughter’s latest medical information has truly given hope to so many other PAO mums & their children”.

 For me, the wheel has now come full circle, my daughter is newly married and I am looking forward to becoming a grandmother. Now, thanks to Addenbrooke’s hospital care, I will be able to pick up and cuddle my grandchildren and play with them – to do things with my grandchildren I was unable to with my own child.
Karen Whitehead

Rare disease patient

Whilst Kate and her husband have moved to be nearer to their daughter, she has maintained long-distance Addenbrooke’s hospital support which is still very important for her and her family.

Sadly, Pregnancy Associated Osteoporosis continues to remain a rare, unknown disease. However, there is now progress being made to better understand this debilitating condition and offer hope to new mums. For the first time in 30 years, there are two major new UK research projects, the Royal Osteoporosis Society funded project at the University of Edinburgh and also the Royal National Orthopaedic Hospital in-house funded project. Furthermore, PAO is also now included in the Rare Undiagnosed Disease Study study of rare bone diseases, by the University of Oxford. These research projects will set the future for better detection, prevention and care. Kate fully recognises this importance.

“I believe that Addenbrooke’s hospital Rare Bone Disease Clinic has one of the largest clinical groups in the UK of patients with pregnancy-associated osteoporosis and they are fully supporting the new research and helping their patient participation, by arranging blood tests and providing patient data to the research teams. I recently met up with some of the young mothers with this disease, when I was last in Cambridge for my annual clinical consultation. It was so upsetting to learn these young mothers are still facing a terrible diagnostic odyssey, over 30 years since I was diagnosed with such difficulty. This particular rare disease truly needs to be diagnosed quickly, to prevent further harm to both mothers and their babies.”

Addenbrooke’s is also supporting the Pregnancy Associated Osteoporosis group of patients and Cambridge Rare Disease Network, in currently trying to raise awareness about this condition. At present, there is a new campaign being held around Rare Disease Day 2023.

 

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Living with a very rare bone condition

Living with a very rare bone condition

by | Feb 9, 2023 | Community, Patient experience, Rare Disease Day

Pregnancy is normally a time of excitement for mums to be. But for some, it is a catastrophic event due to a rare condition called pregnancy-associated osteoporosis (PAO). As Karen Whitehead, herself felt.

‘27 years ago, I was about to have my first baby. My husband and I were excitedly anticipating our new family life. Instead, I experienced back pain during the last few weeks of pregnancy and my spine collapsed in labour, leaving my back broken in four places and me three inches shorter. However, nobody in the hospital would believe anything serious was wrong and I was discharged home 24 hours after giving birth’

When we think of osteoporosis, we often associate the condition with older members of our society, rarely expecting pregnant women to be affected. PAO is a severe type of osteoporosis that arises during pregnancy, after delivery, or during breastfeeding. Women lose some calcium from their bones during a normal, healthy pregnancy and breastfeeding. But in women with PAO, that calcium loss leads to significant bone fragility, particularly in the vertebrae. They can have spine or other fractures with little or no trauma. It is so rare that clinicians currently understand so little about PAO. Indeed, research on what could cause bone fractures during pregnancy is still very much in its infancy, with many cases going undiagnosed or prompting further investigation due to the condition’s rarity.

Clinicians do not know how many women have it and for many obstetricians they will never have encountered women with it, making for a challenging diagnostic pathway when a woman presents with PAO.

In the most common scenario, PAO is discovered after a pregnant or breastfeeding woman complains of severe back pain, and imaging reveals multiple vertebral fractures. Most of these women would not have had a bone assessment before this happens, and there is often a considerable delay between the onset of symptoms and diagnosis.

Karen is one of these women who aged 28 had a spinal collapse whilst in labour. She found herself in a situation where not only could she not look after her baby but struggled to be believed and like others with this condition Karen explains her frustrations.

Cambridge Rare Disease Network - Living with a very rare bone condition 4

“A terrible diagnostic odyssey, with hospital staff, midwives, health visitors and my GP refusing to believe my husband and myself that anything was wrong. My husband insisted we had to change GP and thankfully our new GP listened, believed us and started testing. But they had never heard of Pregnancy Associated Osteoporosis (PAO) and so were not testing or looking for it. Eventually, though an x-ray revealed spinal fractures, my back broken in different places, from labour and trying to lift my baby. Even seeing the x-ray, my GP queried had I ever been in a car crash or had any back injury previously.”

Women with PAO and vertebral fractures may have excruciating back pain, which can make it difficult to function and even more difficult to care for a baby. Women may also have other types of fractures that require urgent care. Aged 28, Karen was told that she had the bones of a 99-year-old woman and she was not allowed to hold, lift or carry her baby, for medical fear of new fractures.

 “‘Parenting with a new, disabling, painful, rare condition was incredibly difficult over the years. This particular bone disease has a huge mental health impact, from birth trauma to the feeling of failure as a mother, the impact on career, finances, and relationships, the horrific change in body shape arising from vertebral fractures and the ongoing fear of fracturing and living with huge amounts of pain’

Karen Whitehead

Rare disease patient

Karen found herself living a restricted life and had a long period as a wheelchair user, her family living constantly in the shadow of this frightening and debilitating disease. There is no mutually agreed opinion or guideline in the treatment of this condition and Karen found herself moving around hospitals and specialists, still without a treatment plan that would work for her. At the age of 50 she was still struggling physically and mentally.

“After 20 long years of this, I was approaching 50 and the menopause – the age when women usually get osteoporosis and break bones. In that immediate post-menopause period, women can lose up to 20% of bone and one in two women aged over 50 have osteoporosis and fracture. I’d already lived with severe pregnancy-associated osteoporosis for twenty years. I was already having ongoing easy fragility fractures. I was terrified of the future and the menopause”.

Luckily for Karen help was at hand, in the shape of Dr Ken Poole. Dr Ken Poole is a University Lecturer and honorary consultant rheumatologist at the University of Cambridge, who applies novel imaging techniques to investigate human bone diseases. Research in his bone group focuses on osteoporotic fragility fractures and osteoarthritis by examining the bone structure and shape in health and disease. Karen became and continues to be a patient at Addenbrooke’s Hospital under the Metabolic Bone Disease Unit, Dr Poole was able to direct Karen towards a new bone treatment and for the last ten years, this team has supported Karen through the menopause and beyond. Prescribing and advising on various ongoing bone treatments, some of which they have been instrumental in developing. Karen is delighted to be in a much better position and is excited that,

“From having the bones of a 99-year-old age 28, I am now 60 and my bones are now those of a 60-year-old. I have not had a single fracture, since being taken on by Addenbrooke’s amazing Hospital as a long distant patient”

Cambridge Rare Disease Network - Living with a very rare bone condition 5

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Sensmart – providing multi-sensory solutions

Sensmart – providing multi-sensory solutions

by | Sep 12, 2022 | RAREfest, Community, Med tech, Technology

Aisha Purvis has spent over ten years helping others in the health and social care sector. She has witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration.

Identifying challenges

During the pandemic, Aisha was completing her university placement as a mental health nurse. It was an immensely challenging time for those working in the health and social care sector. With over ten years of experience in the industry, she had developed for a keen eye for identifying current systems that weren’t effective and a passion for suggesting solutions. 

She witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration, exacerbated by staffing issues and the heart-wrenching events of the global pandemic.

For patients that are non-verbal, explaining their choices and preferences poses a huge obstacle. Aisha knew from her work as a care home manager and research as a student that 45% of patients admitted to the hospital risk malnutrition and dehydration.

Aisha also has a daughter diagnosed with Rett syndrome, which affects her MECP2 chromosome. Her daughter struggles with neurodevelopmental, communication, and motor difficulties.

“During a regression, my daughter would eat only pickled onion space raiders. I would come home every day to my blue-tongued little girl. I couldn’t bear to see my daughter struggle like I had seen my patients.”

Aisha Purvis

Founder , Sensmart

Cambridge Rare Disease Network - Sensmart - providing multi-sensory solutions 6

Suggesting solutions

Aisha came up with the idea of Sensmart and co-founded it with Alex Chikhani. Sensmart provides a multi-sensory experience, combining scent prompts which reflect an entire meal, texture touch, tactile images, braille, and personalised voice prompts.

The product aims to help patients engage in a meaningful activity whilst promoting choice and independence. The product’s tremendous attention to detail allows family members to customise auditory stimulation to reflect their voices. It also provides real-life textures like that of orange peel to enable patients to connect with their choices.

“We’re tackling not only the challenge of malnutrition and dehydration but also communication barriers, food waste, and the issue of healthy eating. We’re helping both the planet and people.”

Alex Chikhani

Co-founder, Sensmart

 

The idea highlights how those who are proactive in finding groundbreaking solutions in the rare community can have impacts rippling across multiple industries and conditions. Alex describes how various fields have already taken an interest in the product – from the private and public healthcare sectors to tourism and hospitality.

Join them at Rarefest22 for an interactive multi-sensory showcase. The team has devised various engaging, fun activities accessible to all. Be prepared to have your senses warped! Learn more about their exhibit at RAREfest22. 

Book your ticket for RAREfest22

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Unique Feet Outdoors

Unique Feet Outdoors

by | Jun 13, 2022 | Community, External Blogs, Unique Feet

Rare diseases are complex, chronic disorders which normally affect multiple organ systems and are often life-threatening. 75% of these affect children and this places many challenges on both the child and family as they journey through life. These can range from financial strains, feelings of isolation, physical barriers, or a lack of suitable care. When faced with such uncertainties and added difficulties, being able to access and use time outdoors can be incredibly powerful both mentally and physically, particularly if you can build it into a strong community network.

While there are many disease specific charities providing valuable virtual support networks for those affected by the same condition, geographical barriers can make physical events much more challenging and make it hard to connect with people. Cambridge Rare Disease Network (CamRARE) attempts to create networks to improve the rare disease journey, forming a powerful regional voice to ensure their collective needs are met as well as providing direct support to families living with rare disease in Cambridgeshire.

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Jo Balfour is a founding member and Managing Director at CamRARE, who also founded the Unique Feet group. She got in touch with the Alpkit Foundation after support as they transitioned out of the long series of lockdowns. It was an incredibly important time in being able to get people back together who had been shielding for so long, looking to get the children enjoying the outdoors again and the benefits taking part in these activities brings.

“Our Unique Feet group are a wonderful wonderful mix of children aged 2-19 living with different rare diseases and facing challenges including those affecting physical, sensory, neurological and mental health. Some are wheelchair users, some are non verbal and whilst these things can be barrier to accessing activities, they’re determined to give things a go. It’s daunting and lonely living with something others don’t understand, where only 5% of the 8000 different rare conditions have a treatment, but together through UniqueFeetCam they have found their tribe, they’re resilient and give each other strength.”

Cambridge Rare Disease Network - Unique Feet Outdoors 8

Looking for support to provide free, accessible, inclusive activities for their group, the Alpkit Foundation was delighted to provide an award of £500. This allowed them to offer assisted horse-riding, nature-based and forest school activities. To get the children back into nature in a safe and responsible way appropriate for those who are extremely medically vulnerable and have been shielding for the best part of a year.

Formed initially as a small group of 4 children meeting regularly for dance practice, Unique Feet soon flourished and now offers a fun range of inclusive outdoor activities from cycling to climbing. It’s a welcoming space to meet for physical and mental wellbeing and friendship building and clearly demonstrates the strength in creating strong bonds across a scattered and isolated community. It has a real impact on the children making long lasting friendships, having that opportunity to be themselves knowing there is support around, whilst also offering important support for the parents and families too.

unique feet alpkit foundation
unique feet alpkit foundation

“There are 20 families involved with Unique Feet. 63 beneficiaries. 20 wonderful children who have a diagnosis of a rare disease or are as yet undiagnosed. We include siblings, who are often young carers, in the activities. Parents also benefit and have their own support network within the group.

These children all have a different rare condition and have different levels of physical and learning disability. Some are non-verbal, others have sensory impairments, several are wheelchair users and some have life limiting conditions. Most are affected in relation to learning and social and experience some medically induced anxiety and trauma which impacts mental health.”It was wonderful to hear back from Jo and to see how getting outdoors is having such a positive impact on their lives.“Over the last year we’ve spent time exploring local parks and gardens, we’ve been horse riding, cycling, climbing,  swimming and more. This summer we’re headed to an outdoor activity centre and trying skiing and sledging for the first time!! The sky’s the limit and we work with brilliant providers who ‘get’ and do accessibility well so all our kids can join in”

Now that sounds pretty amazing. Look here for more about the incredible work of the Cambridge Rare Disease Network. 

Report Launch Feb 2022: Improving transitions to adult care for young people living with a rare disease

Report Launch Feb 2022: Improving transitions to adult care for young people living with a rare disease

by | Mar 22, 2022 | Collaboration, Community, Patient experience, Patient Groups, Policy

Costello Medical, Cambridge Rare Disease Network and Beacon launched a new report in March 2022 exploring the transitions process for young people living with rare conditions.

In recent years, advances in the diagnosis and treatment of rare diseases have led to improved life expectancy and quality of life for many patients. Consequently, children with complex and chronic rare diseases, who previously may not have survived past infancy, are now expected to live well into adulthood. The increasing number of patients transitioning from paediatric to adult care has placed growing pressure on healthcare systems to develop age-appropriate services that ensure continuity of quality care.

Characterising Key Challenges 

While improving transition pathways is an area of increasing focus, the rare diseases community continues to face substantial challenges when it comes to transitioning from paediatric to adult services. As such, there is a need to identify and characterise key challenges, as well as potential solutions, in order to inform further policy change and improve the transition processes for patients with rare diseases.

In response to this need, Costello Medical in collaboration with Cambridge Rare Disease Network [CamRARE] and Beacon held a series of focus groups throughout 2021 and a round table discussion on 15th October 2021 comprising of healthcare professionals, patients and caregivers, patient advocates and policy experts.  This diverse group shared their insights and experiences of transition services at different hospitals in Cambridgeshire and surrounding regions. The report, titled ‘Improving transition from paediatric to adult care for young people living with a rare disease’ recently published, discusses the current challenges associated with the transition of young adults with rare diseases into adult healthcare services, we well as identifying potential solutions and clear recommendations for action.

In the UK Rare Diseases Framework published Jan ‘21, it is recognised that we must address “the challenges in ensuring continuity of care across paediatric and adult services” to reduce the burden of care on patients and their families.  Transition has been described as “the purposeful and planned movement of adolescents and young adults with chronic physical and medical conditions from child-centred to adult orientated healthcare systems”. But were their experiences planned & purposeful? Within the report, young people living with #RareDiseases share their lived experiences and tell us what was done well, what could be done differently and how the process could be better.

Some of the key challenges outlined were the definition of transition, a lack of coordinated care, insufficient transparency and communication, the timing of transition, changing roles of parents, limited consideration for wellbeing, a fear of moving to adult care, and lack of age-appropriate care.

“Despite attempts to initiate conversations about transition as a teenager, my transfer into adult care came about abruptly, when I was admitted to the A&E department as a young adult. This was shortly after my primary paediatric doctor retired.” Katie also admitted, “I still don’t know who I’m really supposed to go to for what issue.”

Katie Callaghan

Founder , Cards for Bravery & young adult living with a rare condition

Rare-Diseases-Paediatric-to-Adult-Care-Transition_Roundtable-Report_1

Solving the Problem

What was most exciting and filled us with hope for a better future was the solution focussed discussion which took place next.   We heard of great practice in action at Colchester NHS where they adopt the #ReadySteadyGo transitions programme and have a Youth Worker who supports holistically, helping young people share experiences and plan ahead in an age appropriate, engaging way.

“Encouraging young people to share their experiences with their doctors can be powerful, and have a bigger impact.”

Rachel Fletcher

Hospital Youth Worker, Colchester Hospital

We were also impressed by the Teenage and Young Adult (TYA) ward at Addenbrooke’s Cambridge University Hospital which offers space for patients aged 14 to 24 for treatment of cancer. Young people helped with its design to create a less daunting stepping-stone in transition from paediatric to adult wards. The ward provides a focal point for young adult care, bringing together a multidisciplinary team (MDT) of clinicians, youth workers, social workers and mental health support workers. This MDT structure is important in determining the right time to initiate transition for each individual, based on factors such as developmental age and family structures. Everyone who works in the ward engages with the young adults and communicates with them about their future aspirations and goals, rather than just their illness. This environment has been invaluable in providing patients and their families with the necessary support throughout the transition from paediatric to adult care.

Based on the solutions discussed as part of the focus groups, a set of four key recommendations were compiled and it is hoped that they will help to improve the transition from paediatric to adult care for young people living with rare diseases in the Cambridgeshire region and beyond.

You can find the full report here. Please take time to read, digest and share so that together we can get transitions right for young people living with rare conditions.

transition to adult care summary of recommendations

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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.

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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.”

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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.”

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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. 

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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. 

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