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Cards for Bravery: Spreading Joy and Hope One Card at a Time

Cards for Bravery: Spreading Joy and Hope One Card at a Time

by | Nov 24, 2024 | Collaboration, RAREfest, Uncategorized

Imagine being a child, lying in a hospital bed for days, weeks, or even months. The outside world moves on, but time stands still for you. You’re isolated, missing out on school, friends, and the simple joys of childhood. In this lonely environment, where every day blends into the next, a small gesture can make all the difference—a gesture like receiving a handmade card that brings a moment of light into the darkness.

This is the heartwarming story of Cards for Bravery, a charity founded by the incredible Katie Callaghan. Despite living with several debilitating chronic illnesses, including a connective tissue disorder called Ehlers-Danlos Syndrome (EDS), Katie has dedicated herself to bringing joy to other hospitalised and seriously ill children through handmade cards filled with messages of hope, strength, and encouragement.

Katie sat with glasses and mid length blonde hair in a black shirt

The Birth of an Idea: From Hospital Bed to Helping Hand

Katie’s journey with chronic illness began early in life. EDS and other conditions have had a profound impact on her daily life, causing symptoms like frequent joint dislocations, chronic pain, and severe digestive issues that require her to receive nutrition through a line into her bloodstream. Despite these challenges, Katie has always maintained a positive outlook and a deep desire to help others.

The idea for Cards for Bravery was born in 2015, during a four-month hospital stay when Katie was just 13. One day, as she lay in her hospital bed feeling down, a friend sent her a card. It was a simple gesture, but it brought a smile to her face and lifted her spirits. This small act of kindness sparked an idea in Katie. She realised how powerful a positive message could be for someone in a similar situation. With the encouragement of the hospital’s head play specialist, Katie started creating handmade cards for other hospitalised children, hoping to bring them the same joy and comfort she had experienced.

From that moment, Katie embarked on a mission to spread positivity and support to seriously ill children. What began with a few handmade cards in one hospital has grown into a nationwide charity, touching the lives of thousands.

“When I spent many years in hospital as a young person, hearing a message like ‘get well soon’, though well-intentioned, brought up some difficult feelings. My condition is chronic, and there aren’t treatments available, meaning I won’t get well soon. To receive a message that didn’t focus on my medical situation, applauded my strength and resilience, or showed love was uplifting amongst all the heaviness.”

Katie Callaghan

Founder, Cards for Bravery

Katie at 13 years old with her hair in a braid sat in hospital holding 3 colourful cards

Growing Impact: A Message of Strength and Love

Since its humble beginnings, Cards for Bravery has expanded significantly. The charity now works with over 25 hospitals across the UK and has distributed more than 30,000 cards to hospitalised children and young people. Each card is lovingly crafted and filled with messages beyond the typical “get well soon.” Katie knows firsthand that for many of these children, “getting well” isn’t feasible due to the chronic nature of their conditions. Instead, the cards celebrate their strength, resilience, and the fact that they are not alone.

The messages in the cards are designed to uplift and inspire. They might say things like “You’re so brave,” “Sending hugs,” or “You’re amazing!” These affirmations remind the children that someone is thinking of them, acknowledging their courage and perseverance. Some cards are themed around fun topics, like the popular dinosaur card “You are roar-some.” Others feature figures like Taylor Swift or major events like the Olympics, adding a touch of creativity and personalisation that resonates with the children.

Katie’s vision has always been about more than just cards. Recognising the importance of holistic support for hospitalised children, Cards for Bravery has also started distributing Activity Packs and Bravery Packages. These packs are designed to provide entertainment and distraction during long hospital stays, helping to alleviate boredom and anxiety. The charity works closely with hospital play specialists to ensure that these packs meet the needs of the children they serve, making their time in the hospital more bearable.

A brighly coloured card with a drawing of a green dinosaur that says "you're roarsome"

A Team Effort: Expanding the Reach

As Cards for Bravery has grown, so has the team behind it. Volunteers with their own touching stories of chronic illness have joined Katie in her mission, bringing their unique perspectives and experiences. One such volunteer is Chelsea Wong, who joined the team in 2021. Chelsea’s connection to the charity’s mission is deeply personal—she lives with Lupus, an autoimmune disease that also required her to spend time in the hospital as a child. Chelsea recalls receiving a card from her brother when she was 11, signed by all her teachers and classmates. Chelsea remembers, “It made me smile. It was immensely uplifting because it reminded me that people thought of me and I wasn’t so alone.”

Chelsea’s story is just one example of how Cards for Bravery resonates with many people, both those who receive and create the cards. The collective understanding and mutual support within the team make the charity’s work possible. Together, they continue to make a difference in the lives of hospitalised children, one card at a time.

A photo of the cards for bravery team together at the Diversity awards

Spread Joy, One Card at a Time at Rarefest24

The future looks bright for Cards for Bravery. The charity constantly explores new ways to support hospitalised children and their families. Cards for Bravery is more than just a charity; it’s a movement of kindness and compassion, born from one girl’s desire to help others through her own challenges. Katie’s story is a testament to the power of small gestures and their incredible impact on someone’s life. Through her work, Katie has shown that even in the face of adversity, we all can bring light into someone else’s world.

At Rarefest24, visitors can create handmade cards for young people battling rare diseases. This hands-on activity will not only spread joy to those who receive the cards but also raise awareness about the challenges faced by individuals with rare conditions. It’s a chance for the wider community to get involved, making a tangible difference in the lives of others.

Katie and the team invite you to, “Join us in crafting handmade cards filled with messages of hope and strength dedicated to rare disease warriors. Your creativity will brighten the lives of those living with rare diseases.”

Book your ticket for RAREfest24

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

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

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

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

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

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

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

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

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

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

Gavin Mcstay

Researcher

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

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

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

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

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

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

Lele Saa

Artist

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

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

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

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

Rarefest24: An Unmissable Exhibition of Art and Science

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

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

Book your ticket for RAREfest24

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From Pastry to Chocolate: How Stuart Hann Turned Blindness into a Sweet Success Story

From Pastry to Chocolate: How Stuart Hann Turned Blindness into a Sweet Success Story

by | Oct 16, 2024 | Raising awareness, RAREfest

In the heart of the English Lake District, where rolling hills meet tranquil waters, there’s a story that’s as sweet and rich as the finest chocolate you’ll ever taste. It’s the story of Stuart Hann—an award-winning pastry chef turned pioneering chocolatier—whose journey from kitchen wizardry to becoming the world’s first registered blind chocolatier is nothing short of astounding.

Diagnosed with the rare eye condition Leber’s Hereditary Optic Neuropathy (LHON) in 2015, Stuart went from having functional vision to being registered as legally blind in a matter of months. Leber’s is a genetic disorder that leads to the loss of central vision, leaving individuals with only peripheral sight. It’s rare – affecting about 1,500 people in the UK, and left Stuart unable to drive, read, or recognise faces.

Stuart’s journey is as unique and handcrafted as his extraordinary creations. With the support of his family, friends, and his own unshakable determination, he decided not only to continue his culinary career but to embark on a new adventure: chocolate. And so, “The Blind Chocolatier” was born—a name that carries a nod to his visual impairment, but more importantly, a testament to his talent and innovation.

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Overcoming Challenges, One Chocolate at a Time

Stuart was working as a pastry chef when his vision began deteriorating. His hands were his tools, and precision was essential. After the diagnosis, his employers made decisions for him, assuming he couldn’t continue in his beloved role. Rather than asking Stuart what support he needed, they removed him from the pastry kitchen, placing him in a less creative role as prep chef and on the door. It was a frustrating period for Stuart, who knew that his blindness didn’t diminish his abilities or creative passion.

Stuart chose to strike out on his own. He had always dreamed of running his own chocolate shop, and the time had come to turn that dream into reality. He returned to his craft, determined to adapt to his new reality. With a little ingenuity and a lot of stubbornness, he taught himself to work around his limited vision. Soon, he was back in the kitchen, dreaming up a business that would not only reignite his love for making desserts but push the boundaries of what people thought was possible for a visually impaired chef.

With the fitting name “The Blind Chocolatier”, Stuart embraced his new identity, setting up shop in his hometown of Staveley. His chocolates are anything but ordinary confections – shiny, bright, and brimming with innovation. Stuart often jokes that “his chocolates sell out faster than he can make them”, which is a testament to his remarkable skill and ingenuity. 

Using colourful cocoa butter, he crafts eye-popping designs. Each piece is handmade with incredible attention to detail, using innovative techniques like repurposing lip gloss brushes for the finer details, to ensure every product is as beautiful as it is delicious.

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Creative Confections and Chocolate Adventures

Since opening “The Blind Chocolatier” in 2019, Stuart’s business has thrived beyond his expectations. What sets Stuart’s chocolates apart isn’t just their flavour – although his white chocolate, orange, and maple combo will have you hooked – it’s the sense of playfulness and creativity behind each piece. From chocolate replicas of Saturn suspended on fishing wire to a chocolate model of a firetruck sculpted entirely from chocolate, his creations are as fun as they are delicious. His chocolates have wowed locals and visitors alike, with repeat customers returning for more.

But Stuart’s story is about more than just business success—it’s about changing perceptions. As someone registered blind, Stuart is often surprised when people realise he is still able to see in limited ways.

With LHON, the central vision is affected, but many people retain peripheral vision, which allows them to navigate the world in their own unique way. Stuart uses technology, such as his phone’s zoom function, to read ingredient labels, and he’s meticulous about keeping his workspace organised to avoid mistakes. Stuart has spoken at conferences and is keen to educate others on what life with LHON is like. He’s living proof that visual impairment doesn’t mean the end of independence or ambition.

“People are often surprised that blind people can still see a bit. They don’t understand that blindness doesn’t always mean total darkness. Many people who are registered blind have some vision, with only 5-10% having a complete loss of vision”.

Stuart Hann

The Blind Chocolatier

Sweet Success – But What’s Next?

Though Stuart is the sole operator of his business at the moment, he has big plans for the future. Stuart is always dreaming up new ideas. He’s working on expanding his product line, with exciting new flavours.

“Some time is spent on product testing – trying out new flavours and creations. I have a trusted panel of product testers: my mates down the pub. I can always rely on them to be honest, and that’s exactly what I need. Once, I gave a friend a new vegan flavour to try, and she told me it didn’t taste great so I went back to the drawing board to create something better.”

Currently, Stuart manages all aspects of his business himself, from creating the chocolates to running the tills. His mother, friends, and a tight-knit support network help with deliveries, and Stuart is in the process of gaining access to work assistance for admin tasks. But whether it’s manning market stalls or developing new Christmas-themed chocolates (his dark chocolate tipsy tipple is a must-try!), Stuart’s passion and drive never waver.

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A Taste of Stuart’s World

Now, the icing on the cake: Stuart will be showcasing his talents at RAREfest24, and trust us, you won’t want to miss it. Attendees get a peek into Stuart’s inspiring journey through a film about his life. For RAREfest24’s VIP guests, Stuart is whipping up some mouth-watering Christmas flavours, including his signature dark chocolate tipsy tipple and dreamy milk chocolate with spiced caramel.

So, if you’re craving something sweet this festive season, head down to RAREfest24. You’ll leave with a smile, a new appreciation for what’s possible, and maybe even a box of Hann-made chocolates (if they haven’t sold out yet). 

If you want to enjoy some of Stuart’s creations for yourself, you can always visit his website to place an order for the holiday season. Whether it’s a gift for a loved one or a treat for yourself, every purchase supports a tenacious entrepreneur who refuses to let blindness stand in the way of living his dream.

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Unlocking the Powerhouse of the Cell: MRC MBU Brings Mitochondria to Life at RAREfest24

Unlocking the Powerhouse of the Cell: MRC MBU Brings Mitochondria to Life at RAREfest24

by | Oct 15, 2024 | Education, Raising awareness, RAREfest

Prepare to have your minds energised and curiosity sparked at this year’s RAREfest24. The Medical Research Council—Mitochondrial Biology Unit (MRC MBU) from the University of Cambridge will take you on a journey into the heart of your cells with innovative games, hands-on learning, and a fun introduction to the world of mitochondria!

But wait – what exactly are mitochondria, and why should you care about them?

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Mitochondria: The Cells Power Stations

Think of mitochondria as the power plants inside each of your cells. They’re small, but don’t let their size fool you. They’re responsible for producing ATP, the energy currency that powers just about every function your body performs. From moving your muscles to keeping your heart beating, ATP is the fuel, and mitochondria are the factories.

Mitochondria are unique compared to other parts of the cell. They have their own DNA (which is only inherited from your mum!) and can even change shape, divide, or fuse together depending on what your body needs at the time. Plus, they’re not just one-trick ponies. These fascinating organelles are involved in many vital processes, from regulating cell death to helping with calcium storage.

If you’ve ever heard of mitochondrial diseases, you’ll know that when these tiny powerhouses go wrong, it can lead to serious problems. These disorders can affect multiple organs and lead to symptoms as varied as muscle weakness, neurodegenerative conditions, and even heart disease. Mitochondrial mutations give rise to a range of rare conditions, including Pearson Syndrome, and several ultra-rare disorders, some of which remain unnamed.

So, who’s leading the charge in studying mitochondria and finding ways to address these diseases? Enter the MRC Mitochondrial Biology Unit!

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Meet the MRC Mitochondrial Biology Unit

The MRC MBU is a world-leading research institute nestled in the heart of Cambridge’s Biomedical Campus. The Unit is dedicated to uncovering the mysteries of mitochondria, understanding how they work, how they sometimes fail, and how we might develop therapies for diseases linked to their malfunction.

Advances in genomics now allow for better analysis of mitochondrial mutations, but research isn’t without its challenges. The competitive nature of research and the pressure to secure funding mean scientists are constantly pushing to demonstrate the novelty and significance of their findings, while many ultra-rare mutations are poorly understood in comparison with their more historically researched counterparts.

“We’re at the forefront of understanding the role of mitochondria in human diseases, from rare disorders to common conditions like heart disease, neurodegeneration and cancer,” explains Dr Alex Whitworth, one of the leading scientists at the Unit. “The most exciting thing about our current research is that we’re discovering new ways mitochondria are involved in health and disease every day. This could open the door to entirely new treatments.”

The MRC MBU isn’t just about groundbreaking research. It’s also committed to sharing its discoveries with the public through an active public engagement programme. And what better way to engage than with games?

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Adventure in the Cell: Games That Bring Mitochondria to Life

MRC MBU’s innovative approach to science communication has taken a playful turn with its suite of mitochondria-themed games. Designed to educate and excite, these games offer a hands-on way to understand mitochondrial biology.

“We believe that science should be accessible to everyone, no matter your age or background,” says Penny Peck, MRC MBU’s Communications Manager. “Games are an excellent way to bring people into the complex world of mitochondria in a fun and engaging way. At Rarefest24, we’ll be showcasing two of our most popular games: ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA.’” The games were thought up by members of the MBU, then designed and built by SciAnsell, headed by Dave Ansell, known for bringing science to life through interactive designs.

Let’s dive into these games and see how they bring science to life.

 “We believe that science should be accessible to everyone, no matter your age or background. Games are an excellent way to bring people into the complex world of mitochondria in a fun and engaging way. At Rarefest24, we’ll be showcasing two of our most popular games: ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA.’”
Penny Peck

MRC-MBU Communications Manager

Generating ATP Pinball: Powering Up with Every Play

The ‘Generating ATP Pinball’ game is a fast-paced, interactive way to understand how mitochondria create energy. Picture this: you’re playing pinball, but instead of hitting random targets, you’re guiding a ball (representing an electron) through a mitochondrion! Your goal? To help the electron move through different protein complexes (imagine them as pinball bumpers) to generate as much ATP as possible.

The game cleverly mimics the process of the electron transfer chain, a series of steps that mitochondria use to convert food into energy. As you guide the electron, it must pass through Complexes I or II, flow through Complex III, and finally reach Complex IV to produce that all-important ATP—a real light-bulb moment. The more successful passes you make, the more energy you generate—and the more fun you have!

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Destroying Mutant Mitochondrial DNA: A Hands on Learning Experience

Another must-try at Rarefest24 is the ‘Destroying Mutant Mitochondrial DNA’ game. This game is all about understanding how mitochondrial DNA mutations can lead to disease, but don’t worry—you won’t need a biology degree to play! 

Players will find the mutant mitochondrial DNA floating around in the mitochondrion and throw the faulty DNA into a mutant mtDNA dustbin for disposal. The game is not only fun but also educational, teaching players about how mutations in mitochondrial DNA can lead to dysfunction and disease.

What’s even more fantastic is that this game is fully accessible to people with visual impairments. The MBU incorporated textured mutant DNA pieces so that they could be identified by touch, making it an inclusive experience for everyone.

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Catch MRC-MBU at RAREfest24

Now that you’ve had a sneak peek into the world of mitochondria and the fun games created by MRC MBU, you won’t want to miss their arcade of an exhibit at Rarefest24. This one-of-a-kind science festival is the perfect opportunity to explore the latest research on rare diseases while having a blast.

Attendees of Rarefest22 will remember the MRC MBU’s MitoTrumps cards—a fun, educational card game, designed by PhD student Alannah King, based on mitochondrial proteins! At this year’s booth, you’ll be able to try your hand at ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA,’ meet real scientists, and learn how they’re unlocking the secrets of the mitochondrion to develop new therapies for mitochondrial diseases. 

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RAREfest24 isn’t just for science enthusiasts; it’s for anyone curious about how science and innovation are making a difference in the world of rare diseases. Whether you’re a student, a parent, or just someone who loves a good game, MRC MBU’s exhibit will inspire and entertain you.

So, are you ready to power up and destroy some mutants? Join us at Rarefest24 and see how the cutting-edge research at the MRC Mitochondrial Biology Unit is making a world of difference. We can’t wait to see you there!

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The Power of Collaboration: Beyond Blood

The Power of Collaboration: Beyond Blood

by | Sep 30, 2024 | Collaboration, RAREfest, Technology

A Budding Entrepreneur, an Engaged Rare Disease Community, and a Transformative New Device.

Have you or someone you care for with a rare condition needed blood tests recently? Now, imagine a world where checking your health is as simple as making a cup of tea—no hospital visits, no waiting rooms, and no needles. This is the future Beyond Blood Diagnostics is creating.

 

Founded in 2022 by Manfredi San Germano, Beyond Blood Diagnostics is developing a revolutionary at-home blood-testing device that could redefine healthcare, especially for those living with chronic and rare conditions. This device promises to be portable, easy to use, pain-free, and quick, delivering reliable blood test results in less than 15 minutes—all from a simple finger prick. The team’s patented technology harnesses cutting-edge AI and microfluidic chips, allowing users to get a full blood count (FBC) at home, providing insights that could diagnose infections, neutropenia, anaemia, and more.

Beyond Blood’s journey from an innovative idea to a promising tech solution is one powered by community engagement, particularly with the rare disease community. The rare disease community’s role in shaping and guiding this product has been instrumental. And now, this exciting partnership is headed to RAREfest24, where Beyond Blood will showcase its prototype—a true testament to the power of collaboration and consultation.

Beyond Blood: A Vision to Revolutionise At-Home Blood Testing

Manfredi San Germano is no stranger to life sciences innovation. With a background in commercialising genomic tests and a PhD in Biomedical Engineering from Imperial College London, Manfredi’s expertise in microfluidic applications in medicine set the stage for Beyond Blood’s inception. His belief? The next frontier of patient care lies in empowering people to monitor their health at home.

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Beyond Blood’s device is designed to allow patients to conduct full blood counts—a critical test for monitoring a range of health conditions—without the need for labs. This innovation promises convenience, cost savings, and, above all, control over one’s health. And it’s not just for the general population; Beyond Blood is particularly attuned to the needs of the rare disease community, who often face unique and complex challenges in healthcare.
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Why the Rare Disease Community?

Over 3.5 million people worldwide live with rare diseases, with around 40% experiencing haematological co-morbidities. Blood health plays a crucial role in diagnosing and managing rare conditions, but frequent trips to the lab for tests can add yet another burden to an already difficult healthcare journey. This presented an opportunity for Manfredi: if blood tells us so much about a person’s health, offering a portable, user-friendly blood test could provide life-changing benefits to people with rare diseases.

Beyond Blood’s journey into the rare disease space started when they joined the Cambridge Rare Disease Network’s RAREsummit23. It was here that they participated in the live Dragon’s Den-style Tech Solution Pitching Competition. Competing against other innovators, Beyond Blood won the audience vote thanks to the enthusiastic support from the rare disease community. This victory sparked a vital collaboration between the two, shaping the company’s understanding of how their technology could best serve this underserved population.

 “For patients, especially those with chronic or rare diseases, attending numerous healthcare appointments is stressful and time-consuming. They’re their best advocates, and they know their health better than anyone. So why not give them the tools to monitor it themselves?”
Manfredi San Germano

Founder, Beyond Blood Diagnostics

Co-designing the Future with the Rare Disease Community

Since RAREsummit23, Beyond Blood has worked closely with the rare disease community to refine its technology. With help from CamRARE, they conducted surveys, gathering insights directly from those living with rare conditions. This feedback has been invaluable in shaping their product, ensuring that it meets the unique needs of the people who will benefit from it most.
One of the rare disease advocates who contributed to Beyond Blood’s journey is Max Fisher, who lives with Ehlers-Danlos Syndrome and other complex health conditions. Max visited Beyond Blood’s London offices to share their lived experience, providing the team with a first-hand understanding of what life with a rare disease entails.

“It was immensely valuable for the team to hear Max’s story,” says Manfredi. “We gained not just an understanding of the challenges but also the resilience and innovation displayed by those living with rare diseases. Their drive to engage with us and help us improve our technology has been incredible.”

 

 “I had a great time visiting Beyond Blood in their lab. Seeing people on our side as rare disease patients and actively listening to our concerns was lovely. They were very keen to listen to my experience as a person with a rare disease, and how I could see their product being useful. As a fellow scientist, I also enjoyed seeing their lab setup and process behind the scenes. They’re on a great path and I can’t wait to see them progress as time passes.
Max Fisher, RSci

This direct involvement from the community has shaped the device and how Beyond Blood envisions integrating its technology into healthcare. A key takeaway from their consultations was the need for better communication between patients and clinicians, which often causes frustration for rare disease patients. Beyond Blood is considering this feedback as it develops how its product will connect with healthcare services, aiming to bridge this communication gap.

The collection of works provides an innovative means to help people outside the rare disease community understand more about what life can be like with a rare disease. There will also be an exciting opportunity to come and have a go!

Looking Ahead: Expanding the Scope of Innovation

Beyond Blood’s original focus was on providing a full blood count at home, but they’ve since expanded their vision. Their device now offers tests that provide more detailed insights into blood health, including monocyte and cell distribution counts. They’re even working towards integrating a C-reactive protein (CRP) test, which can offer valuable information about inflammation and infection.

To achieve this, Beyond Blood is collaborating with global companies working on similar microfluidic technologies, pushing the boundaries of what their device can do. These advances will benefit rare disease patients and have broader applications for viral infections and other health concerns. Their work has been recently featured on the Imperial College website, and they have received funding from the Canadian National Research Council for a joint project with the NRC’s Nanotechnology Research Centre to develop a circulating tumour cell isolation and detection point of care device.

And this is just the beginning. Beyond Blood’s ultimate dream is to develop a wearable or implantable device that continuously monitors a patient’s health without any intervention. This could be a game-changer for patients living with conditions such as Alzheimer’s, parents, or anyone who struggles with managing their healthcare.

“Working with the rare disease community has been eye-opening,” Manfredi reflects. “We’re just scratching the surface of the complexities involved, but the passion and knowledge of the people we’ve spoken to have been crucial in guiding our work.”

Cambridge Rare Disease Network - The Power of Collaboration: Beyond Blood 18

See Beyond Blood in Action at RAREfest24

Beyond Blood’s future is bright, and they’re eager to share their progress with the world. At RAREfest24, they’ll showcase their exciting prototype to the rare disease community. Attendees will have the chance to see the device in action and engage with the team about the next steps in their journey. Beyond Blood will also offer a sneak peek at Version 2 of their device, which is currently in development.

Beyond Blood is more than just a promising tech company—it’s a shining example of what can happen when innovators collaborate with the people they aim to serve. By working hand-in-hand with the rare disease community, they’ve created a product that has the potential to transform healthcare for millions of people. And this is only the start of their journey.

Be sure to stop by their booth at RAREfest24 and witness the future of healthcare in action. Beyond Blood’s story is one of innovation, collaboration, and hope—a journey that they’re excited to continue with the rare disease community at their side.

Book your ticket for RAREfest24

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Science as Solace: Daval’s Cosmic Quest and Life with a Rare Condition

Science as Solace: Daval’s Cosmic Quest and Life with a Rare Condition

by | Sep 17, 2024 | Collaboration, RAREfest

Imagine a night sky brimming with stars, each a potential host to planets beyond our solar system. They are mysterious, diverse, and endlessly fascinating. They remind us that the universe is vast, filled with countless possibilities and unknown wonders.

For Daval, a passionate scientist living with the rare condition Epidermolysis Bullosa Simplex (EBS), this universe offers intellectual excitement and a unique form of solace. His story is one of resilience, curiosity, and a profound love for learning, especially in the awe-inspiring field of planetary science. This year, at Rarefest24, Daval will share his journey and the wonders of the cosmos with an audience eager to explore the parallels between the mysteries of space and the intricacies of rare diseases.

 

Cambridge Rare Disease Network - Science as Solace: Daval’s Cosmic Quest and Life with a Rare Condition 19

The Infinite Wonders of Planetary Science

Planetary science, a branch of physics, delves into the secrets of planets, moons, and other celestial bodies. It encompasses the study of planetary interiors, atmospheres, and, notably, exoplanets—worlds orbiting stars other than our sun. When an exoplanet transits—or passes in front of a star—this variation in brightness provides crucial information about both the star and the planet. It’s a puzzle of light and shadow that Daval is dedicated to unravelling.

“As a planet passes in front of the star, there’s a dip in the light, like when our moon passes in front of the sun, we have an eclipse. The dip in light can be miniscule, but our sensors can pick it up if it’s a larger planet—this tells us we might be seeing an exoplanet.”

Earlier this year, Daval was part of a team that made an extraordinary discovery—a brand-new planetary system, TOI-4633. This system boasts not just one but two planets: one resembling a mini-Neptune and the other on a different orbit. To make this discovery even more thrilling, these planets orbit not one but two stars. This discovery, published in a scientific paper, is a testament to Daval’s dedication and expertise in his field.

But Daval’s fascination with space isn’t just academic; it’s deeply personal. Like many of us, he fell in love with space as a child, captivated by the idea that every planetary body has its own unique traits and personality. No two planets are the same, just as no two people are the same. And just as countless other worlds are out there waiting to be discovered.

Cambridge Rare Disease Network - Science as Solace: Daval’s Cosmic Quest and Life with a Rare Condition 20

A Journey Marked by Challenges and Discoveries

From an early age, Daval required extensive medical attention. Born in Portugal, he spent three months in the hospital after birth, with doctors unsure how to treat him. His family soon moved to India, where they sought help from many specialists, but it wasn’t until they moved to the UK that Daval received a formal diagnosis at Great Ormond Street Hospital. He was diagnosed with Epidermolysis Bullosa Simplex (EBS), a rare genetic skin condition. Even then, the prognosis was sobering—there were no treatment options available, only ways to manage the symptoms with creams and bandages.

EBS affects only about 5,000 people in the UK, with only ten people estimated to live with Daval’s specific gene mutation in the KRT14 gene. The condition causes painful blisters on the skin due to heat and friction. For Daval, this means living with significant chronic pain, difficulty walking, and challenges using his hands.

Despite these challenges, Daval’s passion for learning and science never wavered. His mind became his sanctuary, where the universe’s wonders could flourish. Today, he is pursuing a master’s degree, with his thesis focused on gravity darkening in exoplanet transits. His ultimate goal? A PhD that will allow him to delve even deeper into the mysteries of space.

 “Sometimes we get caught up in these definitions, and we forget to do the science of the planet, person, or disease itself.”
Daval Amratlal

Planetary Scientist

The Curious Parallels between Planetary Science and Rare Conditions

Daval’s keen eye for science has observed intriguing parallels between studying exoplanets and rare diseases. Just as every exoplanet is unique—some are super-Earths, while others are gas giants or rocky worlds—rare diseases are incredibly diverse, with over 11,000 conditions affecting millions worldwide. Each rare disease, like each exoplanet, has its own distinct challenges and characteristics.

However, neither exoplanets nor rare diseases are as rare as they seem. While we’ve discovered just over 5,500 exoplanets, they are actually common, with billions scattered across the vastness of the universe. Similarly, 1 in 16 people live with a rare condition—individually rare but collectively common.

Detecting exoplanets using the transit method is similar to diagnosing rare diseases. Both processes require piecing together fragmented clues from various analyses, like phenotypic and genetic tests in medical diagnosis. The transit method can determine a planet’s size but not its mass, so a planet could be as massive as 53 Jupiters without us knowing. Similarly, larger planets that orbit very close to their host stars—like hot Jupiters—are easier to detect. This bias mirrors how common conditions are often diagnosed before rare diseases, leading to potential misdiagnoses. In both fields, biases and the risk of false positives make achieving precise and accurate understanding a significant challenge.

Classification also parallels between these fields. Consider Pluto, once the ninth planet in our solar system, now reclassified as a dwarf planet. Similarly, rare diseases can undergo reclassification, leaving patients and researchers navigating uncertainty. What constitutes rare? Ultimately, everything exists on a continuum. Daval highlights that, despite these challenges, observational science should always come first—whether we’re studying a planet, a person, or a disease.

“Sometimes we get caught up in these definitions, and we forget to do the science of the planet, person, or disease itself.”

Cambridge Rare Disease Network - Science as Solace: Daval’s Cosmic Quest and Life with a Rare Condition 21

Finding Solace and Sharing it with the World

Daval’s journey is not just one of scientific discovery but also personal resilience. He finds solace in the world of ideas and the far-off wonders of the universe. But he doesn’t let his condition define him or limit his ambitions. In addition to his academic pursuits, Daval enjoys go-karting with his university society and has even participated in the British Universities Karting Championships. His message to others living with rare conditions is simple yet powerful:

“Don’t let it stop you.”

Daval is also a passionate advocate for better support and resources for those living with EB. To pursue this mission, he has worked with Medics for Rare Diseases (M4RD) as a patient ambassador. M4RD will also join Rarefest24 as an exhibitor, showcasing their fantastic recent work on rare disease red flags. Daval has also served as a patient ambassador, particularly with DEBRA, a charity supporting those with EB. One of DEBRA’s current goals is to make resources and help more accessible to patients with EB.

Join Daval at RAREfest24

At Rarefest24, on the evening of Friday 22nd of November, Daval will host an exciting Q&A session about space, planets, and his work in planetary science. This event is not just an opportunity to learn about the fascinating world of exoplanets but also a chance to explore the unusual parallels between these distant worlds and the rare conditions that affect so many people. If you’ve ever wondered what it’s like to study the mysteries of the universe—or how those mysteries can reflect life’s challenges on Earth—Daval’s session is one you won’t want to miss.

As Daval says,

“The universe is full of wonders, and so are we.”

Don’t miss this stellar opportunity to explore the cosmos and the human spirit with someone who embodies the best of both worlds. After all, when it comes to the mysteries of space and rare diseases, there’s always more to discover.

Book your ticket for RAREfest24

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

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

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

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

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

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

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

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

Cambridge Rare Disease Network - The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity 22
In 2017, he met with a specialist who delivered life-altering news. Overwhelmed, he contacted Parkinson’s UK and Spotlight YOPD (a charity supporting those with Young-Onset Parkinson’s) seeking guidance. The advisors offered reassurance, explaining that the disease progresses slowly and that thoughts of the end shouldn’t consume him. While this eased his mind to some degree, the reality of living with YOPD was far more complex. Unlike those diagnosed later in life, he faces the challenge of raising a child, managing his career, and maintaining a social life, all while navigating a serious health condition.

Phil Jerky: A Journey into Comedy

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

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

Comedian

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

Comedy as a Beacon of Awareness

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

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

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

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

Cambridge Rare Disease Network - The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity 23

Battling Toxic Positivity and the Double-edged Sword of Sympathy

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

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

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

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

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

The Unstoppable Force of Laughter

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

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

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Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22

Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22

by | Nov 16, 2022 | RAREfest, Genomics

The strategic mission of the MBU is to understand mitochondrial biology in health and disease, and to exploit this understanding to develop new therapies and improve human health.

Alex Whitworth is a Group Leader at the Medical Research Council Mitochondrial Biology Unit (MRC-MBU) and leads one of the 9 teams within it. Penny Peck is the Communications and Postgraduate Manager, supporting the postgraduate students and coordinating the programme of public engagement activities.

Financed largely by the Medical Research Council, Alex and his researchers focus on understanding the fundamental biology of mitochondria, a particular part of the cell, that sometimes go wrong and cause disease. As he explained:

“The emphasis of our research is mitochondria. Mitochondria are a particular part of the cell found in almost every cell of the body and best known for being the powerhouses of the cell – the cellular batteries. They are a real hub for metabolic processes that convert the food that we eat into actual useable energy within our bodies. So, directly or indirectly, they influence virtually every single process that goes on within our bodies. Because of this, problems with mitochondria often affect our most active tissues, such as the brain, our muscles and heart.”
Alex Whitworth

Group Leader

The unit’s role encompasses understanding many of the basic functions of mitochondria, and in particular investigating how this contributes to or directly causes a range of diseases. Therefore, the researchers are working on areas such as heart disease and stroke. Alex’s research is focussed on neurodegenerative diseases and typically the more common neurodegenerative diseases, such as Alzheimer’s and Parkinson’s.

A very special feature of mitochondria is that they have their own small genome,(DNA) which is susceptible to mutation. So, there are some very specific types of diseases which are caused by the mutation of the mitochondrial genome. While these tend to be relatively rare types of diseases, natural variations in the mitochondrial genome also influence a wide range of more common conditions.

Another interesting phenomenon of the mitochondrial genome is that it is transmitted exclusively through the maternal line, so you inherit all your mitochondria DNA from your mother. As opposed to half the copies of the nuclear DNA coming from mum and half from dad. This establishes an interesting clinical solution for mitochondrial diseases that show an unusual inheritance pattern. As Alex explains:

“Advances that have happened in the last few years are aimed at tackling some of these mitochondrial diseases, including one solution coined the ‘3-person baby’. As you have genetic contributions from mum and dad, for the majority of the genome, and mum only for the mitochondria genome, if there is a problem only with the mitochondria genome but the rest of the genome is perfectly fine, you could simply replace the mitochondrial genome with a good set. For example, using in vitro fertilisation, you can replace the mitochondria that are bad with mitochondria which are good from another maternal donor. This then means mum, dad and a third person contribute to the baby. Hence the name ’3-person baby’. In theory this should be able to cure a lot of these diseases. And excitingly the UK is one of the leading centres in the world that is pioneering this technology. ”

Alex and Penny are excited to bring a special game to RAREfest22 which enables them to talk about the research described above and allow people to better understand how mitochondria have their own genome, and explain how one of the therapeutic angles is to try and remove the bad mitochondria and the kinds of technology the research teams in their unit have been developing. As Penny explains:

At RAREfest we will have a number of specialist biology researchers on hand to help with our game and explain the science! We will have mitochondria looking like how they appear in our cells, along with ‘good’ mitochondrial DNA (green balls) mixed with ‘bad’ mitochondrial DNA (black balls), and the challenge will be to place all the bad in our mitochondrial DNA dustbin!

Both Alex and Penny wish to showcase that this is an exciting time for mitochondrial research and translational science. They both firmly believe that researchers are on the cusp of now being truly able to translate the research and technological developments into viable therapeutic approaches. And whilst there is still some way to go regarding safety and efficacy, it is about hope and knowing that they can make a real difference in the delivery of solutions in the foreseeable future.

So come and see Alex, Penny and their team at RAREFest22 – learn and have fun on the day!

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Rare Youth Revolution at RAREfest22

Rare Youth Revolution at RAREfest22

by | Nov 7, 2022 | Patient experience, RAREfest, Uncategorized

Chelsea Wong is the Youth Coordinator for Rare Youth Revolution (RYR). Rare Youth Revolution is a global news and opinion, digital magazine platform, dedicated to powering up the voices of the young people in the rare disease community. They aim to bring quality news, for young people, by young people.

They are part of, but different to, their main magazine, Rare Revolution which focusses on adults living with a rare condition. Rare Youth Revolution instead, focusses on young people living with a rare disease as that is an entirely different audience. Their aim is to amplify their voices and give them a safe space to feel heard. As Chelsea explains:

We want young people to feel supported and safe in telling their story and to know they are being heard and listened to. Rare Youth Revolution is about empowerment and inspiring open and authentic stories told by young people for young people.

Chelsea, in her role as Youth Coordinator and also living with a rare condition herself is well-placed to coordinate and support the wide range of opportunities for these young people. She can help them raise awareness about their specific condition in a range of formats from writing to video, art, and social media campaigns. Chelsea is delighted that one of their initiatives called Rare Talks provides an opportunity for people living with the same rare disease to discuss, through video, the surrounding issues of living with the same condition. It also gives them the chance to share similarities and differences of their lives, despite living with the same rare disease.

“I was trying to find that perfect balance for me, being able to express myself in a work environment, and work well whilst living with my condition. So, this seemed like the perfect fit, so I just went for it and here I am!”
Chelsea Wong

Youth co-ordinator

Exhibiting at RAREfest22

One of Chelsea’s first tasks was to sort out their presence at RAREfest22. She will be contributing in two ways. The first is a session called Rare Monologues, where the RYR team will work in collaboration with Medics4Rare Diseases. Four people from the RYR team will perform a short monologue speaking about difficult conversations. This includes medical gaslighting, trying to put your foot through the door, advocating for yourself in medical appointments and trying to be heard. All topics can be difficult to speak aloud and be incredibly overwhelming, especially for young people. This impactful session invites these young advocates to speak to the room and feel listened to.

RARE youth Revolution Experience

Secondly, Chelsea is bringing an interactive session as an exhibitor. Her stand will showcase the human body with numbers on it. Behind each number will be an audio of symptoms relating to that specific area. Plus, it provides further information of a lived experience by a young person about their actual condition rather than just the symptom itself. Chelsea explained the rationale:

I have tried really hard not just to make it educational, but also interactive and easy to follow. I also wanted to make sure it was very personal. When people listen to these audios, they will be listening to an actual person who is talking about their condition. I want the public to see the variety of rare conditions, but also how young people differ and go about their lives in a different way once they have adapted to those symptoms, since they have been diagnosed.

Come and see Chelsea and her Youth Team at RAREfest22 and see for yourself the issues that matter to young people living with a rare disease and how young people live positively with their condition!

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Finding a needle in a haystack

by | Nov 7, 2022 | RAREfest, Uncategorized

Dr Kate Downes is the Clinical Scientist Lead for the East Genomic Laboratory Hub. Genomic medicine is a rapidly growing and dynamic field, and we are increasingly finding
more answers to help us provide more results to patients and their families.

The East Genomic Laboratory Hub (GLH) provides genetic testing for patients in the East Midland and East Anglia regions for both rare disease and cancer as part of the NHS Genomic Medicine Service. As the Rare Disease Clinical Scientist Lead, Kate works across the three genetic laboratories within the region at Cambridge, Leicester and Nottingham. All three laboratories receive rare disease test orders from doctors and healthcare professionals for patients who have a suspected genetic disorder. Genetic testing may be performed in house, with technologists generating genetic data, bioinformatics teams analysing results and Clinical Scientist interpreting the genetic variants identified and generating clinical results reports. As Kate explains, for some specialist genetic tests, the East GLH sends DNA to one of the other six GLHs in England to perform genetic testing and the East GLH also receives DNA for testing for specialist testing performed at the Cambridge Genomics Laboratory. In this way, the seven GLHs work in partnership to offer comprehensive genomic testing for all NHS patients.

This is a thrilling time to be working in the world of genomics, as explained by Kate.

“We are using new technologies and we are introducing new technologies all the time to perform testing in patient samples to identify the cause of their rare disease and clinical symptoms. We are translating new techniques, tests and analysis methods alongside using the latest understanding of new genes and disorders. We can now use big databases of genetic data from population and patient cohorts generated across the world. These resources help the Clinical Scientists interpret a new genetic variant we have identified in a patient. The questions we ask is: has this genetic variant been seen before in another patient with similar clinical symptoms? If the answer is yes then it is likely that this genetic variant is the cause of the patient’s disorder.”

“Together the introduction of new technologies and analysis methods with increased data sharing across the world help is provide more and more genetic diagnosis to patients.”
Dr Kate Downes

Clinical Scientist Lead

Having been an academic scientist for most of her career, Kate decided to move into the NHS. Supported by colleagues at the University of Cambridge and the NHS Cambridge Genomics laboratory, she was trained and gained experience that enabled her to register as a Clinical Scientist. She has worked in the Cambridge Genomics Laboratory as a Clinical Scientist for three years now and has welcomed the opportunity to take on her current role as the East GLH Clinical Scientist lead.

Kate loves her job, working with a huge team of people who are enthusiastic and incredibly knowledgeable in lots of different areas, located across the East region.

 

Dr Kate Downes
Genomics Lab CUH Hospital

My day to day role is really varied. I get to speak with members of the East GLH team within the Cambridge, Nottingham and Leicester laboratories, I also take part in national discussions to improve and standardise genomic services and improve patient pathways. And why do I love doing that? The reason I am in this role is to provide the best possible service for patients and their families right now, but also importantly to bring in new technologies, processes and knowledge into the laboratory to improve testing strategies in the future.

Come and join Kate and the East GLH team at RAREfest22, as they help people understand the genetics of rare disease. Do you fancy a career in health science?

We would really like to inspire young people to consider a career in healthcare science within the NHS. So at RAREfest22 we will have some fun activities alongside the opportunity to ask questions for our Clinical Scientists, Genetic Technologists and Bioinformaticians. We are planning to entertain and hopefully educate and inspire the next generation of healthcare
scientists!

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Launching ‘Days of Rare’ photography exhibition at RAREfest22

Launching ‘Days of Rare’ photography exhibition at RAREfest22

by | Oct 20, 2022 | RAREfest

Same but Different was born out of Ceridwen’s experience of having a child with a rare disease. Combining her passion for photography and her considerable knowledge in marketing Same but Different was established in 2015.

The Real You

Focussing on the positive and raising awareness of the person behind the rare disease disability has enabled Same but Different to create art exhibitions that put people’s lived experiences at the heart of the story. Ceridwen and her team utilise photography, film and written work to create stunning visual experiences to change attitudes and empower those affected.

I wanted to combine my passion for photography and knowledge of marketing in a way that helped highlight the person behind the rare disease rather than simply their condition.
Ceridwen Hughes

CEO, Same but Different

Unify, Celebrate, Share

Same but Different also provide support services and have launched a new online magazine Rarity Life that offers those affected by rare disease, disability and cancer the opportunity to create truly inclusive content, to unify collective experience and to celebrate and share difference.

Rarity Life hopes to bring something for everybody and its content ranges from informative to visually stimulating – a magazine that can be dipped into or you can immerse yourself into the power and beauty of the imagery.

For me there’s a huge pressure every time I pick up the camera and either video or take photographs of the person. I really want to do the very best for them, to create art that people want to engage with. I believe that every person that I meet inspires me to keep improving until we produce work that engages, is accepted and understood with those wider audiences.

UK launch of Days of Rare…

At RAREfest22, Ceridwen will be bringing her exhibition ‘Days of Rare’ which looks at the quirky elements for people living with rare diseases. This exhibition aims to draw in the viewer into truly wanting to find out more about rare diseases and the people living with them. As Ceridwen explains:

It’s all about looking and finding the unexpected. Through looking at these images it will hopefully ignite a passion for the public to find out more about how rare diseases impact on an individual in a way that they hadn’t understood or known about.  I really hope that they will enjoy looking at the images and finding out more about the people behind them.

Expect the Unexpected!

So come along and see the wonderful exhibition and be prepared to be stunned by beautiful photographs and learn more about the people snapped by the lens!

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Dr Richard Gorman – animating the world of rare diseases

Dr Richard Gorman – animating the world of rare diseases

by | Sep 12, 2022 | RAREfest

People with rare conditions often feel their voices are lost in the wind, vying for attention against other better-known diseases. Creating memorable, unique ways of communicating stories can help rare voices get heard.

Animation, memorability, insight

With a background in social science and as a member of the haemophilia community, Dr Rich Gorman is interested in people’s lived experiences of healthcare. Together with his colleagues Bobbie Farsides and Tony Gammidge, their project pushed the boundaries of academia, showcasing the great potential in arts-based methods for creating ways to evoke patient experiences.

Securing funding from The Wellcome Trust, the project invited rare families to participate in creative mediums like stop-motion animation and collage. It revealed innovative ways that messages can travel to others through emotions, insight, and memorability.

Poignantly, it revealed the impact of taking such messages back to clinical colleagues and policy members in translating the subjective experiences of those with rare diseases. The collection of works has been showcased to Brighton and Sussex Medical students who revelled in the benefit of gaining a more holistic understanding of life with a rare disease.

“We found just how powerful and evocative the creative pieces produced by families with rare conditions can be in communicating the challenges and joys of daily life with a rare disease.”

Dr Richard Gorman

Project co-ordinator

Academia meets subjectivity

Publishing their project meant overcoming barriers in the typical confines of academia – like academic journal submission lengths and format. It highlighted the potential for arts-based methods and the challenges in expressing their impact in the scholarly sphere.

The project aimed to collaborate with participants, working with them at every step, maintaining receptive to creative mediums that were both effective and fun to partake in.

Vaila Morrison participated in the project alongside her daughter, who has KAT6A syndrome. She described the value of connecting with other rare families, sharing ideas and mutual understandings.

 “An important part of the project has been expressing feelings not just around the rare condition itself, but also those evoked from navigating processes like obtaining a diagnosis, accessing healthcare, and the challenges surrounding this.”

Vaila Morrison

Project participant

At Rarefest22, the team will share some of the project’s spectacular artistic pieces, messages, and stories. They are excited to share some of the artistic pieces that the participants have created and to give them a wider platform

The collection of works provides an innovative means to help people outside the rare disease community understand more about what life can be like with a rare disease. There will also be an exciting opportunity to come and have a go!

Book your ticket for RAREfest22

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