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

by Lindsey Brown | Sep 18, 2023 | Uncategorized, Artificial Intelligence, Community, Raising awareness, Summit, 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

by Georgie | Sep 6, 2023 | Community, Raising awareness, Summit

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

by Lindsey Brown | Aug 10, 2023 | Patient experience, Raising awareness, Summit

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

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

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

Amit Ghose

Motivational speaker, coach

Living with Neurofibromatosis Type 1

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

Childhood struggles

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

The bullying and social isolation

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

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

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

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

Amit Ghose

Motivational speaker, coach

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

Family support and coping mechanisms

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

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

Overcoming obstacles

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

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

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

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

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

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

Advocacy and Empowerment

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

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

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

Embracing individuality

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

Come and meet Amit at RAREsummitt23!

Book your ticket for RAREsummit23

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

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

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

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

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

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

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 1

Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

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

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

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

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

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

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

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 2

AMPLIFYING patients’ voices

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

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

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 3

Image: Sophie Muir Chair of the Timothy Syndrome Alliance

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

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

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

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

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

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

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

Book your tickets

Bionical EMAS Naomi Litchfield presenting

Image: Naomi Litchfield Bionical Emas

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

Book your tickets

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

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

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

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

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

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

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

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

Patricia Weltin

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

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

Read more…

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

A project from the heart to the heart

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

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

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

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

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

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

Read more…

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

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

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

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

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

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

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

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

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

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

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

Patricia Weltin

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Keeping people with rare diseases connected: The challenges they face during the pandemic

by WOMANTHOLOGY | Nov 16, 2020 | Collaboration, External Blogs, Healthcare, Raising awareness

Jo Balfour is managing director and a founding member of Cambridge Rare Disease Network (CamRARE), a charity that brings together stakeholders from research, industry, business, healthcare and patient advocacy groups making a real difference in the lives of people living with rare diseases. Jo manages the overall operations of the charity, including their diverse events programme – RAREfest and RAREsummit, networking and educational events. She has 25 years’ of previous experience in secondary teaching, specialising in the field of special educational needs and children in care.

“Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.”

Getting into teaching children with special educational needs and disabilities

I began my career in teaching in 1992 having undertaken a degree in geography at the University of Manchester followed by a PGCE at the University of Liverpool.

Following a baptism of fire in an all boy’s comprehensive school in Liverpool, I moved to London. Teaching there was a turbulent and life-changing time working in a vibrant but challenging inner city school. It was here that my path into specials needs education was carved.

I went on to manage the special educational needs and disabilities (SEND) department in schools in London and Cambridgeshire before becoming an advisory teacher for children in care in 2003.

My move into special educational needs teaching was within a mainstream school environment. I worked with many young people who struggled with this environment and was inspired by the specialist teachers I worked alongside in London who were able to differentiate, be adaptable, empathetic and creative to find ways of engaging all young people, irrespective of their learning or physical challenges.

I wanted to be able to help all young people find their place in the world and take part fully in a way that worked for them. Often it is the world around the child that is the barrier to them being fully enabled.

In 2015 I became a founding member of the Cambridge Rare Disease Network (CamRARE), a passionate group of people intent on pulling together the disparate parts of an emerging rare disease research and therapeutic community within Cambridge’s science parks, the Biomedical Campus at Addenbrookes and the universities.

I was part of a team who held the first CamRARE summit at Cambridge Judge Business School where we packed the room with experts and the curious to hear from rare disease pioneers from around the world.

Over the following five years I gradually devoted more time to the charity, creating and delivering their diverse events programme and establishing the UK’s first regional children and family’s group for those affected by any rare disease, Unique Feet. I took up the role of managing director of the charity a year ago following the retirement of our CEO, the inspiring Kay Parkinson, who lost both of her children to Alström Syndrome.

Supporting those with rare diseases

CamRARE has three main areas of focus: raising awareness; promoting cross-sector collaboration; and supporting families.

To raise awareness and promote collaboration, we have developed a diverse events programme including our RAREsummit and Companies Forum which cater for the key stakeholders in rare diseases – the patients, patients advocacy groups, healthcare professionals, established and start-up pharmaceutical and biotech companies, researchers and policy-makers.

These events showcase emerging science, technology and advocacy and provide interactive opportunities for debate, networking and nurturing alliances.

We also deliver collaborative events with other organisations to reach audiences that are vital to making a difference, but more difficult to engage, and we take part in and deliver a broad range of public-friendly events to make sure rare disease is firmly embedded in more mainstream agendas.

Our Unique Feet community group is at the heart of all we do. This is a flourishing community of families affected by a wide range of rare conditions. Many will never meet another person with the same disease and their rare disease journey can be a lonely and torturous one, often plagued by the lack of a diagnosis, misdiagnosis, few available treatments and support.

We support the group to do fun activities together which are accessible, whatever their learning or physical needs. They have so many similar experiences, irrespective of their condition that they really feel they have found their tribe. The families are a passionate collective voice for rare disease in our community, speaking at events, engaging with the media, serving as trustees and advocating whenever they can.

Creative thinking, inspiring and cajoling, forensic planning, juggling and management

I rarely have two days the same and couldn’t begin to list the vast range of roles I undertake and tasks I do.

A significant part of my time is spent creating and delivering events of some description. This generally follows a linear path of creative thinking, inspiring and cajoling, forensic planning, juggling and management. We pride ourselves on being innovative and tackling problems in ways that others aren’t, on a shoestring, with a tiny core team.

The inspiring and cajoling aspect of my work is essential to persuade the right people to take part as speakers, exhibitors and volunteers, to engage experts and companies to help us with aspects of the work pro-bono, to encourage sponsors to fund our events and to inspire people to attend. I spend a lot of time building relationships with others and making them feel part of the team.

The forensic planning involves everything from developing social media schedules to managing budgets, creating marketing plans and maintaining immaculate logistics to ensure the events run smoothly. And management is a case of keeping my virtual team motivated, inspired and in tune and time with each other whilst keeping tabs on an army of volunteers.

I also take time to engage with our Unique Feet group whenever I can and help with the planning of their activities and applying for grants to fund these.

More recently our connections have been virtually through our WhatsApp group, socially distanced visits to a beautiful garden that has opened just for us, as well as regular Zoom activities including yoga and wine bar night! We’ve just started creating a virtual dance performance for our upcoming event RAREfest20 so I’m turning my hand to some filming and editing too.

It’s important to not be afraid of turning your hand to anything that’s needed in a small charity. It’s incredible just how much you can learn to do if you’re prepared to give it a go.

#RAREfest20

RAREfest20 is very much a public-facing event, a full-day festival featuring fascinating talks, a gallery of art, patient journey posters and film, some games and challenges and interactive exhibits showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases.

The event is free and there is content for children and families, the experts and the curious. Everyone’s welcome!

Despite our plans to hold this event at the historic Guildhall in Cambridge, we’ve found an all singing all dancing virtual platform to try and emulate that festival feel. The aim of the festival is to kindle curiosity about rare disease, to educate the public and help dispel myths.

In 2018 we had 1000 attendees over two days and this year we hope to reach an even wider and more diverse audience from around the world.

The challenges people with rare diseases need to face

Those living with rare diseases were already struggling with delayed diagnosis, few treatments and uncertain care pathways. We call them ‘rare’ because each disease, individually, often affects only a few people.

However, there are more than 8,000 rare diseases, probably more as many remain undiagnosed their entire lives, so are collectively common. With 1 in 17 people affected, around 3.5 million in the UK and 350 million people worldwide, they have a global prevalence similar to asthma.

But the small numbers affected by each disease mean they struggle to attract attention, funding for research and interest from pharma companies. Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.

Many who rely on carers coming into their homes or on external support such as physiotherapy have seen their services and support networks halted. For those taking part in clinical trials and those running them, the inability to travel to and visit trial centres or recruit patients or redeployment of their teams, has led to trials being paused. Even orphan drugs awaiting approval from regulators have been deprioritised.

Many families were directed to shield by the government and have continued to do so leaving them isolated and disconnected.

Keeping the community connected

We took all of our community activities online as soon as lockdown began providing yoga and catch up sessions to keep families connected. Our WhatsApp group chat became a great resource where mums shared experiences, ideas and tactics to get through shielding. The camaraderie was wonderful!

We received some COVID-19 emergency funding to support this and to enable us to make up and deliver activity bundles to each family once a month. We helped some to get online shopping slots and delivered shopping to others. It was a great team effort and I got as much from the community as they got from us.

During April I was fortunate to work with a team of six Cambridge University PhD students and we used our lockdown time wisely to undertake a five-year impact review and report for Unique Feet. The students were incredible, interviewing every family via Zoom and creating a beautiful testament to the success of the group.

In addition to this, we began a collaborative project with two other rare disease organisations – Medics for Rare Diseases and Rare Revolution Magazine to create Action for Rare Disease Empowerment (ARDEnt).

This multi-stakeholder coalition of UK-based experts involved in rare disease across different sectors – from patient advocacy professionals, data-managers, academics, healthcare and industry.

We are united in our goal to bring benefit by exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic in order to plan for a better response to future crises and improve the rare disease patient journey post COVID-19.

ARDEnt hopes to illuminate examples of creative adaptability and best practice which could be utilised more widely in the future. Findings and recommendations from ARDEnt’s Making the Unseen Seen project will be delivered as a report in order to influence the UK Rare Disease Strategy 2020 creation and implementation.

Future plans

RAREfest20 is our next major activity but this will be closely followed by our first foray into speed-dating. As part of our Companies Forum initiative, we’ll be hosting a partnering event between our forum pharma and biotech members and a selection of patient groups to facilitate better patient engagement in the drug development process.

We’ll be moving on in 2021 to the creation of our next RAREsummit and have plans to expand our community support programme by partnering with another charity called Same but Different who have been piloting a Rare Navigator programme, providing a caseworker for families affected by rare diseases.

We plan to hold some new joint events with others including a collaboration with the Eastern Academic Health Science Network to help spark innovation in solving the problems of rare diseases identified by patients themselves.

We hope to see the future development of ARDEnt as a truly collaborative project and to use this as a vehicle to hold devolved governments to account in the development and implementation of the UK Rare Disease Strategy due to be published at the end of 2020.

I plan to continue to lead CamRARE into new ventures and to do what we do well in the service of those living with rare conditions.

https://www.linkedin.com/in/balfourjo/

https://www.camraredisease.org/

https://twitter.com/camraredisease

Cecily Morrison – Inclusive Design is About Taking a Disability-first Approach

by Jo B | Nov 11, 2020 | Community, Events, Raising awareness, RAREfest, Research, Technology

Cecily Morrison – Inclusive design

Cecily Morrison is a principal researcher at Microsoft Research in Cambridge. She leads a multi-disciplinary team that innovates new technologies to enable people. Last month Cecily was awarded an MBE for services to inclusive design. She and her team are exhibiting at RAREfest20. More on that later, but first …

Congratulations on your MBE! How did that feel?

I was extremely pleased that inclusive design has been so clearly recognized. Inclusion is not a ‘nice-to-have’, it is essential for a diverse set of people to take part in society. I am grateful that I’ve had the opportunity to make technology, working with amazing teams, that supports people with their inclusion.

What does Microsoft in Cambridge do in terms of inclusive design?

Inclusive Design is a really good way to innovate. By working with those with unique perspectives, it can help a team think about a problem in a different way that can benefit all. Our team is currently focused on building AI tech to help people who are blind or low vision better understand who is in their immediate vicinity.

What kind of products do you work on and what difference do they make?

One of the products specifically mentioned in the MBE award was Code Jumper – a physical programming language for teaching the basics of coding and computational thinking to children ages 7 – 11, regardless of their level of vision. This came about after engaging with a community of young blind and low vision people in Cambridge, a community that my son is now part of. Coding is a key part of our curriculum, but it isn’t accessible to those who are blind or low vision. We wanted to build something that would allow children who are blind or low vision to code alongside their sighted peers.

Read more about how Code Jumper started.

How does Microsoft work with people with accessibility challenges?

Microsoft believes in accessibility from the top down and the bottom up. Whether in research (like me) or in product, we work with people to understand their experiences now and in the future.

Why is inclusive design important and why is it often difficult to get products adapted?

I believe that we need to take a disability-first approach, not disability-last. If it works for those with disabilities, it is much easier to make it work for the mainstream. We are moving into the next phase of AI tech and I would highly encourage those with disabilities to get involved in disability-first datasets, such as https://orbit.city.ac.uk/phase-2-data-collection/

For technologies to reflect a diverse set of people, they must be trained on data of all of those people. Find out more here: https://blogs.microsoft.com/ai/shrinking-the-data-desert/

What can people expect from the Microsoft booth at RAREfest20?

We will be showing some of our tech and giving you the chance to try out inclusive design. Whether it’s a tool you can bring as a patient to groups you work with, or as a student who wants to approach the world in a more inclusive way, there will be something for you to learn.

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Every Cookie is Hope

by Jo B | Oct 28, 2020 | Community, Events, Fundraising, Patient Groups, Raising awareness, RAREfest

Every cookie is hope

Ten-year-old Dana from Boulder, Colorado, is no ordinary kid. In fact, she’s done something extraordinary in the quest to find treatments for rare diseases. What started out as a fundraiser to help her friend Mila has now turned into a lucrative non-profit cookie enterprise where every batch equals much needed cash for cures. At RAREfest20, Dana will lead a cookie decorating workshop and answer your questions. She hopes you’ll be inspired to get baking, too!

How did Cookies for Cures start?
It started when I was 7. At speech therapy I made this amazing friend called Mila. She was really nice and really bubbly. We’d just talk and play together. When I found out she was sick with a rare and fatal disease called Batten, I just had to help her. Me and my mom came up with the idea to sells cookies. That’s how it started. We called it Cookies4Mila. The next year we decided to set up a non-profit called Cookies4Cures. So far, we’ve baked about 17,000 cookies and raised over $100,000. Each cookie is hope.

Why cookies?
Well, I’d never baked before, but I loved eating cookies. Originally, I thought I’d sell cold lemonade but that wouldn’t really work in the winter. We were planning to raise money all year round. Cookies were perfect, because you can eat cookies in the summer, in the winter, when it’s hot, when it’s cold. Who doesn’t love cookies?!

What’s been the response?
Surprisingly, a lot of people say they could never do what I’m doing, but I don’t think that’s true. We can all make a difference. You just need to start!

This is about raising money, but also awareness. Do you think you’re making a difference?
I’m not that well known, but I know I’ve made a difference to Mila’s life. We raised around $50,000 to pay for treatment and that prolonged her life.

How has Mila’s rare disease impacted on her?
She’s a completely different person to how she was when I met her. She can’t see, she can’t talk, she can’t walk, she can’t do so many of the things that she used to be able to do. It’s really tough.

What have you learnt as a result of your work over the last 3 years?

I have two other friends with rare diseases, Ollie and Ben. I’m not sure I’d know about rare diseases if some of my friends hadn’t got them. It’s made me realise that, as a whole, rare diseases aren’t that rare. Doing Cookies4Cures has made me less afraid to speak up and help my friends.

Who is your hero and why?
Greta Thunberg. She spoke up for what she believed was right and she doesn’t let anyone stop her!

Where’s your favourite place in the world and why?
I’m not entirely sure. Probably eating cookies! Mum has a rule on that we can’t eat any cookies until after a bake sale is done.

What is your greatest achievement?
Prolonging Mila’s life. That feels like the most important thing that ever happened. It let me enjoy more time with her.

What is your hope for rare disease?
I hope that one day there’s a treatment for every single rare disease, so no one has to suffer, or watch their friends die or get so sick that they can no longer recognise them.

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A Puff of Smoke at RAREfest20: A comic book on being undiagnosed

by Jo B | Oct 27, 2020 | Community, Events, Healthcare, Patient Groups, Raising awareness, RAREfest, Treatments

Sarah Lippett will be talking about her book “Puff of Smoke” at RAREfest20

““Too often you’re seen as a number, rather than a human being. That needs
to change.” – Sarah Lippett, Artist, Illustrator, Author and owner of two rare diseases

If you are a young person on your diagnostic journey or you’ve travelled that path yourself or with a loved one, then you’ll want to check in with RAREfest20 exhibitor, Sarah Lippett. Why? Because Sarah, who has two rare diseases, knows better than anyone the impact of ‘not knowing’ and the frustration of misdiagnosis.

Sarah’s comic book memoir ‘Puff of Smoke’ is all about the isolation of being undiagnosed. Her journey lasted from the age of seven to eighteen, a young lifetime of lengthy spells in hospital, lost friendships and missed opportunities. As an author and illustrator, Sarah wanted to create something that would give hope to young people on their diagnosis journeys – and raise awareness within medical circles.

Visit Sarah’s Crayonlegs exhibit at RAREfest20 – tickets here https://www.camraredisease.org/rarefest20/

At 12, Sarah was diagnosed with FSGS, a rare condition that causes scar tissue to develop on parts of the kidneys that filter waste from the blood. Not so rare. It actually affects 1 in 17,000 people. With medication, her condition stabilised long term.

Then, at 18, Sarah was also diagnosed with Moyamoya, which is far more unusual, affecting 1 in a million people in the UK. It causes the blood vessels to the brain to become narrowed, leading to paralysis and stroke. An operation all but cured this allowing her to live a full, busy life.

Last month, after sixteen years, Sarah’s FSGS symptoms returned, throwing her back to the uncertainty of her early years. It is a stark reminder of how uncertain life is with chronic illness and how dramatically life can change.

“One minute I’m taking my health for granted, running marathons, travelling with work as an artist and writer, lecturing at university and publishing a second graphic novel with Penguin. Then suddenly, overnight, here I am with deteriorated kidney function. The disease is back and I’m suffering on high dosages of my treatment like when I was a child.”

Join Sarah at RAREfest20 to explore her exhibit and discover more about her diagnosis journey and her life since.

Check out Sarah's book

“It’s a life I thought was in the past, but it’s different now. I’m an adult with responsibilities, a career and a real life. My mum and dad aren’t my carers anymore. I feel I have to be even stronger now but it’s very, very hard. In a way, the only silver lining is the pandemic. My condition would prevent me going onto the university campus, but thankfully I’m able to teach my students online. This gives me connection to the outside world, happiness and distraction. I don’t feel jealous that I’m missing out, because we’re all at home, restricted, and there’s something comforting in that. I’m taking pleasure in smaller things – walks around my new home of Portobello in Edinburgh and trying to remain hopeful that this is just temporary. It will pass.”

Who is your hero?
My mum and dad. If it wasn’t for them, I don’t know if I would ever have got a diagnosis. They fought for me and never treated me any different to my siblings. Even when my body was out of control, they burned it into the back of my mind that I can do anything I want. I’ve lived my whole life with that positivity.

Where is your favourite place in the world?
Anywhere my husband and my dog are! I love Portobello Beach in Edinburgh. It’s incredibly
relaxing and calm. Scotland is stunning. It’s a wonderful place to live.

What is your greatest achievement?
Being a published author twice, against the background of my school life which was ‘You’ll never achieve anything!’ I also have a BA degree and an MA from the Royal College of Art, which I’m really proud of.

What is your hope for rare disease?
I hope that the community keeps growing and that awareness keeps growing. I hope the route to diagnosis gets shorter for everyone.

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Dr Melita Irving- The DNA Doc at RAREfest20

by Jo B | Oct 1, 2020 | Community, Events, Genomics, Healthcare, Raising awareness, RAREfest, Research

Known as the DNA doctor, Melita Irving is passionate about … well, DNA! She works as a consultant in clinical genetics at Guys and St Thomas’s Hospital, specialising in conditions that affect the skeleton. Last year Melita’s book ‘The Human DNA Manual’ was published by Haynes, covering everything from how DNA catches killers to identifying long-dead kings! Who’s the book for? Anyone with DNA!

At RAREfest20 Melita will be doing a live DNA extraction, not on a human (phew!) but on a strawberry. She’ll be interviewed by Dr Lucy Mackay from Medics4RareDiseases, a charity that drives an attitude change towards rare diseases amongst medical students and doctors
in training.

We caught up with Melita ahead of RAREfest20 to talk all things DNA…

What does a genetic scientist actually do?
Genetics impacts upon every system in the body and affects everybody! The most common type of referral into the clinical genetics service is a child who is not meeting their developmental milestones. Maybe they’re not growing as expected. Maybe they look different. Maybe they have an abnormality, like a hole in the heart. The question needs to be asked: Is this child just unlucky or could there be one single explanation that accounts for everything – and could it be genetic? Being a genetic scientist is exactly like being a detective, looking for that key clue that leads you down the right path and not being confused by any red herrings that are thrown in the way.

How has technology changed the way rare diseases are diagnosed?
There are 20,000 genes, all of which can go wrong, and there are 8000 listed genetic disorders that are classed as rare diseases. Up until very recently we’ve been absolutely hamstrung by our ability to do genetic testing for diagnostic purposes. We used to put all the clues together, do our ‘best guess’ diagnosis, see if there’s a test available and then get that test done. After all that, you find you’ve been on the wrong path the whole time. So, you’d have to come back up that path and go down another one. Rinse and repeat. It could be a very long drawn out process that never led to any answers.

However, we are now in an era where we can do high throughput genetic testing. We are able to look at all the genes in one go and focus all our attention on those we think are relevant to the story. You can go down ten different paths at the same time! We are anticipating that in the next year or so the speed at which we get to diagnosis through genetic testing will be much quicker. That’s all down to technology and whole genome sequencing.

Why are rare diseases so hard to diagnose?
Not many people know about rare diseases and there are so many of them, plus there’s no one type. You might have the same diagnosis as someone else, but the format of your rare disease is completely different.

Another problem is at medical school we are frequently told not to worry about rare diseases and concentrate on more common conditions. This means rare diseases are never fully appreciated and that bit of the ‘doctor brain’ never gets to develop. Medics4RareDiseases are pushing for more learning at medical school and in early stage careers, so rare diseases become something you must think about.

Technology has opened up the door for a much more rapid diagnostic system for rare disease, which will mean they will be pushed up the agenda and that will encourage greater awareness.

Who is your hero and why?

Rosalind Franklin. An unsung hero who doggedly worked away at discovering the structure of DNA, didn’t get recognition for her amazing work, but didn’t make a fuss about it. I’ve seen the photograph she took that led to the understanding of DNA as a double helix. It’s a wonderful thing to behold.

Where’s your favourite place in the world and why?
This year I didn’t get to go to any the events I usually do, but I did manage to get a holiday! I went to Rhodes in Greece and it reminded me how much I love all things Greek! The sky, the sea, the food, the language. Just lying on the Mediterranean in the sunshine with the prospect of a delicious lunch on the beach is probably one of my favourite places to be.

What is your greatest achievement?
The book! I’m delighted with how it’s turned out. It looks so pretty and is accessible to people who might not know anything about DNA. If I can impart my love of DNA to other people, that would be a very fine achievement.

What are your hopes for the future of rare disease?
With all the improvements in how rare diseases are diagnosed, it would be really great if the next step was finding treatments that will make things better for patients with rare diseases. That’s where I’d like to see the future going.

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Journey of Hope: Ceridwen Hughes at RAREfest20

by Jo B | Oct 1, 2020 | Community, Events, Genomics, Patient Groups, Raising awareness, RAREfest, Technology

“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.”
– Ceridwen Hughes, Same but Different

Founder of Same but Different, Ceridwen Hughes, will lead a webinar at RAREfest20 all about the diagnostic journeys faced by parents of children with rare diseases. It’s based on the critically acclaimed film ‘Journey of Hope’, which Ceridwen directed. Here she talks to us about the importance of diagnosis, her hopes and her heroes.

As a parent of a child with a rare disease, what does RAREfest20 mean to you – and your child?
Awareness about Rare Diseases and the celebration of this wonderful community is really important. RAREfest is a brilliant opportunity to bring people together and share experiences, whilst also educating one another and the wider community about all things rare!

From your research and your own experience, what frustrations do parents face in their diagnostic journey?
In our film, ‘Journey of Hope’, I think Iggy’s mum, Sarah, explained it perfectly. She said, “The diagnosis certainly doesn’t give us simplicity, but it gives us a starting point. It gives us a starting point to begin to understand what Iggy needs. Before that, we had nothing.”

Our own diagnostic journey was relatively short. It took 11 months, but this felt like a long time to us. Sadly, for so many, it can take many more years. The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge. When I chat with parents as part of my work, we immediately have that shared bond, even if our child’s rare disease is very different. You just ‘get it’.

There are so many barriers in place before you get a diagnosis, including from some medical professionals. We recently gave a talk to medics. Whilst grabbing a coffee, a consultant said that he often saw patients in his clinic and, even if he knew what their condition was likely to be, he did not see a value in telling them. This arrogance and lack of understanding needs to be addressed. It is one of the main drivers for creating the ‘Journey of Hope’. We wanted to open up dialogue about the importance of a diagnosis whilst also highlighting it is not the answer to all your problems.

Does life become easier with a diagnosis?
From our experience one of the things that is important when you get a diagnosis is that you don’t only look at disease-specific information. The answer to a problem often comes from other sources and other diseases. Through our Rare Navigator service, we support families with any rare disease. It has been helpful in sharing ideas or solutions that others, often with very different diseases, have found works for them. The knowledge within the rare disease community is vast and it is important it is shared across the spectrums.

You have spoken to and photographed numerous people with rare diseases. What have you learnt about the rare disease community?
Over the years I have spoken to so many people affected by rare disease, including parents, individuals affected and other close relatives. The word that jumps out is resilience. The strength to keep on getting back up, even after the most incredibly difficult times, is awe inspiring. The rare disease community is always on hand to provide information, support and a big hug when needed.

Dr Giles Yeo says the biggest challenge is convincing people that understanding rare diseases benefits the whole of society. Do you agree?
Absolutely. Finding treatments for rare diseases that can be used for more common ailments is just one example. In a world where people are often judged on what they look like rather than accepted for who they are, it makes it even more important that society is aware of rare diseases. Recognising the challenges people go through will ultimately lead to a kinder, more compassionate community.

One of the reasons I set up ‘Same but Different’ was to capture the person behind the condition rather than simply show their disability. We use photography, video and written narratives that give the individual a stronger voice in their community. Often, it’s the first time they have shared their very personal experiences. It has really helped others understand their challenges.

Who is your hero and why?
I am incredibly lucky that each day I get to work with my heroes. I know it sounds a bit corny, but my heroes are each and every parent whose child gets a rare disease diagnosis and has to carry on and fight for their child to access the treatments and support they need. These are the parents who have to smile when they are condescended to. These are the ones who have to smile when their heart is shattering because, once again, their child is overlooked or underestimated.

Where’s your favourite place in the world and why?
It has to be Finnish Lapland, a small ski village called Levi which is far above the arctic circle. We had the most magical week’s holiday there. It was the first time we went on a husky ride through the snowy forest at -21 and Isaac fell asleep on a sledge whilst we looked for northern lights. A close second would have to be Tromso in Norway, again a magical place in the winter.

What is your greatest achievement?
Picking up the camera for the first time and having the courage to follow my dreams and change career in my 40s. I would also say setting up an MDT for Moebius syndrome when one did not exist before.

What is your hope for rare disease?
I would hope that one day it is recognised for not being rare and, with that, people may be more willing to look at the overall impact these diseases have on health, education and the community as a whole.

Cambridge Rare Disease Network - Journey of Hope: Ceridwen Hughes at RAREfest20 4

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← New Scientist magazine: Rare disease campaign 2020 Dr Melita Irving- The DNA Doc at RAREfest20 →

New Scientist magazine: Rare disease campaign 2020

by Jo B | Sep 28, 2020 | Collaboration, Community, Drugs and pharmaceuticals, Healthcare, Raising awareness

CamRARE were delighted to recently take part in a new Rare Disease campaign in the New Scientist Magazine published on 24 Sept. It is dedicated to raising awareness of rare diseases featuring exclusive content from key thought leaders (including CamRARE!). It discusses the importance of collaboration in rare disease and the potential silver linings that can be found in the midst of a pandemic. You can pick up your copy in shops now or read our article and the full the rare disease campaign online here at Health Awareness.

Cambridge Rare Disease Network - New Scientist magazine: Rare disease campaign 2020 6

“Dr Lucy McKay from M4RD, Rebecca Stewart from Rare Revolution and I came together in March 2020 with a mutual concern about how devastating the impact of COVID-19 an the global response to it was on rare disease. Concerns focussed around delayed diagnosis as genomic and medical services were halted, patients medical and social care crumbling around them and the prospect of cancelled research and delayed clinical trails and drug approvals as resources were diverted away. We shared a collective drive to make sure we learned everything we can about how the pandemic has affected those with rare diseases and rare disease services – the risks, but also opportunities such as the overnight opening up of networks by using digital communication.

From some initial discussion Action for Rare Disease Empowerment (ARDEnt) has grown – a collaborative multi-stakeholder group from across different sectors and industries. Because if we can’t all come together for rare disease now, when will we?”

Jo Balfour (Managing Director)

Jo Balfour CamRARE New Scientist Magazine

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← Dr. Giles Yeo "RAREfest20 is a unique event that drives better science" Journey of Hope: Ceridwen Hughes at RAREfest20 →

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Sarah Lippett will be talking about her book “Puff of Smoke” at RAREfest20

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“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.”– Ceridwen Hughes, Same but Different

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““Too often you’re seen as a number, rather than a human being. That needs
to change.” – Sarah Lippett, Artist, Illustrator, Author and owner of two rare diseases

“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.”
– Ceridwen Hughes, Same but Different