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Challenges facing families after a rare disease diagnosis

Challenges facing families after a rare disease diagnosis

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

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

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

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

Cambridge Rare Disease Network - Challenges facing families after a rare disease diagnosis 1

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

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

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

Rare disease patient

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

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

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

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

 

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Living with a very rare bone condition

Living with a very rare bone condition

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

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

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

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

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

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

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

Cambridge Rare Disease Network - Living with a very rare bone condition 2

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

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

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

Karen Whitehead

Rare disease patient

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

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

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

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

Cambridge Rare Disease Network - Living with a very rare bone condition 3

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Sensmart – providing multi-sensory solutions

Sensmart – providing multi-sensory solutions

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

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

Identifying challenges

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

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

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

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

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

Aisha Purvis

Founder , Sensmart

Cambridge Rare Disease Network - Sensmart - providing multi-sensory solutions 4

Suggesting solutions

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

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

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

Alex Chikhani

Co-founder, Sensmart

 

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

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

Book your ticket for RAREfest22

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Unique Feet Outdoors

Unique Feet Outdoors

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

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

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

Cambridge Rare Disease Network - Unique Feet Outdoors 5

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

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

Cambridge Rare Disease Network - Unique Feet Outdoors 6

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

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

unique feet alpkit foundation
unique feet alpkit foundation

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

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

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

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

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

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

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

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

Characterising Key Challenges 

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

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

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

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

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

Katie Callaghan

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

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

Solving the Problem

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

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

Rachel Fletcher

Hospital Youth Worker, Colchester Hospital

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

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

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

transition to adult care summary of recommendations

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

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

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

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

RAREsummit21 logo for website menu only

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

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

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

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 7
photo of Alex Lloyd
Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

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

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

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

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

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

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

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

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AMPLIFYING patients’ voices 

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

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

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

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photo of Sophie Muir
Image: Sophie Muir Chair of the Timothy Syndrome Alliance 

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

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

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

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

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

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

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

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

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

Book your tickets

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

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

by | 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/

Microsoft logo
Melita Irving DNA Doc

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

Every Cookie is Hope

by | 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!

RAREfest saturday speaker Giles Yeo

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.

Dana Perella Cookies for Cures
Dana Perella Cookies for PANS

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

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

by | 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

RAREfest saturday speaker Giles Yeo
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.

puff of smoke sarah lippett rarefest20

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Dr Melita Irving- The DNA Doc at RAREfest20

Dr Melita Irving- The DNA Doc at RAREfest20

by | 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!

DNA Doctors Melita Irving RAREfest20

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.

Melita Irving DNA Doc

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

Journey of Hope: Ceridwen Hughes at RAREfest20

by | 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

RAREfest saturday speaker Giles Yeo

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.

RAREfest20 logo

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 10

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New Scientist magazine: Rare disease campaign 2020

New Scientist magazine: Rare disease campaign 2020

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

Cambridge Rare Disease Network - New Scientist magazine: Rare disease campaign 2020 11

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.

Lucy McKay M4RD image
Cambridge Rare Disease Network - New Scientist magazine: Rare disease campaign 2020 12

“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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