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CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day

CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day

by | Mar 2, 2023 | Rare Disease Day, Patient experience, Unique Feet

Understanding the challenges facing families seeking diagnosis for a rare condition, often called the diagnostic odyssey is crucial says CamRARE, the Cambridge Rare Disease Network. A diagnostic odyssey is described as the time taken between when a symptom or feature of a genetic or rare disease is observed to the final diagnosis.

The average waiting time for a final diagnosis is currently estimated to be around five years and can involve the input of, on average, 4-5 doctors. But it can often take much longer, or result in being unable to diagnose. For many families, navigating their child’s diagnostic odyssey can be a long and painful journey. Trying to find answers to why their child presents with specific characteristics and health conditions and trying to understand what is causing them can be difficult, time-consuming, and a trying process that takes its toll. Danielle and her husband know all about this. It took them over four years to obtain a diagnosis for their son Reuben and they met many different consultants along the way. As Danielle explains:

“Reuben had his first testing at less than 6 months old – neither of these gave us or the doctors any answers. At this point, Reuben was referred to Great Ormond Street Hospital. We first met in July 2019, when Reuben had just turned one. In February 2020 Reuben had bloods taken for Whole Exome Sequencing (WES) This returned a normal result. There are many challenges that come with having a child with an undiagnosed condition. There is guilt, isolation, frustration, and stress, amongst many other emotions. From very early on in Reuben’s life we began to feel isolated and alone, that we didn’t ‘fit in’. Without a diagnosis it was very difficult to answer questions about Reuben.

Not being able to find the answers is a frustrating process for families. Numerous clinic visits, hospital stays, and tests that still seem to provide no definite answer make the diagnostic odyssey a traumatic one for many families as they attempt to manage a child’s symptoms without knowing their cause and the best way to support them.

Danielle explains this burden of care:

“We had an appointment with the geneticist every 6 months, so that she could be updated on Reuben’s development, and find out whether any new medical complications had arisen that may give her more clues. Reuben’s geneticist was very clear from the start that we may not find the answer to Reuben’s difficulties for a number of years, and potentially never.”

Danielle

Cambridge Rare Disease Network - CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day 1

For those who have experienced a diagnostic odyssey like Danielle, advances in genomics – and especially whole genome sequencing offer hope. Whole genome sequencing, WGS, is a laboratory technique in which the entire coding and non-coding regions of the genome are obtained. It provides a comprehensive map of a person’s genetic makeup and allows extensive analysis of all genes. The hope is that the speed of genomic technology advances will continue to increase and provide families with an answer. Danielle was delighted to finally get a diagnosis for Reuben.

 “In May 2021, when genetic testing was becoming more readily available on the NHS, Reuben was deemed suitable for Whole Genome Sequencing, to be carried out at East Genomics in Cambridge. This was the test that gave us the diagnosis.”

Danielle D Sansum

For the family it meant that they had a name- the condition is called OTUD5-related neurodevelopmental disorder. They learned it is a relatively recently discovered disorder, and there are less than 50 known cases worldwide. Reuben is the only person currently diagnosed in the UK. It also meant that they could understand Reuben and the difficulties he will face as the diagnosis provided them with a list of commonly associated complications. For Danielle, it also helped her look to the future.

We want Reuben to be happy in life, for the good days to outweigh the bad, and more than anything we want him to learn how to effectively communicate with others, in whatever form that might be. We know that Reuben’s condition is lifelong, but we now know how to explain Reuben’s presentation to others, and it should mean we can easier access care and support services when needed in the future.  

CamRARE want to support more families such as Danielle’s and have a lively and growing
community for families living with rare and undiagnosed conditions called Unique Feet. Jo
Balfour explains why giving families the space to come together is important

Danielle echoes this:

What is so fantastic about Unique Feet is that it gives children and young adults opportunities that they may not necessarily experience otherwise, and for us as parents, it allows us the space to feel completely relaxed – there are no looks from others when Reuben falls to the floor when he becomes overwhelmed – everyone is in the same boat, everyone understands. which is why it’s so important that these types of support groups
exist.

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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 2

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 3

“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 4

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Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22

by | Nov 16, 2022 | RAREfest, Genomics

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

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

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

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

Group Leader

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

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

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

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

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

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

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

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

Book your ticket for RAREfest22

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Rare Youth Revolution at RAREfest22

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

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

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

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

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

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

Youth co-ordinator

Exhibiting at RAREfest22

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

RARE youth Revolution Experience

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

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

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

Book your ticket for RAREfest22

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Finding a needle in a haystack

by | Nov 7, 2022 | RAREfest, Uncategorized

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

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

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

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

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

Clinical Scientist Lead

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

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

 

Dr Kate Downes
Genomics Lab CUH Hospital

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

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

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

Book your ticket for RAREfest22

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

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

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

Beyond the diagnosis logo for highlights page

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

Patricia Weltin

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

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

Read more…

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

A project from the heart to the heart

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

Hunter portrait Beyond the Diagnosis

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

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

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

Amber Beyond the Diagnosis Blog

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

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

​Read more…

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

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

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

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

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

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

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

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

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

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

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

Patricia Weltin

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Healx raise funding to repurpose drugs for rare diseases

Healx raise funding to repurpose drugs for rare diseases

by | Jul 26, 2018 | Artificial Intelligence, Community, Drugs and pharmaceuticals, Front page news, Fundraising

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Congratulations to Cambridge start-up, Healx, co-founded by founder and trustee of CamRARE, as it raises $10m to help repurpose drugs for rare diseases.

Forbes and the Telegraph today report that the co-founders of Healx, Tim Guilliams – founder and trustee of CamRARE, and British inventor of Viagra – Dr David Brown, have raised funding of $10m for their Cambridge start-up that uses artificial intelligence (AI) technology to find medicines to treat some of the world’s rarest diseases.

The Telegraph states “Dr David Brown, the scientist who developed the blockbuster treatment for erectile dysfunction for Pfizer, is the co-founder of Healx, a UK medical tech startup that uses machine learning to find treatments for 7,000 rare conditions that do not currently have an approved method of treatment”.

 

It goes on to explain why Healx believe that the lengthy traditional drug discovery process isn’t economic for rare diseases and how they hope to accelerate the time to drug discovery and reduce costs through their AI technology driven systems which search for drugs that can be repurposed. 

Dr Brown’s work with Viagra, which was developed originally to treat heart patients, proved that drugs intended to help one condition can sometimes be adapted to treat others. To read the full article click here.

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Medics 4 Rare Diseases Red Flag Survey

Medics 4 Rare Diseases Red Flag Survey

by | Jul 23, 2018 | Community, Guest posts, Research

Medics4RareDiseases are excited to announce the launch of their new research project: The M4RD Red Flags Survey.

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The purpose of the survey is to find out what different rare diseases have in common during the time before diagnosis, a period often called ‘the diagnostic odyssey’.

This is a piece of research that M4RD have wanted to do for many years as they have attended conferences listening to similar stories from patients and families irrespective of their specific rare disease. The final survey is the culmination of many hours of discussion and design.

The survey opens on Monday 23rd July and closes at the end of August 2018.

Please get involved and share your views so we can all support Medics4RD in driving change within the medical profession in terms of rare disease diagnosis. It is an online survey that takes 10 minutes to complete and can be accessed via this link: http://bit.ly/M4RDredflags.

If you need to access the survey in any other format or have any issues don’t hesitate to contact info@m4rd.org.

 

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Findacure Cambridge Rare Disease Showcase

Findacure Cambridge Rare Disease Showcase

by | Jul 21, 2018 | Activities, Community, Events

Findacure’s Annual Cambridge rare disease Showcase is back on 16th August.

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Findacure are also looking for daring individuals to take on their infamous five-minute lightning talk challenge. If you have an exciting project to announce, a personal rare disease experience, or a unique approach to rare disease research, why not share it at their event? Calls for lightning talks are open until Friday 27th July and can be submitted during registration.

Tickets are available now by visiting www.findacure.org.uk/cambridge-showcase and attendance is free to patients, patient groups and charities.

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