Sarah Leiter – paralympic sport, patient care and personal growth

Sarah Leiter – paralympic sport, patient care and personal growth

Sarah Leiter - Women Ahead Of Their Time

Sarah Leiter

Paralympic sport, patient care, and personal growth

Playing a Paralympic sport for Britain, and learning the hard way how to deal with setbacks, have helped Sarah achieve her ambition of becoming a doctor, despite having a rare eye disease.

She was born with albinism, which left her with only ten per cent of normal vision, and affects just one person in every seventeen thousand.  But it was a condition Sarah was determined she wouldn’t let beat her.

‘I just never let it become an issue’, she says. ‘I knew what I wanted to do, and I was going to do it.’

Sarah was born and grew up in Germany, and remembers the age of 11 bringing a formative moment in her life.

‘I was on a family bike ride through some woods and it was all sunshine and shade, which is about as bad for my vision as it gets. I was at the back, with my dad, and getting frustrated at having to go so slowly. So I asked him why it was that I had albinism, and my brother Constantin didn’t.’

‘He’s a doctor, and explained to me about genetics, which immediately fascinated me. I went from being cross to thinking how interesting genes and hereditary illnesses were, and that was when I decided I wanted to be a doctor.’

Her parents supported her to fulfil her ambition with her visual impairment, by buying special equipment, such as a video camera linked to a laptop, so she could zoom in the image and see the board clearly.

Unusually for a schoolgirl, she also learned how to touch type, so she didn’t miss taking important notes.

‘I liked maths and science at school”, she says. ‘I had an inquisitive mind and I liked to know how things worked, which I think fed into wanting to be a doctor.’

But school was proving unfulfilling for Sarah. ‘It wasn’t challenging enough’, she recalls. ‘There wasn’t enough intellectual curiosity around me.’

That unhappiness was spotted by a teacher, who suggested to Sarah’s parents that she might do better at a boarding school in England. She already knew the country, as she had spent summers learning English there.

‘When Mum and Dad suggested it, I said yes immediately. I really liked it there, and thought I would learn much more than in Germany.’

With her father Sarah visited four schools, decided on Lancing College in Sussex, and was accepted. ‘I knew it was a big decision, and it was a bit daunting, but it was the best I ever made from a schooling point of view. I just knew it was the right way to go, so I went for it.’

Alongside her studies, Sarah took up outdoor sports like sailing and running. And she began working with disabled children.

‘That gave me great joy’, she says. It felt so good to make them happy. I know how they can feel isolated, because Constantin has autism and he can be lonely sometimes. One girl suffered terrible anxiety, but all I had to do was rub her back to calm her and make her smile. I’ll never forget what that meant, both to her and me.’

Happy in her new world, Sarah continued her pursuit of becoming a doctor, studying maths, physics, chemistry and biology at A level. It was a big workload, but she had a strategy to deal with it. ‘I was extremely organised and diligent, and made sure I did everything that was asked of me. I didn’t allow my visual impairment to become an issue.’

She impressed at A level and, beating intense competition, won a place at Newnham College, Cambridge, to study medicine.

‘It was an easy transition because I loved it straight away. I loved the city and made some great friends. They were so hardworking, determined, clever, and interested in life, and that was just what I wanted.’

But soon came a setback. Within only months of arriving in Cambridge, when it seemed life was going so well, Sarah failed a mock exam, in anatomy.

‘All you can do is accept something like that and learn from it”, she says thoughtfully, remembering how she coped in an environment where failure is rare. ‘You have to look at what went wrong, and how to deal with it.’

‘I realised I couldn’t just expect everything I was being taught to sink in. The medicine course at Cambridge is too intensive for that. I had to learn how to revise properly. To keep going back over the work, summarise it again and again, until it was really embedded in my mind. In a way I was lucky, because it was just the right time to learn that lesson.’

Lesson learnt, and her studies now back on track, Sarah was surprised to find a new and unexpected adventure in her life. The year was 2012 and she was inspired by the London Olympics and Paralympics to take up a team sport, something she had never done before.

‘With my eyesight, I thought it would be impossible. It just hadn’t been an option. But then I saw goalball and I just had to give it a try.’

The sport is designed specifically for visually impaired people. Teams of three compete to throw a ball, embedded with a bell, into their opponents’ goal.

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 3

‘I fell in love with it”, Sarah says. “The people, the social life, it was all so new and it was brilliant. It’s a tactical and physical game, so it’s good for your mind and body as well.’

She had only been playing for a few months when Sarah was invited to a national talent spotting day. Three weeks later, she was playing in the Great Britain Development Squad, a feeder for the first team, and finding the sport brought unexpected benefits.

‘I surprised myself because I had what I wanted academically, but I had never seen myself as an athlete. It was a new world, made me fitter and stronger, and much more open about my visual impairment. It gave me the confidence to accept it as part of who I am.’

Sarah continued to play goalball alongside completing her medical studies. And the sport helped her to deal with a problem she had never suffered before.

‘Experiments can go wrong for months, or a whole year even when you’re in the labs. And it’s so frustrating. You have to find real resilience inside yourself. But goalball helped as it made me switch off from my problems. Having a support network of good friends and family around me was also important, as was my Christian faith.’

Sarah refused to give up, worked through her problems in the labs, completed her studies, and became a junior doctor at Addenbrooke’s Hospital in Cambridge.

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 5

‘The first week was terrifying. You were taking responsibility for people’s lives, and you really feel that. Working in a team helps, as you have to support each other. And knowing you’re doing your best is important, too. As is humility.’

‘You’ll never be perfect. You’ll make the wrong decisions sometimes. Everyone does. It’s part of being human. But you need to have tried your best. It’s all you can do.’

And Sarah’s final words of advice for getting on in life, as she continues to tend to her patients on the hospital wards, alongside playing goalball?

‘If you want to do something, go for it. Don’t let anyone else say no. Be honest about your struggles, don’t try to hide them, but don’t give up. And know where your strength comes from, because that’s different for everyone and so important to help you on your way.’

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 7

Story was written by Simon Hall.

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PMEA 2019 winners announced

PMEA 2019 winners announced

PMLiVE’s annual PMEAs, now in its 19th year, had its highest number of entries yet, with the largest range of companies entering the competition in almost two decades. This was reflected in the number of attendees at the event, with an impressive 430+ industry professionals present on the night.
Keynote Speaker Mark Ormrod, an ex-Royal Marine, Invictus Games competitor and author, kicked off the night with a moving and inspiring view of his life since being injured. The main awards ceremony was hosted by broadcaster and presenter Fergus Walsh, who caught everyone’s attention with images of his brain scans!
There were a total of 15 categories this year – the entry criteria and categories are reviewed each year to reflect the ongoing changes in the dynamic healthcare landscape.
In addition to the main categories, there was also a surprise award this year, The Judges’ Special Recognition Award, which reflected the impressively high standards of the entries received.
A brand new category was also introduced for 2019, Excellence in Pharma Brand Management.
Taking home this award was Takeda and Uptake Strategies for ENTYVIO’s Brand Healing, which positively impacted thousands of Ulcerative Colitis and Crohn’s Disease patients across the UK, thanks to an innovative brand strategy.
According to the PMEA judges, this entry “had impressive research, objectives and evaluation and was very impressive throughout. It has classically constructed market insights, converted into brand actions that follow the immutable laws of marketing with a single minded goal.”
As well as taking home this new award, Takeda had an impressive night, culminating in winning the coveted Lucid Group Award for Company of the Year. Takeda also won in three other categories: Excellence in Collaboration and Partnerships for A Gut Reaction with support from IQVIA, Excellence in Patient Education and Support for NINLARO Patient Support Programme with support from Apodi, and Excellence in Product Introductions for ALUNBRIG with support from Rock Unlimited.
The judges commented: “Takeda is an extremely impressive operation with a fantastic team ethos. The company is forward thinking, leads from the front, exemplifies its values and has an impressive list of achievements while successfully navigating a sizeable integration.”
Also shining on the night was Takeda Pharmaceuticals Europe/EUCAN, with support from Ashfield Insight & Performance and Ashfield Healthcare Communications, which took home the award for Excellence in Capability Development for their innovative campaign, A Fresh Approach to Data Training for MSLs.
The PMEA judges said: “This training programme for MSLs is creative and innovative in its approach to training, such as an escape room, theatre and speed dating. It has clear metrics set from the beginning, which are measured and well researched.”
A big surprise on the night was the Judges’ Special Recognition Award, which recognised two stand-out entries for their impressive work in the industry.
Dr Paul Stuart-Kregor, PMEA chair of judges, said: “This year, the judges decided that they wanted to recognise two particular entries that stood out as interesting, fresh and different. Both these entries had great merit beyond the criteria for the categories in which they were entered. They both demonstrated breakthrough thinking and facilitate hope for future care.”
The two winners of this impressive award were Cambridge Rare Disease Network and Havas Life Medicom for their entry RAREfest, and King’s College London and Four Health for the GLAD I Took Part campaign.
A consistent favourite among the audience is the PMEA Support Agency of the Year. Any healthcare agency, consultancy or group working in global, European or UK healthcare environment that provides a support service to pharmaceutical company clients can enter this category.
In the running for this prestigious award were 90TEN, Brandcast Health, Excerpta Medica, Havas Life Medicom, Makara Health Communications and McCann Health Medical Communications.
However, only one could take home the prize, and 90TEN was ultimately crowned Support Agency of the Year.
The judges commented that 90TEN “is creative, energetic and has strong relationships with its pharma clients, delivering on some high profile, creative campaigns”.
With the celebrations continuing into the early hours of the morning, and attendees networking and living it up on the dance floor, the evening was a definite success!
The full PMEA 2019 results can be viewed here.
Spirit of Stephen Hawking evoked by RAREsummit 2019

Spirit of Stephen Hawking evoked by RAREsummit 2019

Spirit of Stephen Hawking evoked by Cambridge rare disease summit | Business Weekly | Technology News | Business news | Cambridge and the East of England
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14 August, 2019 - 11:59 By Kate Sweeney

Spirit of Stephen Hawking evoked by Cambridge rare disease summit

Cambridge Rare Disease Network - Spirit of Stephen Hawking evoked by RAREsummit 2019 18

Cambridge Rare Disease Network is gearing up for its 4th RAREsummit on September 23 at the Wellcome Genome Campus and excitement is building for what promises to be an innovative event challenging the status quo. 

The organisers don’t do things by halves and from the outset have provided a platform for an impressive collection of hard-hitting speakers from the Cambridge Cluster and University alongside European and US experts.

The late Professor Stephen Hawking, Cambridge’s best-known rare disease advocate, shared his own personal story at the inaugural Cambridge Rare Disease Summit. Professor Hawking was diagnosed with motor neuron disease at 21 and was told science had no answers.

He went on to live a long and productive life with the support of medical and technological advances and Cambridge Rare Disease Summits continue to drill down into how to make this a reality for all 3.5 million Britons affected by rare disease. 

With more than 7000 rare diseases already identified, we each face a one in 17 chance of developing one during our lifetime yet, disturbingly, only five per cent of these have an approved treatment.

Recent advances in genetics, genomic medicine and technologies – such as gene-editing and CRISPR – mean that scientists are better placed than ever before to diagnose, treat and potentially cure rare genetic disorders. 

Likewise, assistive technologies are improving accessibility and independence and Artificial Intelligence is opening up new opportunities for faster and cheaper therapeutic possibilities. 

This year’s RAREsummit will be true to form with a selection of high calibre speakers. Dr Jonathan Milner, co-founder and deputy chairman of Abcam and biotech entrepreneur, will deliver the welcome address.

A keen supporter of CRDN and its ambitions from the outset, he has been involved as a speaker, company sponsor, a significant donor through his foundation The Evolution Education Trust, and most recently joined CRDN’s board of trustees.

Joining Jonathan on stage are Cambridge healthcare pioneers Dr Andy Richards and Dr David Brown, co-founder and chair of rare disease drug-repurposing company Healx. They will share their vision of 21st century digital health where technologies empower patients to manage their own health, find treatments and be connected. 

Local pharmaceutical company representatives Steve Rees of AstraZeneca and Neil Dugdale of Sobi, a pioneering Granta Park based orphan drug company, will join leading rare disease patient advocate Dr Nick Sireau, founder of the AKU Society and Findacure  to explore industry & patients’ current views and future vision of the drug development process. 

Seeking to disrupt the ‘them and us’ relationship dynamic, RAREsummit’s  programme will see CEOs of rare disease advocacy groups such as Emily Crossley of Duchene UK and Dr Paul Wicks from PatientLikeMe, share the stage with industry, academia and healthcare experts to showcase drug development, technology and healthcare projects where collaboration with them has prospered. 

The aim of the agenda is to discover more about rare diseases and for each delegate to take home a toolkit of strategies that can be applied to their own working relationships and projects.

CRDN is a charity formed in 2015 as a strategic hub aimed at accelerating scientific, clinical and social innovation towards effective health care for patients affected by rare diseases.

Co-founded by Dr Tim Guilliams, CEO of Healx, CRDN has the same mission to transform the lives of rare disease patients. 

Guilliams says: “There’s already not enough resources, not enough data yet so many challenges that the only way forward is to collaborate.” 

It is this vision which sparked the idea of developing a network complementary to existing organisations such as One Nucleus, Innovation Forum and Cambridge Network – building an active community of individuals, organisations and companies with the collective capacity to unlock the potential within this vibrant hub of biotech and academic excellence for rare disease awareness, scientific progress and cross-sector collaboration. 

At RAREsummmit19, the strength of this initiative and the power of a such a network to drive change will be apparent. The day will close with CRDN putting its mission into practice during a cross-sector team challenge – an opportunity for all involved to have their say on the future of the UK Rare Disease Strategy.

• For more details and to book tickets visit

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RAREfest shines a light on rare disease awareness with innovative new events programme

RAREfest shines a light on rare disease awareness with innovative new events programme


Coming to Cambridge next month, RAREfest is an innovative new event geared towards educating the public about rare diseases through hands-on exhibitions, inspiring performances and talks with expert speakers.

The scale of the issue might surprise you: though individually rare, collectively, rare diseases affect one in 17 people, with over 50% affecting children, 30% of whom heartbreakingly won’t survive past their fifth birthday. Awareness of the support and treatments available to these people is lacking. Within the same survey by OnePoll, it was reported that respondents thought only 38% of rare diseases have no treatment, when in fact 95% of rare diseases have no approved drug treatments. All of this tells us that even now in 2018, rare conditions are still not being diagnosed, treated or supported effectively – and this is where RAREfest comes in.

The event is organised by the Cambridge Rare Disease Network, and aims not just to educate but to engage and empower by showcasing who is doing what to help improve the quality of life of those affected by rare and undiagnosed conditions, bringing together key rare disease stakeholders in a powerful outreach event.

It begins on Friday 30 November with a launch event that will give three speakers the stage: each with a fascinating story to tell – and each with a rare disease. Hear from the first disabled man with muscular dystrophy to lead expeditions to the North and South Pole, plus a performance by a musician whose rare blindness means he memorises all his pieces from Braille, as well as a Cambridge grad living with brittle bone disease, who has taken her stories of living with a rare condition to the BBC Ouch stage and Edinburgh Fringe Festival to give a light-hearted glimpse into her world. Also at the launch event, see actor and documentary presenter Adam Pearson speaking with Dagmar Bennett, a sculptor who created a hyper-realistic bust of him – find out more here.

On Saturday 1 December, the Guildhall will transform into an interactive exhibition, showcasing pioneering science, technology solutions, charities, artists and healthcare teams. Amongst the cutting-edge tech gadgets to try will be Bright Sign’s glove, which can convert sign language into speech; Microsoft’s Torino Project for teaching blind children to code; and ReScape’s Virtual Reality headsets, which help people manage chronic pain and anxiety.

“This is a science, technology and arts festival with a difference”, says Jo Balfour from Cambridge Rare Disease Network. “We hope to share with people some of the innovative and exciting research and projects which are being carried out in Cambridge and beyond. There’ll be hands-on and interactive exhibits, talks from Cambridge experts Dr Giles Yeo and Dr Anna Middleton and others trying to find treatments and cures, cutting-edge technology that helps people live more independent lives, a film festival and artists and charities whose work raises awareness.”

“There’s something for everyone whatever their age – virtual reality,  robots, sculpture, genetics games, microscopes, research into premature ageing and rare eye conditions and much more,” she continues. “Anyone can come along with their family, friends and colleagues to learn, play, listen, discuss and be amazed by this little known area of science and health that affects up to 3.5 million people in the UK.”


Dan Jeffries – A rarity personified

Dan Jeffries – A rarity personified

Dan Jeffries - A Rarity Personified ·
Cambridge Rare Disease Network - Dan Jeffries - A rarity personified 20
Awareness DaysRare Disease Stories

Dan Jeffries – A Rarity Personified

Dan Jeffries with his memoirs

Imagine living with one of the world’s rarest medical conditions, to then discover you have another one… with the unexpected melodramas that are worthy to be in a book. As it happens, Dan Jeffries is one such phenomenon. And yes, he’s even published his own memoirs!

I first came across Dan after he gave a really passionate and rather hilarious presentation at the Cambridge Rare Disease Network (CRDN) Summit last year. It struck me that after everything he’s gone through, he still has an ability to see the lighter side of what were otherwise serious scenarios.

In the build-up to Rare Disease Day (see Rare Disease Day 2018 – Join in and #ShowYourRare), the team and I wanted to show our solidarity with our rare disease comrades by sharing a snapshot of Dan’s unbelievable story.


‘It’s fascinating to be that rare’

At 4-years-old, Dan was diagnosed with a non-hereditary vascular condition called Wyburn-Mason syndrome. He explained this to me as, “…a mass of enlarged blood vessels around my mid-brain.” The consequence is that he’s completely blind in his left eye. His journey to diagnosis and subsequent tribulations are quite extraordinary.

It began with his Dad, partially sighted himself, taking Dan to the opticians as a precaution. Upon observing his eye, the optician exclaimed, “Blimey, what’s this?” He was referred to Bristol Eye Hospital and told it was an arteriovenous malformation, also known as a (take a deep breath) retinoencephalofacial angiomatosis.

As Dan told me, “It’s super rare!” Supposedly, there’s only been 30 reported cases in the last 50 years worldwide, or by Dan’s calculations, “It might only affect around 1 in 70 million people.” Through Facebook, he’s so far managed to find up to six people with the condition but only outside of Europe.


X-ray of Dan Jeffries' left eye
X-ray of Dan’s left eye, showing the arteriovenous malformation (circa 1992)
‘I used to have queues of specialists waiting to see me’

Dan’s case is so unique that when he was 30, the specialist at the eye hospital asked him to volunteer to be ‘diagnosed’ by University students for their final exams. Rather than notice his eye, the first student commented on his, ‘…very large hands, protruding jaw and exposed forehead.’ Subsequent students happened to react in a similar way.

Confused, Dan probed the specialist;

“‘Look, they’re all talking about big hands, large head…I’ve not heard this before!”

The specialist replied, ‘Well, you should go and see a doctor, you might have something called Acromegaly.’”

In the first instance, Dan turned to Google, even though he feels self-diagnosis isn’t necessarily a good thing but, “It’s kind of different when you’re given a specific name for something.” Reading the symptoms, Dan just knew that’s what he had;

“Fatigue, change in facial appearance, loss of libido, gaps in teeth and various other things.”

Acromegaly is caused by a benign (non-cancerous) tumour of the pituitary gland, which causes an excessive release of growth hormone. The hardest part for Dan was to phone his parents and say, “I think I’ve got a brain tumour.” Even his local doctor had to find out how to test for it because, as Dan suggests, “It’s so rare that GPs don’t really know.” His growth hormone and another hormone-type, the insulin-like growth factor-1 (IGF-1) results were off the scale!


‘It was going to be challenging’

The pituitary gland is situated behind the bridge of the nose and at the base of the brain. After several potential set-backs to remove the tumour, not least the blood vessels from his Wyburn-Mason syndrome being in the way and incredibly, the discovery of a leaking heart valve, Dan underwent surgery in November 2007.

He immediately felt different;

“All my family were sat around my bed. I rubbed my hands and for the first time ever they felt dry. I held them up and said, ‘FEEL MY HANDS!’ It was such a revelation for me that I knew the tumour had gone…”


Dan Jeffries before undergoing surgery (November 2007)
Dan before undergoing surgery (November 2007)
‘We didn’t want to panic ourselves’  

The surgeon had reached Dan’s pituitary gland through his nose. Post-operation, he started getting really bad nose bleeds and, ‘…a thin white fluid dripping out of it.’ This was spinal fluid, known as a cerebrospinal fluid leak. Having been sent home from hospital on watch, it wasn’t long before Dan was readmitted with his ‘head on fire’ and sister literally seeing his ‘head throbbing.’ Believe it or not, Dan had only gone and caught meningitis!

After more than two weeks of recovery, including a stint in intensive care, the use of a lumbar drain to release the excessive spinal fluid as well as another operation to seal the hole at the back of his nose, Dan’s transformation was well under way;

“My face started to change, my hands and feet went back to normal. I’d wake up and my bed was soaked through to the mattress where all this excess fluid in my body was draining out. It was amazing…”


‘I knew something wasn’t right but I had no idea what it was’

With hindsight, it was obvious for Dan that something wasn’t right two years prior to his diagnosis of Acromegaly. He put it to me, “People didn’t recognise me anymore because I looked different.” The fact that he had two molar teeth removed because he couldn’t bite down properly should’ve set off alarm bells. “This is what annoys me,” he said, “Departments don’t talk to each other.”

Dan also had to get a ring cut off his finger as his hands grew;

“I just couldn’t take it off but you don’t think, ‘I must have a brain tumour!’ Life doesn’t work like that.”


‘You get dealt hands and you have to play them as best as you can’

Dan told me that it was such a massive relief to eventually be given a diagnosis;

“I always use this line that when the tumour was removed, it was like a plug being lifted from my soul.

When Dan turned 36, someone suggested he should write a book about his journey. Through a kick-starter campaign, he managed to raise £3500 to publish his own memoir, Me, Myself & Eye. Over the following year, Dan was giving interviews to the media and doing book events and signings. It was by this point, The Pituitary Foundation asked him to become a Volunteer Ambassador. He has since gone on to organise the first UK Acromegaly get together, with over 40 people attending. It will be returning again this summer at the Queen Elizabeth Hospital Birmingham.


Dan Jeffries speaking at the Canadian Acromegaly convention
Dan telling his story at the Canadian Acromegaly Convention, a scholarship place he won for his advocacy work (October 2017)

Dan went onto say;

“The most useful thing that specialists and groups want to hear is… the human story. That’s what they want to learn from. All these things I endeavour to do, it’s just to try to make a difference.”

Dan hasn’t let his experiences stop him living the life he wants, using his creative flare to write music and DJ. Most people, as he suggests, ‘…don’t think there’s anything wrong because my conditions are hidden’ and he certainly doesn’t want to be defined by them, either. Yet, after all is said and done, Dan wouldn’t have it any other way;

“If I didn’t have these two rare conditions, I may not have done half of the things I have by now. I see it as a completely mixed blessing… you’ve just got to go with it!”


Me with Dan Jeffries at the CRDN Summit (October 2017)
Me with Dan at the CRDN Summit (October 2017)

On behalf of On The Pulse, I would really like to thank Dan for making this happen and encapsulating what the rare disease community is all about. Dan’s insightful and hilarious memoir, ‘Me, Myself & Eye’ is available to purchase on Amazon and Audible. Keep up to date with Dan’s journey on Facebook and Twitter.

If you have any questions or comments for Dan or ourselves, you can also get in touch with us through Facebook, Twitter or by email at

Take care,

N.b. Images courtesy of Santino Matrundola.

Cover Photo By Daniel Stone|
Branding and web design by Ivil design|
Website development by Html Studio
Copyright © 2017-2022 On The Pulse Consultancy Ltd. All rights reserved.
CRDN2016 Looking to the future where patients and carers are always involved in their care

CRDN2016 Looking to the future where patients and carers are always involved in their care

#CRDN2016 Looking to the future where patients and carers are always involved in their care - Special Needs Jungle

#CRDN2016 Looking to the future where patients and carers are always involved in their care

I spent yesterday in Cambridge at the Cambridge Rare Disease Network Summit 2016. CDRN is run by the amazing Kay Parkinson, who lost her two children to Allström syndrome, whose moving and inspiring story we told recently on SNJ

SNJ was so pleased to have been given a stand at the event, which was a great opportunity to show off our brand new SNJ banner. I was joined by our columnist, Marguerite Haye, and we also gave away lots of our new look SEND Flow Charts which you will be able to download from the site soon.

I hope our involvement in the rare disease agenda will help encourage more medical professionals to see that a child with any medical condition doesn't just have health care needs, but that health, education and social care must be regarded holistically and considered all at the same time.

Marguerite and Tania
Marguerite and Tania

What I think is special about Kay, is that she understands what it is like to be on the receiving end of bad news about your child's health and of poor treatment and she is using her experience to bring together examples of great work, practice and collaboration with the aim of spreading it liberally around so medics and patients working together is the norm.

It was also great to meet one of the team from The Rare Revolution Magazine who featured us in their very first edition, as well as saying hello to Kay, of course

Kay Parkinson & Rebecca Stewart with Tania

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A Practical Parents Workbook for supporting dyslexic learners

Look it's a, with stripes

The doctors of tomorrow are still taught to look for the horses not the zebras, but there is hope in the form of Dr Lucy Mackay of Students for Rare Diseases who are trying to educate medical students that they mustn't forget that sometimes it really is the zebra and they hold events with students to listen to family stories...

When asked what her one wish was, her answer was for every medical student to spend a day walking in the shoes of a family coping with an ongoing, uncommon illness to look at the every day difficulties they face.

These changes towards more collaboration have not come from the medical profession. They have come from patients and carers who have been through trauma and tragedy and decided that things needed to be different. But it was definitely not a career choice.

Doctors and the NHS have traditionally not made it easy. They use complicated language when it would be easy to explain something much more simply. They refer to parents as 'Mum' which puts the parent in their place - you aren't important enough for me to learn or ask your name. They schedule appointments so that it can seem to families like they're at the hospital almost as much as they are at home. The medical profession works for its own convenience, and if you don't receive the appointment letter or your child doesn't fit into a neat box of a simple diagnosis it just isn't flexible enough or, often, caring enough, to help.

The MP who chairs the All Party Parliamentary Group on Rare Diseases, Ben Howlett, noted that patients with rare and undiagnosed diseases face injustice every single day and urged advocates to keep up their efforts, "Patient groups make massive amounts of change."

Ben said some parts of the UK Rare Disease strategy aren't working and is asking people living with rare diseases to send evidence to him of the good, the bad and the ugly.

Ben Howlett
Ben Howlett MP

But there is good - great - work being done, as we have covered before with the amazing Dr Larissa Kerecuk's holistic Rare Disease Children's Clinic being built in Birmingham.

I will leave you with a video Larissa presented and the thought that if one overworked, indomitable doctor can bring resources, funds and people together like this in one city, are there others elsewhere in the country who can do the same -so where let's find them!

Tania Tirraoro

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Cambridge Rare Disease Network – Re-imagining the Patient Journey

Cambridge Rare Disease Network – Re-imagining the Patient Journey

Cambridge Rare Disease Network - Re-Imaginin... - Vasculitis UK

Cambridge Rare Disease Network - Re-Imaginin... - Vasculitis UK

Vasculitis UK

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Cambridge Rare Disease Network - Re-Imagining the Patient Journey

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Suzanne Morris and Lynn Laidlaw have collaborated, using Suzanne's graphic design skills and wonderful artistic vision, to create a patient journey poster submission for the Cambridge Rare Disease Summit this month , in Cambridge at Robinson College, (#CRDN2017). The theme for the summit is “Re-imagining the Patient Journey”. The VUK nomination by Suzanne and Lynn was voted best overall design. 😊 Please follow this link to read more.

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21 August, 2017 - 01:02 By Kate Sweeney

Cambridge initiative to drive rare disease strategy

Rare disease Alastair Kent

Cambridge Rare Disease Network (CRDN) is launching a company forum to bring together stakeholders from across the rare disease community to discuss and tackle some of the biggest challenges facing industry.

By encouraging patients and industry in the rare disease community to collaborate more closely, the forum seeks to raise awareness of the barriers and bottlenecks preventing the development of new treatments and technologies.

The forum intends to initially address two key issues. Firstly, balancing collaboration and healthy competition in developing treatments. Secondly, to address the issue of funding, the possible creation of a UK Rare Disease Fund that pharmaceutical companies and government could contribute to.

The first meeting is due to take place on October 20 and will be led by CRDN chair Alastair Kent (pictured). Guest speaker Dr Jordi Llinares, is head of scientific and regulatory management at the human medicine evaluation division of the European Medicine Agency. 

Cambridge Rare Disease Network was established in 2015 to build a community of people in Cambridge to address the unmet needs in rare disease research and treatment. 

The trustees include some of the UK’s foremost experts in rare diseases, and founding members come from diverse backgrounds in academia, business, healthcare and patient support networks.

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Global Experts in Cambridge Rare Disease Summit

Global Experts in Cambridge Rare Disease Summit

Global experts in Cambridge rare disease summit | Business Weekly | Technology News | Business news | Cambridge and the East of England
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30 September, 2016 - 11:25 By Kate Sweeney

Global experts in Cambridge rare disease summit

cambridge rare disease network

Internationally renowned experts are set to address innovations in the diagnosis and treatment of rare diseases in a Cambridge summit next month.

Cambridge Rare Disease Network (CRDN) has just announced details of its second International Rare Disease Summit – to be held on Tuesday October 25 at Robinson College, Cambridge.

A key event in the rare disease calendar, the summit brings together international leaders and local experts to bridge the gap between academia, healthcare providers, private sector companies, patient support groups and other interested parties. It aims to facilitate cross-stakeholder collaboration known as collective intelligence.

Collective intelligence, the amalgamation of shared thinking and the use of technologies in order to go beyond the capabilities of any individual person, has untapped potential in the field of rare disease and if utilised properly could fast track diagnosis and treatment discoveries.

Avril Daly, vice-president of The European Organisation for Rare Diseases (EURORDIS) will provide the opening keynote speech. She will also lead a pharmaceutical industry round table discussion about the next steps in rare disease drug development, offering private sector companies the chance to collaborate on important areas of unmet medical need.

“Rare diseases do not receive the time and funding they deserve,” said Yann Le Cam, CEO of EURORDIS. “The CRDN summit provides a unique opportunity for the congregation of vital healthcare players.

“We need to find ways of reconciling wider access to orphan medicines with the need to make health systems sustainable. Cross sector dialogue is essential in the quest for improved diagnosis and treatment for rare disease patients.

“It’s vital that we now work together to see these advances make the leap from the lab bench to the bedside resulting in quality of life enhancement.”

One in 17 people will develop a rare disease at some point in their lives – that’s 3.5 million people in the UK alone. Most of these diseases manifest in early childhood and many are life-limiting conditions that can take many years to diagnose.

Brexit uncertainty further adds to the obstacles the rare disease community is facing in Europe; it has given rise to big questions over the funding of treatment for rare diseases.

Kay Parkinson, CEO of CRDN highlights the importance of unity at a time of such uncertainty: “CRDN’s goals for the future definitely include the development of a regional network for rare disease patients so that they have a collective voice as well as bringing pharma companies together. 
“With Brexit it’s even more important that we get a strong voice from companies in the UK working together for the benefits of patients with rare diseases.

“As parent to two children who were given a late diagnosis of the ultra rare  Alström Syndrome, I think it’s crucial to foster dialogue, find solutions and increase awareness of the huge social and therapeutic unmet needs around rare diseases.“

Ben Howlett, chair of All Party Parliamentary Group (APPG) on rare, genetic and un-diagnosed conditions will offer a political perspective in a closing keynote speech at the summit.

“Rare diseases need new thinking,” states Kay Parkinson. “From the point of view of a patient struggling for a diagnosis, the system of seeing your GP and being referred to assorted consultants means the patient is treated as various parts and this misses the whole.

“Rare disease patients just don’t have time on their side for this. Our international summit aims to bring the best minds in the field together so that new solutions can be found and found faster.”

Following the sell-out success of its first summit in 2015, the CRDN is looking forward to hosting key rare disease speakers including Professor Patrick Maxwell, Alastair Kent (Director of Rare Disease UK and Genetic Alliance UK), Karsten Barton (Frambu Centre for Rare Diseases), Daniel Lewi (founder of the Cure and Action for Tay-Sachs Foundation).

Anchored by powerful patient voices, the one-day conference will explore International rare disease innovations, new rare disease initiatives on the horizon, innovations in health and collaborations with pharma.

Tickets can be bought through the CRDN Eventbrite page.

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Can you help harness potential knowledge about genetic intellectual disability?

Can you help harness potential knowledge about genetic intellectual disability?

Can you help harness parental knowledge about genetic intellectual disability? - Special Needs Jungle

Can you help harness parental knowledge about genetic intellectual disability?

When I was at the Cambridge Rare Disease Network Summit the other week, I saw a very interesting presentation that has something of interest for every family of a child with a genetically-derived intellectual disability. This means everything from autism, Down's syndrome, Williams syndrome and many, many other conditions from the rare to the much more frequently occurring.

I was planning to get in touch with IMAGINE ID team but, as it happened, they had also spotted our SNJ stand at the event and beat me to it! IMAGINE ID stands for Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment. It's run by the University of Cambridge, University College London and Cardiff University and focuses on children diagnosed with a genetic condition which affects his/her learning.

They're looking to collect information from over 5,000 families with children aged 4 and over with intellectual disability due to a genetic cause. They hope to learn more about the long-term behaviour and mental health of children and young people from this large group of families. 

A particular benefit for families joining the study is once the DAWBA is completed, they will receive a personalised summary report detailing the child’s strengths and difficulties. This report has proven very useful for hundreds of families so far when applying to specialist services, SEN/EHCP and treatments. 

The research study coordinator, Marie Erwood has written a post for us with more details of the story and how you can get involved.

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A study of intellectual disability, mental health and genetics

 When parents receive a diagnosis of a genetic condition in their child, a frequent next question is “So what does this mean for my child?” One of the most common results of having a genetic condition is some level of intellectual disability, learning problems or developmental delay. While some genetic conditions are very well described and quite a lot is known about them, there are many others which are very rare or newly identified and there is not much information available to help families with the diagnosis and what to expect in the future.

The IMAGINE ID study came about through the researchers’ wish to improve the information available for these families and to see the similarities and differences between different genetic changes. We aim to increase understanding of children and young people with intellectual disability and learn more about the link between behaviour and rare genetic conditions. Our researchers realised that most of the time, parents are those with the most expertise about their children. We want to harness this parental knowledge about their children and collect this information, rather than relying only on clinical observations which may not pick up all the small details about a child’s behaviour outside of a clinic appointment.

What participation entails

We ask parents to complete a questionnaire about their child (ideally on our secure online portal but it can also be done over the phone or in person) which goes into detail about the child’s behaviour and well-being. The questionnaire takes about 3 hours in total but is responsive and can be saved as you go along, so doesn’t have to be completed all in one go. Parents report that they have found this really helpful as it means they can do a bit each day rather than having to set aside a big chunk of time, which can be very difficult. We also ask some families to complete other online assessments (usually dependent on age of the child) and parents can choose whether they want to do this or not.

The other component of the study is a face to face assessment. We invite a limited number of families to take part in this (10 percent of the total participants) and families can decide when they sign up to the study whether they would like to be considered for invitation to this part. Our researchers come to the family home and carry out more in-depth assessments which give us more information about these children and help us to check that the online assessments are giving the same results as an in-person assessment would.

Once the online questionnaire is completed, the research team collects the answers and creates a personalised summary report which we send back to families. The report summarises the answers given in the questionnaire and shows scales to indicate how the child scores in certain areas compared to other children. You can see an example of the report. The report is usually received within 2-4 weeks of completing the assessment and many families have found this really useful when undergoing assessments such as SEN/EHCP, or when speaking to teachers or healthcare workers.

Here are some testimonials provided by families who have taken part in the study so far:

“The format of the questionnaire was so straightforward to follow, allowing me to drop in and out of it as I found the time.” 

“It gives a record of where [name of child] is and how she is now. When I read it in 5 years’ time I can look back at how she was and if things have changed.”

“Amazing – helped in education setting and used in his specialist school. They have looked through it and bits they weren’t aware of or bits I haven’t mentioned have been really informative for them.”

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More families needed

The IMAGINE ID study is led by University of Cambridge, University College London and Cardiff University and has nearly 1000 families recruited already, but is hoping to recruit over 5000 families. We would like to recruit a large number of families with a wide range of ages and genetic conditions so we can try to understand whether different types of genetic changes have similar outcomes, to what extent environment plays a part in a child’s development and behaviour, and what families might expect as their child grows up.

How to take part

The IMAGINE ID study is funded by the Medical Research Council and is running until 2019. To take part in the study, children should be over 4 and have intellectual disability, learning difficulty or developmental delay that has a genetic cause. All Regional Genetics Centres in England, Wales and Scotland are recruiting families to IMAGINE ID, so if you are interested you can either contact your Genetics Centre or get in touch with the IMAGINE ID team directly by email on or telephone 01223 254631. We are very happy to answer any questions or queries you have. You can also follow us on Twitter and Facebook or for more information, go to our website,

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Tania Tirraoro

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