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Summer 2020 RARE Nephrology ​

RARE Nephrology Kidney ​Full issue 

#CKD #Kidney #KidneyDisease #Nehprology #KidneyHealth #WKD2022 

Shared Friday 24th July 2020

Chasing his Cure – Dr David Fajgenbaum is our RARE Inspiration. 

A diagnosis of a rare disease set David Fajgenbaum’s life on a completely new path and what started as a fight to save his own life has turned into so much more than he could ever have imagined. David chronicled his journey in the national bestselling memoir, Chasing My Cure: A Doctor’s Race to Turn Hope Into Action. RARE Revolution had the absolute pleasure of talking to David about his journey, his goals, and how his work in the rare disease community has gone beyond just chasing his cure. 

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Chasing his Cure 

Saturday 25th July 2020 & 3rd August. 

Paediatric nephrology at Birmingham’s Rare Disease Centre 

Dr Larissa Kerecuk is rare disease lead, consultant paediatric nephrologist, Birmingham Womne’s and Children’s NHS Foundation Trust and clinical specialty lead paediatric NIHR CRN (National Institute for Health Research Clinical Research Network) West Midlands. Larissa, who was previously featured as our RARE Inspiration in Summer 2017, provides a wonderful insight into her role as a paediatric nephrologist and her involvement in bringing the voice of young people to the design of the new rare disease centre. 

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Paediatric Nephrology at Birmingham Rare Disease Centre 

Monday 3rd August TW FB/ Thursday 6th August IG 

Birmingham Rare Disease Centre: from both sides now 

Muhammed Azhar talks about his experiences as both a patient and a work experience student at Birmingham Rare Disease Centre. 

Rare Disease Centre – From both sides now 

Tuesday 4th August TW

Co-design of the Rare Disease Centre 

Sabah Jamil explains how the voice of young people was heard throughout the design, build and occupation phase of the new Rare Design Centre, Birmingham, and how this has helped revolutionise the patient experience. 

Co-Design of the rare disease centre 

Shared 14th July 2020: 

You can read all about the brilliant charity helping Mitrofanoff procedure patients in our article Mitrofanoff Support Group: helping children and adults thrive with their new norm. Adapting to the new norm after an invasive surgery can bring practical and emotional challenges. Mitrofanoff Support is a UK-based charity that is helping individuals and carers come to terms with and manage life after a Mitrofanoff procedure. We were delighted to talk with their chair Renee Holmes and their patron, consultant urological surgeon, Dan Wood to learn about their vital work.

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Mitrofanoff Support 

Shared Thursday 23rd July 2020 

Science in a nutshell: Mitrofanoff procedure 

What is a Mitrofanoff procedure? 

The Mitrofanoff is a permanent (or at times semi-permanent) bladder drainage procedure allowing patients to maintain dignity and have no need of an indwelling catheter or stoma bag. 

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Science in a nutshell 

Shared on Wednesday 22nd July 2020

RARE nephrology 

RARE Revolution editor Nicola Miller introduces our specialist section looking at the movers and shakers in the world of RARE nephrology and brings you the latest in research, drug discovery and more.. 

Rare nephrology intro 

Shared Monday 20th July 

The Oxalosis & Hyperoxaluria Foundation 

The OHF are a New York based non-profit who are harnessing the power of a global professional academic community to drive therapies for the hyperoxaluria community and with much in the pipeline the future looks promising. 

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Oxalosis and Hyperoxaluria Foundation 

Shared Friday 31st July 2020

Micheal Mittelman is a three-time kidney transplant recipients who is using his lived experience to fill an identified gap in the transplant pathway – supporting living donors. @mike_mitt

A lasting legacy 

Shared Wednesday 29th JULY FB TW 

Keeping the goal in sight and on the RaDar 

Research registries offer enormous opportunities for clincal research and present a very efficient way of conducting studies. RaDaR (National Registry of Rare Kidney Diseases) is one such registry which currently holds data from over 26,000 patients with rare kidney disease. 

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Keeping the goal in sight and on the Radar 

Shared Wednesday 5th August 2020 TW

Our Story… 

Gordana Loleska, like many parents, knew instinctively not to accept the answers she and her family were given in relation to her son David. Then, a casual conversation with his consultant in an elevator finally led to an unexpected diagnosis of Alport syndrome and answers for David, and the recruitment of another powerhouse mama into the world of rare advocacy. Written by Gordana Loleska. 

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Our story 

Shared Monday 27th July 2020

Men’s Health: 

Tackling male urological health. 

David Rose, business development associate, at RARE Revolution, opens up about the impact of living with chronic kidney disease and associated urological implications which are often hidden but not without big impact on daily life, bearing both a physical and emotional toll. 

Men’s Health 

Sharing Thursday 30th July 2020

Women’s Health: Time to ditch the last taboo 

An interview with Kate Jennings. Here at RARE Rev we are all about people and we pride ourselves on making genuine connections and being a safe pair of hands with people’s, often deeply personal, journeys- a responsibility we take very seriously, and this is particularly important when dealing with issues that many consider taboo! When you start an interview you never know how it is going to go, but the best kind is when before you know it an hour or more has passed and you haven’t even noticed the time go by, and this was how I passed a sunny afternoon talking with, and getting to now Kate Jennings. 

Women’s Health 

Industry Column Jonathan Morton brings us this editions #RAREInsights. 

#RAREInsights ia an extension of our online blog, now with unique in-magazine content. This season’s column is brought to you by returning guest columnist Jonathan Morton of Comradis 

Treating the patient rather than endpoints. 

Industry Insights 

Our Resident Columnist Richard Gelati brings us this editions #RARERamblings.

Richard is a veteran of rare disease having lived with CIDP for nearly 40 years. Richard writes exclusively for RARE Revolution and his column is an insightful and often humorous musing on life with a rare disease. We hope you enjoy his RARE Ramblings! 

‘Cake Crisis’ So here we are, those of us who are shielding because of our rare condition have now been confined indoors for fourteen weeks or more, and at this point many of us are just trying to keep our minds active and avoid becoming a divorce statistic! 

RARE Ramblings 

Our #RARETech columnist Sean Gordon tells us all about Artificial Intelligence, in his article:  Menace or valued tool for rare disease patients? In HBO’s Westworld season three, we are introduced to the artificial intelligence (AI) drive supercomputer Rehoboam which ‘’Collects and synthesises data about everyone in the world, and guides them along a path it chooses’’. This is a familiar role for AI: a malevolent force controlling/destroying mankind – a staple of science fiction. 

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RARE Tech 

The YES Tribe announces The Biggest Book of YES

The third title in the Big Books of Yes series brings you 49 stories of adventure in all its wild, unpredictable forms making this the third year raising vital funds for the rare disease charity Teddington Trust – funding adventures for the Xeroderma pigmentosum community, with adventure stories from the global YesTribe. 

Biggest book of yes 

The RARE Youth Revolution has begun 

RARE Revolution Magazine launch brand new platform for children and young people and announce exciting new partnership with TREND Community. 

The RARE Youth Revolution platform, created by RARE Revolution Magazine, is powering up young voices, to empower a future generation of rare disease advocates and build a cross-condition youth community. In collaboration, TREND Community will apply its social data analytics to turn the stories and conversations shared by the young rare community into data that will revolutionise the way we think about rare disease and help drive change for young people affected by rare disease.

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Rare Youth revolution has begun 

Global Commission progresses technology health pilots to accelerate time to diagnosis for children with a rare disease

The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and the very identity of people affected by a rare disease and their families. 72 per cent of rare diseases are genetic and 70 per cent of those genetic rare diseases start in childhood. Despite advancements in medicine and technology, it can still take an average of five years or longer before a child living with a rare disease is able to receive an accurate diagnosis. 

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Global Commission 

Shared Instagram 14th August 2020

Our RARE Book Review is ‘Chasing My Cure: A Doctor’s Race to Turn Hope Into Action by Dr David Fajgenbaum. It is a compelling story of how one man’s determination to save his own life has turned into something so much bigger. 

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Book review – Chasing my cure 

Putting families and patient groups in the co-pilot seat of drug discovery

Demystifying venture philanthropy in rare disease – how venture philanthropy can be a driving force for rare research and discovery. 

Venture philanthropy (or simply VP) can sound like an odd notion to many of us. When we define it as taking the principles of venture capital and applying them towards philanthropic causes, it usually begets more confusion! When called impact investigating or social investigating, it begins to make a bit more sense but still suggests that it has to deal with the world traders, giving it a sense of unreachability. But this is actually not the case, and many rare disease families would benefit from learning more about this unconventional approach and how to drive their own therapeutic journeys. 

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Shared TW Thursday 6th August 

Covid-19 reshaping the future of clinical trials – Juliet Hulse at Illingworth Research Group explores the threat posed by COVID-19 to global rare disease clinical trial programmes, and the opportunities that may arise from this dynamic global situation.

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Shared Saturday 18th

Rare nephrology: growing momentum in rare kidney disease

Michele Huie is a dedicated team member at Retrophin, a company whose mission is to identify, develop and deliver life-changing therapies to people living with rare disease. The landscape for kidney disease is rapidly changing as Michele explains: 

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Retrophin Michele Huie 

Six in Ten with Lauren Lee 

Lauren Lee executive vice president, stakeholder engagement, NephCure Kidney International, talks about the role of Nephcure Kidney International in driving progress for kidney disease. 

1.Tell me a bit about why NephCure was established and its mission. 

NephCure Kidney International was founded in 2000 by four sets of parents whose children were impacted by nephrotic syndrome. They were looking for answers and ways to help other families facing similar challenges or being diagnosed with a rare kidney disease. Soon after registering the organisation as an official 501c3 (non-profit), a group of them travelled to the National Institutes of Health in Washington DC to seek guidance. It was there that NephCure established itself as a research -focused patient advocacy group focused on expediting treatments to patients living with rare protein-spilling diseases like FSGS, IgAN and other forms of nephrotic syndrome. 

Six in Ten 

Born Fighter 

Marc Coronel had his sights set on becoming a professional boxer. He was well known on the amateur scene and pursuing his dreams with passion when a routine physical examination delivered an unexpected blow that would leave Marc fighting for his life, leaving him down but most certainly not out. 

It was on his 26th birthday, when on the advice of his father, Marc went for a routine physical examination to align with a change in insurance policy. But after he received an unexpected call back. ‘’I was advised that my creatinine levels were elevated, and they wanted to rerun them to check this anomaly,’’ Marc explained. 

Further investigation and a biopsy resulted in a diagnosis of focal segmental glomeruloscerosis (FSFS) kidney disease. Marc was a healthy, active young man at the peak of fitness as an amateur athlete, so the diagnosis came as a shock. ‘’When I look back now I can see there were signs of the disease before this point, but I felt in great shape so overlooked them as being no big deal- frothy urine was something I had experienced for some time, which I no know to be a sign of excessive protein in my urea, also called proteinuria.’’ In time, as his disease progressed, Marc found he had gone from a ‘’fighter fighting a sport, to a fighter fighting for his life’’. 

Marc uses his growing Instagram following and podcast channel to engage others in important discussions around kidney disease and aims to be a beacon of hope for others on a similar journey. Marc wants to ‘change lives, empower people and show others how to harness their own inner strength and vulnerabilities to drive change, whilst learning how to count our daily blessings.’’ 

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Born Fighter 

Rare kidney diseases – the unmet needs

Professor Peter Rutherford is the global medical affairs lead for rare diseases at Vifor Pharma – a global pharmaceuticals company specialising in iron-deficiency, nephrology and cardio-renal therapies. He trained in nephrology in Newcastle, UK and the Yale University School of Medicine, USA, and after a career as a UK consultant nephrologist and NHS trust medical director, he joined the pharma industry in 2007 with Baxter Healthcare in Switzerland. Peter talks to RARE Revolution about the challenges patients with rare kidney diseases (such as ANCA-associated vasculitis) face and how the current COVID-19 pandemic is presenting an unique opportunity to review and alter current processes to streamline the way patients are seen and improve the diagnostic odyssey. 

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