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Rare Disease Day 2023

02 March 2023

Nerve Tumours UK joined in with Rare Disease Day, an annual international event aimed at raising awareness and highlighting the needs of people with rare conditions, at various events across the nation. There are over 6000 rare conditions affecting more than 3.5 million people across the UK. Collectively, rare conditions are not rare. The theme for this year is improving care co-ordination. We heard examples from each nation, of how care coordination works for people with rare conditions, and the what the plans are to improve care coordination across the UK under the UK Rare Disease Framework. 

Westminster Rare Disease Day Reception 2023 

Members of the NTUK head office team joined forces with other members of the rare disease community to raise awareness of the common issues affecting those living with rare conditions, at a reception hosted by Liz Twist, MP and Chair, Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions.

#RAREAPPG #CareForRare 

Speakers on the day were: 

Helen Whately, Minister for Social Care

announced the launch of the second Action Plan to implement the UK Rare Diseases Framework in England. Second iterations of the devolved administrations’ action plans are expected throughout the year.

UK Rare Diseases Framework

Louise Fish, CEO, Genetic Alliance UK

spoke about the Genetic Alliance UK report "Co-ordinating Care: Learning from the experiences of people living with rare conditions"

Blessing Abdul, Care Coordination Report Contributor

shared her experience of care coordination for sickle cell disease and a rare lymphoma

After the speeches, there was the opportunity to network with fellow charities, and their respective Constituency MP's, who had also been invited to the event.

Read the Report 

The Genetic Alliance UK has worked with its members including NTUK to demonstrate the value of care coordination and the impact of its absence. The benefits of care coordination are clear for people living with rare conditions and their carers, parents or relatives, for healthcare professionals, but also much more broadly for healthcare budgets, and providers of services outside of the healthcare environment. 

https://geneticalliance.org.uk/wp-content/uploads/2023/02/ONLINE-Coordinating-Care-Report-2023.pdf#

We were joined by our local MP Stephen Hammond, Member of Parliament for Wimbledon, who was supporting the Nerve Tumours Community across the nation as part of the All Party Parliamentary Group at the event

Additionally we met Dr Holly Walton & researchers who compiled the Care Co-ordination Report

Coordinated Care of Rare Diseases, which we supported and shared with the community

CONCORD study

Liz Twist, MP, joins the Nerve Tumours UK Team

Rare Disease Day 2023 - Newcastle

Jo Elson, one of our NF awareness campaigners who has NF Type 1, and Rebecca Renisson, one of our Specialist Neurofibromatosis Nurses, based at the Genetics Institute at the Centre for Life in Newcastle attended the recent International Rare Disease Day 2023 held at the Discovery Museum in Newcastle. The Museum is an iconic building in Newcastle which was opened in 1899. Organisers were initially concerned about attendence as Rebecca noted, 

"I think organisers were a little concerned , it certainly crossed my mind about attendance, as Newcastle FC were playing Manchester Utd at Wembley on the same day. We were very wrong. There was a great cross selection of attendees: students, professionals and young people; there was a great range of ages and backgrounds."

There was also a great deal of interest about Neurofibromatosis. Joanna was also able to discuss her patient journey: read her story (https://nervetumours.org.uk/news/joannas-story). The ladies were also very privileged to be joined at our table by one of our NF1 adult patients, who also gave an update of her patient journey, and how the condition affects her. 

Joanna said, "The other patient that joined us said that they found it very positive being able to talk with members of the public about her experiences. Besides raising awareness and sharing my patient journey with her I was also interested to see how she felt about her risk of MPNST and the poor outcomes from this diagnosis. I was talking about this to a specialist nurse from Guys (in a group context) at a recent event and I mentioned that my view was that rare disease patients were more robust than perhaps they thought. This for me chimed with this… " 

Jo Elson (left) and Rebecca Rennison (right)

Following on from the Rare Disease Day reception in Westminster, we also joined a virtual UK-wide meeting " The Rare Disease Day Joint Nation Event" organised by the Genetic Alliance UK, to bring together the rare diseases community on 2nd March 2023. The meeting was attended by 70 plus attendees reflecting on available care in England, Wales, Scotland and Northern Ireland. 

We’re pleased to see actions on care coordination in the newly launched English action plan and hope to see progress in all four nations on this crucial topic. Genetic Alliance UK will be disseminating the report through the All Party Parliamentary Group and Cross Party Groups in Scotland and Wales on Rare Genetic and Undiagnosed Conditions. The meeting was attended with key implementation partners in each region to ensure that new activities to deliver care coordination take account of the domains of value demonstrated by this report.

Coordinating Care Across all Nations 

Scotland: Scottish Government Rare Disease Team is giving an update on care coordination in Scotland Dr Martina Rodie, Office for Rare Conditions, is giving an update on care coordination in Scotland 

Northern Ireland: Patrick Toland, Chief Executive, Northern Ireland Rare Disease Partnership and sharing their Rare Disease Day video 

Wales: Lucy Dixon, PCD Support UK Rhiannon Edwards, Coordinator of Rare Disease Implementation Group James Ingram, Director of Scienap 

England: Karen, Alex TLC, is sharing her experience of care coordination and transition to adult services for her son. Department for Health and Social Care will give an update on care coordination in England

Thank you to the Genetic Alliance UK, Liz Twist MP and everyone raising the flag for those affected with Nerve Tumours. 

Masterclasses in NF: Constitutional Mismatch Repair Deficiency Syndrome as Differential Diagnosis to NF1/Legius Syndrome - Prof. Dr. Katharina Wimmer

Constitutional Mismatch Repair Deficiency Syndrome as Differential Diagnosis to NF1/Legius Syndrome

Prof. Dr. Katharina Wimmer, Medical University of Innsbruck

Masterclasses in NF: Rare NF1-Associated Tumors in Adults - Eric Legius & Prof. Ellen Denayer

Masterclasses in NF: Rare NF1-Associated Tumors in Adults

Eric Legius, MD, PhD, University Hospital Leuven

Prof. Ellen Denayer, University Hospital Leuven

Masterclasses in NF: Optimising Hearing Outcomes in NF2-Related Schwannomatosis - Simon Freeman

Masterclasses in NF: Optimising Hearing Outcomes in NF2-Related Schwannomatosis

Simon Freeman, MPhil FRCS, Manchester Royal Infirmary and Salford Royal Hospital

Masterclasses in NF: NF1 Dermatological Manifestations - Pierre Wolkenstein, Laura Fertitta & Sirkku Peltonen

Masterclasses in NF: NF1 Dermatological Manifestations

Pierre Wolkenstein, MD, PhD, Hopital Henri-Mondor, Paris, France

Laura Fertitta, MD, Hôpital Universitaire Henri Mondor

Sirkku Peltonen, MD, PhD, University of Gothenberg, Sweden

Masterclasses in NF: Breast Cancer in NF1 - Gareth Evans

Masterclasses in NF: Breast Cancer in NF1

Gareth Evans, MD, University of Manchester, UK

Masterclasses in NF: Pain in Non-NF2-Related Schwannomatosis - David Pang

Masterclasses in NF: Pain in Non-NF2-Related Schwannomatosis

David Pang, MD, ChB. Guys and St Thomas' Hospital NHS Trust, London

Masterclasses in NF: Distinguishing Non-NF2-Related from NF2-Related Schwannomatosis - Clinical and Genetic Approaches - Said Farschtschi

Masterclasses in NF: Distinguishing Non-NF2-Related from NF2-Related Schwannomatosis - Clinical and Genetic Approaches

Said Farschtschi, MD, University Medical Center, Hamburg-Eppendorf, Germany

Masterclasses in NF: NF1 Pre-Implantation Genetic Diagnosis - Eric Legius & Prof. Ellen Denayer

Masterclasses in NF: NF1 Pre-Implantation Genetic Diagnosis

Eric Legius, MD, PHD, University Hospital of Leuven, Belgium

Prof. Ellen Denayer, University Hospital of Leuven, Belgium

NF2 Working Together: from a tentative diagnosis and beyond

Understanding the impact that a tentative diagnosis has on a parent. Information and access to the existing NTUK and Specialist Nerve Tumours medical and non medical care network.

NF1 Working Together Part 2: from a tentative diagnosis and beyond

Understanding the impact that a tentative diagnosis has on a parent. Information and access to the existing NTUK and Specialist Nerve Tumours medical and non medical care network.

NF1 Working Together Part 1: from a tentative diagnosis and beyond

Understanding  the impact that a tentative diagnosis has on a parent. Information and access to the existing NTUK and Specialist Nerve Tumours medical and non medical care network.

Masterclasses in NF: Surgery in NF2 - Michel Kalamarides & Andrew King

Masterclasses in NF: Surgery in NF2

Michel Kalamarides, MD, PhD, Hôpital Pitié-Salpêtrière, Paris, France

Prof Andrew King, MBBS FRCS FRCS(SN), Salford Royal Hospital, Manchester, United Kingdom. Member of the MAB of Nerve Tumours UK

Masterclasses in NF: Cognition and Behaviour in NF1: Phenotype and Treatment Approaches - Shruti Garg, Andre Rietman

Masterclasses in NF: Cognition and Behaviour in NF1: Phenotype and Treatment Approaches

Dr Shruti Garg, MBBS, MRCPsych, MMedSci, PhD, Royal Manchester Children’s Hospital, United Kingdom. Member of the MAB of Nerve Tumours UK

Andre Rietman, PhD, Erasmus University Medical Center, Rotterdam, Netherlands

Masterclasses in NF: Emotional Challenges in NF1, NF2 and Schwannomatosis - Susie Henley, Thomas Pletschko & Verena Rosenmayr

Masterclasses in NF: Emotional Challenges in NF1, NF2 and Schwannomatosis

Susie Henley, DClinPsy, PhD, Guy’s and St Thomas’ NHS Foundation Trust, London UK

Thomas Pletschko, PhD, Medical University of Vienna, Austria

Verena Rosenmayr, Clinical Psychologist, Medical University of Vienna, Austria

Masterclasses in NF: NF1 Pediatric Management - Rianne Oostenbrink

Masterclasses in NF: NF1 Pediatric Management

Rianne Oostenbrink, MD, PhD, Erasmus University Medical Center, Rotterdam, Netherlands

Masterclasses in NF: Associated Glioma in Children - the Optic Pathway and Beyond - Amedeo Azizi

Masterclasses in NF: Associated Glioma in Children - the Optic Pathway and Beyond

Amedeo Azizi, MD, PhD, Head of the Paediatric Neurofibromatosis Program and Paediatric Neuro-Oncology Program, Medical University of Vienna, Austria

Masterclasses in NF: NF1 Orthopedic Manifestations - Eric Legius and Christophe Glorion

Masterclasses in NF: NF1 Orthopedic Manifestations

Eric Legius, MD, PhD. Head of Clinical Genetics Department of the University Hospital Leuven, Belgium

Christophe Glorion, MD, PhD, Department of Paediatric Orthopedic and Traumatologic Surgery, Hopital Necker-Enfants Malades, Paris, France. 

Masterclasses in NF: NF1 Malignant Peripheral Nerve Sheath Tumours - Rosalie Ferner and Viktor-Felix Mautner

Masterclasses in NF: NF1 Malignant Peripheral Nerve Sheath Tumours

Prof Rosalie Ferner, Consultant Neurologist and Lead Clinician for Neurofibromatosis, Guy's and St. Thomas' NHS Foundation Trust, London. Member of the MAB of Nerve Tumours UK and Trustee of Nerve Tumours UK

Viktor-Felix Mautner, MD, PhD. University Medical Centre in Hamburg-Eppendorf, Germany. Head of NF Outpatient Department

Masterclasses in NF - Neurofibromatosis Type 1: Cutaneous Neurofibromas - Pierre Wolkenstein and Sirkku Peltonen

Masterclasses in NF - Neurofibromatosis Type 1: Cutaneous Neurofibromas

Pierre Wolkenstein, MD, PhD. Hopital Henri-Mondor, Paris, France. Head of the Department of Dermatology

Sirkku Peltonen MD, PhD. University of Gothenberg, Sweden. Professor of Dermatology

INFER (International NF Educational Resources) is a series of online educational lectures for medical professionals by leading neurofibromatosis experts. The Masterclasses take place online approximately once a month, each on a different topic, and include real-time interaction between the expert presenter and the participants. The presentations are conducted in English, with real-time audio interpretation available in 6 additional languages: French, German, Italian, Portuguese, Russian, and Spanish. A recording of each INFER masterclass is then be made available online in each language for those who could not attend an event. INFER is an initiative of Children’s Tumor Foundation Europe, supported by an educational grant from AstraZeneca. https://ctfeurope.org/research/masterclasses-in-nf

BPNA Keynote Lecture - Prof Rosalie Ferner - Neurofibromatosis 1 in the 21st Century

‘Neurofibromatosis 1 in the 21st Century’

Keynote Lecture at the 48th British Paediatric Neurology Association Annual Scientific Meeting on 21st January 2022

Prof Rosalie Ferner, Consultant Neurologist and Lead Clinician for Neurofibromatosis, Guy's and St. Thomas' NHS Foundation Trust, London. Member of the MAB of Nerve Tumours UK and Trustee of Nerve Tumours UK