Helpline 07939 046 030

Support Specialists Challenges and Ambitions

27 March 2019

Support Specialists

Caroyln Smith

Carolyn Smyth is the new National Lead Nurse at  Nerve Tumours UK. She explains her plans for the role.

I have been a Specialist Advisor since 2000. Unbelievably, I will have been in post for 19 years this November!
I had completed a Genetic Counselling course at Great Ormond Street and I remember applying for my current job and thinking I will have a look through my course work and read up on NF.... there was no mention of it! I looked at the charity website and saw the often quoted NF1 strapline
“Most common, least known genetic condition”. Things have improved  since then, but there is still plenty of work to be done, raising awareness  and improving the lives of those with this condition.

I am very fortunate to have been working with Mel Murrell for the past year (Mel recently featured in the Nerve Tumours UK Magazine). Just to re-cap, I cover Staffordshire, Shropshire and West Midlands, whilst Mel covers Warwickshire, Worcestershire and Herefordshire.

In April, I am looking forward to starting the National Lead Nurse Role at Nerve Tumours UK.

I will split my time between my work as an NF1 Support Specialist based in the West Midlands Clinical Genetics Department, answering the NTUK helpline, and carrying out my role as Lead Nurse.

As with all our jobs,  I will be flexible to cover commitments to NF Clinics, school visits and so forth. It’s an exciting time and there is much work to do!

The challenges in this role are as great as the rewards. I have a special interest in education. I have experienced first-hand what it is like to have a child with a diagnosis of ADHD and Asperger’s. This has given me an insight into the difficulties of negotiating the EHCP (Educational Health Care Plan) and a myriad of other issues associated with Special Needs Education.

Working with families and individuals with NF is a privilege, they continue to inspire me after all these years. If you gave me a magic wand, the first thing I would do is provide clinics and support for adults with NF1 who do not fit into the complex NF1 clinic, but desperately need knowledgeable local NF advice.

"Working with families and individuals with NF is a privilege, they continue to inspire me after all these years"

– Carolyn

Rachel Beaufort- Jones

Rachel Beaufort-Jones is the Support Specialist for the North East and Cumbria. She writes about its challenges.

My name is Rachel Beaufort-Jones and I am a Neurofibromatosis Nurse Specialist.

On Tuesday to Friday I work in Newcastle, when I support and advise individuals who have the condition within the geographical area of the North East and Cumbria. On Monday, my role as an adviser extends nationally and internationally when I work for the Nerve Tumours UK helpline. This is an incredibly important role to fulfil, as for many areas of the UK who are not so fortunate to have access to a Specialist Nurse, the helpline provides specialist support which people would be otherwise lacking within their geographical area.

During the five years I have worked with individuals who have Neurofibromatosis Type 1, I have found that the condition is not understood by the wider community and this includes many health professionals. As such, specialist support is imperative, which in turn improves health outcomes and the independence of those who would otherwise be struggling with managing their condition.

I feel very fortunate to have been given this role as I have the pleasure of connecting with so many remarkable individuals!

"I feel very fortunate to have been given this role as I have the pleasure of connecting with so many remarkable individuals"

– Rachel

Filter News

Filter by Date
Category
Reset

Disclosing and explaining visible differences - CAR Workshop

Read more about the workshop, featuring additional guidance from Specialist NF Nurse Rebecca Rennison

Read More

Jo Ward’s Avastin Blog

Jo Ward, CEO of NF2 BioSolutions UK, shares a blog about her son Oscar's Avastin journey

Read More

Nigel’s story - Normal is as normal does

Nigel lived a normal life until age 47. The next 20 years took him from NF1 to NF2 to Schwannomatosis to mosaic NF2

Read More

World Mental Health Day 2023

NTUK (as part of the Neurological Alliance) has signed a joint letter aimed at improving access to mental health services

Read More

CAR Research visible difference experiences during recruitment

Research participants required, find out more and take part

Read More

NF Academy 2023 - Ella’s Blog

Ella, who has NF1, attended the week-long 2023 NF Academy in Portugal, meeting young adults with NF from all over Europe

Read More

University of Manchester Research

Read about the latest PHD research, involving Nerve Tumours UK, at the University of Manchester

Read More

New Research Study for Children and Young People with NF1

Find out more about the study and how you can participate here

Read More

Neurofibromatosis Type 2 name change

The new name for Neurofibromatosis Type 2 is NF2-related-Schwannomatosis (NF2)

Read More

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