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Charlotte’s Story

20 February 2024

I was referred to the hospital at the age of 6 for a check-up for a completely different reason, after examination/tests it was discovered that myself, Joe aged 4 and my dad aged 39 also had NF1. We were advised to have annual check-ups which included eye test, blood pressure and checks for scoliosis. At the age of 16, we were discharged from the paediatricians and advised to have annual eye test and blood pressure with any other concerns to go to our doctors.  As with a lot of people, we weren’t aware of NF until we were diagnosed.

In 2016, I went to UWE to train to be a primary school teacher. I have danced since the age of 6 doing tap, ballet and modern. I graduated as a teacher and continued with my dancing which included tap and ballet and now take part in weekly adult classes. In 2019, Joe went off to Plymouth University to study Digital Media where he graduated in 2022 and had the most amazing time of his life, which we have since discovered through photos and videos from Joe’s friends. Joe had a job in a local indoor Go-Karting track and laser tag, which he thoroughly enjoyed. As you can see, we were very fortunate and led very normal lives up until last year.

 Before you read our story, we are not doing this to scare people with NF. However, we feel that more awareness MUST be made regarding NF and the complications and devastation it can have on families. Doctors and nurses who have patients with NF need to know what to look out for, they could point patients in the right direction quicker and receive the right treatment.

Joe started having pains in his leg in September 2022 and saw his Dr who advised him to take Ibuprofen. In February 2023, life then changed dramatically for Joe when the pains in his leg started to worsen. He was referred by a physio to get an urgent MRI, which he had on 14th February 2023. Over the month, Joe’s leg pain increased, and he was slowly losing the ability to walk. He needed a walking stick to aid him, and by the end of February he needed a wheelchair to get around when out and about. Joe was on numerous amounts of medication to try and ease the pain, even given medication for Parkinsons to help, but nothing seemed to work. He was in constant extreme pain, day and night. On 3rd March 2023, we were told by the physio the result of the MRI scan and that the pain was due to NF, we just thought it would be a neurofibroma and he would be seen, and Joe would be helped. Joe’s pain continued to get worse over the weeks and after numerous visits to A&E, several referrals, an urgent referral to the neuro team and trying different medications, nothing was done.

From March, my mum Kate was so concerned as Joe was so unwell and he could only walk a short distance with a stick, she begged constantly for an appointment with the Neuro team as nothing was being done from each referral. We were finally given a cancellation appointment for 6th April, with the Neuro team and NF specialists at our local hospital, where we were told that Joe had an 18cm tumour in his pelvis. Doctors said, considering the size of the tumour an urgent biopsy would be needed to determine whether it is malignant or not. Joe had to wait 6 weeks for this biopsy! Joe was admitted to hospital in May to have the biopsy and was also advised to have a PET scan. 

Following Joe’s PET scan and biopsy on 17th May, we were told that the tumour was malignant, and Joe was diagnosed with Malignant Peripheral Nerve Sheath Tumour (a rare and aggressive sarcoma). The following week we were told that Joe’s cancer was treatable but not curable as the cancer had spread to behind his lungs- he would start chemotherapy in two weeks’ time. The week Joe was due to start chemo, mum couldn’t wake Joe up. She phoned up St Peter’s Hospice, where they advised to ring 999 immediately. Within 10 minutes the ambulance arrived. They did observations on Joe and took him into hospital. Following this, my parents were told that Joe was extremely unwell and was now on end-of-life care. This being only 5 weeks after diagnosis. Joe was kept as comfortable as possible during his last few days in hospital. Joe sadly passed away on 22nd June aged 22. 

We have since learned that the Neuro team and NF specialists at our local hospital had never seen a case like Joe’s in that no one had presented to them with a Malignant Peripheral Nerve Sheath Tumour, being that it is so rare, but it can happen, awareness is so very important. 

Prior to Joe’s diagnosis, I wanted to give and raise more awareness, so in May 2023, also NF awareness month, I took part in the ‘Shine a light Marathon’ and walked 26.5 miles for the 26,500 people affected by Neurofibromatosis (NF) in the UK.

'I hoped to raise awareness of NF and raise money for Nerve Tumours UK (NTUK) and to hopefully get funding to get more Specialist NF Nurses and educate GPs on signs to look out for in NF patients. I managed to raise just over £1500!'

I made a promise to my little brother that I would try and spread as much awareness as I could about this condition. This has had such a devastating affect on our family. Even from this, if one more person is made aware that would be life changing. Since May 2023, we have managed to raise just under £4000 for NTUK.

This May, my auntie and I will be taking part in the Bristol 10k and raising money for NTUK in memory of Joe.

Charlotte's story was also published by her local community paper - click the link below and scroll to page 11 

Share YOUR story for Rare Disease Day 

Nerve Tumours UK joined in this year's Rare Disease Day theme -"Facts behind the Stories", and highlights the diverse outcomes and impacts that NF can have on each individual and their loved ones.  Follow in Charlotte's footsteps and share YOUR story by emailing info@nervetumours.org.uk. 

This is one of the stories that we have received for Rare Disease 29.02.2024 Day 2024. Help us make #MakeNFVisible.

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