Helpline 07939 046 030
Freephone 0300 102 17 22*

Simon’s Story

06 June 2019

Simon's Story

My name is Simon, I am 25 years old and my NF2 journey started back in 2013, it was one of my darkest times. It was a normal summers day in July 2013 and I had gone on a bike ride with my Auntie. I love cycling, the freedom of being outdoors in the fresh air. For some reason on this day I was having problems riding my bike, the track was narrow, and I was finding it hard to keep the bike upright.

I fell off it a couple of times, once landing in a bed of nettles. I started getting hot and sweaty and not feeling too good, I called it a day with the cycling and headed home. My mum made me an appointment to see my GP. The GP couldn’t find anything in particular wrong, but had concerns about my balance, so asked my mum to take me to A & E to be checked over.

While in A & E they took blood & urine samples but could not figure out what was going on, at one stage the doctor told my mum she thought I was taking drugs!

My mum dismissed this straight away.

Finally, they said they wanted to do a CT Scan, that was the start of my roller coaster ride. Within 20 minutes of having the scan the hospital were arranging for me to be transferred to Salford Royal Hospital and we were told the unbelievable news that I had a brain tumour.

Everything moved really fast, I was so scared, my mum was trying her best not to upset me, but I knew things were not good and that I was really sick. The next day at Salford Royal I had loads of tests, MRI Scans etc, I was really frightened at what was happening to me. In the afternoon we met with Prof King and his team and we were told I had 2 brain tumours (one on either side) sitting on my balance nerves and that he was almost 100% sure it was a condition called NF2.

Both tumours were large, and he would need to remove one of them as soon as possible or I would be in danger of losing my life. This was a Friday afternoon‬, I was allowed to go home for the weekend and was told my surgery would take place first thing Monday morning‬.‬‬‬‬ The weekend went so quickly, my mum & Aunt took me back early Monday morning‬ ready for the operation that would change my way of life forever.‬‬

I told my mum “please don’t let me die”. I was in surgery for 10 hours. Fortunately, they managed to remove all of my tumour on my right side. The next couple of days were a bit blurry, I was scared to look at myself, my mum took pictures of me to see, and apart from the bandage round my head I looked normal. After a couple of days, I was trying to walk up & down the ward a little bit, it was difficult to get my balance and I was stumbling quite a lot but was determined I would do it so I could go home. On the Friday (just 5 days after surgery) I was discharged, and it was so good to be outside in the fresh air.

Everything moved really fast, I was so scared, my mum was trying her best not to upset me, but I knew things were not good and that I was really sick. The next day at Salford Royal I had loads of tests, MRI Scans etc, I was really frightened at what was happening to me. In the afternoon we met with Prof King and his team and we were told I had 2 brain tumours (one on either side) sitting on my balance nerves and that he was almost 100% sure it was a condition called NF2.

Both tumours were large, and he would need to remove one of them as soon as possible or I would be in danger of losing my life. This was a Friday afternoon‬, I was allowed to go home for the weekend and was told my surgery would take place first thing Monday morning‬.‬‬‬‬ The weekend went so quickly, my mum & Aunt took me back early Monday morning‬ ready for the operation that would change my way of life forever.‬‬

I told my mum “please don’t let me die”. I was in surgery for 10 hours. Fortunately, they managed to remove all of my tumour on my right side. The next couple of days were a bit blurry, I was scared to look at myself, my mum took pictures of me to see, and apart from the bandage round my head I looked normal. After a couple of days, I was trying to walk up & down the ward a little bit, it was difficult to get my balance and I was stumbling quite a lot but was determined I would do it so I could go home. On the Friday (just 5 days after surgery) I was discharged, and it was so good to be outside in the fresh air.

"Despite it all, I am fighting back"

– Simon

While at home I started to get very depressed, didn’t want to go outside, didn’t want anyone knowing what was wrong with me, started keeping myself to myself. I no longer felt safe on my own, found it hard working out where sounds were coming from and found even the simplest of tasks hard to do. My mum arranged a little holiday for us so we could get away for a little while, on the morning we were supposed to go I woke up and felt strange, there was liquid dripping from my wound. My mum took me straight to A & E, within minutes of arriving there they had us in an ambulance and en-route back to Salford Royal Hospital.

I had a CSF leak and needed to go back for more surgery.

The wound had become infected, it had to be re-opened and cleaned, I had to have a lumbar drain fitted for over a week and I had to stay in bed and try to keep as still as I possibly could. I was finally allowed back home but had to have a Mid Line fitted into my arm and over the next 2 weeks had to have the District Nurse visit twice daily to give me IV anti-biotics.

In 2014 I had to go back to the hospital for another MRI Scan, hearing tests, balance tests etc, it was then I got the devastating news that my remaining brain tumour had grown, it was like we had stepped back again. I was told I could go onto a drug called Avastin, which is used to inhibit the growth of tumours by blocking their blood supply, at this stage I was willing to try anything because I knew if I had to have the other tumour removed I would become completely deaf and have real problems with my balance. I started the Avastin in May 2014 at The Christie Hospital in Manchester, at first it was every 2 weeks, then it went to every 4 weeks. The treatment was via IV and took around 1 hour to have. The treatment makes me very tired; I would come home and sleep the days away.

The treatment’s been working well for me, at one stage my tumour started to shrink, then it started growing again, every time I have to go for MRI scans I feel sick waiting to find out what’s happening this time. After 3 years on treatment my veins finally gave up and I have had to have an internal port fitted, I was very scared of having the port fitted but when I look now I should have done it a long time ago because it makes my treatment less painful.

Nothing in my life is the same, I don’t ever go out on my own, lost all my confidence, don’t know how I would manage without my Mum.

My condition makes me so tired, I find it hard to concentrate on anything for more than a few minutes. I have tried cycling again but it is so hard keeping my balance.

Despite it all, I am fighting back. I’ve taken part in 2 charity events, I did a fire walk in 2016 and this year I did a zip slide for the Christie based in Manchester for all there care I receive when having treatment.  I am now supporting NF2 BioSolutions in their attempt to find a cure for NF2 via gene therapy.

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