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Johnathan’s story

22 January 2024

Johnathan was diagnosed with Neurofibromatosis Type 1 in the early 1990’s, when he was around 3 years old, after his mother noticed café au lait patches beginning to appear on his body. 

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Later on, as Johnathan attended pre-school, behavioural problems were observed, and it was discovered that Johnathan had learning difficulties. From here, he had regular visits with the paediatrics team at the local hospital, and the occasional MRI, but no specialist input – things are very different now, to say the least! As time went on, it would be discovered that Johnathan’s NF was a “random mutation” in his genetic makeup, that is to say there was no known family history.

Johnathan was a really happy, but mischievous, child known for his love of Thomas the Tank Engine. When he wasn’t attempting to escape the house and scale the garden walls, he would sit watching Thomas the Tank, operating the video controls with his toes. He was a very difficult boy to entertain, as he would bore easily… that is, until his little brother, Michael, came along. With a year and a half between them, they became inseparable, and Johnathan became Michael’s biggest protector, always gentle and loving, whilst Michael became Johnathan’s biggest fan. Another sibling came along when Johnathan was 4, this time a little sister, Nicole, and once again Johnathan doted on his younger sibling, taking lead in playtime and helping explore the outside – especially when it snowed. Johnathan once got chill blains from spending too much time outside making snowballs and sledding down the local field hills. His hands were red for days but he made no complaints – his parents were unsure if he was even in any pain, something that became a noted regularity. Finally, some years later, Johnathan was given another little sister and, with 10 years between them, Johnathan took on more of a caring role than a sibling/friend role, showering Chloe with affection and always comforting her when she cried.

As Johnathan grew in to a young adult, he showed a fondness for music, piano and guitar specifically, but was too impatient to read music. It seemed that Johnathan had a gift for ‘playing by ear’ and would be able to reproduce a piece of music, note for note, even if it were played on a different instrument, without ever having seen a sheet of music for it. Johnathan was showing a real interest in independence – something medical professionals advised would never be possible. So, naturally, we supported him to chase that independence.

Johnathan attended a specialist secondary school, followed by a residential college to help him gain life skills and an experience of being independent.  At 19, Johnathan was living independently in supported housing – with a flat to himself, and 24/7 carers in the local commune areas. Eventually, Johnathan left here to live unsupported, met his partner and fathered two daughters – one also has Neurofibromatosis, and the youngest baby is due in March 2024 – there is a 50% chance that she too, like her daddy and older sister, will have NF.

Johnathan and his young daughter, Aurora at one of his favourite places… Legoland!!!

Johnathan has maintained his independence throughout life, but family were always behind him to support with the things he did not manage so well – like finances (an obsession with complex Lego models might be to blame on that one, but everyone has their vices, right?). So, when, in November 2023, it was highlighted by his partner that Johnathan had been unwell, and was behaving ‘strangely’, we knew something was wrong. An ambulance was called – Johnathan was suspected of having a stroke and taken to the nearest hospital with an appropriate Stroke Unit. Here it was confirmed that no stroke had occurred – we were relieved! But bad news was around the corner…

Johnathan’s out-of-character behaviour could be attributed to something called hydrocephalus – a build-up of fluid on the brain. This build up of fluid was caused by a tumour almost the size of a grapefruit, sitting in his frontal lobe. This tumour had compressed the ventricles in his brain, meaning they were unable to drain the fluid from around his brain… the fluid build-up had caused immense intracranial pressure, and this had damaged some of his brain tissue. 2 days after Johnathan was admitted to hospital, a shunt was fitted to help drain the fluid, and steroids administered to help reduce the symptoms of the brain swelling. 10 days after this, surgeons opened him up to remove what they could of the tumour but found it was dangerously close to his motor-function area.  If they cut too deep, they would permanently paralyse him down one side.

Johnathan in hospital after his second neurosurgery in 10 days

Johnathan’s scar healing nicely

Surgery was ‘successful’ in the way that Johnathan suffered no motor-control damage – but we aren’t out of the woods yet. The mass is cancerous and, although it is treatable, it is not curable. Johnathan’s case is terminal, and he is simply no longer the man he once was – the man hellbent on independence, the man able to play music by ear, able to care for his daughter’s every need, to build complex Lego cars in a matter of hours. Even to hold a conversation, maintaining attention, is a struggle. 

Johnathan no longer has ‘capacity’ and is unable to consent to some of the treatment that would typically be a standard pathway. So now family is funding for private treatment that does not include some of the more dangerous treatment options – we want him to live the rest of his days pain-free. If you are able to help share Johnathan’s story, please visit gofund.me/d011440e or his Facebook page Help Johnathan’s Fight Against Brain Cancer, where you can see regular updates of his shenanigans and be able to contact family, and be a part of our supportive network. He loves meeting new people, so feel free to pop over a hello message!

Throughout all of this, Nerve Tumours UK has been a Godsend. They have been our turn-to when trying to explain NF1 to new medical professionals, or helping others to support Johnathan’s daughter, like her school and social workers. Despite NF1 being an occurrence of 1 in every 3000, it is surprising just how little information there is out there in the world!  Even those who work in areas of neurology specific to Johnathan’s needs, have not always heard of this genetic disorder. More awareness is needed! 

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