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Connor’s NF2 story

17 May 2024

Mum knows best

Connor was born in 2006 and when he was only 8 months old, I noticed a swelling on his neck. The GP was not sure what it was, so he was sent to the local hospital, who diagnosed a ‘Cystic Hygroma’. He had to go to Bristol Children’s Hospital (BCH) for treatment and several cysts were injected with an inflammatory drug.

The first time, due to the location of the cysts and the risk of swelling to his airway, he had to be ventilated on the Intensive Care Unit for 2 days. He had to undergo five more courses of treatment over 4 years and afterwards I hoped that was all he would have to put up with in his life.

However, when Connor was 8 years old, his behaviour started to change, sometimes only in small ways, by not wanting to do things I asked him to do when previously he had done them. 

His behaviour at school was also causing concern with regular reports and frequent telephone calls from the teachers. The teacher rang and said ‘Mrs Walters, Connor has set off the fire alarm and we have had to evacuate the whole school!!

I took him to see the GP and he told me he was just ‘attention seeking’ but I knew something was wrong with him but couldn’t get anyone else to listen or take it seriously. After a while he started to have ‘funny episodes’, not really ‘with it’ and just ‘staring’.

I took Connor back to the GP again and was just told it wasn’t epilepsy! 

I also went to A&E but was only told he ‘looks alright now’!

This was a difficult time for me as I had just been told I was pregnant.

The ‘funny episodes' were becoming more frequent and one day when we were in the car he had a really bad ‘turn’ and my husband recorded it on his phone, so we took him straight to A&E. When we showed the doctors the video, they gave him a thorough examination and they arranged an eye examination with an ophthalmologist the next day.

When he was seen the next day the eye doctor explained the findings – Connor was virtually blind in one eye with a cataract but also he needed an urgent CT scan and we were not to leave the hospital, until the doctor had seen the result.

The scan showed 2 large brain tumours and smaller tumours on his spine.

Connor was immediately admitted to hospital and later that day, transferred from Plymouth to Bristol Children’s Hospital in a ‘blue light’ ambulance. The journey was particularly uncomfortable for me, as I was nearly 9 months pregnant at the time and Connor was still in pain from his broken arm after a recent fall!

The following day Connor underwent a 13 hour operation to remove the brain tumours and 5 days later a further operation to remove the spinal tumours.

My husband and I had to stay in the hospital with him but after a few days, I started to have stomach cramps, which I put down to stress but the pain got worse and eventually I realised the baby was coming. So, whilst Connor was recovering in intensive care, I was taken to the maternity hospital and my son Owen was born by emergency caesarean. Once Connor had recovered sufficiently, he was able to come to the maternity hospital and see his baby brother.

Connor had to go back to the children’s hospital several times, due to scalp infections and to have the skull covering changed from a titanium mesh to an acrylic plate.

Connor was eventually diagnosed with autism, anxiety and a genetic condition – NF2 (previously called Neurofibromatosis type 2) - he will continue to develop tumours throughout his life. As neither parent or grandparents had NF, Connor underwent genetic testing which confirmed a ‘random mutation’. Connor has regular MRI scans and is receiving Avastin every 2 weeks to arrest the growth of tumours. He has also developed epilepsy. 

Connor was initially treated for brain tumour removal in Bristol Childrens' Hospital, then the John Radcliffe Hospital in Oxford but has now transferred to Derriford Hospital in Plymouth which has a dedicated NF Nurse.

Connor is now 18 and on leaving school has enrolled on a car engineering course.

I am very proud of Connor for all he has gone through and he is an amazing boy.

Tracy (Connor's mum)

On 14th April, Connor's cousin Jordan took part in a white collar amateur boxing match to raise funds for NTUK through sponsorship..

to raise funds for NTUK through sponsorship..

"It's a charity boxing event and there was only one person in mind who I was extremely happy to raise for, never been in a fight or boxed ever but willing to for my cousin."

Jordan: "Everyone is worried about him but he is always, always staying strong. This event is a good way to get the word out and to help my family. My auntie, Tracy, she does everything she can do for her son and takes him to all surgeries and takes him to as many places as he wants to".

Schwannomatosis  Team - Devon and Cornwall Service

Helen: I am the Specialist Advisor in the Devon and Cornwall region, for individuals with inherited tumour predisposition syndromes including Schwannomatosis and Neurofibromatosis.  

The Schwannomatosis service consists of a multidisciplinary team of medical professionals with specialist knowledge and extensive experience. We are a satellite service for Oxford and work with individuals who have Schwannomatosis , including NF2-related-Schwannomatosis.

We run our clinics at Derriford Hospital in Plymouth, on the second Thursday of every month and the first Thursday for our new patient appointments. In addition, I run weekly follow up clinics for those with a confirmed diagnosis.

On a personal level,  I thoroughly enjoy my role as the specialist advisor. This involves supporting individuals and co-ordinating the care for my patients. It is fulfilling to be supporting individuals as part of their journey.

I am lucky to work with a dedicated and knowledgeable team who are willing to go the extra mile.

If you have any concerns about a potential diagnosis in the first instance,  I suggest discussing with your GP or managing consultant who can initiate a referral to our team if appropriate.  

If you are known to us already, please do phone or email us with any new queries or concerns.

Helen Tomkins

Neurofibromatosis / Schwannomatosis Specialist Advisor

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