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Alfred the Pirate

23 August 2022

We’re inspired by a special little boy this week named Alfred, sharing his story about living with Neurofibromatosis.

Neurofibromatosis is a genetic condition causing benign tumors (neurofibromas) and growths to form around the body. Neurofibromas often grow on the ends of nerves referred to as ‘plexiform neurofibromas’, causing impairments affecting the heart, hearing and eyesight.

Alfred has Neurofibromatosis Type 1 (NF1), a more common but less known condition – however, more prevalent than Cystic Fibrosis, Muscular Dystrophy and Huntington’s Disease combined. In half of the cases, NF1 is either inherited through your parents or is the result of a spontaneous mutation of the genes. 

Neither of little Alfred’s parents carried the gene - it had spontaneously occurred for the first time in Alfred.

The brave and brilliant 7-year-old from Sedgley has been enjoying the sun with his best pal Stanley, the brown Cocker Spaniel this week while mum and dad, Catherine and Darren caught up with us, about how their little one continues to inspire them in his journey with Neurofibromatosis.  

At just three weeks old, the family visited our Children’s Hospital every couple of weeks with concerns about little Alfred’s eyesight, worrying that he may have glaucoma in his right eye. To save his sight, at 6 weeks old, Alfred underwent optic surgery with our Eye Department team to release the pressure that had built up in his eye over time. 

A benign tumor had wrapped itself around Alfred’s optic nerve, impeding his eyesight and causing harmful pressure which could have resulted in blindness to his right eye.

From two rounds of ‘debulking’ surgery, to remove the growth, Alfred has been able to keep his sight but likes being referred to as ‘Alfred the pirate’ for his brilliant bravery following his surgery.

He has worn his eye patch to strengthen his sight in his right eye since he was just 6-weeks-old.

Diagnosed by several specialists at 18 months old, it was confirmed that Alfred had Neurofibromatosis Type 1.

Both of his parents did not carry the gene, however, the gene appeared spontaneously within Alfred’s genetic makeup, causing the rare condition to develop.  

"Following Alfred’s NF1 diagnosis we began annual paediatrician appointments with the NF1 doctor and Carolyn the NF1 Nurse at Birmingham Children's Hospital.

Having a team that understand NF1 was a huge relief after a period of us starting all appointments by explaining NF1 and then giving our diagnosis journey to medical professionals who felt Alfred’s symptoms were not obviously indicating the condition.

He had only two cafe au lait patches originally and that’s only slightly increased since. He’s not ‘withdrawn’ or facing any significant learning difficulties, as we were told he might, so a few doctors were surprised we’d received a positive diagnosis.

It was Alfred’s plexiform neurofibroma around his right eye that convinced his eye consultant that he should have genetic testing and ultimately he was right." 

"Like every NF family, it was a diagnosis we did not want but offered some relief that we could at least move forward." 

It was at this stage that we first received a call from Melanie. She’d received our details from Alfred’s medical team and offered some information, support and education advice.

Alfred had just started school and she arranged for information to be delivered to support his learning.

Lockdown meant visits were delayed but as soon as she was able, Melanie arranged to visit his teachers and provided a whole range of information to support teachers to understand the condition and how it could impact Alfred’s learning.

She’s remained in regular contact and offers a friendly face as we approach new milestones and further treatment to navigate.

"We are grateful to her, Nerve Tumours and the network of families who help to normalise Alfred’s journey through the Childhood Tumour Trust."

At 7 years old, Alfred the Pirate takes Neurofibromatosis in his stride – not allowing it to prevent him from having fun, making friends, and enjoying the company of his sea dog Stanley.  

Mum, Catherine Hickman said: “The only thing Alfred was scared about was having to shave his hair for the operations as an in-patient, but luckily, he has not had surgery since he was three and a half years old.

He has only recently had to go back for surgery at the Great Ormond Street Hospital.

He’s so friendly, chatty and bright – he has lots of friends and he hasn’t let his Neurofibromatosis hold him back. 

"Advice I would give to other parents would be to find other people in the same position. We do a lot through social media, making friends across the UK. It normalises the condition for your little ones and helps you to also find a sense of community"

We’d like to say a big thank you to the family for sharing their inspiring story with us, along with their advice for other parents and children with Neurofibromatosis.  

We would also like to say a thank you to the Birmingham Children's Hospital Clinical Genetics team for continuing to support children and young people with Neurofibromatosis, with a special shout out to one of our colleagues, Melanie Murrell, Neurofibromatosis Specialist Advisor.

Mel is one of 12 Specialist NF Nurses, part funded by Nerve Tumours UK, who support families across the UK.

She was recently one of the faces of our national campaign to raise awareness.

You can read more about the awareness campaign here

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