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Mia’s NF1 story

07 January 2022

Mia was born on the 26th July 2020 and lit up our lives from the start.

Despite a shaky beginning with colic and reflux, she was a little treasure who had us all sussed from day one. She had an insatiable love for books, music and non stop chatting. Our bright little button stole the hearts of people she met from the off.

However, there were times Mia would cry a lot, for days on end and there was always a gut feeling something wasn’t right, but there are only so many times you can say ‘my baby cries a lot’ without seeming like any other exhausted Mum. But at 9 months her personality began to change, she stopped sleeping almost completely, we lost her chatter, she lost all strength in her legs and spent the majority of every day crying, she would become terrified in new situations and very little could settle her.

Eventually, after all checks were exhausted, a doctor noticed some birthmarks on her legs and tummy and ordered an MRI scan. At 14 months old, after a traumatic scan, we were told that Mia’s brain showed characteristics of someone with Neurofibromatosis Type 1 (NF1). Her scans were sent to Addenbrookes for further review and we were told we would be seen again in 6 weeks.

NF1 is a common genetic condition that causes nerve tumours to grow where they shouldn’t. It occurs in 1 in 2,500 of the population.

NF1 varies widely in how it affects those who have the condition. Many people with the disorder will be affected very mildly and may have nothing more than skin changes. A minority of people (around a third) who have NF1 will have medical problems related to the disorder at some time in their life. Some of these problems will be mild and easily treatable and others will be more severe.

We were absolutely devastated for our gorgeous girl and felt lost on how to see her future. We often said we felt like she had a dark cloud chasing her now, just waiting to catch up with her and rain away her sunny days. We had no idea what, if any, symptoms she would develop and had to come to terms with living a life of constant worry for her until she reached adolescence when many of the symptoms usually begin to appear.

However a week later, one evening, we received a call from Addenbrookes, one of the centres of excellence for Neurofibromatosis in the UK, asking us to bring Mia to see them first thing the following morning. We arrived to a room full of people and what we were told next, caused our entire world to crumble.

Mia had a bilateral optic pathway glioma, a huge collection of brain tumours that had formed a blanket around her entire optic nerve and surrounding pathway. She also had hydrocephalus (fluid on the brain) caused by the tumour and would likely have lost a proportion of her eyesight already.

We were told it was likely that Mia’s tumour had been present from birth or even before and had developed as she had.

As far as we know, we have no family history of NF1, making Mia a spontaneous case of which she is 1 in 40,000. We are waiting for gene testing to confirm this.

3 days later, she had a biopsy on the tumour and a Hickman line inserted to stay in for the entire course of chemotherapy. A week later a permanent shunt was inserted into her brain to drain the fluid and she started her chemotherapy course the following week to last for 70 weeks. Our entire lives had turned upside down.

Nothing can prepare you for the unimaginable pain you feel when the person you love most in the world may not live the life you wanted for them. Seeing your baby suffer changes you in ways you could never explain.

Mia is now a few months into her chemo, she has since had another shunt inserted to relieve further pressure in her brain and has lost her eyesight completely. She is often terrified, upset and wiped out from her treatment. She has weekly chemotherapy sessions on top of blood tests, CT scans, MRI’s, ophthalmology and oncology reviews.

Mia’s tumour will never go completely, the aim is to stabilise it and there is a small chance we may be able to shrink it a little if she responds well to treatment. Unfortunately, it will likely continue to grow until she is older, so she will need further chemotherapy throughout her childhood if that happens. We have been told the chances of her regaining any of her eyesight are slim.

Mia and mum Bridie

She is slowly learning a new way of life without her eyesight and we can only hope her treatment begins to work and treat the tumour and that she doesn’t develop many more symptoms as she gets older.

There are approximately 26,500 people in the UK alone, living with Neurofibromatosis Type 1, Type 2 and Schwannomatosis.

There have been many dark days and constant questions.. ‘Why her?’ ‘Why this?’ but the truth is you never know what the future holds for anyone, all we can do, is everything we can to make sure she has the life she deserves.

Mia and dad Warren

Mia may not be able to see the wonders of the world for herself but we will do whatever we can to make sure she experiences the beauty in everything around her. Our beautiful girl is one hell of a fighter and we couldn’t be prouder of her!

 

Warren's colleagues in 656 Squadron are raising awareness for those affected by Neurofibromatosis & are fundraising for Nerve Tumours UK, a great charity that facilitates research and makes the every day better for those affected. 

Updates from Warren's colleagues

656 Squadron Group deploys to Bardufoss in the Arctic every winter to conduct combat aviation training

80 groundcrew, aircrew and engineering soldiers will run a collective 4190km in their spare time, whilst on exercise for 6 weeks in one of the harshest environments on earth

Do you want to talk to our fundraising team?

If you’ve got an idea for your own unique fundraiser, let us know and become one of our fundraising inspirations! Or if you want to pick some of our ideas, contact us at fundraising@nervetumours.org.uk or call 0208 439 1234 and speak to our fundraising team. 

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