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Joanna’s story

23 November 2022

My mother had NF1, as do both my brother and I. 

We are not alone in having NF1. 

There are 26,000 people who have NF in the UK.

I am an academic geneticist working at Newcastle University. I work in the same building where my diagnosis was made though cascaded screening aged 38. This means that I was tested due to family members having NF1, rather than there being strong indications that I had the condition. I came forward for cascade screening because I know it would pave the way for me to have access to breast screening.

I was diagnosed with breast cancer June 2021 after a recall from my annual mammogram aged 45. Women with NF1 have an increased risk of breast cancer and should be attending annual mammograms from the age of 40.

The link between NF1 and breast cancer was made in 2011. My diagnosis was the start of 18 months of cancer treatment. For me this involved chemotherapy, surgery, radiotherapy, and targeted biological therapy but it is important to know that treatment is tailored to each patient. My mother was diagnosed with breast cancer at the age of 40, she died aged 42. She did not have the chance to take up a mammogram.

Firstly, I would like to say thank you to all the staff of the NHS who supported me. I am a woman with NF1 without clear external features of the disease. I took up cascade genetic screening to access an annual mammogram from the age of 40; lucky that I did, as I was diagnosed with breast cancer in June 2021!

But I got to ring the bell this November.

So, if you are a woman with a close relative with NF1, consider talking with your GP about cascade genetic testing to access yearly mammograms. Ringing the bell marks the end of my treatment - a great relief and the chance to get back on track with my running plans in the near future. 

I am not only continuously running to raise awareness for Neurofibromatosis but also to get this message out to more women with NF1.

Joanna with Rebecca, NTUK Specialist NF Nurse

My big goal is to run the London Marathon in April 2023 and I am back in my running shoes running smaller 10k distances.

My doctor gave me the okay for running, in fact they said exercise was recommended. But it is important to speak to your own medical advisers before starting a course of exercise.

I ran the London Marathon for NTUK in 2019, to fulfil a promise that I made to my father who passed away November 2018. I not only wanted to raise funds, but also awareness about Neurofibromatosis and women with Neurofibromatosis Type 1. 

I ran the Oxford 10k Town and Gown on the 8th of May. It was the first time that I had run 10k since just after my diagnosis. I must confess I ate the minion’s dust!

My most recent race was the Choppwell Woods 10K in September.

In 2019, when I ran the London Marathon, I was beaten by at least three of the rhinos. And that was running without cancer treatment. So, I have never been fast. But it is crossing the line that matters, not when you cross. Any of these events are a personal race. I was buzzing at the end of both!

When diagnosed with cancer last June, I was running five times a week, I was as fit as I had ever been. The plan was to run a series of marathons across Europe, starting in Moscow and ending in London. What a difference a year makes.

I have decided that with my cancer treatment coming to an end November 2022, I will focus on London in April 2023. It is a fabulous race. London at its best, and the support is incredible! I get goosebumps thinking about it.

I will not lie; it has not been easy building up after 18 months of cancer treatment.

But I have been training hard. I have made it up to 25km in the distance stakes.

I have been mixing my training with different run types, including the dreaded interval runs.

In addition to running, I have been swimming, spinning and hiking.

Oh, I visited a spa too, but I did read a book about running while cooling off by the pool after a stint in the sauna.

All work and no play, as they say. It is getting close to the big day. I am excited and nervous, but perhaps more excited.

Running the mega marathon circle that I initially planned is not completely forgotten….. in the back of my mind is a different next challenge, the Comrades marathon in South Africa, perhaps the world's most famous Ultra Marathon. My wife is a South African, and as an academic geneticist I have done a lot of work in South Africa, having an honorary position at North-West University.

Support Joanna - Running to raise awareness of NF1 & breast cancer, for Nerve Tumours UK because screening saves lives & activity aids recovery

Are you interested in following in Joana's footsteps and fundraising for Nerve Tumours UK?

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