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Josep’s Story

04 June 2020

I was diagnosed with NF from when I was 3 years old however, I did not find it out until around 18.

I grew up hyperprotected and my parents never spoke to me about this illness. In our family, my NF was lived with fear and blame so we never talked about it. 

The first time I heard this terrible word, "neurofibromatosis", was by accident in the GP, I got overwhelmed and I did not know how to react. I did not even show my anger to my parents for keeping my illness hidden for so long. I locked myself up even more than I used to and mourning about it was making me feel selfish. So I felt alone and I did search "what does NF mean" on the internet. However on the internet the easy access of information, the first one to appear, is usually at the same time the worst, the worst diagnosis, the worst predictions,etc. Looking back afterwards I realized the pain I did suffer was in a way totally unnecessary pain.

It is not easy at all to answer when someone who you have been confident with, asks you what NF is about? How do you respond? Where to start from? I keep searching for a short answer.

There is an extraordinary group in Barcelona where I am from, of people with NF and relatives. I have been with them sometimes with their amazing self help or mutual aid groups. They were so helpful, they helped me a lot finding out you are not the only one in the world with this weird illness. It is unbelievable how much it helps to share our stories and how much it encourages yourself to face your life knowing how wonderful people are doing handling it day by day.


I would have to recognize I am lucky since I can say I am living a "normal" life.

So far I had plexiform neurofibroma in my shoulder that needed surgery and my issues are more about my appearance; like the massive brown skin marks and quite a lot of neurofibromas in my body, rather than health. It is true sometimes that they bother me, especially with some people's reactions and I tend to avoid not wearing shirts. I have risen and fallen and likely I will do again. Our illness is progressive, and that means our reslience needs to strengthen as long as the illness continues.

We have an uncertain future, but in fact the future is uncertain in itself, and it is definitely better like that.

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Constitutional Mismatch Repair Deficiency Syndrome as Differential Diagnosis to NF1/Legius Syndrome

Prof. Dr. Katharina Wimmer, Medical University of Innsbruck

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Masterclasses in NF: Rare NF1-Associated Tumors in Adults

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Simon Freeman, MPhil FRCS, Manchester Royal Infirmary and Salford Royal Hospital

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Masterclasses in NF: NF1 Dermatological Manifestations

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Laura Fertitta, MD, Hôpital Universitaire Henri Mondor

Sirkku Peltonen, MD, PhD, University of Gothenberg, Sweden

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Masterclasses in NF: Pain in Non-NF2-Related Schwannomatosis - David Pang

Masterclasses in NF: Pain in Non-NF2-Related Schwannomatosis

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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

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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.

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Masterclasses in NF: Surgery in NF2 - Michel Kalamarides & Andrew King

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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

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‘Neurofibromatosis 1 in the 21st Century’

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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