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Dealing with the unexpected

Hello everyone! My name is Megan, and my story begins in 2011/2012. I was attending regular appointments with my Paediatrician Dr El-Shimy for constipation and stomach pain. During a physical examination he noticed a café-au-lait mark (coffee coloured patch) on my skin. After a closer examination he found multiple marks on my legs and torso. Little did I know this one examination would turn my world upside down and send me down a path I never imagined for myself.


After telling me and my mom these marks were a sign of a genetic condition, he made an urgent referral to the genetics clinic. A few weeks later we were back at the hospital speaking to the geneticist, taking down my medical history, family history and having more physical examinations. As a young girl all of this was extremely confusing as I wasn't fully aware of what the condition was and why I needed all these checks.


After the examination, the geneticist sat me and my parents down and told us I did have Neurofibromatosis Type 1 (NF1 for short). For those of you that don't know NF1 is a common genetic condition that causes non-cancerous tumours to grow on the nerves in the body. It affects 1 in 2,500 people and there are currently around 25,000 people in the UK with a diagnosis.


When I found out I was completely shocked. Nobody in my family has the condition so the genetic mutation happened spontaneously, which occurs in 50% of all NF1 cases. There were no symptoms to warn me and there were no glaringly obvious signs. My family and I always assumed the café-au-lait marks were birthmarks so we never chased it with anyone. Had we chased it, I may have known from a younger age and had more experience with the condition.


So many questions were running through my head after my appointment- why did I have to be affected by the random mutation? How will it affect me physically? What will people think? What will the future hold? As I was coming to terms with my diagnosis, I started getting more appointments through for scans and tests. One MRI confirmed the fear that had plagued me since the scan was ordered- a brain tumour. The scans showed it clear as day sitting by my brain stem, making it virtually impossible to have it surgically removed should it grow too big. This news was completely shattering to me at the time. So many more questions clouded my head on top of all the questions I mentioned before- why did I have to have a brain tumour? Would it get bigger? Will I need treatment? As I've got older I've come to terms with it, accepted the possible outcomes and found a positive outlook on the situation.


Along with this my x-ray confirmed I had a 24.8 degree abnormal curvature (Scoliosis). These 2 conditions were diagnosed within 6 months of each other so trying to process everything was extremely hard for 12 year old me. Thankfully I had the fantastic Nerve Tumours UK (previously The Neuro Foundation) to help and support me, my family and my school as I navigated through the unexpected. Their site gave me so much information about my condition and I'm so grateful to them for everything they've done for me over the years.


For anyone interested, here's their website: https://nervetumours.org.uk/


Their work, especially surrounding their "One More Nurse" appeal has been vital to ensuring people with Neurofibromatosis are seen, heard and given the care and support they need.


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