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AUGUST 2022 InTouch | 17 My journey with Neurofibromatosis type 1 (NF1) started when I was around 8 years old whilst on holiday with my family. During the night I had a seizure. While I was at the hospital the doctor asked my parents if I had ‘von Recklinghausen’s disease’ (a historical name for NF1) due to the light brown discolorations on my body (cafe-au-lait spots) and sudden onset of seizures. After a referral to a paediatrician, I was formally diagnosed with von Recklinghausen’s disease or NF1. After the diagnosis, I suffered from frequent seizures which really affected my memory and ability to do basic tasks. I lost the ability to read and ended up having to be toilet trained again. Throughout my school years I found it hard to make and maintain friendships and suffered frommany learning difficulties. However, I was blessed with an amazing and supportive mum (who was diagnosed with mild myopathy in 1998) who didn’t let it stop me from achieving and she worked hard to re-train me in the things I had forgotten how to do! I am forever grateful for her support and‘never give in’attitude. At intermediate school, I met a friend who is still one of my closest friends some 35 odd years later! We didn’t realise it at the time, but we both have the same condition. When she was diagnosed, they referred to her condition as Neurofibromatosis type 1 (NF1) however my paediatrician called it von Recklinghausen’s disease, so we never clicked. My early adult life was great, and I never let my condition get in my way of a normal life. I had a full-time job at a dementia rest home, which I stayed at until I married and fell pregnant with my first child at 27. In pregnancy, I started having lumps appear on my skin, but I still don’t have as many compared to others I know. As a carrier of NF1, there was a 50% chance of passing the condition onto my child. My firstborn, Cain, 19, didn’t inherit the condition and neither did my second child, Reuben, 17. My third child, Michael, does have NF1. Michael, 15, was diagnosed with NF1 at 6 weeks old because of his large head size and cafe-au- lait spots. My fourth and last child, Jessica, 12, also has NF1. NF1 has affected Michael the most and he has also been diagnosed with autism spectrum disorder (ASD), dyspraxia and has an optic nerve tumour. Michael’s condition hasn’t affected his education and we have a great relationship with his school. Michael has been placed into a smaller class of 13 to allow for more 1:1 support which has really helped. Jessica has no major health concerns with NF1 thankfully, but YOUR CONDITION IN REVIEW South Island member, Melissa Salmond, shares her family journey with NF1 and why she takes a ‘never give in’ approach. Heeding my mothers’ advice Melissa, right, with two of her four children Michael and Jessica, who both inherited NF1. does get bullied at school a lot because of her skin discolouration. My mum’s wonderful attitude has rubbed off on me and I try to support my own children in the same way she supported me. In July 2020, I had a large and painful lump removed. The doctors weren’t sure if it was related to NF or not. This lump wasn’t related, but a subsequent scan showed lumps on my gallbladder, so I had my gallbladder removed in October of that year. While in surgery, they found another lump on my bowel, so I ended up having to have a bowel resection in December. The hard and difficult year ended with another blow after an MRI showed more lumps caused by NF1 that they wanted to ‘keep an eye on’. In early 2021, one of these lumps