Though NF1 isn’t a super rare condition it is defined as rare by EU and USA definition, affects less than 1:2000 births. NF1 affects 1:3000 people. It is caused by a mutation on the 17th chromosome. This causes insufficient neurofibromin protein, which ultimately causes tumors to grow all over the nerves in the body. I thankfully have a fairly mild case where I only have about 30 tumors. To a person who doesn’t have NF 30 tumors may seem a lot but sadly people with NF can have 500+ tumors all over inside and outside the body. As I previously said I’m extremely lucky in that I don’t have that many tumor growth I do have joint pain and hyper mobility issues though (NF related in my case). When an individual has a rare or semi rare illness it can be difficult to diagnose I saw 4 different doctors before I got a diagnosis. Here is my diagnosis story
I was diagnosed with Neurofibromatosis type one when I was sixteen years old. However my story doesn’t start here, it starts when I was seven years old. This was when I stated developing cafe au lait spots, they were tiny at this point so nobody was worried about them. When I hit ten years old the spots started to get bigger and spread round my body. My mother took me to the doctor. The doctor said that it’s just a bacterial skin infection and they have me antibiotics. The antibiotics didn’t work but I didn’t go back to the doctor as i thought “it’s not a big deal if it’s a skin infection, I will grow out of it” Fast forward to when I was fifteen years old, my cafe spots had increased in size, darkened and there was more of them. I went back to the doctor and she referred me to a dermatologist. The dermatologist told me that it was Pityriasis Versicolor (a very common skin-yeast infection). She sent me home with medicine to stop the infection. The medicine did nothing for the spots. So I went back to dermatology in March just after my sixteenth birthday for a ten minute appointment to get a different anti fungal med to kill the yeast. This day I will NEVER forget. A simple ten minute doctor appointment turned into a three hour appointment. She took a biopsy of what is now known as a neurofibroma. Then she dropped the bomb and told me I had NF. I was then referred to a geneticist for genetic testing to confirm the diagnosis. Results came back confirming I have NF1. After the diagnosis I went for further check ups for my eyes to check for tumours thankfully my eyes were healthy. Now I’m 18 and this is how NF affects me at the moment: I have painful week joints so I’m currently going to physiotherapy. I go to the genetics clinic yearly to monitor my #NeurofibromatosisType1 #Neurofibromatosis #NF1 current health. NF is a progressive illness that gets worse over time I try not to think about it though. I also have a learning disability called dyslexia which can be related to NF. I’m also awaiting a referral to my local pain clinic/specialist to see if they can help.