Thanks to everyone who has posted here. It can be a lonely road as a parent- as some of you have mentioned, many doctors have barely heard of it! When I first knew NF was a possible diagnosis for my boy I joined a US forum called Inspire. It certainly provided a lot of information, almost too much at once! I met some lovely people, but most were adults living with NF themselves. I couldn't find much for parents of NF kids.
I thought I'd write down my son's journey, both as information for others and a bit of catharsis for me! Please feel free to skip this if it isn't relevant to your own journey with this condition.
My son D was born when I was almost 42, after 2 previous losses. He was much longed for and I when I was presented with a wailing & flailing baby, after a fast vaginal birth, I actually went into shock. Is it ok? What is it? (meaning boy or girl!).
In the newborn period I suffered from PND, as many new mothers do, but took comfort in all the midwife & doctor appointments to assure me he was fine. He was born with a few cafe au lait marks on his back, but all the professionals wrote them off as birthmarks. He was born small, at 5 pounds 11 ounces but grew quickly. Looking back, it was noted that his head size was in the higher range but everyone said the rest of him would catch up. "He must have big brains" was a term often used.
As a toddler he refused to toilet train and refused to draw pictures with me. When he could speak, he'd repeat "You do it" when I said "let's draw a tree" and so on. I didn't realise what was happening. He wouldn't use cutlery and ate with his hands.
The crunch came when he went to 4 y/o kinder. We're in Australia- they can do 3 y/o kinder but I skipped that since I was a SAHM anyway. The staff noticed various issues that we dismissed. This was during Covid, so kinder wasn't regular anyway. We initially dismissed their concerns. He doesn't like sharing things? Well, he's an only child who's been stuck at home, that's to be expected. It went on like that. They pointed out that when he ran, one of his feet turned in. So, I took him to a physiotherapist I'd previously seen (this guy cured my sciatica, so to me he was a genius) and he realised that one of my son's legs was longer than the other.
We decided to have a pediatric assessment done, still thinking these were minor issues. It was then we realised that the cafe au lait spots had multiplied. I was still passing them off as birthmarks. I have some birthmarks myself, but they've been the same for 40-something years. By that stage I'd also clocked that he had a very large head- but he comes from a family of large heads- another symptom I dismissed.
The pediatrician casually mentioned Neurofibromatosis, probably assuming we'd never heard of it and said we should do a blood test. I almost slid off my chair- I knew exactly what NF was- thanks to some university study in genetics.
As it turns out, he has a genetic variant that in some cases is in line with NF1. This was initially confusing, to say the least. Luckily I've a few doctors in the family who put me in touch with the top specialist in Australia, based at the Royal Children's Hospital in Melbourne. Dr Gabriel Dabscheck - Paediatric Neurologist & Epileptologist - Melbourne. Genetic variant aside, he absolutely has NF1.
So, it's been almost 5 years of monitoring, testing and things I won't detail. I'm so very grateful to Dr Gabe for his knowledge and his continued study into NF. He works with Boston Children's Hospital/Harvard Medical and continues to receive grant money for research.
I'm including this link in case anyone is seeing a doctor who doesn't know much about it or is dismissive of your concerns. Dr Dabscheck is internationally renowned and from what I've seen, quite generous with his time in educating other doctors.
In Australia we have the Childrens Tumor Foundation as our NF charity. I'm so pleased to hear you have the Childhood Tumor Trust in the UK.
Best to all, my apologies for the long post!