The Penny Drops

On the 31st of January of this year the reality that I have NF1 hit me with such a force that I am still reeling from the experience a full week later! I have now actually decided to deal with it rather than to pretend it doesn't exist (or that it isn't a problem) since the time I was diagnosed 22 years ago! It also made me realise that there is a community out there, where the 1 in 3000 approx. can support one another and empathise with each other and you don't have to feel alone! (I have only met 1 other person with the disorder since that time!)

I was working nights at my place of employment and noticed that I had a few more bumps appear when I was showering for work. I had started to have what I thought were just the usual itches due to cold weather. Before that I never really noticed how many bumps I had as they were on my back. After a good scratch I realised a few more had appeared over the years (only 2 or 3 had really appeared on my chest so I didn't pay much heed). So whilst not being busy at work I decided to look up NF on the Internet as I only really knew very little about it apart from what I was told about it at first diagnosis. At the time, I am ashamed to say, I remember only reading the pamphlet the doctor gave me and not making too big a deal about it. I did tell a couple of close friends about it at the time and they didn't seemed overly concerned either. My mother was the only one who took an interest due to her own fascination with genealogy and family trees. Of course, the first web page on NF was Wikipedia. Wikipedia is one of those sites where you can get a good idea on a subject, but of course it can't be your definitive source as anyone can edit it and put whatever they want about a subject. The chances of the NF page being edited by jokers is probably as slim as the chances of having NF or someone actually knowing what I now call "The Forgotten Disorder" is. After all is more interesting for Wiki saboteurs to vandalise poor celebs pages instead! So Wikipedia was my first port of call. I found the page a bit disconcerting, particularly the first photograph of an elderly persons back. My first thought, I am also ashamed to admit was maybe getting the lumps removed every so often for self esteem reasons. After that I went to www.nfauk.org for comprehensive information and was not only moved by the photo of the brave girl on the home page but the realisation that I ought to take this disorder more seriously! I also felt that I had just been diagnosed for the very first time, again! And that it was more than just a case of pandering to my vanity, there is more to NF1 than a few lumps! I should go see my doctor.

Since birth the NF gene has been dropping little hints along the way that something is different. I just assumed it was because I liked being different in the sense that I never really followed the crowd! The cafe au lait patches were just put down to unusual birth marks. I was just a hyperactive excitable over-imaginative kid! That's why I couldn't sleep at night. I was a late developer. That's all! To be fair we are much more clued up to all kinds of things to do with health and the human psyche than we were during the 70s and 80s when I was growing up. My larger head is only really noticeable when I try on baseball caps as I have to use the last hole on the strap at the back. Thanks be to the guy who invented woolly hats! So I never knew I had NF until I thought about the blotchy skin on my chest when I was about 21 or 22 years old. I assumed that I had an allergy to something, probably clothing, and went to see a doctor who referred me to a dermatologist. The dermatologist must have clocked something and referred me to a specialist at Guy's Hospital for children! A 22 year old going to a children's hospital! All I really remember is sitting behind a curtain with my top off whilst listening to a mother in the next section being told her child has eczema and the child being pretty distressed by the whole situation. Then as far as I recall, being prodded, my back being checked, my head being measured and my eyes being looked into! Then the diagnosis. Neurofibromatosis Type 1. I was given a pamphlet which had a lot information about it and contact numbers and was told to keep monitoring the situation by have my blood pressure checked regularly etc. Apart from that, I didn't feel any different at all, just content that I now knew why I started puberty late, what the birthmarks really are! In a sense it was probably a blessing that I wasn't diagnosed as a child due to my NF being very mild when compared to others. When you are told you are different or special as a child you can become conditioned to it and the situation can become more aggravated than it really should be. The reason I say this is that my wife read an article about a couple being told that their daughter was autistic and they misunderstood the doctor and thought he meant artistic, so they bought her paints and brushes and encouraged her to peruse her talents. She grew up to lead a normal life. This may the exception rather than the rule!

My not fully paying attention at the time of my diagnosis was probably a blessing as well as a detriment! The blessing being that I just carried on living a normal life just as many do with NF and not allowing it to affect me psychologically in any way. The detriment being that I could have avoided certain issues every time that the NF gene dropped me a hint. It has done so over the years but it was always filed away somewhere only to surface now and again. I think the next time I addressed it was when I was thinking of getting married four years later! I started to go out with a Spanish girl I had met through friends and it was getting serious and we were discussing marriage! Of course, it can be a massive issue as it has a 50% chance of being passed on to your children. I explained NF to her and the complications, showed her the blotchy skin, the lumps on my back (there were a lot less then!) and she was not phased at all by it. She really is a lovely person who always sees the inner person. She has even told me many times over the years how nice my skin is, can you believe that? Only now do I realise that, apart from the effects of NF, I do have nice skin. Fortunately for both of us neither really wanted children so it wasn't an issue.

The next time NF dropped me a hint was a couple of years later and I noticed by chance that my sight had deteriorated in my right eye. I was sitting in an audience and had to move my head slightly to see the stage clearly due to sitting behind someone tall! I thought it was just lazy eye or something as I didn't remember that there could be problems with vision as well due to NF. So I had an eye test and got some glasses which I never use because my left eye is so good! Plus the glasses make the room swirl and I can't deal with that as it irritates me! I never once thought that it could be connected to NF. I didn't put 2 and 2 together! That might be because of the trouble the NF community is supposed to have with math!

A couple more years later I noticed a large lump above my elbow joint deep under the skin. When anyone grabbed my arm the pain was immense so I went to the doctor to see if it was worth removing and they did a load of tests on it, such as X-rays and ultra sound which were totally unnecessary as I had told every doctor it was due to NF and was definitely not malign! In the end after an MRI Scan I was sent a letter saying I had been discharged for failing to turn up to a further appointment! I received no such appointment in the post but who am I to argue with our infallible health system! So I left it at that.

Roughly about two years later a bump appeared on the back of my neck above the hairline. I scratched it without knowing it had appeared and caused it to bleed on a train journey home from work. Let me tell you it's really difficult to cover that one up on a packed commuter train when you are wearing a white shirt! Went to the doctor and he sent me to a local hospital to have it removed. A Russian doctor cut it out using a blow torch or something that made a great hissing sound and it has never grown back to this day! I really wish I could remember what the procedure was called now! Apart from that one incident I never really thought about lump removal until now! After all, many people have moles, warts and other blemishes and they are happy to live with them. But then, the penny drops! It was like the NF gene saying, "You can't ignore me forever!". You have come to the realisation that you do have something wrong and you should DO something about it, even if it only means regular check ups.

So I booked an appointment to see the doctor a couple of days later after finishing the set of nights I was working. I haven't slept well since the penny dropped and going to the doctor was long over due. I made sure I went with the nicest one there and the first thing she did when I explained the whole situation was kindly tell me off for not coming in more often! She checked my back and my blood pressure which is high but not high enough to cause concern and is sending me to have some standard tests etc. I will also be referred to an NF specialist to go under their umbrella. I was also given a couple of creams to help with the itching but I am unsure as to whether they will aggravate NF or not as they seem designed more for eczema than NF! I also suspect that after I left she checked Wikipedia or some special doctor database so as to know exactly what NF is! After all, we are a unique kind! There are only 1 in 3000 of us! You don't meet us very often!

So now that the penny has dropped I am ready to face my condition head on. Something I should have done 22 years ago after receiving those pamphlets! I am also going to embrace the quirkiness of the NF gene. There are so many questions I have after finally visiting the various NF forums, such as why do so many of us love a really hot bath? Why is every case unique? For example, I don't seem to have Lisch nodules or noticeable scoliosis. but there are other questions such as, "Why are so many people who have NF fascinated by mundane subjects and patterns?". I happen to love maps! At the age of nine I could draw the London Underground map from memory! Are these anything to do with NF anyway? I hope now to understand much more about it. I am probably going to use a lot of exclamation marks too!