The Rogue Gene

Based on a true story!

    At the moment of conception, nothing short of a miracle occurs! A new life is created. At that very moment, within a millisecond, it is decided who that new life is going to be. It is the fastest board meeting of two merging companies ever. On that board meeting, within that millisecond, two sets of chromosomes meet together to discuss, argue and decide the characteristic of that new life. Forty-six in all, twenty-three from the mother and twenty-three from the father. All with their own agendas to fight for. Depending on how strong they feel each chromosome will either cede or dominate over important decisions such as the colour of the eyes and the hair and to the extent of how many will grow! This is where the expression, "He's got his mothers eyes!", comes from. The mother's chromosome responsible for that department won the day when the board meeting occurred. It is truly amazing that by just looking at someone you can tell who their parents are! It is also remarkable that some children look so much like one parent. Obviously that set of chromosomes had dominance over the board meeting that day.

    Once the super quick board meeting is done, the production line immediately goes to work. Little factories known as cells divide at an alarming rate. "Business is booming!", as they say. Each little factory carries the blueprint for the whole empire. As cell divide, departments are formed. The heart, the lungs, the kidneys and hundreds more. All being done by each individual employee whether his name is DNA, RNA or whether is name is enzyme or protein. They all do their job. Some better than others!

    This may not be apparent until birth or even many years after that. But for now everything seems normal. Nobody knows that something is amiss. The doting parents think that their little bundle of joy is the most beautiful baby. He has some cute little birthmarks here and there. Maybe they don't realise his head is a little on the large size but he has very interesting eyes when you look deeply into them. They try to support him as he struggles more than others at school, particularly maths. Then one day after some tests a doctor with previous of knowledge of a condition known as Neurofibromatosis (type 1) informs the parents that their child is one of the 1 in 3000.

    As you know we live in a "blame culture", and we know who to blame! It's a little guy who works for the 1200-1500 (according to geneticists) strong department Chromosome 17. We sometimes even know which branch, whether it be X or Y. He is one of the guys who really should have been laid off when the merger happened. After all poor ol' Blue Eyes ended up being shown the door in favour of Brown Eyes at the merger and he was great at his job! Can't sack the guy who works for Chromosome 17 because there is no one else available to do his job. We are, in fact, waiting for an expert to come in and retrain him, send him on a training course to help him do his job better! His name is Neurofibromin 1. His job is to regulate or supervise the guy called RAS protein one who basically has a hand in cell growth. As you know some people should not be in a supervisory position because they can't manage their staff properly and RAS protein 1 needs special supervision because he is a bit of a workaholic! Neurofibromin 1 one, instead making sure ol' RAS has regular coffee and tea breaks, lets him charge on relentlessly at a job he loves to do. The result is a series of effects on the human body manifested in abnormal cell growth which causes the cafe au lait spots, the larger head and the tumours that appear wherever there are nerves. Which is basically all over the body! Some other side effects are hypertension, impaired or loss of vision and scoliosis among other things. Just one little defect cause much bigger consequences elsewhere. A butterfly effect! Mathematician Edward Lorenz stated that a hurricane could be the result of a butterfly that flapped its wings several weeks before. Just one protein, just one gene can do so much harm. For example, on Chromosome 22, the gene Neurofibromin 2 being defective will cause the related disorder of NF2. If you investigate further there are a host of genetic malfunctions causing other disorders. DSCR1 on Chromosome 21, if defective, will cause Down syndrome. Genes are very complicated and delicate things! They are what makes us uniquely individual!

    Just as each person is an individual in their own right, each person with NF has their own individual NF. Their expressivity of NF is as unique as their fingerprint! Only they have it. Sure the symptoms may be the same but not exactly, after all a fingerprint can be explained as contour lines on the tip of ones finger but a fingerprint can mean the difference between guilty and not guilty! With each persons unique manifestation of NF comes their own individual pain whether it is physical or emotional. It is personal to them!

Let's Start Again

    Friday I took another two steps confronting NF1! These are steps I already took 22 years ago but it still seems like I am taking them for the first time. Only this time I know the answer. It feels a bit like watching a film you have seen many years ago where you know the basic story but you just can't remember the exact storyline.

   Friday morning after spending another sleepless night, this time unable to dispel the boredom or hunger by snacking in the night because I had to go for a blood test, I went to my local hospital. Found the Pathology Department and learned something new. The medical complicated term for a blood test is a phlebotomy! After arriving at the front reception desk I was told to just grab a ticket and wait my turn by a nurse who was obviously fed up of telling patients the simple procedure. Forgive me for not being a seasoned visitor to the Out Patients department. Why on earth would I think that the Phlebotomy department is exactly the same as the cold meat counter at Sainsburys? So I took my ticket, number 14, and sat down and prepared for a long wait as the next turn was only number 6! What I didn't expect was how fast this particular queue was actually moving! The numbers seemed to ring up faster than the last 5 seconds of an eBay auction! Wish the cold meat counter was that fast! What I didn't realise was that there were about six little booths to go in and the turnover was pretty quick. A friendly Irish nurse was in charge of my phlebotomy (how I love that new word) and could tell I had a good bout of high blood pressure just by how easy the needle went in. It was all over in a matter of seconds, and the labels my GP had given me were fixed on to 3 little sample bottles of my blood each containing the defective gene on chromosome 17 yet each would be tested for different levels of different things. All I know is one was to do with glucose, another to do with kidneys (renal) and the other for something that has a 3 letter acronym. L might have been one of the letters. I must start to pay attention more! This procedure I found a bit disconcerting and pointless. Pointless because I know what is wrong and disconcerting because when they look at my symptoms such as poor functioning kidneys or something they will treat the symptoms rather than the cause! They always do. It's like teachers and parents demonising Facebook because it is being used to bully and gossip etc when really they should deal with why it's being used for that purpose and deal with the source of the problem! Anyway, I'll just wait and see.

The other step I took was confronting the task of telling friends that I was as healthy as I might look. To be honest I don't look amazingly healthy, as I have rings under my eyes which is a sign of kidney problems possibly due to NF1, but I don't look unhealthy either. Occasionally, someone may might have asked what's that rash on your arm when I have worn short sleeves on very rare occasions. I have always responded with the, "Oh, it's nothing really, just some genetic thing I have always had!", type response. What a cop out really! So how was I going to tell friends that I have known, some more than 20 years, that I have a rare genetic disorder and it has never come up in conversation before? On one occasion, I was watching one of those daytime TV programmes and they interviewed someone with NF and I didn't even take the opportunity. That was during the denial stage. I did tell a friend once when she explained that her teenage son's learning disabilities were due to neurofibromatosis that I had the same thing. It was more of a, "Small world, by the way.", response and she looked at me very bewildered and I am not sure she really believed me. It was if I had mistaken what she had told me. Her sons NF is quite bad by the way. I don't know why I blurted that out really. Was it because I felt a bit of relief that I wasn't the only case I knew of?

So after my phlebotomy (managed to get that in one more time!) my wife picked me up with a close friend of ours in tow to go for a coffee and a bit of lunch. She was the ideal first person to tell. I've known her longer than my wife and she moved abroad before I got married but moved back to area a few years ago and when my wife and her met they hit it off really well and have been close friends since. She is also an aromatherapist and is quite sympathetic to all sorts of ailments and problems people experience. So at coffee, we explained the whole story of denial and exactly what NF really is without too much fuss. I am so glad she was the first in my circle of friends to know. Sometimes all you need is genuine empathy and you feel a whole lot better! Since then I am less concerned about having the lumps removed and more concerned with looking after myself better. NF is more than the lumps on your back, it's has other issues which are just as important in this image obsessed world we live in. When you truly know that people love you for the person you are inside you can be content with yourself. However, I will not tell everyone I know about my NF, I still believe it is something personal and I still don't want to make a big thing out of it. Why the blog then? For one thing it helps me to write about it and it may help others who stumble across this site and have the same issues. The great thing about the net is that it is both private and public at the same time! There is a good website called inspire.com where people with NF can share, advise and empathise without feeling exposed to the whole world. It was once said that you can be in a crowded room and still feel alone. With the Internet you may be alone but you don't have to feel that way. You can separate your everyday life from your NF life, but you must have both in order to live your life.

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!