“ A genetic disease whereby nerve tissue grows tumors. There are three diagnostic criterias, two of which have identified chromosomes. „
Firstly apologies for no adv and disadv on this review but it's not the type of review I can give them to. The star rating was also not easy. It has 3 as although it is probably best not to suffer from it it is not exactly harmful either.
Neurofibromatosis is not very well known. This is despite it being one of the most common genetic conditions in the UK. The lack of knowing about it is probably down to two things firstly it is often missed by GPs and hence many people with the condition are not aware of it and secondly for the majority of sufferers who are diagnosed it poses little or no problems to their everyday life. As I have recently been diagnosed with this condition I am mainly concentrating on Neurofibromatosis type 1. There is a second type (Type 2) which is more severe.
Me and Neurofibromatosis
Anyway I am one of the 1 in aprox 2500 people in the UK who have Neurofibromatosis type 1 (I'll call it NF1 from now on) despite my 32 years I was only recently diagnosed with it. Several GPs I have seen in the past mainly as a child would have seen what is known as 'café au lait' marks on my skin. These are really just randomly placed pigment deposits. None of them paid any attention to them and twelve years ago when I did ask my GP at the time what they were I was told 'well occasionally these things happen but it's nothing'. So onto my most recent visit to the GP I am with now. It's only the second time in 8 years I have been to see him but I made the appointment as I thought I had busted a rib. As it turns out I had pulled an intercostal muscle. He did comment on the marks and decided to refer me to the dermatology department for an expert eye.
Well at the dermo dept one of the doctors had a look at them and the two mole like things I have had for years (again dismissed as nothing by 5 GPs) she said that it might be NF1. Well she called for the consultant for a second opinion and she agreed. This was followed by bringing in the junior doctor to have a look as well. This was apparently because they don't see many cases of it. Well that is all very well but I was beginning to have the best known back in Watford.
Well they decided to do a biopsy of one of the mole like things which are known as 'nurofibromas' when the results came back it was confirmed as NF1. This lead to an appointment with a geneticist and the ophthalmologist. According to the geneticist a common symptom of NF1 is a slightly bigger head than normal. So I now have an excuse to why hats never fit me properly.
So What is it?
It is a genetic condition which can affect the nerves. The nerve tissue can grow tumours (neurofibromas) which are usually harmless but at times they can cause problems by compressing other nerves or surrounding tissue. This is a condition which affects males and females equally and it is caused by a dominant gene. The severity of the condition can vary from person to person. However, the vast majority of sufferers lead perfectly normal lives and unless they told you they had NF you wouldn't know.
The diagnosis of NF1 can be made in several ways. Some of the more common ones are the 'Café au lait' marks usually six or more in number which are bigger than 0.5 cm in young children and 1.5 cm in older children and adults and freckling in the armpits and groin are common as are lisch nodules in the iris of the eye. (I have all of these)
NF1 is the least serious form of the condition and carries few complications. The main worry some have is where the neurofibromas my appear. These however can be removed. The one I had removed was on my back and thanks to bio oil the scar is virtually not noticeable.
NF1 occurs in around 1 in 2000-3000 live births in the UK. NF2 which is the more severe form of the condition and carries greater complications occurs in 1 in aprox 80,000 live births. NF2 can in a small number of cases lead to some for of paralysis
So what are the effects?
People with Neurofibromatosis can be affected in many different ways.
1. There is a high incidence of learning difficulties in people with NF. It is believed that at least half of those with NF have learning difficulties of some type.
2. Increased chances of development of petit mal epilepsy
3. The tumors that occur can grow anywhere a nerve is present. This means that some of them grow close to the surface of the skin and will be visible and they could grow where they can cause other complications. In the latter case they are likely to be removed for the patent's safety. Ones on the skin will cause no real problems but sufferers can elect to have them removed.
So what can be done?
As the condition is genetic there is no cure for it and things like blood pressure, vision and a vision field test need to be done regularly. It is more about keeping an eye on and managing the symptoms. This may include the removal of a neurofibroma if it is necessary. So far not had any major issues with it but the check ups are always at the most inconvienient time.
Even though the neurofibromas are, at times, called tumours the vast majority are benign and less than 10% of those with NF develop a neurofibroma which is cancerous.
So how do I feel as a 'sufferer'?
Well after the annoyance of it taking over 30 years to diagnose it this really fell into feeling no different than before. Ok so I now know I have a genetic condition but when it comes down to it at least I now know what it is and what to do about it even though the name is somewhat of a mouthful. On top of that it's not as though I'm actually ill. Hence the reason I have referred to this as a condition rather than a disease. I also know that it isn't exactly going to kill me either. I think some of this was due to the fact that I did some research on the condition after I was told I had it also helped as the medical sites I looked at were helpful in finding out what it was etc. Mainly it is all the annual check ups on it that get annoying as they are always at really annoying times.
I can remember getting the micky taken out of me when I was at school due to the café au lait marks as I and no one else seamed to know what they were. Now as a adult even before the diagnosis I had begun to refer to it as a pigmentation disorder - I was nearly right. Really it is just part of who I am.