I was diagnosed with this almost 10 years ago. I do, fortunately have a mild form but it effects different people by different ammounts
I used to keep a blog about this but I hadn’t updated it in almost 8 years before a quick one I put on a few days ago. I did write a piece on this for the website dooyoo but the site closed a few years ago so it has disappeared. I felt it was time to update what I have done in the past.
What is neurofibromatosis?
In 2009 I was diagnosed as having Neurofibromatosis type 1 (NF 1) it is also called von Recklinghausen disease. It is one of the most common genetic conditions and it can affect 1 in 3500 live births in the UK.
For those who don't know about it it is a genetically inherited condition in which nerve tissue grows tumours (i.e. neurofibromas) that may be harmless or may cause serious damage by compressing nerves and other tissues. Some of these tumours can also appear on the surface of the skin.
The condition is autosomal dominant, which means that it affects males and females equally and as it is dominant only one copy of the affected gene is needed to inherit the disorder. Therefore, even if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well.
Sometimes, someone can be born with NF1 due to a random gene mutation even if niether parent has the condition. If this happens it is unlikely any other children the couple have will also have NF1. However, should this happen then the sufferer can pass the NF1 gene onto his of her own children.
The most noticeable outward signs are that sufferers may have cafe-au-lait spots on their skin and freckling in their arm pits and/or groin area. These are not the same thing as age spots and they are normally there from birth or develop very early on. Also the growth of tumours on the surface of the skin on any part of the body.
What problems are linked to it?
- There is a high incidence of learning disabilities in people with NF. It is believed that at least 50% of people with NF have learning disabilities of some type. I am dyslexic but there is no real link that I am aware of between the two in particular.
- Increased chances of development of petit mal epilepsy (a Partial absence seizure disorder).
- The tumours that occur can grow anywhere a nerve is present. This means that they can grow in places that are very visible or tumours can also grow in places that can cause other medical issues that may require them to be removed for the patent's safety. Those on the surface of the skin can be removed as well but although these don't normally cause a serious health problem they can be painful.
- There is an 8-12% chance one type of tumour which can form will develop into a cancerous tumour.
The above list is not a full list but it does cover the main ones.
Well I had been to my last 4 GPs for mole, or what I thought were moles, checks for years just to make sure they weren't developing into anything more serious. Fortunately I have always been told they were nothing to worry about.
I went to my current GP back in 2009 for an unrelated rib injury to rule out anything serious (it did). Well after doing the rib check he commented on the cafe-au-lait marks I have on my skin, after I told him that I had always had them he decided to refer me to the dermatology department at the hospital just to get an expert opinion on them. I've had them since as long as I can remember so they can't be anything serious so I went ahead with the referral
Well at my appointment at the dermatology department the first doctor had a look and told me that she thought I had 'neurofibromatosis' but needed a second opinion. Well the consultant was brought in took a look and confirmed the possible diagnosis. Then they brought in a student doctor to have a look as they said 'it's an interesting case and we don't see it very often' That's all very well but I was beginning to have the best known back in Watford. I was told that it would need further testing to confirm the diagnosis.
Confirming the diagnisis
To confirm the diagnosis I had to have a biopsy of one of the tumours (neurofibromas). This was done, quite quickly and painlessly about a week after this visit. The worst part was the itching from the stiches put in afterwards. The biopsy confirmed that I had Neurofibromatosis. This lead to more appointments with a geneticist and an ophthalmologist.
I will admit I felt the appointment with the geneticist was a waste of time as he did not really tell me anything I didn’t already know about the condition. He did confirm that it was NF type 1 rather than the more serious type 2. The new information he gave me was that those with NF sometimes have larger skulls than those without. Well at least that meant I have a reason why I can rarely find a hat to fit.
The ophthalmologist appointment revealed nothing of any concern with my eyes which was a good sign. As I regularly see my optician this is kept in check.
So what do I feel about it?
Well as I was not diagnosed until I was 31 (I'm now 43) and I do have a mild case of NF 1 so it is not be too serious. I was told that many of those who suffer form NF 1 do not even know they have it, I didn’t and it was really only chance that I was diagnosed. The only thing I can say is that at least I now have a name for it.
It has not affected me in my daily life but I do have a small number of neurofibromas on the surface of my skin but most are on my back and as most of the time I ware a shirt or tee-shirt they are usually covered.
For all of this all I can say is thank goodness for the NHS so it was free at the point of care for all the appointments, testing etc.
Over the past year nothing much has changed except for a few more small neurofibromas on my torso.
I recently had another MRI and nothing concerning showed up so that is good news.
No real change over this year but let's face it the NHS has had more important things to worry about than to get me in for a scan when there is nothing really wrong with me.