Does my son have NF1 – Neurofibromatosis Type 1?

I did not know what Neurofibromatosis Type 1 is until I Googled something…

The night before last, I voiced my concerns to my other half about Master A. I noticed that he had then four brown marks on his body..they are small but certainly about half a centimetre each..one a bit bigger. My other half agreed that it is something to see the GP about.

I wasn’t overly worried about them before, not until I noticed he was getting one on his face. Wasn’t particularly happy about that but still, could be worse. I then was googling something about my own skin and a picture of what looked like his marks popped up in Google images. It was telling me they could be cafe au lait marks.

Cafe au lait marks are the main symptom of Neurofibromatosis Type 1 (NF1). See the NHS website for more info. I have since spotted two more, one on his groin and another on his thigh.

What with Master A’s speech delay, another symptom is learning difficulties, I am rather concerned. So yesterday I took him to the doctors. She wasn’t overly concerned but she then told me that they look like freckles/birth marks..what are cafe au lait marks? That! So I voiced my concerns and she agreed to refer me to the paediatrician even though she still wasn’t overly concerned.

I now have to wait about a month to see the paediatrician. I am happy to say that it isn’t usually life threatening just something that the poor boy has to deal with for the rest of his life.

So I am putting this here on my blog to first of all find out what other people think it could be. Is there any other explanation as to why Master A is getting these spots?

I am also keen on finding out whether any of you have had experience of this condition as I am the kind of person to know exactly what’s involved and what to do. Even if Master A doesn’t have this condition, perhaps it will help others.

Thanks all. I won’t say roll on a month’s time as it is the Summer holiday and I am making sure my two little ones have fun!

Here are some photos..

6 comments

  1. Sam Cornford says:

    I have NF1 which I passed on to my daughter. They won’t just go on the cafe au lait spots as these are quite common for anybody, they have a list of symptoms and if they tick off two, they say you are more than likely to have it. Please email me if you like, I don’t claim to know everything but will answer any questions if I can X

    • Kelly Wiffin says:

      Thank you. There are other things that do cause me a little concern but I am not too sure whether I am making these things bigger than what they are. It is hard to put things into perspective what with the not knowing. I will be taking a list of questions with me.

    • Kelly Wiffin says:

      Thanks, no answers. I have to wait until the beginning of October to see the paediatrician. I phoned the doctor yesterday as it is affecting day to day life what with the not knowing. That is the worst part at the moment, if I had the answers then I can and have to deal with it better. Thanks for thinking of us x

  2. Kellye says:

    I have NF1, does your son have any of the other symptoms? I know it’s a difficult thing to research because each person with NF can have such different experiences with it. My siblings and a parent have it as well and all of our experiences have been pretty different. You are welcome to contact me if you’d like.

    • Kelly Wiffin says:

      Thank you. There are a few things that are causing me a bit of concern that are like the other symptoms of NF1 but I think I will wait until he sees the pediatrician.

      Thanks again x

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