AMA Neurofibromatosis

[pink412]

I suffer from Neurofibromatosis and up for answering questions (everyone’s NF is different in how it reacts and grows)

Do you have type one?

It’s NF type 1

How were you diagnosed?

At the time I was only maybe 7/8 so not sure but think it was a combination of blood tests and looking for café au lair spots seeing a specialist at the local hospital from there I was moved to a consult in Newcastle now I see them in Manchester.

My daughter has several (5?) café au lait spots, but they're quite large - larger than the size they state in the symptoms list, probably 3 or 4cm across. No other symptoms at all although she does have lots of freckles, all over. (not in creases etc, just on her face and arms). She's 12 now and I probably noticed the first when she was 9 or 10.

I've always had it in the back of my mind that she could have NF, but is it likely just on the back of a few spots?

Also, what are your current symptoms? Are they mild or more severe?

Also (sorry) her spots are very very light, don't think anyone else would notice them but I obviously do. One on her forearm, one on her shoulder blade and one on her lower leg.

@pink412 do you only have the cafe au lait spots or other manifestations? Does the neurofibromatosis have an impact on your life?

@MaddieElla café au lait spots are a sign it could be them they normally appear around that age. So I would get them checked out just in case. NF1 is in one in 3000 people most don’t know they have it.

At the age of 36 my symptoms are visable I have a large birth mark all over my face and chest with plexiform (benign tumours on my face, chest and back) it does draw attention from people when out. Meaning I have stopped going out aaa I can’t face the remarks some days (everyone deals differently with it)

@KingIrving NF1 doesn’t have to have an impact on your life. But due to other issues it had a major impact on my life dues to living in a rural area, with no public transport and no being able to drive so need transport everywhere.

Even without a direct impact on everyday life, there is the significantly increased risk of cancer.

Yes there is intact I found three more growths last night. These will need to be checked soon.

Am I still ok to ask you anything?

Can symptoms appear for the first time or be noticed first time as an adult? I came across this condition by accident.

I have 9 birthmark spots that look like cafe au lait spots, hundreds of freckles on my breasts, freckles in my armpits and creases where my thighs meet my private parts. Also have lumps under the skin, about 6 in total.

Would a bog standard gp be able to diagnose?

Thanks

@ DumbleDork I was diagnosed in my mid 40 and it would be very easy for a GP to miss it. Most GP don’t even know the NF1 typical manifestations.
An easy way would be for an optometrist to look for Lisch nodules, a dome shaped brown growth on your iris. Not every one with Nf1 has them but if you do have them, you have Nf1. Or the easiest way is to go to your go, ask for a referral for a geneticist and have the genetic blood test done.
You need to know, because there are health risk involved and you need to take precautions and tests to make sure they don’t happen or if they do, catch them .

How old are you if you don’t mind me asking and have you seen a worsening lately?