[usand3]

I have a little boy with nf1 he was diagnosed around 12months and is now almost 3. don't know many people with kids with this and as is so varied would be nice to chat to others. O has GDD of around 9 months, 1 little plexiform neurofibroma and some thinning of renal arteries at this stage. new mutation.

[Crocmonster]

I don't know that I have ever seen any other NF parents on EB sorry. My (almost) 9mo son is seeing a geneticist at the end of the month and NF1 is one of the things they are looking at.

I doubt we'd get a diagnosis yet unless we to a screen for the genetic mutation but so far we have 2 large CAL spots with what looks like 3-4 more appearing, slight freckling under one arm, short stature and large head. My cousins daughter (now 15) has NF1 so although it's not an immediate relative it's in the family.


I have no idea if we will end up with the diagnosis but I'm happy to chat either way Can I ask what it was that alerted your son's Doctors to look for NF?

[usand3]

I mentioned to the CYH nurse that O had some birthmarks, thus started the process of being sent to the gp, then paed and eventually genetecist. O has quite a few CAL spots only about 3 are bigger than a 50c piece, then about 20 ranging up in size from a pin prick. When we got to genetics they diagnosed, what we believed was a slightly raised and hairy CAL as a plexiform neurofibroma, thankfully this is only superficial (at this stage). He also has lisch nodules all of which confirmed his diagnosis. I'd not heard of nf and by the sounds, he's quite young to have some of these manifestations. Although, at the moment we're lucky as, other than EI for his GDD he's really healthy. Loads of check ups though!! Thanks so much for your reply. A friend told me of EB and after looking, and becoming instantly addicted, thought I would see if i could find any other parents of kids with NF1.

[Crocmonster]

It must have been such a shock for you. We are lucky I suppose in that we have known about NF1 and what it entails for many years so if J does get the diagnosis we don't have to go through the motions of learning about it first. My cousins daughter was diagnosed at about age 3 from memory.

Seeing the large CAL spot on J's hip worried me and because I knew what it could indicate I kept my eye out for more. Our paed doesn't want to speculate until we see the geneticist but he did say they would be 'very interested' to know of the family history of NF1.

Can I ask, did they put O under a woods lamp? If so, did they see the CAL spots forming? The two large ones that J had kinda just appeared from birth. He does have about8 other spots that I am not sure are just normal freckles or whether they are CAL spots forming. Did O's CAL spots fade in and get darker or were they all tiny spots that grew bigger? I hope that makes sense lol. It's just that I didn't see J's two large ones grow, they were just there. I don't know if they were small flecks that got bigger or if they were always the size they are now and just got darker?

He has what I think is another large one on his tummy. Sometimes I see it and sometimes I don't but when I do see it, it's aways the same shape and size. It's strange to look at, it's just an area of his skin that is browner than the rest. His left foot is also covered in freckles which is rather odd! He has a few other things going on that aren't typical of NF too so we're kind in limbo until we get the testing done.

J also has GDD but as he is only 9mo it's hard to say how much he is affected. Socially he is fine but physically he is delayed.

From what I understand, your son is very early to get a diagnosis which is a good thing in a way. As you said, they can start IE and keep an eye on things for him now. Did they give you the diagnosis straight away or did they wait until they had confirmed it with the genetic testing?

Have you been able to find any support groups?

[usand3]

Yes, it was a huge shock. Especially when I googled it and saw some really severe cases!! just seemed to notice O's bigger CAL spots, not actually sure when, but since then i've noticed some start out as tiny freckle like spots that get bigger and some bigger ones i've noticed firstly outside or under a bright light, and they've gradually darkened. No, no woods lamp.

We've not had genetic testing. They diagnose it clinically, as long as you have 2 or more of the main manifestations, it's a positive diagnosis. So with the CAL, PN and the LN (they are on the main list) the genetecist said there was no doubt.

O had lot's of other health problems when he was born (short term ones). He was on O2 and NG feeds for bout 2 months for mecc. asp. then bronc, and we put his FTT down to that but i've since heard that loads of kids with NF1 had FTT in the 1st yr too. I've joined a support group but it's small and although they're lovely there's only 2 other members that have little kids mostly over 65 which is great but it's kind of nice to speak with people who have younger kids too.

O has pretty good social skills and as he's not huge most people don't think there's anything wrong, but are shocked to hear he's almost 3.

It's mainly just scary when we have our appointments there always seems to be plenty of them although other than PT, OT and ST the rest are only every 6 or 12 months.

[Crocmonster]

Thanks for the info on the CAL spots. I was looking at J's today (I check them out every week or so) and some of them are definitely growing whereas others are still in the pinhead stage.

J has an odd lump on his lower back that I think is going to be of interest when we see the geneticist. I'm not sure if it's a shagreen spot or PN or something entirely unrelated. It's just a small spot that looks like overgrown skin and is slightly darker than the rest of his skin. It's raised and kind of leathery in feel. Strangely though, it looks as though it's actually starting to fade a little now so who knows what ut is.

J was born five weeks early but was about the size of an average 32 weeker. He's still very short but isn't FTT, his weight isn't too bad at all. He's fully BF though and at 9mo is just not interested in food so I suspect his weight is going to slip back a little if he can't get him to start solids soon. He has recently been referred to an OT an ST because of his delays.

How did the rest of your family cope with O's diagnosis? Are you finding that you're having to explain it all to them over and over or do they have a good grasp of what NF is? We haven't told our families that NF is possibly on the cards for Jonah. There are still a few possibilities of what it might be, and it still could be nothing but NF and tuberous sclerosis are currently the front runners. J has four ash leaf spots as well as the CAL spots.

I think we will need the genetic testing with J, unless that spot on his back does turn out to be a PN. And I hope they do do it to either confirm or rule it out. I don't want to be waiting for years, checking him under a microscope every week looking for more CAL spots!

I wonder if there are actually other people with NF kids on EB who haven't come forward because they didn't think anyone else was here??

[usand3]

How scary having a prem. Oscar was born the day before his due date at 8lb3oz but he's pretty little now. He has a slighly larger head circ. too. My family are pretty good. Although my husband leaves it up to me, i don't know if that's just a male thing. Sometimes it would be nice 4 someone else to have to stress and make the decisions though !! My family are good but i think they feel it's really nothing and if i forget about it it might go away!! LOL. We have two other kids 4 and 5 so they are really too young to get it although my 5 yr old called out to me yesterday mum mum oscars got something on him i cant get it off. It was his little tumour, very cute!!

Is your partner supportive? It helps alot. It sounds like unless the opthalmologist finds some LN or that the spot is a PN it might be hard to make a definite diagnosis without genetic testing. I was the same thinking not knowing for sure would be worse than him actually having it.

That's good that you've started speech and OT. Do you mind me asking how often you see ST? Would be great if more people came forward with NF kids!!

[secretwishes]

hi there i actually have the nf myself and have a b 8 who also has it and has learning difficultys at school from it...its very frustrating trying to deal with it constantly and having other kids also. .my b 8 was diagnosed with it about 3 yr ago from when he started school(repeated) so has trouble reading and doing maths writing things down and looses concertration easly and gets frustrated to..

[usand3]

Hi it does get frustrating, doesn't it. Is it ok to ask if your child has any other health problems related to nf? At the moment oscar is having speech about every 4 to 5 weeks through a government agency. I'm wondering weather or not to pay for private speech so that he can have it more regularly as i'm thinking this may help him catch up a little by the time he starts school? Any opinions or advice on this would be great! He'll start hydro next term privately for his gross motor dev.
I don't know about you but i feel guilty at times because i seem to spend more time on Oscar (with NF) then my other kids. It's hard to spread yourself between all the kids, my husband, appt's funnily enough the house work is coming a distant last in the fight for my attention at the moment LOL

[secretwishes]

yes its very frustrating my b 8 gets really upset somtimes when he knows he is in trouble ,he does have a bit of a temper ,he cant explain to me why he has done somthing ,he has a hard time writting letters and numbers and doing reading at school he cant rember some simple words,altho he can be a really smart one on the odd occasion ,he has some language problems and motor skills where it took ages to learn for him to hop ,skip etc....and still has problems in doing his exercises in class in the morning where he touches left hand right foot and such.....as he gets time out of normal class to get some one on one help with school work and helping to read and write and maths skills with other kids ,,,,he has the cal spots on his tummy and back ... any extra help u can give ur child will be great for them when it comes time for school as they wont find it so hard so speech therapy will be a great idea for sure.. i agreee 100% on that...i try not to feel guilty and i do my best to share myself around as i too have other kids 3 extra b 6 g 4.5 and b 18mths so i find it hard there to spend the time i need to with them all but my hubby is a good help he tries his best to help me out.....

i am hoping the other kids r all ok b 6 seems healthy enough and does well at school and the others g 4.5 is doing well also and so is b 18mths and seems healthy altho when younger he was having problems with formula where he couldnt digest the protien in them so is on a special formula now and doing great so we cant give him normal milk at all pains in belly and screaming match no sleep ...lol,,,,,,,chesse seems ok and so does custard odly enough,,,,i think the formula compensates for it ..

and on top of that all i have had to deal with the nf my all my life was born with it ,,,,it can also effect bones ...