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almost 3 with NF1

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#1 usand3

Posted 03 April 2009 - 10:45 PM

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.

#2 Crocmonster

Posted 04 April 2009 - 07:35 PM

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  original.gif  Can I ask what it was that alerted your son's Doctors to look for NF?

#3 usand3

Posted 04 April 2009 - 09:34 PM

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.

#4 Crocmonster

Posted 05 April 2009 - 10:21 AM

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?

#5 usand3

Posted 05 April 2009 - 08:50 PM

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.  happy.gif

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.

#6 Crocmonster

Posted 06 April 2009 - 04:49 PM

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! blush.gif

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??

#7 usand3

Posted 08 April 2009 - 08:36 AM

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!!

#8 secretwishes

Posted 08 April 2009 - 10:57 AM

hi there i actually have the nf myself  cry1.gif  and have a b 8 who also has it  sad.gif and has learning difficultys at school from it...its very frustrating trying to deal with it constantly and having other kids also. unsure.gif .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..

#9 usand3

Posted 08 April 2009 - 11:46 AM

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  happy.gif

#10 secretwishes

Posted 08 April 2009 - 12:44 PM

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  cry1.gif ,,,,it can also effect bones ...

#11 Brat

Posted 08 April 2009 - 01:03 PM

I'm sorry you are allhaving to deal with this. My MIL has NF, very bad IMO. She was diagnosed at 3 (I think), but never told anything about it. She has 3 children (one my husband) and says had she know she wouldn't have had them sad.gif . My SIL also has NF, nowhere near as bad as her Mum.

They are both extremely smart people, with no learning difficulties. SIL is a school teacher and besdies having most of her torso/arms/legs covered in CL spots you cannot tell.

MIL on the other hand has had numerous growths removed, her face resembles that of a fire victim and has 'lost' an eye. She coveres her body with long sleeves and long pants every day.

But she is an amazing woman. Does FDC, respite and foster care 24/7. Kids just don't seem to notice or care which is wonderful.

Just thought I would share my story.

#12 2littletigers

Posted 08 April 2009 - 07:38 PM


I have 2 little girls, almost 3 and 5. When my now almost 3 year old was about 12 months or so I took her to a paed because she was showing signs of not sitting properly and her crawling was quite late. She ended up being diagnosed with a short adductor? muscle which made it difficult for her to sit properly and then crawl. However, while I was with the paed he pointed out that she had 2 CAL spots. One is quite large on her tummy below her belly button and radiates to the right of her midline (it has a distinctive straight line down the middle and an irregular outline on the other side).The other is much smaller.

He explained that these are sometimes the first sign of NF1. I've kept a close eye on her for any further developments but so far (touch wood) there seems to be nothing. I guess my question is can you have these marks without having NF1 or at some point will she develop other symptoms associated with the disease? There is no family history and her cognitive/gross and fine motordevelopment has been fine.

Thanks for putting your stories up. I hadn't heard of it any where else so was interested to read your stories.


#13 Tan17

Posted 08 April 2009 - 09:19 PM

Hi ladies

I have a 12 year old boy who has NF1.  There is a big family history - Grandfather, his father, 2 uncles and 2 cousins all have NF1.  DSs Grandfather had the lesions all over his body and some in his ears.  His father had 2 big lesions removed from his back years ago but the others just have CAL spot.  DS unfortuately, had a brain tumor which was related to NF1 removed when he was 6 and it was cancerous.  He also has Cerebral Palsy and learning problems but that is related to his birth.  

Natalie CAL spots are one sign but also if they have NF1 they have orange spots on their eyes - an eye specialist at the hospital told us that.  Maybe it might be worth getting her eyes looked at.

#14 Puggle

Posted 08 April 2009 - 10:22 PM


A friend sent me a link to this thread (thank you original.gif).

My DD2 (five months) is due to see a Paed at the end of this month to assess her and possibly recommend us on to other specialists.

Lauren has recently developed numerous CAL spots including a giant one that covers most of her back. Lauren does have a large head for her age but she is also quite long/tall so it is in proportion apparently. She seems very happy and healthy and is meeting all her milestones. The only thing that I can pick that is different to DD1's development so far is that Lauren does not have quite the same upper body strength that Claire did, but I'm pretty sure Claire was ahead of herself there so I'm not worried.

But I hate this not knowing part. I'm dreading the appointment yet looking forward to it too because it would be nice to have some answers. I'm sick of automatically searching my baby's body for more spots every time I change her nappy or bath her  sad.gif.

It is good to read a thread of others real life experiences. Google has an overload of information, most of it quite scary so I'm trying to steer clear of it for the moment. Thank you for sharing your stories.

#15 usand3

Posted 09 April 2009 - 12:26 AM

Oh wow am so excited (maybe not the appropriate word, but can't think of another one) that there are more of us out there and that people can understand what i'm going through.  I always tell people when they ask about it that nf1 is everything and nothing at times it takes over my life (when we have lots of check ups especially) and i'm overwhelmed with worry for my son and at other times i wonder if it's actually there and real!!.

Puggle - the not knowing is definately a killer even when you do have a diagnosis, but atleast you can start dealing with it then.  My paed sent us for ultrasounds of the renal arteries (to look for thinning), to an opthalmologist (to look for optic glioma and lisch nodules) and also to a clinical genetecist, to confirm the diagnosis. From what i was told you need 2 manifestations of nf1 for a diagnosis CAL spots can be one (i think some of the others can appear later)  The most positive bit is that as long as you keep up with check ups there's a really good chance that most things will be ok and problems minor.  (i'm still trying to convince myself of this at times LOL).

Natalie - i'm not sure if you've already had other checks but from what i understand and as tan17 said they can have lisch nodules (spots on irises) aswell as other manifestations (mentioned above) that if the dr or genetecist looks for can assist in diagnosing nf1.  Our paed referred us to clinical genetics at our local childrens hosp and i found them fantastic and really thorough.

thankyou all so much for sharing your stories it is so good to be hearing about other peoples experiences with nf1. happy.gif

#16 Puggle

Posted 09 April 2009 - 12:47 AM

Thanks usand3.

Can I ask what sort of tests the Geneticists did?

Also, what states do you all live in? We are in the ACT but have family in Sydney so may well be traveling there for some appointments.

Oh wow am so excited (maybe not the appropriate word, but can't think of another one) that there are more of us out there and that people can understand what i'm going through.

I understand what you mean. I had the same issue with using the word 'good' to describe this thread.

#17 Crocmonster

Posted 09 April 2009 - 12:08 PM

But I hate this not knowing part. I'm dreading the appointment yet looking forward to it too because it would be nice to have some answers. I'm sick of automatically searching my baby's body for more spots every time I change her nappy or bath her

Oh, Anne I know exactly what you mean. I am so nervous about Jonah's appointment yet at the same time I was getting so annoyed because it was so late in coming! The day they called us and told us of the appointment date I really fell apart. I've been so anxious to get it over and done with but now that I know it's coming it's so hard to deal with. I just don't know if I am prepared for what they are going to tell me.

I also check J's body for new spots and dots. I don't do it every nappy change now, usually once a week or so. I am starting to see things though and am sure I am convincing myself that there are spots and shades where there really aren't any blush.gif

Tan17 are your other children being tested for NF as well? My worry also is thast my 4yo also has CAL spots. They are not as big as J's but they are definite and very easy to see. He has five that I can find, all over different parts of his body. Do any of your other children have CAL spots?

I guess my question is can you have these marks without having NF1 or at some point will she develop other symptoms associated with the disease?

You can defititely have CAL spots and not be affected. That's why you need at least two of the major NF symptoms to get a +ive diagnosis. You need 6+ CAL spots, each being greater than 5mm pre puberty or 1.5mm post puberty plus at least one other symptom or a +ive genetic screening.

I did read somewhere though that it's rare for the general population to have more than three CAL spots and not be affected by something.

Thanks for your input too, Brat. Have your children been tested for NF?

#18 usand3

Posted 09 April 2009 - 12:37 PM

Hi puggle - The genetecist just really put the results together from the tests the paed ordered and because oscar had 3 of the major symptoms they were sure straight away of the diagnosis.  Although the one thing i'd pointed out to the gp, pead etc was this very slightly raised and hairy thing which looked similar to a CAL and they all brushed it off, while the genetecist straight away diagnosed it as a PN and sent digital pics of it to Professor North in Sydney to confirm that.

We now each 6 months have blood pressure and Paed appt.  Yearly we have renal ultra sound, ultra sound of tumour, opthalmologist, audiologist and genetics. We're waiting for an mri now too.  

Also Physio, hydro, orthotist 4 orthotics, ST and OT.  But wer'e pretty lucky as it's mainly preventative.

We're in SA.

I don't know about the girls with older kids, but it's been almost 2 years with a diagnosis and that fear stilll grips me every now and then that somethings going to turn up that's really bad. So i'm hoping that eases!!!

#19 Puggle

Posted 09 April 2009 - 07:13 PM

Thanks for the information re the testing - it is good to have some idea of what to expect.

Well, after vowing to stay away from Google, today I searched 'Grey hair in babies' because Lauren has had a little grey patch since birth. Turns out it is another symptom of NF1 sad.gif.

#20 Crocmonster

Posted 09 April 2009 - 07:22 PM

Does anyone elses child have any other skin markings? J has 4 white spots which are probably ash leaf spots. He was born with two on his face and has sine grown two on his back.

Oh Puggle it's so hard to stay away from Dr Google isn't it? In my searches I think I have diagnosed J with about 8 different conditions blush.gif

#21 usand3

Posted 09 April 2009 - 11:52 PM

It will be interesting to hear what the genetecist says about the white spots.  i've not heard of ash leaf spots, but you know i'm going to have to go and google them now LOL.
I try to tell myself that if Oscar has to have a genetic disorder, nf1 is quite a good one to have, as there's no certainty that he will get any/all the symptoms of it.  Although, that doesn't sound quite so sane in writing as it does in my head!!!
Oscar has his audiologist and paed appts next week and then gets his tonsils and adnoids out the wk after (for sleep apnoea).  
We had a horror day at the supermarket yest. Oscar is quite into just making a noise like a fog horn at the top of his lungs at the moment (hoping just a passing phase LOL) but a woman at the next check out gave me a dirty look, walked over to my trolley, tutted and shook her head and walked off.  I could've cried, we'd just had a big speech session and i had the 3 kids with me but you know you still have to eat.  Anyway sorry just realised i'm having a big whinge, note to self, don't take kids shopping after school/kindy/speech.  I'm always a bit "sensitive" when all the check ups roll around again.  Got the all clear from the opthalmologist last week (for another year) which is a relief.  Sorry again for the whinge, i do realise i've got it easy compared to lots.

#22 secretwishes

Posted 10 April 2009 - 09:32 AM

hi as u may or may not know i have the nf myself not sure if its type 1 or 2 but i do have the cal spots thats for sure i also have some lumps under my skin in places that have grown .(they grow on the end of nerve tissues most will not be a problem altho some may do) i myself have had one or two removed as they will hurt if u bump them and the docs wanted to see what they were exactly as at that time we didnt know what they were..i still have some lumps.... on the other hand u can also get mole type ones that r skin coloured but as far as i know they dont hurt as it my mum who has them....i was so worried when i did have kids that i would pass it on to them and would have complications thankfully enough its mostly just b 8 with learning probs and cal spots so far...others r all good with a few cal spots only and seem really smart
we did'nt really know much about it at all i still dont know a lot i do know that it also effects bones ...........

#23 usand3

Posted 10 April 2009 - 04:14 PM

i think i read that it can cause bowing and breaking of the shin bone and i think it sometimes affects the bone around the eye or eye socket or something and also scoliosis (sp),  I was under the impression (hope) that if you don't have these problems in the first year or two you usually won't be affected by them,i don't know if any of you know if that's right though.
The bottom of Oscar's rib cage sticks out alot esp. on one side, does anyone know if that's characteristic of nf1.

#24 secretwishes

Posted 10 April 2009 - 10:01 PM

hi well i do actually have the problem around my eye socket unfortunatly  sad.gif not a major diff really but its there i have had it all my life and it  really does get to u some days  cry1.gif as far as i do know unless u have problems when ur really young i think ur fine later on in life i am not at all 100% on that tho .. i do know that it does effect the bones in legs as i know of that happening .... dont know of the ribs sorry ............

#25 usand3

Posted 10 April 2009 - 10:13 PM

secret wishes - i bet it gets to you some days, but to cope with it all your life and now to be coping with it in your child, you must be strong.  i can only imagine what it would be like, at times, to have nf1.  i should go back and re read but your son is 8 isn't he?

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