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almost 3 with NF1


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#76 Ducky*Fuzz

Posted 15 September 2010 - 10:02 PM

Hi, I have NF1 as does my 6yo son.

We have been fairly lucky so far in that he doesn't seem to have any learning difficulties.  He isn't as bright in maths as his is with his literacy but he is in the top half of his class. He does have coordination problems (same as me).  He has a phenomenal memory (completely unlike me!)

Has anyone found that their NF child is over-emotional?  DS whinges and cries about things that don't really matter and is very shy (ignores people who say hello to him).  He'd rather speak to adults than other kids, but I always wondered if that had anything to do with his early speech and other kids not having the same skills.

My sister and I have been involved with Prof Norths study at Westmead since we were kids and sadly on our last MRI we found out my sister had a brain tumor cry1.gif .  I have slight scoliosis, bowed legs and I don't seem to be as strong as I should be.  I am also a prime candidate for osteoporosis.

Because of her history, I asked for an MRI for DS the other day at clinic because I wanted to know what was happening in his head and if that could give us a clue that anything could go wrong in the future.  He'll be getting one in 6 months time when he can be still for a bit longer.  

He's also going to the audiologist again, but that could be more of DH's genetic problem.  He has another appointment at the opthamologist (also at Westmead) in a few weeks. They were brilliant last time.

What problems do NF1 people have with kidneys and eye sockets? I read something briefly in a pp but had not heard of those problems before.  Unless I just can't remember.

Edited by ~*MESS*~, 15 September 2010 - 10:13 PM.


#77 Alrak

Posted 15 September 2010 - 11:52 PM

hey MESS. i am not sure about kidneys so much,

i have always been a fairly emotional person, and always socialized better with adults. people with NF can go one way or the other, they will either be fast to mature, or slow to mature. with fast to mature, you also get early onset of puberty (imagine explaining to your 8-9 y/o girl why hair is growing where it wasn't before) while slow to mature is exactly that. puberty will set on late...
if only the doctors realized that with me sad.gif something could have been done to help (my final growth spurt was at 12...) i have been 150cm since then... hormone therapy would have added even a few cm to my height


i always felt so alone growing up.. no one i knew had it, except my dad, my sister and my brother... but i seemed to be the one that suffered the most..

at the age of 20 i have about 10 or so fibromas on my body, triggered by pregnancy. my DD has one. she has had one since just a few days old sad.gif sometime in the near future it will have to be removed.

i am constantly hoping it skipped my son, who is 5.5 months old, we may not know for a few months yet... maybe years. At this present moment, he does not have "typical" characteristics if NF1.


did you girls know that, if you gave someone with NF a full body scan, where the CAF spots are is where pigmentation occurs on the nerves? and comparing my DD to say MESS's DS will be completely different. no 2 families with NF have it the same. even testing from one parent isn't enough. it needs to go back further down the line...





#78 Ducky*Fuzz

Posted 16 September 2010 - 12:00 AM

It's a bit hard to trace through the older generation who like to deny these types of things!

#79 Alrak

Posted 16 September 2010 - 11:18 AM

it is... but my Dad has it, and so does my Nan... and we don't know about further back (but we have our suspicions) both are willing to do the tests required so my kids can be tested... but i told them i don't want to risk it. i would never abort my baby with it... so why should i test for it?

My doctor also told me, that having NF means that pregnancy is not considered normal. i was in immense pain through pregnancy with DS. and my doctor told me it was most likely caused by the NF.. he thinks, and is pretty confident i have a growth in my hip area. basically only a problem when pregnant. thats why DP and i decided we will not be having any more bubs for quite a few years




#80 usand3

Posted 16 September 2010 - 01:08 PM

My DS2 has ultrasounds of his renal arteries to check for renal artery stenosis, which is an increased risk in people with NF1 and causes high blood pressure.  It was in this ultrasound that showed my sons small kidney, which may or may not have anything to do with his NF1.

Mess - My DS1 (7yrs) is a bit whingy and whiney ATM and he doesn't have NF1 - LOL!!



#81 Ducky*Fuzz

Posted 16 September 2010 - 01:08 PM

I was never told that about a pregnancy.  We went for genetic counselling but then wondered why. It wasn't likely to stop us because we hadn't known any bad stories of NF.  My sister and I grew up with very few problems until her recent diagnosis.

I have had pain in my back around my hips and they suggested an MRI for that as there can be tumours down there as well.  Turns out I had bulging discs though which was a relief.  Much easier to treat.

#82 Alrak

Posted 16 September 2010 - 02:08 PM

yeah. the growths can be triggered by hormones, hence why its worse in puberty years.

#83 Puggle

Posted 12 April 2012 - 10:40 PM

I'm bumping this thread. It's been quite a while since anyone posted in here but I thought maybe we could get it going again  original.gif

Well, Lauren was finally 'officially' diagnosed with NF1 last year. It was a long time coming.

She's doing really well. Lots of CALS, and now freckling, and has developed a 'subtle' plexiform neuroma on her back. There's another tiny one on her chest, which she has had since a very young baby and that I pointed out to the Paed etc way back when and was told it was nothing ( rolleyes.gif ). She had her first MRI last year, and while it showed UBOs there was no sign of anything sinister, thank goodness.

Other than that, she's a happy, healthy, cheeky and gorgeous little 3.5 year old and is such a delight. We are involved with the NF1 research program at Westmead and are finding that really interesting. Lauren had her most recent research appointment a few months ago and has her next one when she is five (which sounds so far away but is only next year - gulp!). Lauren has an Ophthalmologist appt in May and must be due for her annual appt at Westmead soon.

How is everyone else tracking?

Edited by Puggle, 12 April 2012 - 10:47 PM.


#84 usand3

Posted 25 April 2012 - 11:11 PM

Hi Puggle

I'm so glad to hear that Lauren (although being officially diagnosed) sounds like she's doing well.  

Oscar is now almost 6!!!!  Where did that time go???  Oscar has more CAL's, freckling, 1 (possibly 2, off to the paed tomorrow) plexiform neurofibromas he also still has some developmental delays.  Mainly speech.  I've been told by his teacher and the OT that they get the feeling that he will (when he is old enough) probably be diagnosed with an auditory processing disorder.  He's bright, but the actual act of learning is hard going for him.  He has loads of friends older and younger than him but is only just starting to make friends his age at school, i think mainly due to his speech delay making communication tough.  He just had his opthalmology appointment and all was great!

We're juggling with the time/money/level of importance with which therapy to do when.

We (as i said above) are off to a new paediatrician tomorrow, which i feel so happy about.

I would've loved for Oscar to be part of the research program at Westmead...what do you think of it?

Edited by usand3, 25 April 2012 - 11:14 PM.


#85 Puggle

Posted 28 April 2012 - 10:57 PM

Hi usand3, nice to 'see' you again. Wow to Oscar being almost 6, this thread is old! That's great that his ophthalmology appointment went well. How did the appointment with the new Paed go?

I think the research program at Westmead is very interesting. It started out assessing vocab, language, comprehension, problem solving and gross motor, but the last appointment the format was changed (due to her age) and they didn't assess her gross motor (which is actually where she has had some delay although seems to be catching up). The latest session I wasn't actually in the room so I am going on what I was told afterwards and in the follow up letter but I think it was pretty much an IQ test. I've heard that kids with NF1 are more likely to have some form of learning disability, but the assessor told me that lots of teens with NF1 actually fall into an IQ range of 80-90, so below average. I nearly fell over, that is the first time I have heard that statistic. The assessor also said there is very little research available on younger children with NF1 so I think this research program is a good thing. Lauren is testing slightly above average at this stage and I do think the results will become more accurate as she ages and her ability to comprehend what the assessor is asking of her improves IYKWIM. Like you say of Oscar, I think Lauren is bright.

Lauren is behind in language compared to where her sister (a precocious talker to say the least) was at the same age, but has caught up a lot in the last year or so - probably because her sister started school last year and that meant Lauren cold get a word in edgeways wink.gif. I kept putting Lauren's delay down to being the youngest and us talking for her, rather than the NF1. She was also quite 'lazy' with sound/word formation but this has really picked up now and she will repeat a word after you to get it right - she used to simply refuse, cheeky thing! I usually think she is on track, but then sometimes when I hear her little friends of similar age talking I wonder if she is a little behind - you know how it is when you are always looking for those 'red flags'. Lauren has been going to Childcare two days a week since the start of last year and it has been brilliant for her, especially with gross motor. Her squint has improved, but is still there. It will be interesting to see if the Ophthalmologist has anything to say about it this time, we see him in two weeks.

I had a sad moment the other week. I was in the change rooms at the pool getting Lauren into her swimmers and a lady walking past did a double take at the giant CAL on Lauren's back. She didn't say anything, didn't stare but did a quick extra glance IYKWIM. It was the first time I had noticed anyone doing that and it made me a little sad and wonder how Lauren will deal with the inevitable comments and no doubt teasing in the future. She is very lucky so far that most of her CAL spots are hidden by clothing, and even when in swimmers the giant one isn't all that obvious. She has new ones and freckling developing all the time though. It breaks my heart to think of kids with NF1 being teased about CALs etc. Lauren seems to be developing quite a dry sense of humour, so hopefully that will stand her in good stead in the years to come.

To end with a rather funny but embarrassing anecdote. I'll start by saying this is something I have been dreading doing since NF1 was first floated as a possibility. I was talking away and said " blah blah blah ... Lauren has NFI" ddoh.gif. I realised straight away and fortunately it was just to my DH and he laughed and said "You always said you would do that eventually!" Oh dear.



#86 usand3

Posted 29 April 2012 - 11:16 AM

That's funny   biggrin.gif  

The new paediatrician was BRILLIANT.  Such a wonderful feeling to walk out of the appointment with the knowledge that someone's just listened, really listened!!!  She was very thorough.  Everything looks good at this stage.

With the IQ thing, i have the understanding (and i know a couple people with NF1 a child, a teen and an adult who have II from quite severe to only marginally noticeable) but that for the majority of people who have an IQ in the "normal" range there is a 40-60% chance of learning disabilities!!??

Research is key, that's for sure!!

A little girl at school in Oscar's class asked my eldest son (who's 8) why Oscar "can't speak properly" and DS told her it was "because he's smart but finds it hard to get the words from his brain to come out of his mouth because he has NF1".  I was so proud of him, i hadn't told him to say that and when he came home he was worried he'd said the wrong thing...all i could say was that it was the PERFECT thing to say!!!!

#87 Mummyto2princesses

Posted 03 May 2012 - 02:48 PM

Hi all,
I have just found this link and would like to join in the chat if possible.
I have NF1, my mother and brother both have NF1 and now my 2 daughters have it.  
My mother had it extremely severe with many tumors having been removed as well scoliosis and recently had an arm amputation due to tumor that wrapped around her femur.
It will be nice to chat to others about it in their children, although I have had no issues with it DD1 has several CAL spots, lisch doubles on her eyes also shes getting yearly MRI to monitor an optic glioma and large head circumference.
DD2 has only just be given diagnosis, she to now is getting yearly MRI's, eye checks and follow ups at the hospital (westmead children's)
Well as I have also just recently discovered that may is NF awareness month would love to be able to chat with other mums going through the same.
Thanks

#88 usand3

Posted 03 May 2012 - 11:43 PM

Hi mum2aPrincess and welcome.  It's great to hear that you've not had too many ill effects yourself from NF1, although unfortunate that your little girls are needing monitoring.  My DS2 has only ever had one MRI, i meant to ask the paed whether he needed more and if so, at what stage.  
It's great that you can attend the clinic at westmead, by the sounds they are the experts in Australia!!  It still amazes me when i hear of stories like yours that, even in one family, the severity in NF1 vary so drastically.
I just put something on my FB page about NF for awareness month original.gif
My DS2, who has NF1, is starting school soccer this Saturday.  He is SO excited, he is a little unco with his gross motor skills, but loves soccer (like his big brother) so am happy that he'll have loads of fun  original.gif

#89 Mummyto2princesses

Posted 05 May 2012 - 08:31 PM

Hi usand3,
The variety of how NF1 affects people is so large and honestly I didn't take much attention of it as we never had many issues.  Until recently when my mum went through what she did.  The funny thing is she didn't know she had it until she was in her 40's - she just happened to be at a hosp where a little girl had it and noticed all the cafe au last spots and the fibromas, so from there she got her diagnosis (being spontaneous) and the 2/4 of her children have it (me being 1)
Sometimes I feel awful and selfish for having my girls and knowing that NF1 can be so unpredictable so having no idea what the future holds for them.  I just pray and hope for the best that it is very mild .
That is so great that your DS2 can get out and play Soccer -  How did it go today bet he had a great time and it was super cute to watch. :-)

#90 usand3

Posted 05 May 2012 - 09:39 PM

Oh mum2aPrincess i hope that my last post didn't come across offensively...i didn't at all mean it to!  To me, it doesn't matter whether you know there's a higher risk of a child having NF or not, i suppose i just never knew anything about genetics until i found out DS2 had NF and now i've learnt a little about it, it amazes me, that is truly all i meant in my post.  I have a DD who has health issues as well and who has had many, many genetic tests but still has no diagnosis and the unknown is awful sad.gif I can guarantee you i feel guilty and worried at times about what i've done wrong to cause 2 of my children to have "issues", it certainly makes it very clear to me that anyone can be afflicted with anything!!
Hmmm...i don't know if that made any sense at all and i hope i haven't made things worse, but i love  talking to other mums, like you girls, that are treading the same unknown path as me.  It certainly helps to feel less isolated x

ETA - Soccer was great thanks, DS2 was SO excited...all the little boys had no idea what to do but eventually started running around after the ball.  DS2 had a  huge grin from ear to ear the whole time, even though by the time he got to where the ball was it was already down the other end most times  original.gif

Edited by usand3, 05 May 2012 - 09:45 PM.


#91 Mummyto2princesses

Posted 05 May 2012 - 09:58 PM

Hi,
No I took no offense at all, I didn't even think of it that way, sorry if my post made it seem I took it the wrong way, I was just agreeing with what you said about the severity differinf in any family as I guess I was ignorant myself to the true manifestations of NF1 until I had my daughters and actually investigated more (never ally did as I have had not many sideaffects myself).  Also my mums more serious has come up in the past few years and again after I had my daughters
I am sorry too if what I wrote came across that I was offended, sometimes what I write and think does not come across as I intended.  wink.gif
I too am glad to have found somewhere to talk to others and also see what experiences others are having to see what is available to us.
So glad your DS had a Fun today, looking forward to when my girls do that my DH would love for them to play soccer too.  biggrin.gif

#92 usand3

Posted 05 May 2012 - 10:29 PM

Oh thank goodness  original.gif

My husband loves soccer and both my boys have caught the bug, we encouraged our DS1 to try other sports but he always comes back to soccer!!  DS2 has had to go and watch his big brother play so many games of soccer that he was itching for his turn!!  I think the best bit for DS2 is that he gets to be part of a smaller group of kids from his class which will allow him to get to know these kids a little better.

#93 Redbonnie

Posted 05 May 2012 - 11:46 PM

Hi, I have read this thread with interest, and hope you don't mind me posting and asking a question.
I have a DS (6), who has been diagnosed with ASD since 2.5. At one of our many paed appointments early on in the piece, he saw that our DS has a cafe au lait mark on his face, and asked me about this. This one is the darkest, but he has at least three other ones that are quite faded looking. For all I know there could be more, especially when I read from a PP that doctors can search using a special lamp (?). Basically, our paed mentioned that these marks are associated with NF, but, as our DS didn't have six of them, that it was OK (or words to the effect). With everything else going on in our DS life with the ASD diagnosis, I had 'forgotten' about these marks and what they could mean.    
I have no idea about the genetic background in my husbands or my family relating to this and whether it is even a possibility that our DS has NF.
IF we wanted to investigate further whether this is a possibility, where would we go, or who do we have to see (in terms of medical professionals)? We are in Brisbane.
Thanks for any input, advice or suggestions.


#94 usand3

Posted 06 May 2012 - 12:22 AM

Hi Redbonnie - I am pretty sure it is over 5 or 6 cafe au lait marks.  Some of my sons aren't huge and some very pale.  You need to see a paediatrician who will then refer you on to a clinical geneticist.  That was the process our sons diagnosis took anyway.  
50% of cases of NF1 are spontaneous mutations in genetic material at conception, while the other 50% are handed down from a parent who has NF1.  So any one can have NF1.
I'm not sure about a special lamp for seeing C-A-L marks, but while we were waiting for the genetics appointment we were sent to an ophthalmologist who checked DS2s eyes with a slit lamp which shows up lisch nodules (pigmentation on the iris), which are another harmless diagnostic criteria for NF1.  The Ophthalmologist also checked for any signs of an optic glioma (tumour on the optic nerve), we now have these checks annually.
Good luck and feel free to ask if you have any questions that i've not answered original.gif

PS the Childrens Tumour Foundation have some great resources on their site!

ETA I'm in SA so not much help for Brisbane specific help

Edited by usand3, 06 May 2012 - 12:25 AM.


#95 Puggle

Posted 07 April 2013 - 08:41 PM


Hello, I hope everyone is tracking well.

Lauren is having an MRI this week and I'm very nervous about what they are going to find (I know there's something going on very close to her right eye and I'm very worried about the extent/impact of it)

Just thought I'd post a link to a NF1 FB group that I was made aware of a few months ago. As more people join there is more information to share so I encourage those of you with FB to join too.

If this link doesn't work, search for:

Children's Tumour Foundation (NF Australia)

#96 Mum_of_five

Posted 13 April 2013 - 09:20 PM

My mum has NF but has never spoken about it, unfortunately she was brought up to ignore it and I didn't find out til I was in my 20s that it was hereditary in our case.. My grandmother had NF and her mother, but can't trace further back.. I had genetic testing and don't have NF but 2 of my sisters do, and a lot of my cousins as well...There is a Neurofibromatosis Association of Victoria and they sent me out information when I first found out NF was hereditary in our family.. My mum has NF pretty bad and is one of the extreme cases.. Out of her and her 3 brothers, only one didnt have it.. Not many people know about NF.. If you would like to pm me i can tell you a little about my sister growing up and how it affected them.. One of my sisters didnt get the lumps until she was in her 20s.. Pregnancy also causes more lumps to grow which happened to both my sisters..




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