Advice please - from those who know....

[ScaredOfTheFuture]

Hi,

DD has just been diagnosed with a genetic disorder (neurofibromatosis) which, amongst other things, can result in learning difficulties, concentration problems, lack of coordination, difficulties maintaining friendships etc. In short, characteristics similar to those found in dyslexia, dyspraxia and attention difficulties.

Those of you who have DCs with these problems, were they evident when your children were babies? Or is it just not possible to tell at such a young age?

DD is sitting up (has been for some time), although not crawling and seems otherwise developmentally 'normal'.

Please help, I feel like my world has suddenly fallen apart

[ScaredOfTheFuture]

I guess what I am asking is: when your DC was diagnosed, did you suddenly look back at their babyhood and think - ah, yes, of course - (s)he always did seem frustrated / distressed by noises / anxious / uncoordinated / late developer...

[ScaredOfTheFuture]

help?

[ScaredOfTheFuture]

BTW - DD is 10 months old

[smartiejake]

So sorry you are having such a hard time. can't help but bumping for you

[bunny3]

Ds was an early talker - didnt babble but went straight inot speaking proper words and sentences. He crawled at 6 months and walked at 12 months. We assumed he was very bright (he is) and were stunned when the school, in his Reception Year, referred him for an assessmnet for posssible ASD.

[bunny3]

Just reread my post. No I didnt think there was anything to be concerned about when he was a baby (he had severe eczema but that's a different issue).

[castlesintheair]

Why was your DD diagnosed SOTF? Was there any particular reason?

[jimjamshaslefttheyurt]

Hi scared. You might want to repost in the separate special needs section it tends to be a bit busier. I know a couple of people with neurofibromatosis. One severely, but that was obvious from early on (she has severe epilepsy) and the other with very mild effects - none that I've noticed - just some cafe au lait spots - no learning difficulties or anything.

ds1 is severely autistic but we think he developed fairly normally until he regressed early in his second year. He was a pretty normal baby although perhaps if anything more passive/laid back/smiley/happier than might be considered usual.

I think it's really hard to tell when they're little (sorry). We knew ds2 and ds3 were at high risk and so I watched them like hawks but I really found it hard to tell they were developing normally until they were approaching 18 months (both fine now).

I found the only way to get through that stage of watching ds2 and ds3 was to set myself targets so 'if he's not doing x by y then I'll ask for a referral'. I told my HV I would expect said referral if needed and she was supportive with that plan. IN fact they both went onto be fine. But my plan meant that i didn't watch every single thing they did. I was able to just check in so to speak on my target dates and put it to the back(ish) of my mind the rest of the time.

~Good luck.

[ScaredOfTheFuture]

Thanks Smartie. I guess I was just clutching at straws - I was hoping that I'd be able to feel more confident about the potential health problems if I could at least rule out the educational difficulties.

DD only has cafe au lait spots so far but I think most paediatricians are reluctant to give a definate diagnosis so early. I'll have to ask for genetic testing because DH and I need to know if we have NF before having any further DCs .

Jimjam - I can't believe so few people are aware of NF - apparently it is as common as cystic fibrosis. I'd certainly never heard of it. On the plus side, perhaps that's due to lots of sufferers only having mild symptoms. Does your friend with epilepsy have any other problems?

Does anyone know if there is anything I can be doing with DD (apart from the obvious) in order to 'prepare' her best for any learning difficulties she may have in the future? Obviously she is still so young, and as Jimjam and Bunny have pointed out, any problems didn't become apparent until later.

Thanks for your help everyone - I love MN; always good in times of crisis!

[jimjamshaslefttheyurt]

scared- the girl I know (through someone else) is severely disabled, but I think the severity was obvious from very early on as she has such bad seizures.

Have you seen floortime It's a good thing to find out about if you\re worried about developmental problems. Play based and the person who developed it has worked lots with typically developing children as well as those with challenges.

[TakeMeHome]

Hi there.
My ds (8) has neurofibromatosis (type 1). He was diagnosed at 10 months, and is monitored regularly for hypertension, scoliosis, fibromas on optic nerves, large head, etc (these are the usual tests). Also has his wee checked for proteins every now and again. His physical development has always been fine, and he's never shown any problem.

However, he has just been diagnosed as high-functioning autistic. The doc said this might be due to the neurofibromatosis or not, can't tell really!

Hope this helps. You can look online for the NF association which has lots of info.

Just let me know if you think of anything else you want to ask me.

[ScaredOfTheFuture]

Hi TakeMeHome,

Thanks for your message; it's good to know we're not alone. I have looked at the NFuk website, and we are currently trying to focus on the positives. This has all come about in the last week, so obviously it is early days and we're still trying to cope with the information. As an experienced NF-mum, how do you ge on with a normal, happy life without worrying about what is round the corner?

Does your DS have any physical manifestations of the NF? We're off to see the consultant again today to check DD's eyes (I think I can spot a Lisch nodule). Preumably, if she does have Lisch nodules, those combined with the cafe-au-lait marks will moreorless confirm the NF diagnosis. Isn't it absurd how your nice normal life can be completely upturned by a few innocent little marks...

[ScaredOfTheFuture]

oops get

[TakeMeHome]

Hi - sorry it's taken me a while to get back on to MN !!

My ds has lots of cafe au lait spots, which was how it was diagnosed. He also has a large head and needs big hats !! Other than that, he has no physical manifestations. My dh has NF, and he has lots of skin tags, which ds will probably get later in life.

I was so shocked when I first got the NF diagnosis. It was hard to think that my baby boy had some weird thing I'd never heard of (my dh didn't get a diagnosis till after ds was diagnosed). However, life goes on and you just get used to it.

Make sure your dd gets checked regularly for the normal things (head size, blood pressure, curvature of the spine/legs, eye tests etc)- any good consultant paediatritian will know what to look for. But don't be afraid to ask for more. We've had extra liver function tests and things, and all is ok. Just keep asking till you're happy that dd is being well monitored.

Any learning disability problems should be picked up early if she is going to get them. Just again make sure that teachers etc know to look out for the signs.

Once you get over the shock of the diagnosis, life does go on, and you just have to reassure yourself that you are doing everything you can for her. Keep asking doctors/HV/anyone !! till you get the care you are looking for and the answers to all your questions.

I'll hang about on this thread so do feel free if you want to ask me anything.

[ScaredOfTheFuture]

Thanks for getting back to me TMH; it's good to know we're not alone . We saw the consultant and he says that whether DD has NF or not, he'll only see her once a year (unless we notice something odd in the meantime). That seems an awfully long time between check-ups - I think if we find that a year is too long, then we'll think about seeing a private paediatrician or opthalmologist more frequently (funds permitting, of course!).

We're actually seeing an NF nurse/genetic counsellor next week, so perhaps she'll be able to put our minds at rest a bit more.

It must've been a double blow to find that your DH had NF, too. Although, in a twisted way, it is kind of reassuring that someone can go through life in seeming perfect health, and not even realise they have it. As far as we know, DH and I don't have any of the main signs, so (fingers crossed) we don't have it.

DD has a big head, too. Cute, but a bit big! Nothing hugely noticeable though. I didn't realise there could be liver problems as well; what were your DS's tests for?

Apologies for the grilling - knowledge is power, and all that...

[TakeMeHome]

Hi again.

Glad you've got some plans in place to see a few people.

My ds has annual check ups with the paed for his NF. It used to be every 6 months, but we were both happy to change to once a year. He has additional annual appointments for his eyes. However, we are free to contact the consultant whenever we want if we feel we need to.

Last year, we took him back to the paeds because his excema was flaring up again. We went to see a dermatologist and he did some liver function tests to check for some protein but all was fine. ds had previously had some tests where we had to collect his wee for 48 hours to get it analysed for the protetin but that was fine too.

My ds has always been in good health really. He rarely even gets colds! Having said that, of course he does have a lot of hospital appointments to keep a check on the NF, and now he has also been diagnosed with autism, he sees other people for that too.

The main thing is, when you have seen the docs and your immediate questions have been answered, just make sure you know what is going to happen and when, and make sure you leave yourself a back door, so to speak, so you know you can contact someone if you have any more questions or any concerns.

The hardest thing about NF is really just waiting to see what happens. As long as you know what symptoms could develop, all you can do is keep an eye out and be prepared to take her back to the docs when you need to. You just have to hope that she won't develop any problems, but you need to be aware of what they could be and have someone you can call if you are at all worried.

Hope this helps. Let me know if you want any more details.
Take care xx

[ScaredOfTheFuture]

Thanks TMH. You have reassured us no end! Fingers crossed the NF nurse is as positive

[TakeMeHome]

Let me know what happens !

[remembertobreathe]

Hi,

Our baby girl has also just been diagnosed with NF1. She is 14 months old and perfect, just has a few cafe au lait marks.

The worst thing is not knowing what the future will bring. We feel better after being told that the percentage of those badly affected is small.

What I read on the web is terrible.. but I think there must be lots of people out there living very normal lives who have the condition.

Anyway, I just wanted to let you know that there is someone else out there going through the very same emotions and worries and searching for advice.