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Neurofibromatosis 1!

(22 Posts)
Booville3 Fri 21-Mar-14 20:52:52

Hi all, I've read the few threads that are already on mn re. this subject however most discussions are "old" & few threads were concluded in anyway!

I've posted briefly before as ds2 has large cafe au lait & I was wondering what people knowledge was re what this could mean. Id told myself when we attended paeds consultant appt last week that we would be told ds was fine & not to worry, obviously this was wishful thinking as one of the first symptoms of nf1 is indeed these patches, we've been told diagnosis unlikely to be made either way until ds 5/6yo - I am panic stricken how can we wait 5 years with this hanging over us, I'm constantly stripping ds off looking for further patches developing, I am going to make myself ill with worry! So generally I'm wanting some advice or info from people more knowledgeable/ experienced with children with this condition!!

Help anyone?? Please??

Cocolepew Fri 21-Mar-14 20:57:17

My dh and dd has NF1. There needs to be more than one cafe au lait mark, freckling in groin and armpits, largist head circumference amongst other things .

Loads if people gave cafe au lait marks, Im not sure why you seem to think its NF from your post? You seem a touch hysterical tbh.

Booville3 Fri 21-Mar-14 21:09:33

I only think this because this is what the consultant has suggested that this large cafe au lait is potentially the start of more as he didn't have it from birth, if he'd been born with it they wouldn't be so concerned.

Are both your dc's well? How old were they when they were diagnosed?

Booville3 Fri 21-Mar-14 21:10:53

Sorry your DH & dd well not your dc's shock

Cocolepew Fri 21-Mar-14 21:16:09

Yes they are both fine. DD was born with a large mark on her arm, we knew what it was because of DH. She got an official diagnosis at 3 months, shes 16 now.

Try not to dwell on it or get too stressed.

Booville3 Fri 21-Mar-14 21:24:56

I suppose because of your DH having the condition maybe it was easier to diagnose but I still don't understand why they can't decide one way or another whether my ds has it or not? Blood test would surely decide it, it varies greatly how people with the condition are effected, best just put it out of my mind i suppose.

Thanks for posting.

Cocolepew Fri 21-Mar-14 21:28:46

A blood test wouldn't, its diagnosed on characteristic symptons.

Booville3 Fri 21-Mar-14 21:34:21

Oh I thought with it being genetic some sort of blood test would confirm it either way? Ok well it's hard I guess at 6mo as plenty of time for more cafe au laits, freckling to appear, he is only small still bless him but that could just be his natural build I'm only small! Think his head is normal it doesn't look out of proportion as such! I wish consultant hadn't really told us about it but again I guess she had no choice!

Cocolepew Fri 21-Mar-14 21:37:55

Try not to be too concerned, as you have said there are very wide variations with it , don't presume the worse.


Theonlyoneiknow Sun 23-Mar-14 14:16:13

Both my DC have more than six cafe au lait marks. When the doctor commented on them I said that I also have them (and underarm freckles, inner thigh freckles) but had no idea they meant anything. We were referred as a family the geneticst. After a long and stressful wait we were seen. The took a blood test from me (age 41) as was pretty certain the DC both had whatever I had. Turns out wasn't neurofibromatosis but Legius syndrome / spred1 which also has the cafe au lait and freckles. Similarities end there though and those are the only symptoms, along with possible bigger head than normal and maybe mild learning difficulties (I dont HaVe either of those).

Have you seen a genetisct?

Booville3 Sun 23-Mar-14 14:25:30

Hi thanks for posting, no they have made no suggestion of anything other than watch & wait!! I'm not a patient person & waiting potentially 5 years for a diagnosis is not going to be easy!

Are you dc well? I'd never heard of any of these conditions before yet nf1 is one of the most common neurological conditions apparently!

Theonlyoneiknow Sun 23-Mar-14 14:31:19

Hi yes, they are fine. Just have the cafe au lait marks. I read up an awful lot about NF1 when we were waiting for diagnosis. It wouldn't have been uncommon for me to get to my forties and not realise I had it.

There is a lot of advise and discussion on the inspire forums.

Does he have only one cafe au lait? No other symptoms? That might be why they are waiting. lots of people can have a small number of cafe au lait. Its only when they have five that it can signify something else.

Because I have more than 6, as do my DC, and the freckling I met the criteria for NF1 which is probably why the did a blood test, plus my two DC have lots of cafe au lait.

Booville3 Sun 23-Mar-14 14:44:01

Yes I appreciate that I'm not sure and neither did the consultant appear to be over what time frame more might start to appear, I'm presuming by age 5 or 6 hence that's when they say they will make a diagnosis or discharge us!! I felt quite distressed following the appt & have spent many an hour stripping him off checking for the signs of more appearing!! I'm a bit calmer this weekend you just never really imagine your child could end up unwell! His cafe au lait is rather large covers almost his the whole right hand side of his torso not sure whether this is of significance or not?!

Theonlyoneiknow Sun 23-Mar-14 14:49:54

I only really know about lots of small ones, not so muchabout one big one. It is very hard to get blood from a small baby vein which is also why they don't do it when they are really young.

Is there a genetic nurse you could talk to? We had one assigned to out family inbetween discovery and diagnosis

Theonlyoneiknow Sun 23-Mar-14 14:54:33

I was on here a lot last year

Booville3 Sun 23-Mar-14 15:32:56

Ah thanks fingers crossed none of it will be needed for us/ our son! Were back at hospital in sept so will see how we get on then i suppose.

Booville3 Fri 17-Oct-14 19:07:26

After being told we would watch & wait completely out of the blue had a letter through saying our case (ds) has been forwarded to a genetics team?? Does this mean the consultant thinks he has it??

Theonlyoneiknow Sat 18-Oct-14 00:08:04

Not necessarily it might just be so they can take a complete family tree and family history. That's what happened to us

PJ67 Sat 18-Oct-14 08:21:31

Hi. I don't know anything about Nf but understand why you are so anxious. I also find it very hard to cope with uncertainty and get myself really worked up if there are any health problems with my dc's that can't be sorted out immediately. It's really hard to keep your mind off it but hopefully as time goes on you will be able to relax a bit. It's good that you are referred to genetics as they really are the experts on these types of conditions. You will hopefully get some more answers and at least it will be another opinion. Let us know how it goes.

Booville3 Sat 18-Oct-14 09:29:52

Just wish we had been given the appointment date at the same time as being informed we had been referred as now I'm checking the post everyday to see if our appt has come through!! Id put it out of my mind fairly successfully now it's there all the time again! I'm hoping this means they will perform the bloody test & we can know one way or another (i think that's what I want anyway, torn between ignorance is bliss & knowledge is power theories)!!!!

shits Wed 22-Oct-14 14:44:43

my dd, 10, has several large cafe au lait marks on her body and her doctors gave me a scare last year when they made a big to-do about them and said she may have nf. i had a friend who had suffered with nf almost her whole life so i was very familiar with it. i was already distraught at the time as dd was diagnosed with leukaemia for the second time in her life and with a much worse type than the first and we were awaiting a bone marrow donor. so i kind of understand the worry you must be going through. in the end, the doctors said she didn't have nf, i was so relieved. i just don't think i could handle nf on top of leukaemia..

KingIrving Thu 26-Oct-17 06:09:11

I know it is a zombie thread, but there are new studies emerging on how to reduce the onset of neurofibromas or reduce existing ones and I am posting the link for anyone interested.

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