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Neurofibromatosis?

(10 Posts)
MustTidyPlayroom Mon 08-Oct-12 21:38:59

Please bare with me as this may be a bit rambling.

DS1 (7) had an appointment with the occupational therapist and paediatrician last Friday. DS has always struggled a little with fine and gross motor skills and for some time I had suspected mild dyspraxia. We've worked a lot on the gross motor skills and DS managed to get 50th centile on the tests. They did identify some fine motor problems and will be sending an OT into school to put some things in place to help him out.

So, to get to the point, the paediatrician spotted a birth mark (cafe au lait) on his leg and asked if he had any others - I mentioned three on his side and upon examination the doctor found seven.

So, she suspects NF1. She started off saying she wanted to rule it out, but after speaking to one of her colleagues it seems that she is working more towards confirmation and is arranging further tests at the eye clinic.

I have worked myself in to a real state with the help of google (malignancy, leukeamia, 15 years of life expectancy) DH is burying his head in the sand and is convinced that there is nothing wrong and won't talk about it.

Looking at the signs DS does have some but not all-
- general clumsiness and problems with fine and gross motor control
- the birth marks
- large head
- no learning difficulties - except he is awful at spelling (although way ahead with reading and matts)
- can be rather emotional

On the other hand though
- he is tall
- make friends easily
- is generally bright

I am probably going to go slowly mad until we get the next appointment through and was hoping that one of you might know more than google about it - thank you.

mrsfuzzy Mon 08-Oct-12 22:58:37

three of my kids have this condition invarying degrees, like you, i was sent into a state of panic with the first one, the paedi checks didnt really reassure me and i pushed for genetic counselling, which assured me that alot of what i,d read was bull, people with nf1 like our kids, do encounter problems but not to the degree that some of these web sites would have you believe, 15 isnt the typical life expectancy and many adults have this condtion, my first husband and eight members of his family have it and they are in their 50s/60s with very few nf related problems. do yoursel a favour sweetness and stop reading google pages, get the facts from the neurofibromatosis association and ask the paedi lots of questions, good luck.

MustTidyPlayroom Tue 09-Oct-12 07:05:22

Thank you mrsfuzzy, I'm feeling a little more reassured. I just need to get the tests done and know one way or the other.

I've just realised that I wrote "15 years of life expectancy" not "15 years off life expectancy" - which are two different things.

I've read the info on he NF association, but it's like I'm on a quest to find and convince myself of the worst case scenario.

minmooch Tue 09-Oct-12 07:32:54

I have no experience of this (my son has cancer) but any diagnosis that has a long term affect on your child's life is frightening. I hope you get all the information from the right sources so that you can start understanding what this means for you all.

Wishing you strength.

MustTidyPlayroom Tue 09-Oct-12 15:02:51

So sorry to hear about your son minmooch - thank you for your reply. I'm feeling a little calmer today.

cocolepew Tue 09-Oct-12 15:13:58

My Dh and DD1 (14) both have NF1. The varying degrees of it are enormous.

Concentrate on the OT stuff but don't worry! My DD is very emotional but she,also has autistic traits .

She is friendly , happy and very, very bright.

It is incredibly common, a lot of people don't even realise they have it.

We have the contact number of a genetic nurse who has always been on hand to answer any questions, DD sees the genetic Drs every 2 years.

PM me if you ever have any questions smile

twilight81 Tue 09-Oct-12 20:20:27

I have about 7 cafe au lait spots... Does that mean I might have it? My ds aged 2 has a huge one on his leg but no others as yet... Mine appeared as I got older I think?

cocolepew Tue 09-Oct-12 21:09:41

They have to be over a certain size (50p piece?) And you should have freckles under your arm and around your groin, heads are slightly bigger too. I can't remember anything else!

twilight81 Tue 09-Oct-12 21:53:07

Mine are no bigger than a 10p I'd say and no freckles!! smile
My ds is around the size of a satsuma but only the one.

cocolepew Tue 09-Oct-12 22:29:38

You definitely need the freckling smile

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