neurofibromatosis

[Snozberry]

DD (2yo) has cafe au lait marks on her neck and abdomen, about 2p sized.

I didn't think anything of them until I realised her dad has them too, along with a fatty lump under his skin which has been there since he was a child. The pair of them have bigger than average heads, poor gross motor skills and it seems to fit with NF1.

As I have health anxiety I am working myself into a state reading about it and wondered if anyone could share any real life experiences?

Would you visit a doctor with these symptoms and is there anything else I should look for first?

But to add, she has seen an optician so I assume she doesn't have bumps on her eyes as they didn't mention it, and she is tall, so doesn't fit all symptoms. Do GPs diagnose from symptoms or is there a test?

Hi, I know this is an old thread but i and my 3 year old both have NF1. They tend to say to have at least 6 or more cafe au lait marks for a diagnosis (DS had 13 by the time
He was 6 weeks old)
Hope you've managed to find some more information x

CAF spots are not enough, you need to have two markers to be identified, for examples, cafe au lait (CAF) + Lisch nodules , or CAF + armpit freckles, etc....

I just want to put a word of caution to anyone looking for a diagnosis. Unless you or your child is a severe case in which case you might need assistance, if you only have CAF, or freckles, don't pursue a diagnosis, as once you have it declared, you cannot not declare it and this will affect your life in far more aspects than you imagine.

• Mortgage (forget about it mortgage protection or insurance)
• life insurance (bye bye, denied)
• travel insurance (increased price)
• immigration visas (no thank you, we don't want you)
• jobs (forces, pilots, firefighter , police,....)

NF1 comes in many grades of severity. You can have it and be totally fine and just discover it by chance in your forties because you had a neurofibroma removed. But once you have the diagnosis in your hand, you're obliged to disclose it.
One of the longest chat I had with my geneticist was all about the legal aspects of how NF1 was going to affect my life. The geneticist discouraged me from testing my children until they will be in age to want children and let them decide if they wanted to be tested or not, as it would affect their future.

It was quite a scary chat to be honest.

So what I am trying to say is look for more symptoms and wait. Be aware of the increased cancer risks, and other issues involved, but take into consideration all the legal aspects too.

There is no cure, no magic medication, so nothing really matters once you have a diagnosis. In the severely affected person, you might need it to be allocated more time at school for learning difficulties, or help for skeletal issues, but if you only have CAF or freckles, wait.

I have NF 1 and have had no problem what's so over getting mortgages or insurance for anything? It must vary in different countries....

But did you declare it or specify it in the forms?
I am in Australia. I was diagnosed this year, so everything still fresh and sometimes confusing.

Yes, I've always declared it. It's also never made it anymore expensive.
Though I don't have any major health issues with it, so that could be why?
I'm in England.
Hope your ok x

That's good to know. The geneticist really scared me. She saw my kids twice and when she was discussing the possibility to have their blood send to Alabama, she was really trying to discourage me.

I don't have any health issue. Diagnosed by pure accident. Had a neurofibroma removed (which at least 5 doctors had always said was only a cyst), mentioned it to a dermatologist during a skin cancer check who identified a dozen more on me I was unaware of, sent to a geneticist and specialised ophthalmologist, confirmed Lisch nodules, then ..... I have 4 markers.

My nearly four year old has NF1 and my 2 year old is suspected to have it. DS1 presented with 14 CAF spots (the biggest is about ten cm across, by 5cm) and freckling. It was noticed by chance really. I took DS2 to be weighed last December and while there DS1 stripped his top off and asked if he could have a go on the scales. While he was semi naked I asked her to have a look at his CAF spots as I wasn't sure it was normal. She said it probably was and sent us on our way, only to phone us later to tell me to take him to the gp. I did and she referred him to the consultants. He had an ophthalmology appointment which was really in depth and thankfully confirmed that there are no issues at present, but he now needs to be seen yearly. The paediatrician referred us to the geneticists and because DS2 is showing signs, but neither me or DH are, they have referred us all for testing. She has formally diagnosed DS1 (he has a lot of the behavioural issues common with NF) and is fairly sure of DS2's diagnosis. She thinks that DH or I have segmental/mosaic NF1. We've also had appointments with the behavioural assessment team and physiotherapy as he has pain in his hips caused by hyper-mobile joints. He is probably the clumsiest child I have ever known and seems to have very little awareness of his surroundings in relation to his body. HE's also small for his age. Behaviourally he has several ADHD/ASD/SPD traits, but not enough for a diagnosis, not that we want one. The behavioural paed said that he's a typical NF child. DS2 however shows none of these traits and is developing typically, whereas DS1, although hitting milestones early, did so in a "different" way. Rolling for example, he log rolled, lifting his legs up and flopping over, rather than twisting to roll like most babies do. If I'm being honest, I had a feeling there was something amiss back then. He's always set my instincts off that something wasn't quite "right". Health wise, he's fine, he picks illnesses up easily, but nothing overly worrying.