Neurofibromatosis - very worried

[taubel]

Hi - My son turned 3 in May and has had two definite cafe au lait spots since shortly after birth. These are fairly large (larger than a quarter) and noticeable. Our ped assured us that this was nothing to worry about yet and that we would just wait and see what happened.

By the time he was 1, I noticed two more, much smaller spots on his neck. They are smaller than a dime, but larger than the 5 mm measurement I am reading about everywhere.

Today I noticed another very small spot on his back. So this makes 5 spots. Sometimes I think I can see shadows of other spots, but they are too faint to be seen (my concern may be making me imagine these, of course).

My son does not appear to have any other health conditions. He does seem a bit hyperactive, but he has two older brothers who are active, and they all feed off each other.

He has not had any delayed development, but he did crawl and walk later than his brothers (he walked at 14 months).

Of course I've been reading stuff on the Internet that has me terrified - and stuff that is very reassuring.

What should I do? Our ped is very laid back, and I think he'll just tell us there's nothing that can be done. But should I be getting an eye exam or setting up an appointment with a neurologist?

I do not know of any family history of this disease. My oldest son has Aspergers and ADD. My husband does have some cafe au lait spots that are long and narrow on his back. He has also had "fatty tumors" (were they called lipomas?) removed from his back in the past.

Hopefully somebody will have some advice for us! I am getting very worried. Thanks!

[purplepaisleymama]

I am not an expert on NF, but with your husband having cal's and lipomas all he would need for a confirmation would be a family member diagnosed.....which would also make your son have two of the three requirements for dx. If your son doesn't seem to be having any real symptoms of the NF other than the cal's it is good, from my research NF is sometimes just a thing you have with no real issues ever. If you are really concerned you could have an appt with a clinic nearby or a consult with a geneticist. If you are aware of what to watch for you should be in a great position for your little guy.

Our kids all have cal's, as do I. Our youngest right now has growths that have not been diagnosed as lipoma's but could very well be.... we are in the watch and wait mode right now, though if we have any more concerns we will proceed with genetic testing. I know that it is really hard to watch your little one and n not know what is going on......sometimes it takes being a bit more firm with your ped if you are needing more support.

I hope you are able to relax soon, and that you get answers.....
hugs....
~laura

[nicoley73]

Here are the diagnostic criteria for NF1:

Two or more of the following:

* Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
* Two or more neurofibromas of any type or one or more plexiform neurofibroma
* Freckling in the axilla or groin
* Optic glioma (tumor of the optic pathway)
* Two or more Lisch nodules (benign iris hamartomas)
* A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
* A first-degree relative with NF1

So right now your son doesn't meet even one criteria since you are not sure your dh has NF. But in your shoes I would make an appt with a geneticist/neurologist and a pediatric opthalmologist just to check everything out. Apparently there is some research that anything more than 3 cals is indicative of something not quite right.

My daughter was given a probable NF diagnosis at 4 y/o. She currently has no issues. We see the neurologist and the eye doctor once a year for monitoring. I had many sleepless nights before I decided to stop worrying about what might happen and enjoy my healthy and happy child. But part of what made me able to stop worrying was knowing that I was monitoring her so that any problems could hopefully be caught early. I hope this helps.

[bcblondie]

I just wanted to say, that if he does have it, he'll be ok. My DH has NF. Hundreds of bumps all over his body. He's had some removed, as the the big ones are painfull when hit, but otherwise they don't bother him at all. He's fully functional in every other way. It hasn't affected his vision or anything.
He does also have teh learning disability that about half of those with NF have. But worked his hardest in school and graduated, and now is a wonderful provider for our family.

[taubel]

Thanks for the support, everyone! We made an appt with our ped, who will hopefully point us in the right direction. I will post an update at some point!

[StephandOwen]

Originally Posted by nicoley73

I had many sleepless nights before I decided to stop worrying about what might happen and enjoy my healthy and happy child. But part of what made me able to stop worrying was knowing that I was monitoring her so that any problems could hopefully be caught early. I hope this helps.

DS "might" have NF. He has lots of cal spots, but no other signs. He sees the eye doctor yearly- a pediatric specialist who knows what to look for as far as the NF possibility and also the possibility of retinitis pigmentosa (which his bio-dad and all that family has so he has to be watched closely for as well). He saw the neurologist for awhile but we stopped that (didn't see a point in continuing so left with a "if anything changes we'll be back"). He saw an orthopedic doctor who took x-rays of his legs and spine and declared him perfect so we haven't been back. He's had an MRI (for unrelated things) that showed no issues. I spent a long time worrying myself sick over the possibility of NF. Now? Eh. If he has it then there's nothing I can do about it so what's the point in worrying about it now? We started noticing the spots at age 1 (and that's when he first started going to the neurologist). He'll be 7 soon and I check him over regularly for any changes but I don't stress about it anymore

[taubel]

Originally Posted by StephandOwen

I spent a long time worrying myself sick over the possibility of NF. Now? Eh. If he has it then there's nothing I can do about it so what's the point in worrying about it now? We started noticing the spots at age 1 (and that's when he first started going to the neurologist). He'll be 7 soon and I check him over regularly for any changes but I don't stress about it anymore

I hope this is the way it goes for us, as well! Thanks for sharing this story! Can I ask how many spots you've found on your son, though?

[kalynnsmom]

Originally Posted by bcblondie

I just wanted to say, that if he does have it, he'll be ok. My DH has NF. Hundreds of bumps all over his body. He's had some removed, as the the big ones are painfull when hit, but otherwise they don't bother him at all. He's fully functional in every other way. It hasn't affected his vision or anything.
He does also have teh learning disability that about half of those with NF have. But worked his hardest in school and graduated, and now is a wonderful provider for our family.

This is exactly my DH to a "T". He lives a happy, normal life. He's a special ed teacher and does very well.

2 of my 3 kids have NF1 as well. My DD has ADHD, and some other issues but the school is working with her and she's doing very well. My son does have some developmental delalys, but both kids lead fairly normal and happy lives.

I'd even venture to say that the majority have people with NF1 lead happy normal lives. They might have a few challenges but it's not something that can't be overcome..

[bcblondie]

Yeah I agree that there are some small challenges. DH has never really been able to play most of the popular sports because if he gets hit on one of his bumps it can really hurt. Especially hockey pucks (I'm canadian. lol)
But yeah. Of course, there's more to life than sports... and there are still some sports he can play.

[Chantaljoy]

My husband and son both have NF. My dh has some large cal spots on his back and lots of smallish bumps on his body. He had one on his temple removed. He also has some learning disabilities. My son has about 5 or 6 cal spots and that's his only symptom right now. I guess a lot of times the bumps show up around the time puberty hits. My son has gross motor and speech delays but it's unclear if it is related to the NF. We see a pediatric geneticist for ds. NF is mild for some people and more severe for others. I hope you can get the answers and support you need!

[bcblondie]

There are 2 types of NF. Type 1 is about 10 times more common and much less serious. I would worry more if he had type 2.