Café Au lait Spots (Neurofibromatosis)

[Nonna2Dreja]

I'm curious to know if anyone here has ever dealt with or perhaps is currently dealing with a child with "Café Au lait Spots" which can be a sign of Neurofibromatosis? Since my Granddaughter, Aja (pronounced Asia) was born she has had these coffee/milk colored spots on various parts of her body and over the last 15 months we have discovered more....Today I took Aja to her 15 month Check up for her Mommy and I mentioned these spots again....Finally they are willing to send her for blood work to test for NF1 and they are also setting up an appointment with an Eye Specialist to have her eyes checked....From what I have read online, this is a good way to rule Neurofibromatosis out....If anyone has any information we would definitely appreciate it....:)

[LenaGardner]

My nephew, Julian, who is 8 months, was diagnosed with NF1 at age 4 months. His father has it so we weren't too surprised, but I'll direct my sister to this thread to share some insights.

[Nonna2Dreja]

Lena, Thank you so much....I truly appreciate it....:)

[LenaGardner]

I found Tabby's layout she did about finding out about Julian's NF1

https://www.sweetshoppedesigns.com/inspiration/showphoto.php?photo=33447&ppuser=49

I know his father has had to deal with some of the complications of NF..the scoliosis, the fibromas, and some difficulties with speech, but he is overall a healthy and happy person.

I think Tab said that the doctor was looking for 4 or more cafe au lait spots to show up before 6 months ( I think? ) and they ended up loosely diagnosing him earlier than that because they found a few that developed those first few months, AND he was genetically predisposed to it. They found one that actually covered his whole tummy and no one noticed for a while because it was so light and so large. He is now seeing a geneticist.

[Nonna2Dreja]

When Aja's Pediatrician first noticed the "spots" on her, she told us what they were, but didn't seemed all that concerned....Naturally, when we got her home from the appointment, we stripped her down and started counting and documenting them....The Pediatrician said she needed to have atleast 6 "spots"....Well, she has alot more than 6 now, as well as a couple of "ash spots"....Aja's "Father" is not active in her life and so we do not know if he, himself has
Neurofibromatosis....That is if he even knows if he has it....

Thank you for sharing the link to your sister's layout, journaling her fear of her son having NF....He is a beautiful baby and she did a beautiful job on her layout....

[LenaGardner]

Okay, that helps my memory some. I think it was 6, but they went ahead and made the referral when he had only 4 spots, since it was certain that his father had it. In my limited knowledge of NF1, it just means he'll have to receive extra special attention...a few extra specialist appointments every year, until around puberty when the symptoms become more pronounced. I know Tab takes her eldest to a geneticist as well for an unrelated condition so this isn't uncharted water for her but scary nonetheless. I hope Aja doesn't have it but if she does, there is great medical care for NF1. I've put a call into Tabby but she gets up early to put the older children on the bus so I'm pretty sure she's out for the count already tongiht. I left her a voicemail though to see the thread :)

[Angie4b1g]

My dd is 9 and she has GOBS of those spots. I'd asked about them every few visits her whole life and they always put me off. Finally this summer our new pediatrician sent us for further testing.

She saw a neurologist who said she either has it or she doesn't, and if she does, there's not much they'd do other than watch her, so there was no sense in doing the genetic testing because then she'd end up "labeled" and maybe have trouble getting insurance down the line. He sent us to see the opthamologist (the one we see is the head of pediatric opthamology at Children's Hospital - love him) and told us they'd want to see her every 6 months to watch for tumors on her eyes.

He said she had NO tumors and that 98% of kids with NF have them. So while he wasn't going to say she for sure does NOT have NF, he said she probably doesn't, and he'll see us again in 2 years.

So, we didn't really get too many answers. And I probably haven't given you any either.

[Kim]

I had quite a few Cafe Au Lait birthmarks. I think 6 was the most I had at one time just before I hit puberty. Eventually most of them faded and now I think I only have 2 visible (and even then they are faint) and I dont have any issues (well, I do, but thats a whole nother story LOL:D ). I dont think my parents even knew that they should be concerned.

Anyways. I just wanted to post to say that I hope the testing comes back good news.

[Tracie Stroud]

My dd has 1, but no more have ever developed, so they've never been concerned with it. I hope you get some good news!

[Priscilla]

pmed ya :D

I have this and didn't know until I was in my 20s

[Nonna2Dreja]

Lena. Thanks so much for trying to contact your sister for me....I know what you mean about her being "out for the count" due to having to get up early....During the week, Monday through Thursday nights I am in bed at 8 pm EST because I get up for work at 3:40 am....

Angie, thank you so much for sharing with me....It does help knowing that there are other's who have these same "spots" and that in some cases, with some extra visual monitoring and perhaps a couple of eye exams a year, they sometimes are nothing more than "spots"....

Kim, I have some other "issues to"....LOL Thanks so much for your reply and for the well wish of good test results for my Granddaughter....I'm sure things will turn out fine for her, but we just want to rule it out....

Tracie, I appreciate your well wish of good news....Thank you....I am so happy that I decided to post this topic as it is nice to know that there are other's who either have these "spots" and/or NF1....

Priscilla, Thanks for the PM....I PM'd you back....LOL I had never heard of this until the Pediatrician told us what the "spots" were called....

I truly do appreciate all of your replies and I want to apologize for replying in this fashion (to everyone in one post) but I felt it was easier on my little pea pickin' brain....LOL:o

[Angie4b1g]

That was mostly why I responded. I know when we were in the middle of this freakout, everything I found on the internet was doom and gloom and I was totally spazzing.

[Nonna2Dreja]

That was mostly why I responded. I know when we were in the middle of this freakout, everything I found on the internet was doom and gloom and I was totally spazzing.

Yes, I agree with you....Sometimes looking things up online tend to make me freak out unnecessarily....LOL

[gypsystar]

Hi, I just got Lena's message and I sent you a pm :).

[Nonna2Dreja]

Hi, I just got Lena's message and I sent you a pm :).

Good Morning Tabatha, Thanks so much for your PM....I PM'd you back....:)