Neurofibromatosis

I need to talk to someone who knows a bit about this. My daughter is 3 y/o and she has a hearing loss, seizures, coloboma of her retina...the list goes on and on. Anyway, she has been being followed by genetics for most of her life. I took her swimming a lot this past month and a half and she began to get freckles on her little cheeks.

But I haven't taken her swimming in about 2 weeks now and she has some unusual spots that look like an oversized freckle. She only has two spots that are large. But the other thing that gets me is she has freckles in the crease of her elbow. I was looking it up and I keep getting this disorder.

I've always worried about the way my daughter's backbone sticks out. It leaves marks when she lays on it. Like spots where the bone was pressed again the soft cushion of my couch. And tonight I noticed those spots are red and peeling a little. Should I be worried? Would you take your child to the doctor and mention all of this?

I have neurofibromatosis type 1. I was diagnosed at 3 months.

I have a lot of birthmark colored spots all over my whole body and freckles in the armpits and around the groing.you can have problems with your eyes and ears,mole looking "tumors",tumors on the nerves some you can feel by touching the skin others are deeper,bowing of the shin bones or eye bone.
I have a lot of these symptoms,my leg was amputated when I was 7.



Does she have a lot of birthmarks? Freckles on the cheeks are not a characteristic of NF alone.
Does she have any bone problems?

NF is usually diagnosed before the age of 12 months bc of the characteristics it has

<blockquote><b>Quoting PeanutButter[WAL]:</b>" I have neurofibromatosis type 1. I was diagnosed at 3 months. I have a lot of birthmark colored spots ... [snip!] ... alone. Does she have any bone problems? NF is usually diagnosed before the age of 12 months bc of the characteristics it has"</blockquote>




I know the freckles on her cheek isn't abnormal. I was saying the two large spots are and she does have none abnormalities. She has a short from front to back and wide from side to side head. She has pectus excavatum and her backbone sticks out farther than it should on her lower back. I haven't felt any tumors and I can't tell about the bowing of the shins because she has always walked funny. I wrote it off to her hearing loss causing balance problems.

<blockquote><b>Quoting Mommy of 2 + 1 angel:</b>" <blockquote><b>Quoting PeanutButter[WAL]:</b>" I have neurofibromatosis type 1. I was ... [snip!] ... about the bowing of the shins because she has always walked funny. I wrote it off to her hearing loss causing balance problems."</blockquote>




That was supposed to say she has bone abnormalities lol

I would make an appointment with a neurologist and discuss everything with them.
They should be able to tell you if she has it or not.they won't have to take blood or anything they just look at her and examine her body and check off a list of questions connected to NF

And usually with the spots its 5 or more to be catagorized as NF.

Good luck,I hope you find out some answers soon

<blockquote><b>Quoting PeanutButter[WAL]:</b>" I would make an appointment with a neurologist and discuss everything with them. They should be able ... [snip!] ... to NF And usually with the spots its 5 or more to be catagorized as NF. Good luck,I hope you find out some answers soon"</blockquote>




Thank you. I am watching to see if anymore will come up in the next few days. I noticed the first one on her arm about 5 days ago and then the second one was there like 2 days later. I will talk to her neuro about it tho. Thanks so much!  

<blockquote><b>Quoting Mommy of 2 + 1 angel:</b>" <blockquote><b>Quoting PeanutButter[WAL]:</b>" I would make an appointment with a neurologist ... [snip!] ... about 5 days ago and then the second one was there like 2 days later. I will talk to her neuro about it tho. Thanks so much!  "</blockquote>




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