Thursday, April 23, 2009

What the heck is Segmental Neurofibromatosis or Segmental NF-1

If you know please tell me! Seriously, my daughter was just diagnosed with it a couple months ago. It is a rare form of NF-1. The only diagnostic criteria she meets is the humongous cafe au lait spot that covers her left chest goes up the underside of her left arm up to her elbow and onto the left side of her back. Inside the borders, mainly in her armpit are tons of light freckles. She also has a cafe au lait spot that she was born with on the inside of her calf on her right leg. The markings on her left side magically appeared out of nowhere about 2 years ago. The spot on her leg also filled with freckles and moles. The markings on her left side were preceded by missing pigment or white spots, on her left shoulder and neck. If I hadn't noticed the missing pigment and followed their progress, I probably never would have noticed the cafe au lait and freckling.

Info on NF-1 and NF-2 can be found at She didn't inherit it (only 50% is inherited) from our family. She probably had a spontaneous genetic mutation while in the womb. It is the mildest form, so the doctors tell me. There really isn't much out there on this. I even went to The Rare Genetic Disorder website on the recommendation of the genetic counselor and there was no info. Boy, it must be rare!

The geneticist tried to give me reassuring percentage statistics that my daughter would PROBABLY never have any of the negative consequences of having this disorder. However, ADD and ADHD can occur in individuals with NF-1 and my daughter was just diagnosed with that (not that we hadn't joked about her having it for years so it was no surprise). She also complains of headaches and pain on her left side as well as other body pain, which can occur with this disorder. She also has a lump on the left side of her back which is probably muscle overgrowth. The geneticist also thinks that her left side in general is bigger and needs to be monitored.

Just like Autism no one can tell me how things are going to play out with this disorder. In some ways this gives you hope. If anyone can give me any info or knows anyone with it, please contact me.


Tripletmom said...

When I saw your blog for the first time and I looked that up and found that I have had one of those spots on my knee since I was a kid and have recently gotten another one directly over my liver. That one appeared out of nowhere and my husband scared the heck out of me a few weeks ago when he just about yelled "What the HE** is THAT???" so I know it is not just me not noticing it before lol. I also recently have developed a ton of freckles all over. I don't go in the sun because I'm allergic to it, so it isn't because of sun exposure!

I went looking for info on SNF-1 after reading your blog and really there is not much info. I am going to bring it up with the docs next time I go in, or at least bring up "what the he** is this spot?".

I really don't know what to tell you about finding more information. Have you tried searching Yahoo groups for a support group?

I sure hope this continues as a mild version of the disorder for your daughter. Having autism in the family, it would be no surprise that she has ADHD with or without SNF-1.

Has she had MRIs or other testing to check for tumors?

Tripletmom said...

That is a list of groups when I searched for NF-1

These came up when I searched for Neurofibromatosis:

Maybe they can help you find some answers

Betsy said...

I've never heard of this! Very interesting. I hope it never becomes a serious problem for her.
As if you didn't have enough to worry about, huh!

Casdok said...

Yes i hope you can find some answers. And i hope there is some relief from the pain. Hugs

Queenbuv3 said...

Tripletmom, Betsy, Casdok,
We all have quite the interesting rows to ho (spelling?) don't we. God must think we are all pretty strong to give us so many challenges. God bless and thanks for supporting me and my blog, I love reading all of yours. You all are so nice and welcoming. No wonder I love blogging here so much!!

Tripletmom said...

I always say He trusts me too much!

Joe Gunn said...

There is a messageboard on the CTF website where several doctors post. Hopefully they can give you more info there. NF can be complex so it is good to be your own advocate and do your own research, but also keep in mind not every possible complication of NF will affect your daughter.

What large cities are you near? I may be able to point you to a clinic that deals specifically with NF where you can get better answers.

(I run endurance races with the NF Endurance Team and we raise a lot of the money CTF uses to fund research for a cure. If you have any more questions just shoot then my way and I'll try to find more info for you.)

Queenbuv3 said...

Joe Gunn, Thanks for stopping by! Thank you for the info and good luck with your running! God bless!

Queenbuv3 said...

Tripletmom, She is on the wait list to see a Neurologist and they will be ordering the MRI for her back. She also is going to go see an Opthamologist to look for lisch nodules and tumors.