Join the Meeting Place for Moms!
Talk to other moms, share advice, and have fun!

(minimum 6 characters)

Make A Difference Make A Difference

May is national Nerofibromatosis month. pics added. Warning kind of graphic

Posted by on May. 4, 2012 at 1:49 PM
  • 16 Replies


What is Neurofibromatosis?

The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.  The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves.  These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis, a type that was once considered to be a variation of NF2.  NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old,  may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia.  NF2 is less common and is characterized by slow-growing tumors on the eighth cranial nerves. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for eighth nerve tumors, cataracts at an early age or changes in the retina that may affect vision, other nervous system tumors and similar signs and symptoms in a parent, sibling, or child. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve.  The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue.  Some people may develop numbness, tingling, or weakness in the fingers and toes.

Is there any treatment?

Surgery is often recommended to remove the tumors.  Some NF1 tumors may become cancerous, and treatment may include surgery, radiation, or chemotherapy. Surgery, radiation, and chemotherapy also may be used to control or reduce the size of optic nerve tumors when vision is threatened.  Some bone malformations can be corrected surgically

For NF2, improved diagnostic technologies, such as MRI, can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Surgery also can correct cataracts and retinal abnormalities.  

There is no currently accepted medical treatment or drug for schwanomatosis, but surgical management is often effective.  Pain usually subsides when tumors are removed completely.  Genetic testing is available for families with documented cases of NF1 and NF2 but such testing for schwannomatosis currently does not exist.  


What is the prognosis?

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals.  In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening.  Most individuals with schwannomatosis have significant pain.  In some extreme cases the pain will be severe and disabling.


What research is being done?

Several years ago, research teams located the exact position of the NF1 gene on chromosome 17. The product of the NF1 gene is a large and complex protein called neurofibromin, which is primarily active in nervous cells as a regulator of cell division.  Intensive efforts have let to the identification of the NF2 gene on chromosome 22.  The NF2 gene product is a tumor-suppressor protein called merlin.  Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth.  Other research is aimed at understanding how the genetic mutations that cause the benign tumors of NF1 also cause nerve cells and nerve networks to form abnormally during fetal development, which later result in the learning disabilities and cognitive deficits of children with the disorder. Additional research is aimed at understanding the natural history of tumors in NF2 and determining possible factors that may regular their growth patterns.  The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.


NIH Patient Recruitment for Neurofibromatosis Clinical Trials

Organizations

Neurofibromatosis, Inc. (NF Inc.)
P.O. Box 66884
Chicago, IL   60666
nfinfo@nfinc.org
http://www.nfinc.org External link
Tel: 630-627-1115 800-942-6825

Acoustic Neuroma Association
600 Peachtree Parkway
Suite 108
Cumming, GA   30041
info@anausa.org
http://www.anausa.org External link
Tel: 770-205-8211 877-200-8211
Fax: 770-205-0239/877-202-0239

Children's Tumor Foundation
95 Pine Street
16th Floor
New York, NY   10005
info@ctf.org
http://www.ctf.org External link
Tel: 800-323-7938 212-344-6633
Fax: 212-747-0004

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY   10605
askus@marchofdimes.com
http://www.marchofdimes.com External link
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD   20892-8322
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)

 

Related NINDS Publications and Information

Publicaciones en EspaƱol



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated January 13, 2012

http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm


The many faces of NF

The month of May is the Nerofibromatosis awarness month. 

One of the major signs are cafe au lait spots (flat brown spots on the skin).

Please research this disorder! 

I have this disorder myself.

CLICK PHOTO FOR MORE INFO!

by on May. 4, 2012 at 1:49 PM
Add your quick reply below:
You must be a member to reply to this post.
Replies (1-10):
Audreesmommy757
by on May. 4, 2012 at 1:51 PM

thanks for shareing

momofsixangels
by on May. 4, 2012 at 8:11 PM

Thanks for the info.I had never heard of this before

gypsy_rose
by on May. 4, 2012 at 8:18 PM

NP. I myself Have NF1.

LindaClement
by on May. 4, 2012 at 8:56 PM

Ew... that sounds horrible!! I've never heard of it before... so the campaign is working!

gypsy_rose
by on May. 4, 2012 at 8:58 PM

Yes it is horrible. I only got diagnosed in January. I wish I had known before. I passed it on to my youngest son. My DH has to be VERY careful with me because if he touches my rib area or certain parts of my body with to much pressure I will lose my breath from the pain. I am lucky I don't looks like some of the people with it. 

Quoting LindaClement:

Ew... that sounds horrible!! I've never heard of it before... so the campaign is working!


The month of May is the Nerofibromatosis awarness month. 

One of the major signs are cafe au lait spots (flat brown spots on the skin).

Please research this disorder! 

I have this disorder myself.

CLICK PHOTO FOR MORE INFO!

LindaClement
by on May. 4, 2012 at 9:00 PM

Did/do your parents have it?

Quoting gypsy_rose:

Yes it is horrible. I only got diagnosed in January. I wish I had known before. I passed it on to my youngest son. My DH has to be VERY careful with me because if he touches my rib area or certain parts of my body with to much pressure I will lose my breath from the pain. I am lucky I don't looks like some of the people with it. 

Quoting LindaClement:

Ew... that sounds horrible!! I've never heard of it before... so the campaign is working!



gypsy_rose
by on May. 4, 2012 at 9:05 PM

Not that we know of. Mine is mildish. If I have more than the 2 that are above the skin they would all be under the skin. I do have MANY cafe au lait spots. Arlo my 17 month old has many as well. I feel horible for passing it on. 

Quoting LindaClement:

Did/do your parents have it?

Quoting gypsy_rose:

Yes it is horrible. I only got diagnosed in January. I wish I had known before. I passed it on to my youngest son. My DH has to be VERY careful with me because if he touches my rib area or certain parts of my body with to much pressure I will lose my breath from the pain. I am lucky I don't looks like some of the people with it. 

Quoting LindaClement:

Ew... that sounds horrible!! I've never heard of it before... so the campaign is working!




The month of May is the Nerofibromatosis awarness month. 

One of the major signs are cafe au lait spots (flat brown spots on the skin).

Please research this disorder! 

I have this disorder myself.

CLICK PHOTO FOR MORE INFO!

StephanAndCoral
by on May. 5, 2012 at 5:46 PM

Thank you for Sharing I have never heard of this before! 

StephanAndCoral
by on May. 5, 2012 at 5:50 PM

you shouldn't feel bad about it momma you did not do it on purpose. you did not know about it so there was no way to keep him from getting it but now that you do know about it there is something you can do to help him with it as well as keeping up there with the raising awareness. Also with posting this you may have saved someones life. hugs momma! 

Quoting gypsy_rose:

Not that we know of. Mine is mildish. If I have more than the 2 that are above the skin they would all be under the skin. I do have MANY cafe au lait spots. Arlo my 17 month old has many as well. I feel horible for passing it on. 

Quoting LindaClement:

Did/do your parents have it?

Quoting gypsy_rose:

Yes it is horrible. I only got diagnosed in January. I wish I had known before. I passed it on to my youngest son. My DH has to be VERY careful with me because if he touches my rib area or certain parts of my body with to much pressure I will lose my breath from the pain. I am lucky I don't looks like some of the people with it. 

Quoting LindaClement:

Ew... that sounds horrible!! I've never heard of it before... so the campaign is working!





janessa27
by on May. 5, 2012 at 9:58 PM
Thanks for sharing....I have never heard of this before either
Posted on CafeMom Mobile
Add your quick reply below:
You must be a member to reply to this post.
Join the Meeting Place for Moms!
Talk to other moms, share advice, and have fun!

(minimum 6 characters)