Neurofibromatoma

Name of Disorder: Neurofibromatoma

- This disorder received its name due to the  effects on the nerves within the body which causes  disfunctions within the structure of the nerves.

-  Neurofibromatoma has many different types of diseases within itself which are called NF 1 and NF 2!!!   This disorder  is also known as von Recklinghausen's Neurofibromatosis.

- Neurofibromatoma  as first discovered in the Middle East and has  also been recognized as a genetically inherited disease . 

 Definition of Disorder:

-  Neurofibromatoma are genetic disorders of the nervous system that primarily afffect the development and growth of nerve cell tissues.  The gene that it normally affects is  chromosome 17  within the body by suppressing  the gene that encodes a membrane in the cytoskeletal protein called merlin or schwannomin.  When it is suppressed,  this disorder can cause tumors to grow on nerves and produce other abnormalities and changes to skin pigmentation.  The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots and other neurological problems.

- Once  chromosome 17 has been damaged, this gene  becomes a mutant gene which is abnormal for the body.  The mutant gene  is than diagnosed as a  neurofibromatoses.                           

-In diagnosing this disorder, a physician will look at  the skin appearance, tumors, and or bone abnormalities that a patient  has. 

-This disorder has been broken down into two types: NF1 -which affects chromosome 17 which  most often affects the sibling and or child  and they may present with changes in skin appearance at birth , skeletal abnormalities and tumors on the optic nerve whereas NF2 -affects chromosome 22 and is less common and is characterized by bilateral tumors on the eigth cranial nerve and the hallmark sign is hearing loss, headache, balance issues, deafness and tinnitus. 

Inheritance of the Disorder:

- Neurofibromatosis is an autosomal dominant  disorder that is genetically inherited from one parent.  This disorder affects males and females equally and is dominant (only one copy  of the affected gene is needed to inherit the disorder).  

Treatment of the disorder:

- The treatment for this disorder is presently aimed at controlling the symptoms.  Early diagnoses  by improved diagnostic technologies such as MRI, can reveal tumors in the early stages which is often treated with surgery and if malignant it can be treated with radiation and or chemotherapy.  Some other options are partial removal of tumors and or watchful waiting to see if the tumor is progressing rapidly  which may  cause  iminent danger to the patient.  In addition, there is no way to cure this disease but there is a medicine  that was developed by scientisist called PEGINTRON which will help the patient by slowing down the effects of the disorder.

-There are many  medical specialists that are involved in the treatment of an individual affected by neurofibromatoma  such as surgeons, geneticists, nurses, and  of course doctors!  Each and everyone  plays a vital role in these patients care.  

- None of the patients require specialized equipment in their equipment.

 Incidence in Population:

- It occurs in every 30 out of 105 newborn babies.

- 1 out of 200 mentally challenged babies.

-The disorder appears more frequently in newborn babies then any other group and it occurs most in that area because it is genetically inherited at birth.

-Currently there is no way to prevent this disease from occuring but there is medicine and surgery that will suppress the effects of the symptoms dramatically.

Support/Research Organization

- The  families and caregivers of the individuals that are stricken by the disorder are affected by the demands of stress and care of the patient with the disorder because they have to devote their time and energy to that patient so they can monitor the activity of the disorder and also give medicine and make sure the patient is as comfortable as possible.

- Several years ago, researchers teamed up to locate the exact position of the NF1 gene that gets passed on to the offspring from the parents and it  was located. The product of the NF1 gene is a large and complex protein called neurofibromin.

- These services provide a monumental breakthru in the disorder because now scientists know where the NF1 and NF2 gene is located so now they can concentrate on how to recess the disorder from being passed on to the offspring.

- The National Institute of Health (NIH) have recently discovered that less than 10% of  Neurofibromatosis patients develop cancerous growth so therefore chemotherapy is useful in the treatment and also there is a medicine pegintron that was recently discovered and the Institute of Health that suppresses the effects of the disorder.

- The name of the extraordinary individuals that contributed to the research of Neurofibromatosis was Jim Rice, Francis Collins, Berwind P. Kaufman, Erwin Chargaff, Martha Chase and Cyril Charke but these are just the geneticists that teamed up together to research the disorder but there are hundreds of researchers that contributed to the disease.

- Only the State governments are involved with this disorder because it does not happen often enough to be recognized by the federal government.

- Currently there is no public funding being allocated toward the treatment and research of the disorder but the National Institute of Health provides their own funding to smaller hospitals to research the disorder.

- The foundations include the Childrens Tumor foundation, National Cancer Association.

Summary:

- It's very important for the general public to know about this disease especially expecting mothers.  Genetic testing is out there for parents who want to be proactive and have genetic testing done for this disorder as well as other disorders.    This information is also helpful when knowing what kinds of signs and symptoms to look for as well as the treatment that is out there for these individuals.  Even though this disorder is not as common as others the information is viable to know .  People that have been affected by this also needs to know that there is treatment out there as well as support groups that can help them through this process. 

-The steps that need to be taken to provide this education of the disorder is classes that teach you how to treat a person with neurofibromatoma and how to react to it and also how to  give the victim hope that it will be alright.

- The programs that should exist at SHS is a medical class that teaches you all about diseases , the cause , what it may affect, treatment for the disease and support groups to help you and other survivors through the ordeal.  Currently, I beleive we are not doing enough regarding this specific disease because it is not common and not Federally recognized.   

-The services that should be in place within the communtity to assist individuals with this disorder is a support group to help build back up their confidence levels , specialists who know specialize in the disorder and hope  and compassion to be displayed to the individuals that have been affected by this disease. 

-No there is no federal effort

-The individual citizens Responsibility toward the disorder should be showing compassion, educating themselves on the disease and  possibly provide hope for these individuals.  

Sources:

http://cat.inist.fr/?aModele=afficheN&cpsidt=15868602  http://www.ncbi.nlm.nih.gov/pubmed/15191829

http://www.venturacountystar.com/news/2008/jun/19/her-loss-her-gain/

http://pt.wkhealth.com/pt/re/cdrm/fulltext.00003050-200209000-00034.htm

http://en.allexperts.com/q/Acoustic-Neuroma-1006/2008/4/x-4.htm

http://2002annualreport.nichd.nih.gov/lcsn/unp.html

http://www.bic-foundation.org/Conditions.php

This highly valuable information on Neurofibromatoma has been given to you by Kierran Scott.