Neurofibromatosis Awareness

Last Updated: 03/28/17

Charities to Donate to

CTF, the Children's Tumor Foundation, helps to organize events for funraising for NF and donates a large amount of money regularly to NF trials. For a complete listing of Charaties to potentially donate or raise funds for, visit: HERE

Reminder: May is NF Awareness month.

NF Facts

  1. Neurofibromatosis (NF); NF1, NF2 and Schwannomatosis, are genetically-determined disorders which affects more than 100,000 Americans. There is no cure but with research a cure may someday be found.

  2. Neurofibromatosis has been classified into three distinct types; NF1, NF2 and Schwannomatosis. They are caused by different genes located on different chromosomes or the result of damage to different proteins.

  3. Neurofibromatosis awareness is needed. Many people do not know they have a form of NF till immediate surgery or radiation therapy is required. Early diagnosis can help allow for early intervention to slow down tumor development.

  4. If you have Neurofibromatosis; you are born with it, you don't get it later in life, people develop issues at different points in life later in life for a variety of reasons.

  5. Despite research, the 3 forms of Neurofibromatosis are commonly confused by doctors in the medical community. Diagnosis with genetic testing is the best indicator to clarify which one a person has, not a Dermatologist examination. Without proper differentiation of NF type, Chemotherapy - Molecular Target Tumor Treatments, will be unlikely to help manage tumors.

  6. Neurofibromatosis is more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.

  7. Neurofibromatosis is a genetic disease. NF1, NF2 and Schwannomatosis are Autosomal Dominant. Autosomal Dominance, means each a child a parent with NF, either male or female, a chance of 50percent to be also born with the type of NF their parent has.

  8. The type of NF2 inherited by a child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family.

  9. Neurofibromatosis; NF1, NF2 and Schwannomatosis are equal opportunity disorders. It affects both sexes equally and has no particular racial, geographic or ethnic distribution. NF can appear in any family.

  10. Neurofibromatosis tumors are generally Benign (non-Cancerous). While these tumors might put pressure on Brain Matter and Cranial Nerves they might be located near or are growing on, if a tumor continues to grow the tumor can becomes Life Threatening.

  11. Neurofibromatosis tumor management options include; watch and wait, surgery to remove one tumor at a time, or radiation. For NF1 and NF2, Chemotherapies type treatment known as Molecular Target Tumor Treatments, are in Clinical Trials. None have been proven to be 100% effective to date.

  12. Many people with Neurofibromatosis; NF1 and NF2, in addition to tumors also have Ocular Abnormalities, causing Blurred or Loss of Vision.

  13. Juvenile Cataracts, Cataracts in early childhood are common for people with NF2, generally PSC Cataracts. PSC Cataracts are somewhat more difficult to remove than Cortical Cataracts. Cortical Cataracts is the Cataract form seen most often by eye surgeons.

  14. While NF2 is a rare disease, research that resulted in ABI hearing implants, designed specifically for people with NF2 are being used for individuals with other hearing loss issues.

  15. 50% of people with NF2 do not just have Vestibular Schwannoma (VS), sometimes referred to as Acoustic Neuroma (AN), they also have other brain and spinal tumors. Issues would depend on exact tumor locations. Issues by Location:

  16. Manifestations and symptoms can differ greatly for different people with Neurofibromatosis. NF2 typically follow similar paths in affected family members. With NF1 and Schwannomatosis, issues can be different from family member to family member.

  17. Neurofibromatosis are a genetic diseases. This means that you cannot catch it from other people.

  18. NF2 is Hereditary in 50% of the cases. The other 50% are Spontaneous Mutations.

  19. Since Vestibular Schwannoma (VS) also known as Acoustic Neuromas (AN) tumors grow differently for NF2 patients, it is vital that the surgeon has NF2 experience as opposed to regular VSs. NF2 hearing has been known to be preserved with treatments when the tumor is very small. This is more likely with NF2 since these tumors are found sooner than Spontaneous VS's as part of standard NF2 MRI follow up.

  20. Preserving Facial Nerve function during NF2 Vestibular Schwannoma (VS) treatment management, is common even with small to medium sized tumors.

  21. In NF2, the hallmark of the condition is the development of tumors that grow on the eighth cranial nerve (acoustic nerve) in both ears, commonly causing deafness and severe balance problems.

  22. NF2 tumors are primarily Central Nervous System (CNS) tumors; brain and spinal cord, but can also include Peripheral Nerve System (PNS) tumors; whole body some of which might be seen pushing up from under the skins surface.

  23. Due to potential brain surgery complications, most of people with NF2 need to make Health Care Proxy's and Medical Living Will decisions for themselves shortly after being considered adults.

  24. Facial Nerve damage from NF2 tumors, does not cause any form of mental impairment, but it can result in; eye, eating, talking, droopy face and nasal issues as a result of Facial Nerve damage.

  25. Schwannomatosis result in severely painful tumors that grow on the nerves in whole body. These tumors, tumor type known as Schwannoma are also a possible issue for people with NF2 depending on exact NF2 mutation.

  26. As of 2003, Schwannomatosis was proven to be molecularly and clinically distinct from NF2.

  27. In 1996, it was determined the numbers of individuals with NF2 was higher than previously believed due to Genetic Mosaicism. Individuals with Mosaic NF2 might only have, Unilateral Vestibular Schwannoma (VS on one side), or possibly no tumors, but can have children with all tumor types and issues. Genetic Mosaicism is when cells in an individual have a different genetic makeup. In Mosaic NF2 that means not every cell in an individual's body has NF2.

  28. In 2013, individuals showing signs of Schwannomatosis with no markers for the SMARCB1 protein were finally established to have an alteration of the LZTR1 protein.

  29. NF1 research may benefit an additional 100 million Americans (i.e. 65 million with cancer and 35 million with learning disabilities). Learning disabilities are not a trait found in people with NF2 or Schwannomatosis.

  30. Approximately 115 babies around the world are born with NF1 each day.

  31. NF1 is the most common neurological disorder caused by a single gene; it is said that NF1 occurs in about 1:3,000 births.

  32. NF2 is less common than NF1; it is said that NF2 occurs in about 1:25,000 - 1:33,000 births.

  33. While today there is no consensus, studies indicate that Schwannomatosis frequency of development; it is said that Schwannomatosis occurs in about 1:40,000 births.

  34. NF1 is frequently confused with "Elephant Man's Disease," although it was at one time believed to be, but they are completely different conditions. Scientists now believe that John Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.

  35. While most cases of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain and spinal tumors, loss of limbs, malignancies, socioeconomic burdens, and learning disabilities.

  36. Learning disabilities are five times more common in the NF1 population than in the general population.

  37. Women with Meningioma are at risk of increasing tumor growth during pregnancy because of blood flow changes for infant development. This occurance may include increased growth of Schwannoma or other tumor types.

  38. If even one tumor cell is left behind during surgery, a new tumor has the potential to grow.

  39. It is hard to have a good Quality of Life with a long term illness that has constant personal physical reminders to those who have them, be it from pain or sensory loss.
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