Neurofibromatosis Awareness

Last Updated: 06/9/17

Reminder: May is NF Awareness month.

NF1 Day is May 17th: Neurofibromatosis Type 1 (NF1) is a condition which develops because of damage to Chromosome 17.

NF2 Day is May 22nd: Neurofibromatosis Type 2 (NF2) is a condition which develops because of damage to Chromosome 22.

NF Facts

Some days more than one share was included to cover the multiple NF types better. The date is included on images and facts since what is known as statistics and research has changed understandings of facts over time.

Example: NF2 the hallmark tumors were initially called Acoustic Neuroma (AN) when Cranial Nerve 8 (CN8) was known as one nerve. When doctors learned CN8 branched into the Cochlea for hearing and Vestibule for balance, the tumor was officially renamed to Vestibular Schwannoma (VS). Not a change of facts but revision based on science developments.

Note: There is a considerable amount of misinformation about the three different NF type from what was understood before genetic testing. Always note dates on sources information about NF; NF1, NF2, SWN/NF3 is obtained from.

NF2 IS NF Types Genetics
NF Criteria, NF1, NF NF2 Criteria, NF2, NF NF Criteria, SWN, NF3
Sponteneous NF, Diagnosis, Mosaic NF Types Genetics
NF2 IS NF Types Genetics
NF2 IS Cafe, CALMs, Spots
Hearing Implants, ABI Malignancy, End of Life Decisions Vestibular System and Balance
Bone Health, Vitamin D Paraplegia, Tetraplegia, Quadriplegia, Vertebrae, Scoliosis, Kyphosis, Kyphoscoliosis, Spinal Cord Damage ADHD, Cognitive Issues, Childhood Learning Issues
NF1, Day Tinnitus, Hearing Loss Cae, Facial, Facial Nerve, Damage, Paralysis
Eyes nf1, nf2, nf3, swn, skin surface, tumors, Subcutaneous, Neurofibroma, Schwannoma, Cutaneous nf2, Meningioma
NF2 Day, ribbon, No Cure NF2 Day, ribbon NF2 Day, Canccer, Blind, deaf, mobility
Vertigo, Dizziness, and Lightheadedness Nerves, pain Stizures
NF2 gene NF2, head stitches, brain tumors, body tumors, MRI, Photos Doctor Visit
NF, isolation, deafness, skin tumors NF2, associated, Polyneuropathy, Peripheral Neuropathy, PNP Fatigue, Tumor Nerve Damage, Vitamin B12, B12 Deficiency, Immune System


Graphics Typed in Text

Some days more than one share was included to cover the multiple NF types better. The date is included on images and facts since what is known as statistics and research has changed understandings of facts over time.

Example: NF2 the hallmark tumors were initially called Acoustic Neuroma (AN) when Cranial Nerve 8 (CN8) was known as one nerve. When doctors learned CN8 branched into the Cochlea for hearing and Vestibule for balance, the tumor was officially renamed to Vestibular Schwannoma (VS). Not a change of facts but revision based on science developments.

Note: There is a considerable amount of misinformation about the three different NF type from what was understood before genetic testing. Always note dates on sources information about NF; NF1, NF2, SWN/NF3 is obtained from.

May - Neurofibromatosis Awareness Month

Date Shared: April 2017

Neurofibromatosis (NF) include three types; Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (SWN/NF3).



Awareness Day 1 - Genetics

Date Shared: May 1, 2017

Developments in Genetics has proven that there are not one, or two, but three forms of Neurofibromatosis (NF). Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (SWN / NF3). The Neurofibromatosis conditions; NF1, NF2, and SWN, affect people regardless of; gender, race, and country.

1987: Mapping for genes for NF separated people with NF into two (2) separate diseases while identified the location of NF1 on Chromosome 17 and NF2 on Chromosome 22.[1]

2003: Schwannomatosis is molecularly and clinically distinct from NF2.[2]

2014: Genetic testing for accurate Schwannomatosis diagnosis was finally available. Some diagnosed as NF1 or NF2 were finally able to be properly diagnosed with Schwannomatosis.[3]

Sources
  1. Evans, D. G., et al. "A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity." Journal of medical genetics 29.12 (1992): 841-846. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016198/
  2. Congressionally Directed Medical Research Programs. NF2 Storyboard. (2010) http://cdmrp.army.mil
  3. Piotrowski, A., Xie, J., Liu, Y. F., Poplawski, A. B., Gomes, A. R., Madanecki, P., ... & Messiaen, L. M. (2013). Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nature genetics. http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2855.html


Awareness Day 1 - Neurofibromatosis (NF)

Date Shared: May 1, 2017

Neurofibromatosis (NF) include three types; Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (SWN/NF3). NF are genetic tumor predisposition, but issues an individual with NF may face are not all the result of tumors. Which issues an individual may have, would depend on their NF type.

Tests like MRI's, eye exams, blood tests, or other tests that may be necessary at different points in life, early diagnosis is important.

NF type and exact form would also determine region or regions of the body tumors may develop.



Awareness Day 1 - Neurofibromatosis Type 2 (NF2)

Date Shared: May 1, 2017

Graphic Overview of Neurofibromatosis Type 2 (NF2)

Neurofibromatosis Type 2, NF2, MRI, Spine, Brain, genetics, tumor growth, balance, hands, butterfly

Awareness Day 2 - Neurofibromatosis Type 1 (NF1) Criteria

Date Shared: May 2, 2017

The NIH diagnostic criteria for NF1 in an individual who has two or more of the following features on source...



Awareness Day 2 - Schwannomatosis (SWN/NF3) Criteria

Date Shared: May 2, 2017

The diagnostic criteria for a person to be diagnosed with Schwannomatosis (SWN) follow a strict guideline established by the NIH. A diagnosis for SWN may if a person meets one of the conditions identified below. A diagnosis for SWN requires conditions identified in source.



Awareness Day 2 - Neurofibromatosis Type 2 (NF2) Criteria

Date Shared: May 2, 2017
Primary Finding Added Features needed for Diagnosis
Bilateral Vestibular Schwannoma
None
First-degree relative with NF2


Unilateral Vestibular Schwannoma, or
Any two (2) other NF2-Associated lesions:
Meningioma, Schwannoma, Glioma, or Cataracts
Unilateral Vestibular Schwannoma


Any two (2) other NF2-Associated lesions:
Meningioma, Schwannoma, Glioma, Neurofibroma, or Cataract
Multiple Meningiomas


Unilateral Vestibular Schwannoma, or
Any two (2) other NF2-Associated lesions:
Schwannoma, Glioma, Neurofibroma, or Cataracts


Awareness Day 2 - Genetics - Neurofibromatosis Autosomal Dominance

Date Shared: May 2, 2017

Neurofibromatosis (NF) are genetic conditions of Autosomal Dominant inheritance; Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (SWN / NF3).

Neurofibromatosis Type 2, NF2, Neurofibromatosis, NF1, SWN, Schwannomatosis, 
			Autosomal Dominance
  • NF1: If a person male or female has NF1, there is a fifty-percent (50%) chance children male or female are at risk of NF1. If they do not, their children will not be at risk.
  • NF2: If a person male or female has NF2, there is a fifty-percent (50%) chance children male or female are at risk of NF2. If they do not, their children will not be at risk.
  • SWN: If a person male or female has SWN, there is a fifty-percent (50%) chance children male or female are at risk of SWN. If they do not, their children will not be at risk.


Awareness Day 3 - Neurofibromatosis - Spontaneous (Mosaic) and Diagnosis

Date Shared: May 3, 2017

Neurofibromatosis (NF); Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (SWN / NF3) are Autosomal Dominant genetic conditions. However; NF can develop as a result of Spontaneous mutations and may be Mosaic, where not all cells in their body include damaged NF that can result in tumors or other issues.

Many Spontaneous NF individuals receive diagnosed after they have children. A first-generation individual who may have Mosaic development might have fewer issues and tumors than their children if the NF mutation occurred early in fetal development.

Medical Education about NF needed: It takes more than one doctor type for confirmed diagnosis of NF. It will help if the following doctor types know signs their patients may have NF, to help redirect individuals to other doctors for diagnosis; Pediatricians, Primary Care Doctors, Dermatologists, Ophthalmologist, Otolaryngologist/Ear Nose Throat (ENT), Neurologist. Learn more about doctor types you may need to see for NF2 at: https://www.nf2is.org/specialists.php



Awareness Day 4 - Tumors and Nerve Damage

Date Shared: May 4, 2017

Neurofibromatosis Tumors of Neurofibroma and Schwannoma are nerve damaging masses. These tumors can result in; muscle, sensory, or organ issues depending on the nerve and the point of the nerve the mass grows.

Possible Tumor Growth Locations:
  • Neurofibromatosis Type 1 (NF1)
    • Primary Location - Skin Surface
    • Common location - Internal Tumors
    • Possible - Brain
    • Family - Can be different from family member to family member
  • Neurofibromatosis Type 2 (NF2)
    • Primary Location - Vestibular, Cochlear, and Facial Nerves
    • Common location - Cranial Nerves and Spinal Cord
    • Possible - Skin and Internal
    • Family - Typically have similar occurrence
    • For individuals with NF2, "Vestibular Schwannomas (VS) are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally (left and right)." [Ardern-Holmes, 2017] The location of these tumors is a cranial nerve in the brain which controls hearing and balance but may also include the face.
    • Schwannomatosis (SWN/NF3)
      • Primary Location - None
      • Family - Unknown Similarities

    Source:

    Ardern-Holmes, Simone, Gemma Fisher, and Kathryn North. "Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group." Journal of Child Neurology 32.1 (2017): 9-22.



    Awareness Day 5 - Tumor Treatments

    Date Shared: May 5, 2017

    An individual with Neurofibromatosis (NF); NF1, NF2, and SWN, may grow one or possibly hundreds of tumors. It is fortunate each growth does not require treatment since there is no treatment available to permanently put an end to all tumors of any type that form in individuals with NF; Neurofibroma, Schwannoma, or Meningioma.

    Tumor Treatment Options

    Surgery (Excision / Resection), to remove or all or part of a tumor, or 2) Radiation Therapy (Radiosurgery); Gamma Knife, CyberKnife, and Proton Therapy treatments. 3) Drug-Based Treatments for all NF tumor types remain in trials. Options in trials are Target Tumor Treatments.

    Information Known about Trials to Date:
    • none has helped all trial participants, only a percentage of people
    • none has helped all of even the same type of tumor, in an individual
    • shrink tumors more than fifteen percent (15%) and not necessarily all tumors in the same individual
    • effective as long as a person continues to take treatment regularly
    • many stopped trials due to treatment side effects
    • most drugs in trials were designed to control and end other tumor conditions in six (6) months, not for years
    DRUG REASERACH IS NEEDED!
    https://clinicaltrials.gov/
    https://www.nf2is.org/clinical_trials.php

    Awareness Day 6 - MRI's and Growth Risks

    Date Shared: May 6, 2017

    A tumor or tumors for individuals with NF may have no growth for several years and may remain dormant after initial growth. However, "Stable - No Growth" for a year or years does not mean a tumor is dormant, they may start to grow again years later. It is also possible while some tumors that appear stable they are slow growing, which is why MRI reviews should include a review of scans from years prior as a comparison. [Asthagiri, 2017]

    Concern:
    • A person with NF who has had stability might feel it is safe to go several additional months or years without newer scans.
    • Doctors who have not seen patients with NF over long periods of time may suggest longer delays between MRI's if a comparison of older MRI's is not available.

    Any tumor can have a change by a large percentage in a short period; this could result in not enough time to treat a tumor mass, which could have potentially dangerous or even deadly consequences. What happens when more than one internal tumor need treatment in a different part of the body at the same time that may damage; organs, spinal cord, brain, or limbs?

    MRI scan frequency varies between individuals and is different for NF1, NF2, and SWN/NF3.

    For example:

    A person with NF2 typically requires MRI's more frequently of the brain than they would of the spinal cord. How frequent an MRI is necessary also depends on additional variables; recent surgery, radiation treatments, or general health.

    More on Sources and Additional Information at:

    NF2 Information and Services. "NF2 Tumor Growth" (2017) https://www.nf2is.org/increased_tumor_growth.php



    Awareness Day 7 - Kidney Issues

    Date Shared: May 7, 2017

    Individuals with Neurofibromatosis (NF); NF1, NF2, and SWN, are a high risk of Kidney Issues, not because of NF itself but as a result of methods used to monitor or manage NF.

    1. Tumor Drug-Therapies (Clinical Trials)
    2. Individuals on any drug-based tumor treatment in a clinical trial need blood and urine test monthly to monitor kidney health.

    3. Ibuprofen: Nerve Tumors and Peripheral Neuropathy
    4. Because of Nerve Tumors and Peripheral Neuropathy, many with NF face pain constantly.

      All who develop NF3 may face debilitating pain once tumors start to grow at +30+. Many with NF2 from spinal cord tumors, or from peripheral neuropathy. Possible issue with individuals with NF1 nerve tumors as well.

    5. MRI Contrast
    6. MRI contrast agent of Gadolinium over the course of many injections Gadolinium can result in kidney issues. Gadolinium injection allows for clear imaging of tumors in scans.

      Individuals with NF2 often require three (3) or more MRIs yearly; brain every six (6) months, spine one (1) time a year. Individuals with NF1 or SWN may go longer between scans depending on the personal situation.


    Research needed of MRI contrast agent of Iron Oxide Nanoparticle, or other alternatives, which shows promise not to damage kidneys.


    More on Sources and Additional Information at:

    NF2 Information and Services. "Kidney Failure / Renal Failure" (2017) https://www.nf2is.org/kidney_failure.php



    Awareness Day 8 - Statistics and Confusion of NF Types

    Date Shared: May 8, 2017
    Implied Statistics from various sources:
    • Neurofibromatosis Type 1 (NF1) occurs spontaneously in 1: 3,000 - 1: 4,000.
    • Neurofibromatosis Type 2 (NF2) occurs spontaneously in 1: 25,000 - 1: 33,000.
    • Schwannomatosis (NF3/SWN) occurs spontaneously in 1: 33,000 - 1: 40,000.
    Why exact statistics are uncertain:

    The statistics are uncertain because the chances of NF1 occurrence is likely less than believed as many who believe they have NF1 may, in fact, have either; NF2, or SWN. Forms of NF type known by year:

    • 1882: Von Recklinghausen Neurofibromatosis (NF) Disease
    • 1956: Primary Von Recklinghausen NF, and Central/BAN (Bilateral Vestibular Neuroma) Von Recklinghausen NF
    • 1987: NF1, NF2 and suggested NF3-7
    • 1992: NF1, NF2 Wishart, NF2 Gardner, suggested NF3-7
    • 2003: NF1 (Chromosome 17q11.2), NF2 (Chromosome 22q12.2) suggested NF3-7
    • 2013: NF1, NF2, and NF3/SWN (genetic finding at SMARCB1 protein or LZTR1 protein)

    Genetic Tests before 2013/2014: Genetic testing and False Negatives. The likely reason:
    1. Mosaicism: First generation NF not always possible
    2. Genetics told to look for the wrong NF type

    Diagnosis: While it is unlikely for an individual to develop a different type of NF than their parents, many diagnosed with NF1 have NF2 or SWN. Many issues in the three (3) types are visually similar, even if genetically completely different.

    Necessary Change:

    Any individual with multiple diagnoses of NF should have genetic testing for genetic confirmation of NF type.

    NF genetic testing should assume to look for all three (3) types of NF, not just the type you or your doctor think you and your family have.

    Source:

    https://www.nf2is.org/timeline.php



    Awareness Day 9 - Cafe Spots (CALMs)

    Date Shared: May 9, 2017

    These can be dark brown, or light brown, contrast areas of different skin pigmentation, and may be about 1". Often such a mild difference in skin tone they may be unnoticed or difficult to see in pictures. These can also fade over the years. No treatment is necessary.

    If an individual in a family has Neurofibromatosis (NF); Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), or Schwannomatosis (SWN/NF3) also develop these marks, medical review of health for the same form of NF.

    • NF1 more than 6 CALMS
    • NF2 unlikely to develop 6 CALMS
    • SWN unlikely to develop CALMS

    The presence of Café-au-lait Macules (CALMs) should raise the suspicion of a genetic condition and physical examination for cause is important.

    Also the result of:

    1. Ataxia Telangiectasia
    2. Basal Cell Nevus Syndrome
    3. Bloom Syndrome
    4. Chiak-Higashi Syndrome
    5. Fanconi Anemia
    6. Gaucher Disease
    7. Hunter Syndrome
    8. Legius Syndrome
    9. Maffucci Syndrome
    10. McCune-Albright Syndrome
    11. Multiple Mucosal Neuroma Syndrome
    12. Silver-Russell Syndrome
    13. Tuberous Sclerosis
    14. Watson Syndrome

    Sources:

    1) Plotkin, S. R., Bredella, M. A., Cai, W., Kassarjian, A., Harris, G. J., Esparza, S., ... & Mautner, V. F. (2012). Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PloS one, 7(4), e35711. http://dx.plos.org/10.1371/journal.pone.0035711

    2) Medscape. "Cafe Au Lait Spots Clinical Presentation"



    Awareness Day 10 - Hearing / Hard of Hearing (HoH) / Deafness

    Date Shared: May 10, 2017

    Neurofibromatosis (NF) nerve sheath tumors of Neurofibroma and Schwannoma can grow on any nerve in the body.

    Neurofibromatosis Type 2 (NF2)

    Hallmark of NF2 is the growth of Schwannoma on the Vestibulocochlear Nerve, which branches to the; Cochlear Nerve (hearing) and Vestibular Nerve (balance). These tumors are referred to as Vestibular Schwannoma (VS), or Acoustic Neuroma (AN). NF2 chance of left and right VS is 95%, deafness between 18 to 30.

    These may be Single Cell Schwann masses or Multi-lobular (Multilobular VS). Multilobular are slow growth of more than one Schwann Cell in different parts of the; Vestibular Nerve, Cochlear Nerve, and Facial Nerve.

    First generation NF2 may not face complete deafness. Small tumor growth can result in hearing loss.

    Neurofibromatosis Type 1 (NF1) and Schwannomatosis (SWN/NF3)

    NF1 Neurofibroma with no limit on the location of tumor growth even if other than Optic Glioma, tumor focus is further away from the brain. This lack of limit means these tumors could grow in the brain also resulting in hearing damage.

    SWN nerve sheath tumors are Schwannoma with no limit on the location of tumor growth. This lack of limit means these tumors could grow in the brain also resulting in hearing damage.

    Source:

    NF2 Information and Services. "Cranial Nerve 8 - Vestibulocochlear Nerve" https://www.nf2is.org/cn8.php



    Awareness Day 11 - Regaining Sound with Hearing Implants

    Date Shared: May 11, 2017

    Neurofibromatosis Type 2 (NF2) are at a 95% risk of Deafness between ages of 18-30

    Traditional Hearing Aids or standard Cochlear Implants will not offer sound for individuals deaf from Cochlear Nerve damage.

    Auditory Brainstem Implants (ABI) offer sound for damage to the Inner Ear; the Cochlear Nerve. Designed specifically for individuals with NF2 from Vestibular Schwannoma nerve damage resulting in complete Deafness.

    • ABI are now used for individuals with nerve damage for other reasons as well.
    • The sound is not the same as natural hearing, but enough to help an otherwise deaf individual to have some sound and aid in Speech Reading (Lip Reading).
    More Audiologist Needed to MAP and Tune the ABI processors

    Sound adjustments are necessary every few months year after implantation and afterward necessary yearly. Unfortunately, in the US individuals with ABI need to travel out of state due to lack of Audiologists who can tune ABIs. Many with ABIs after a few years give up on hearing due to lack of Audiologists.

    Learn More at:

    NF2 Information and Services. "Hearing Implants" (2017) https://www.nf2is.org/hearing_implants.php

    NF2 Information and Services. "USA ABI Audiologists" (2016) https://www.nf2is.org/abi_audiologists.php



    Awareness Day 12 - Malignancy and End of Life Decisions

    Date Shared: May 12, 2017

    Unlike NF1 people with NF2 are less likely for Tumor Malignancy. However, due to limits of what treatments can do for brain tumors, many people with NF2 need to consider End of Life decisions for themselves, shortly after being considered adults. Some do not live long enough to do this on their own.

    Not all Benign tumors can be completely removed, or irradiated since some areas of the brain are inoperable and radiation cannot be used close to certain parts of the brain stem. All treatments have side effects, and treatments can only manage typically one tumor at a time. Inability to treat all tumors depending on growth rate can result in unpreventable brain compression or deadly nerve damage.

    There is no cure for NF, research for a cure is needed.

    Awareness Day 13 - Vestibular System and Balance

    Date Shared: May 13, 2017

    Individuals with Neurofibromatosis Type 2 (NF2) develop bilateral Vestibular Schwannoma (VS) tumors. Damage from VS on the Vestibular Nerve results in balance issues.

    The Vestibular System is necessary for equilibrium. When the Vestibule does not function on both sides of the head; Bilateral Vestibular damage, an individual, will have difficulty with balance; moving head, standing, and walking. Recovery involves practice with of eye focus among other things.

    An individual with bilateral damage may have the ability to stand a few days after damage occurs, but proper physical therapy is necessary or the individual may not walk properly and can slowly develop damage to vertebrae. Even following physical therapy for vestibular damage, may result in unsteady walking, and have poor balance in bad lighting situations.

    Vestibular Rehabilitation Therapy (VRT) is necessary.
    • Stand - Never Give Up!
    • Walk while Leaning - Never Give Up!
    • Walk without Leaning - Never Give Up!
    • Walk while moving Head - Never Give Up!
    • Close Eyes while Standing - Never Give Up!
    • Stairs - Never Give Up!
    • Walk Backwards - Never Give Up!
    • Uneven Surfaces - Never Give Up!

    One foot in front of the other - Repeat!

    More in home VRT therapists are needed.

    Source:

    NF2 Information and Services. "Balance Issues and Recovery" (2017) https://www.nf2is.org/balance_issues.php



    Awareness Day 14 - Bone Health and Vitamin D

    Date Shared: May 14, 2017
    Neurofibromatosis Type 1 (NF1)

    A common issue for NF1 is Bone Abnormalities; bone weakness at childhood and improper bone growth formation.

    X-rays for Bone Density Tests can monitor bone health. Early childhood diagnosis of individuals with NF1 may help learn bone density issues before frail adult teeth grow in and minimize the number of broken bones. An individual with bone abnormalities would require more Vitamin D than an otherwise healthy individual.

    Neurofibromatosis Type 2 (NF2)

    Vestibular Nerve damage from Vestibular Schwannoma tumors leaves individuals with NF2 with bad balance. Physical therapy to learn proper compensation can help minimize chances of falling. Things that can be done to improve and maintain strong bone health is important. Brain surgeries result in damage to the skull.

    Improper diagnosis of NF1 instead of NF2 could result in unnecessary X-Rays, Ionizing Radiation, that may result in tumor growth.

    NF1 and NF2

    Isolation and concern for either broken bones and falling often leave many with both NF1 and NF2 indoors more than is otherwise healthy individuals, which alone can result in Vitamin D deficiency.

    Options:

    Cow Milk, Almond Milk, Vitamin D, and Sun. Almond Milk has more Vitamin D per ounce than milk from an animal. Vitamin D in pill form can be ineffective if taken the same time as acidic substances; coffee, and oranges

    Sources for More Information:

    NF2 Information and Services. "Radiation Treatments" (2017) https://www.nf2is.org/radiation.php

    NF2 Information and Services. "Spine Abnormalities" (2007) https://www.nf2is.org/spine_deformities.php



    Awareness Day 15 - Vertebrae and Spinal Cord Damage

    Date Shared: May 15, 2017
    Neurofibromatosis Type 1 (NF1)

    Some individuals with NF1 develop Scoliosis, Kyphosis, or Kyphoscoliosis. This damage can result in damage to not just the vertebrae sitting in the wrong position and growing wrong, but the rest of the spinal cord and body.

    Vertebrae formation for individuals with NF1 can become worse than images shared here.

    Neurofibromatosis Type 2 (NF2)

    For individuals with NF2; Scoliosis, Kyphosis, or Kyphoscoliosis can occur from as a result of:

    • Vestibular Schwannoma (VS): VS tumor growth can result in poor posture and quickly lead to poor spine formations.
    • Spinal Cord Tumors: Schwannoma or Ependymoma tumor growth along the spinal cord can result in, damage to Vertebrae with growth, or damage the vertebrae during tumor management.
    Issue

    What damages the vertebrae also results in damage to the spinal cord and the rest of the body and result in mobility issues leaving an individual unable to walk or move; Paraplegia and Tetraplegia (Quadriplegia).

    Treatment:
    • Removing Vertebrae
    • Spinal Fusion
    • Placement of Hooks, Screws, and Rods
    • 3d Printing for Titanium Supports - As of today, 3d printed has helped at least two (2) people.

    Hospitals need to work with 3d printing for more personalized care.

    Source for More information:

    NF2 Information and Services. "Spinal Abnormalities." (May 2017) https://www.nf2is.org/spine_deformities.php



    Awareness Day 16 - The Brain and Learning Issues

    Date Shared: May 16, 2017
    Neurofibromatosis Type 1 (NF1)

    NF1 often results in; Childhood Learning Issues and Attention-deficit / Hyperactivity Disorder (ADHD). Issues may include:

    • Reverse letters
    • Have problems with positioning objects in space
    • Experience difficulties distinguishing subtle differences between similar sounds
    • Misunderstand social cues and body language
    • Problems putting things in an order that makes sense
    • Trouble figuring out the meaning of symbols and words
    • Difficulty in organizing new information
    Neurofibromatosis Type 2 (NF2 and Schwannomatosis (SWN/NF3)

    Individuals with NF2 or NF3/SWN may develop Cognitive Issues as a result of; 1) brain tumor growth, or following either Brain Tumor 2) Surgery, or 3) Tumor Radiation/Radiotherapy treatments (Gamma Knife, CyberKnife, or Proton Therapy). Microsurgery recovery includes an end to cognitive issues, even if recovery can take time. These issues may include:

    • Trouble Concentrating
    • Mental Fog
    • Memory loss; names, dates, or numbers
    • Impaired; math, organizational, and language
    • Problems Multitasking
    • Processing Information
    • Confusion
    Other things that can result in ADHD:

    If a mother taking Acetaminophen during pregnancy, the child is at risk of ADHD. [Medical development in 2016]

    Learn More:

    Washington University in St. Louis. NF Center. "Learning and Attention Deficits" https://nfcenter.wustl.edu/what-is-nf/neurofibromatosis-type-1/learning-attention-deficits/

    NF2 Information and Services, "Brain Matter" (2017) https://www.nf2is.org/brain_matter.php

    Medical News Today. "Acetaminophen use in pregnancy linked to autism, ADHD in offspring" (July 2016) http://www.medicalnewstoday.com/articles/311418.php



    Awareness Day 17 - NF1 Day

    Date Shared: May 17, 2017

    NF1 Day is May 17th: Neurofibromatosis Type 1 (NF1) is a condition which develops because of damage to Chromosome 17.

    1. Neurofibromatosis (NF) is a genetic condition more prevalent than other genetic conditions of; Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease, and Tay Sachs combined.
    2. NF1 issues are not contagious, they can only be passed from parent to child.
    3. NF is a common condition, yet individuals with NF1 continue to have difficulty with diagnosis, even if others in their family are known to have NF1.
    4. Confirmed NF1 diagnosis by a Neurologist is necessary to receive proper care, but without a diagnosis, it is not possible to get the necessary help. Things an individual with NF1 may need include; help with pain management from tumor growth on nerves, or help with education.
    5. Even with a diagnosis, individuals with NF1 have difficulty seeing proper care of issues.
    6. There is no cure for Neurofibromatosis.


    Awareness Day 17 - Tinnitus and Hearing Loss

    Date Shared: May 17, 2017

    Schwannoma tumor damage of both the Vestibular Nerve (balance) and Cochlear Nerve (hearing), called Vestibular Schwannoma (VS), the hallmark tumor of individuals with Neurofibromatosis Type 2 (NF2), slowly starts as Subjective Tinnitus before the development of Deafness.

    When Tinnitus starts, it is important to see an Otolaryngologist also known as ENT (Ear Nose and Throat Doctor) immediately and Neurologist for an MRI.

    Things that can Help:
    • White Noise Generator
    • Hearing Aids or Implant
      • Cochlear Implant (CI)
      • Auditory Brainstem Implant (ABI)
    Other reasons for Tinnitus:
    • Stress
    • Aspirin as well as other medications
    • Vitamin B12 Deficiency
    Learn More:

    NF2 Information and Services. "Tinnitus" (2017) https://www.nf2is.org/tinnitus.php



    Awareness Day 18 - Facial Nerve Damage / Facial Paralysis

    95% of individuals with Neurofibromatosis Type 2 (NF2) develop Vestibular Schwannoma tumors bilaterally (left and right). VS grow for other reasons, but typically only one side.

    The growth of VS can result in damage to Cranial Nerve 7 (CN7), the Facial Nerve resulting in Facial Paralysis. Facial Nerve damage is often thought of as just a possible cosmetic concern, or when seen in an individual with related to a false assumption of the history of having had a Stroke.

    Actual Issues of Facial Paralysis:

    Individuals with NF2 commonly suffer from Seizures and rarely suffer from Strokes, but can. If hospitalized for help with Seizures, a Stroke is often the assumed issue.

    • Eyes: This nerve controls the ability to blink or produce tears.
    • Eating: Holding food in your mouth becomes very frustrating, and awkward. Drinking with a straw is often necessary.
    • Talking: The same nerves that make eating difficult can also make properly or clearly pronouncing certain letters hard to do, letters like; B, P, M, and W.
    • Droopy Face: Lack of complete eyelid closure and a fallen smile.
    • Nasal Issues: A constant runny nose or congestion.
    • Teeth: Problem with saliva production resulting in Dry Mouth and Tooth Decay.
    Some methods include
    • Facial Nerve Physical Therapy
    • Food and Herbs or Supplements - Vitamin B12
    • Acupuncture
    • Facial Reanimation surgeries: nerve grafts or muscle transfers

    Many methods to help correct this are available, but none leads to 100% recovery even after years.

    Source:

    NF2 Information and Services. "CN7 Facial Nerve Damage" (2017) https://www.nf2is.org/facial_nerve.php



    Awareness Day 19 - Eye / Vision Issues

    Neurofibromatosis Type 2 (NF2)

    Individuals with NF2 should see a Neuropathologist to monitor eye health, with eye exam and review of recent brain MRIs. Doctors who study to become Opathologist without Neurology are not trained to read MRIs or have the education to perform tests to find eye issues that result in nerve damage.

    Many with NF2 need to see an eye doctor in early childhood, before old enough to start school for treatment of Juvenile Cataracts.

    1. Blurry Vision
    2. Eye Light Sensitivity
    3. Double Vision
    4. Control of Eye Movement -
      1. Inability to move; Left/Right/ Up/Dow, or Rotate
      2. Constant Movement inability to lock eyes on objects
    5. Temporary Blindness
      1. Ocular Migraines
      2. Tumor Pressure Deep in the Brain
    6. Permanent Blindness - Damage to Optic Nerve
    7. Constant Severe Dry Eyes

    Neurofibromatosis Type 1 (NF1)

    Individuals with NF1 should see an Opathologist to monitor eye health as well. NF1 eye issues include:

    • Lisch Nodules: Brown or Yellow spots in the eyes; no effect on vision.
    • Optic Glioma: Approximately 15% - 40% of individuals with NF1 develop Optic Glioma that may result in vision issues in the eye. These do not always result in vision problems. - Grow in 15% - 40% of individuals with NF1
    Sources:

    https://www.nf2is.org/eye_issues.php

    http://emedicine.medscape.com/article/1219222-overview



    Awareness Day 20 - Visible Tumor Masses

    Individuals with Neurofibromatosis: Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), and Schwannomatosis (NF3/SWN) may grow tumors seen as visible bumps just under the skin surface. Which tumors types can grow depending on NF type.

    Individuals with NF2 and SWN/NF3 develop fewer visible tumor masses than individuals with NF1.

    NF Skin Surface Tumors:
    • NF1 skin surface tumors are Neurofibroma either; Cutaneous Neurofibroma (not painful tumors), or Subcutaneous Neurofibroma (painful tumors).
    • NF2 skin surface tumors are Schwannoma either; Cutaneous Schwannoma (not painful tumors), or Subcutaneous Schwannoma (painful tumors).
    • NF3/SWN skin surface tumors are Schwannoma either; Cutaneous Schwannoma (not painful tumors), or Subcutaneous Schwannoma (painful tumors).
    Added Note:
    • Cutaneous Neurofibroma and Cutaneous Schwannomalook look the same from the skin surface.
    • Subcutaneous Neurofibroma and Subcutaneous Schwannomalook look the same from the skin surface.

    The graphic includes images of tumors of individuals with NF2.

    Source:

    NF2 Information and Services. "NF2 Tumors> (2017) https://www.nf2is.org/tumor_growth.php



    Awareness Day 21 - Brain Tumors and NF2

    Approximately 50% of individuals with Neurofibromatosis Type 2 (NF2) grow Meningioma tumors, in addition to Schwannoma tumors. Unlike Schwannoma, Meningioma does not grow as part of a nerve.

    A brain tumor does not need to be Malignant or grow as a part of a nerve to cause damage.

    Simple size and locations alone can result in life-threatening issues, some of which might be:

    • Thinking and Memory from Brain Matter Compression.
    • Epilepsy (seizures) from Brain Matter Compression.
    • Cranial Nerve damage from pressure on nerves.
    • Stroke from damage from pressure on arteries in the brain.
    • Mobility issues from brainstem/upper spinal cord compression.
    • Intracranial Pressure (Obstructive Hydrocephalus) that results in brain toxicity (Bacterial Meningitis). The flow of Cerebrospinal-Fluid (CSF) is necessary to filter chemicals and waste matter away from the brain.

    It is important to monitor the rate of growth for each tumor. But not every Meningioma needs treatment. The growth of any tumor can result in the transformation from Benign to Malignant.

    Source

    NF2 Information and Services. NF2 (MERLIN) (2017). https://www.nf2is.org/merlin.php



    NF2 Awareness Day - May 22

    Neurofibromatosis Type 2 (NF2) is a genetic condition which develops because of damage to Chromosome 22.

    • NF2 best known simply as a genetic condition that results in brain tumors that cause hearing loss and possibly other brain tumors. Doctors rarely expect to see more. - Hospitals and Doctors need to know more about NF2.
    • NF2 is a Genetic condition where tumors primarily grow on nerves for hearing, and through the entire central nervous system; brain and spinal cord. NF2 tumors may grow in all regions of the body depending on an individual's mutation of NF2.
    • NF2 leaves many with single sided deafness before the diagnosis of NF2.
    • Many individuals with NF2 are deaf (98%), and partially blind by the age of 30.
    • Many with NF2 face Paraplegia or Tetraplegia (Quadriplegia) from either Spinal Cord Tumors or Peripheral Neuropathy.
    • NF2 is not a Cancer condition but shares genetic commonalities with several Cancer conditions.

    There is no cure for Neurofibromatosis Type 2

    Research for a Cure is needed.



    Awareness Day 23 - Vertigo, Dizziness, and Lightheadedness

    When individuals with Neurofibromatosis Type 2 (NF2) start to develop the growth of Vestibular Schwannoma (VS) it can easily result in; Vertigo, Dizziness, Lightheadedness, and Nausea. Once this starts, the person is at higher risk of facing these issues when medications include these things as possible side effects. Some of these medications include:

    • Aspirin
    • Codeine
    • Tylenol #3 (Tylenol-Codeine)
    • Oxycodone/Acetaminophen (Percocet)
    • Prednisone (Steroid)

    Things to Think About:
    • Know all side effects of medications you are taking. Following brain surgery, have a family member, or friend to ask your nurses what medications you are given to look into side effects.
    • Medications in the Anticholinergic Antiemetics family can help manage this list of side effects. An Over-the-Counter (OTC) option for this is Dramamine (Dimenhydrinate).
    • Hospitals rarely see enough people with VS damage, to think to include medication that can help but have some variation on hand as needed if asked. Talk to your doctor.
    • Talk to your local pharmacist about side effects of medications you plan to take.

    Source:

    NF2 Information and Services. "Commonly Required Medication" (2017)



    Awareness Day 24 - Nerve Tumors and Pain

    Neurofibromatosis (NF) results in the growth of nerve sheath tumors. For;

    • NF1, Neurofibroma tumors
    • NF2 or Schwannomatosis (SWN/NF3), Schwannoma tumors

    These tumors cause damage to the nerve ending, surrounding nerves, muscles, bones, and organs. Prescription strength pain killers are often necessary and sometimes not strong enough.

    • Treatments that only stop growth or shrink tumors by a small percentage is not the answer.
    • Surgeries to remove the tumors can lead to other issues but may be needed to prevent others and with time stop the pain.
    • Doctors need to take complaints of pain seriously.
    • Stronger drug trial treatments or other options to put an end to growth or development of Neurofibromas and Schwannomas is needed.


    Awareness Day 25 - Epilepsy from Brain Tumor TBI

    The likely causes of Epilepsy for individuals with Neurofibromatosis Type 2 (NF2) when dealing with or recovering from Traumatic Brain Injury (TBI), including:

    1. Brain Tumor Burden
    2. Rapid Brain Tumor Growth
    3. Treatment-induced from:
      • Radiation Therapy/Radiosurgery: Brain Cell Necrosis (Brain matter cell death)
      • Surgery: Glial Scars, or Brain matter shift after tumor or lesion removal.
      • Drug-Based Tumor Treatment: A Drug-Based tumor treatment, all of which are in clinical trials for NF2 tumors, may result in Epilepsy if brain tumor sizes change dramatically in a short period.
    4. Stroke: A Stroke from an abnormal blood vessel or artery flow in the brain.
    Additional Facts:
    1. TBI from; 1) Brain tumor burden, 2) rapid brain tumor growth, 3) brain radiosurgery, and 4) brain surgery the most likely reasons for an individual with NF2 to develop Epilepsy.
    2. The risk from Drug-Based treatments is possible but unlikely since none of the drug-based treatments to date change NF2 tumors quickly or by a large percent.
    3. It is possible but not common for NF2 tumors to result in Strokes. A Seizure situation on one side of the body is the result of an issue on the other side of the brain, similar to Strokes.
    4. Individuals with NF2 may only face epilepsy for a few years during healing, the adjustment of tumor changes, or recovery of surgery.
    5. Many surgeons often prescribe Epilepsy medication for a few months following tumor treatments.

    Hopefully, more surgeons consider giving Epilepsy medication following surgeries.

    Source

    NF2 Information and Services. "Epilepsy" (2017) https://www.nf2is.org/epilepsy.php



    Awareness Day 26 - The NF2 Gene

    "The NF2 gene provides instructions for the production of a protein called Merlin (Schwannomin). Merlin is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves."[1]

    "This protein functions as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way."[1]

    "More than 400 mutations in the NF2 gene have been identified in people with the condition Neurofibromatosis Type 2 (NF2)." [1]

    "While Schwannoma are part of the conditions NF2 and Schwannomatosis (SWN/NF3), Isolated Schwannoma tumors can develop in people who do not have these disorders.

    Researchers have determined that loss or inactivation of the NF2 gene also occurs in many cases of Mesothelioma (Lung Cancer)." [1]

    Notes:
    1. Isolated Schwannoma - One (1) Vestibular Schwannoma (VS). - Individuals with the condition NF2 are only a small percentage of individuals who develop VS. Not all Isolated Schwannoma develop on the Vestibular nerve.
    2. The NF2 condition may be rare, but, research for the condition of NF2 may help find a cure for individuals with NF3, random development of Schwannoma or Meningioma, and Mesothelioma (Lung Cancer).
    Questions - NF2 and Mesothelioma:
    1. Does this mean an individual with the conditions of NF2 or NF3 are at risk of Mesothelioma? No.
    2. Does this mean that individuals with the conditions of NF2 or NF3 might have an increase in Schwannoma growth from Asbestos or Cigarettes?
    Possible. It has been proven that there is a chance of increase of growth of Meningioma from Cigarettes. Sources:
    1. The Genetics Home Reference. "NF2 Gene" https://ghr.nlm.nih.gov/gene/NF2
    2. NF2 Information and Services. "Tumor Growth" https://ghr.nlm.nih.gov/gene/increased_tumor_growth


    Awareness Day 27 - Identifying an Individual with NF2

    Issues for Neurofibromatosis Type 2 (NF2) typically, cannot be seen outside of an MRI of brain and spine, or without an eye exam.

    Criteria for diagnosis of NF2 requires more than the presence one (1) brain tumor.



    Awareness Day 28 - Doctor visit Issue

    Neurofibromatosis (NF) can be overwhelming as NF1, NF2, and Schwannomatosis (SWN) can result in many varying problems.

    Preplanning doctors' visits is ideal since:

    • There are often too many issues to remember when seeing a doctor.
    • An individual may take medications that are hard to remember the spelling.
    • There are always many questions to ask as well as issues that need update status with your doctor.

    The most overwhelming part can be the wait to review recent MRIs. The viewing of these with a doctor can often make it difficult to remember everything in discussions.

    Preplanning visits with questions and issues you are experiencing in paper or a list on your smartphone is ideal. Saving copies of MRI's is also a good idea, to share with GP/PCP, Physical Therapists, or other doctors if needed later. Most MRI facilities with give copies to patients of their MRI's on CD for free or $20. It is of the utmost importance to remember; you are your best advocate.

    Important Part:

    DO NOT FORGET YOUR QUESTIONS LIST!

    The sample included is also helpful for Hard of Hearing or Deaf individuals with the Questions and Answers of health at doctor's visits.



    Awareness Day 29 - Isolation - Deafness and Skin Tumors

    Individuals with Neurofibromatosis (NF) may face isolation as a result of; Hearing Loss, or Skin Surface Tumors.

    Hearing Loss - Hard of Hearing and Deafness

    When an individual develops hearing loss, they are expected to use a hearing aid or hearing implant to correct hearing loss. Neither can help with replacement of all sound, especially in environments where many people talk at the same time.

    Many who are deaf from NF2 are isolated at even family events if the family has not learned any form of sign language.

    In the deaf community, it is often frowned upon to communicate with an individual trying to use hearing aids or implants.

    With this in mind, many NF2 patients become stuck in the middle of the Hearing and Deaf cultures.

    Reasons to Learn Sign Language:
    • Babies: Sign Language: Sign language can be used to communicate with babies before they can talk.
    • Age-Related Deafness: It is difficult to learn a new language later in life, but learning sign language can prevent isolation issues in elderly. Isolation from an inability to communicate with others can make issues of Alzheimer's/Dementia potentially progress faster.
    Skin Surface Tumors

    Individuals with NF1, NF2, and Schwannomatosis (NF3/SWN) can develop skin surface tumors. The quantity of these masses in individuals with NF1 often results in Isolation due to responses from others seeing these tumors.

    NF1 is frequently confused with "Elephant Man's Disease."



    Awareness Day 30 - NF2-associated Polyneuropathy

    Approximately sixty-six percent (66%) of individuals with the condition of Neurofibromatosis Type 2 eventually develop Peripheral Neuropathy many of whom suffer from Polyneuropathy.

    Polyneuropathy is damage or disease affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain.

    As a result of the issue with Peripheral Neuropathy, some individuals are and have been diagnosed, with the condition of Multiple Sclerosis (MS) instead of NF2.

    The only treatment for is painkillers.

    No treatment for prevention of NF2-Associated Polyneuropathy.



    Awareness Day 31 - Fatigue from Tumor Nerve Damage
    Vitamin B12 Deficiency and Poor Immune System

    Neurofibromatosis (NF); NF1, NF2, and Schwannomatosis (SWN/NF3) can leave individuals with severe fatigue from tumor cell growth on nerves which can result in; B12 Deficiency and a Poor Immune System.

    • Vitamin B12 Deficiency: Individuals with NF may be at risk of B12 deficiency since this vitamin helps with the development of cells for nerve health. With tumor cell growth on nerves individuals with NF may need more B12 than the average person. However; the body can have an issue with B12 absorption in food alone and a supplement may be the best course to prevent deficiency. Talk to your doctor about Vitamin B12 or B-Complex.
    • Poor Immune System: Tumor cell growth and recovery from treatments; tumor drug-based treatments, surgeries, and radiosurgery can result in periods of the poor immune system for possibly only a few months or years with Iron Deficient Anemia. Specific foods may help but talk to your doctor about taking an Iron supplement.

    When or if these things may be, an issue would show up on a regular blood test. Actual dose or if supplements are necessary should be determined based on a review of recent blood tests, in addition to a review of numbers for possible kidney issues.

    It is in the best interest of individuals with NF for General Physician or Primary Care Physician (GP/PCP) to have some information about what NF can do and issues that may appear in bloodwork.





    Additional Facts

    1. Neurofibromatosis (NF); NF1, NF2, and Schwannomatosis (NF3/SWN), are genetically-determined disorders which affect more than 100,000 Americans. There is no cure for NF, research for a cure is needed.

    2. 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.
    3. Neurofibromatosis awareness is needed. Many people do not know they have a form of NF until immediate surgery or radiation therapy is required. Early diagnosis can help allow for early intervention to slow down tumor development. https://nf2is.org/increased_tumor_growth.php

    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. NF and its issues are not contagious.

    5. Neurofibromatosis tumor management options include; watch and wait, surgery to remove one tumor at a time, or radiation treatments. 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.

    6. 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.

    7. 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 surface of the skin. https://www.nf2is.org/tumor_growth.php

    8. Before 1996 calculations on the number of individuals in the world with NF2 increased understanding of genetics and finding more individuals the first-generation NF2 who were Spontaneous-Mosaic NF2. Individuals with Mosaic NF2 might only have, Unilateral Vestibular Schwannoma (VS on one side), one (1) or more Meningioma, 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 the NF2 condition.

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

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

What is NF2? | About Us | Treatment Options | Sitemap

Disclaimer: Neurofibromatosis Type 2 - Information and Services, www.nf2is.org, is not run by medical experts, affiliated with any healthcare organization or any other company. No assurance can be made to the accuracy or completeness of the information provided here, the accuracy of other sites to which this site links, or of sites that link to this site. - Read More

Copyright © 2008 - 2017