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Neurofibromatosis
By B. T.
What is
Neurofibromatosis?
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The neurofibromatoses are genetic disorders of the
nervous system that primarily affect the development
and growth of neural (nerve) cell tissues. These
disorders cause tumors to grow on nerves and
produce other abnormalities such as skin changes
and bone deformities. The neurofibromatoses occur
in both sexes and in all races and ethnic groups.
Scientists have classified the disorders as
neurofibromatosis type 1 (NF1) and
neurofibromatosis type 2 (NF2). Other or variant
types of the neurofibromatoses may exist, but are not
yet identified.
What is NF1?

NF1 is the more common type of the neurofibromatoses,
occurring in about 1 in 4,000 individuals in the United States.
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. Previously, NF1 was known as
peripheral neurofibromatosis (or von Recklinghausen's
neurofibromatosis) because some of the symptoms--skin
spots and tumors--seemed to be limited to the outer nerves,
or peripheral nervous system, of the affected person. This
name is no longer technically accurate because central
nervous system tumors are now known to occur in NF1.
What are the Symptoms of
NF1?
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five or more light brown skin spots (cafe-au-lait macules) measuring
more than 5 millimeters in diameter in patients under the age of puberty
or more than 15 millimeters across in adults and children over the age
of puberty
two or more neurofibromas (tumors that grow on a nerve or nerve
tissue, under the skin) or one plexiform neurofibroma (involving many
nerves)
freckling in the armpit or groin areas
benign growths on the iris of the eye (known as Lisch nodules or iris
hamartomas)
a tumor on the optic nerve (optic glioma)
severe scoliosis (curvature of the spine)
enlargement or deformation of certain bones other than the spine
When Do Symptoms Appear
for NF1?
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Symptoms, particularly those on the skin, are often
evident at birth or during infancy, and almost always
by the time a child is about 10 years old.
Neurofibromas become evident at around 10 to 15
years of age. In most cases, symptoms are mild and
patients live normal and productive lives. In some
cases, however, NF1 can be severely debilitating.
Symptoms and severity of the disorder may vary
among members of affected families.
How is NF1 treated?

Treatments are presently aimed at controlling
symptoms. Surgery can help some bone
malformations. For scoliosis, bone surgery may be
combined with back braces. Surgery can also remove
painful or disfiguring tumors; however, there is a
chance that the tumors may grow back and in greater
numbers. In the rare instances when tumors become
malignant (3 to 5 percent of all cases), treatment may
include surgery, radiation, or chemotherapy.
What is NF2?

This less common of the neurofibromatoses affects about 1 in
40,000 persons. NF2 is characterized by bilateral (occurring on
both sides of the body) tumors on the eighth cranial nerve. It was
formerly called bilateral acoustic neurofibromatosis or central
neurofibromatosis because the tumors, which cause progressive
hearing loss, were thought to grow primarily on the auditory
nerve, a branch of the eighth cranial nerve responsible for
hearing. Scientists now know that the tumors typically occur on
the vestibular nerve, another branch of the eighth cranial nerve
near the auditory nerve. The tumors, called vestibular
schwannomas for their location and for the type of cells in them,
cause pressure damage to neighboring nerves. In some cases,
the damage to nearby vital structures, such as other cranial
nerves and the brainstem, can be life-threatening.
What are the Symptoms of
NF2?
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To determine if an individual has NF2, a physician looks for the
following:
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1. bilateral eighth nerve tumors,
2. a parent, sibling, or child with NF2 and a unilateral eighth
nerve tumor,
3. a parent, sibling, or child with NF2 and any two of the
following:
 glioma,
 meningioma,
 neurofibroma,
 schwannoma, or
cataract at an early age.
When Do
Symptoms of NF2 Appear?

Affected individuals may notice hearing loss as early
as the teen years. In addition to changes in hearing
that may occur in one or both ears, other early
symptoms may include tinnitus (ringing noise in the
ear) and poor balance. Headache, facial pain, or
facial numbness, caused by pressure from the
tumors, may also occur.
How is NF2 treated?
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Treatments for NF2 are aimed at controlling the
symptoms. Improved diagnostic technologies, such
as MRI (magnetic resonance imaging), 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. Other options include partial removal of tumors,
radiation, and, if the tumors are not progressing
rapidly, the conservative approach of watchful waiting
Symptoms
What scientists know
about the NFs...
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Formerly the neurofibromatoses were grouped as one
disorder with at least two variations. Scientists now
know that NF1 and NF2 are two distinct entities
because the genes believed to be responsible for
them are located on different chromosomes. The NF1
gene is on chromosome 17, while the gene for NF2 is
on chromosome 22.
What scientists know
about the NFs… (cont.)
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Humans have 23 pairs of chromosomes, receiving one set
of 23 chromosomes from each parent. Chromosomes
carry genes that determine an individual's characteristics,
such as sex, stature, hair and eye color, and distinctive
family traits. Genes produce proteins that control an
individual's development and health. If an inherited gene is
defective, or a gene becomes defective spontaneously
before birth, a genetic disorder may result. The
neurofibromatoses are inherited as dominant disorders,
which means that if either parent has the defective gene,
each child born to that parent has a 50 percent chance of
inheriting the defective gene.
Research
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The National Institute of Neurological Disorders and
Stroke (NINDS), a unit of the Federal Government's
National Institutes of Health (NIH), has primary
responsibility for conducting and supporting research
on neurological disorders. The Institute sponsors
basic studies aimed at understanding normal and
abnormal development of the brain and nervous
system, and clinical studies to improve diagnosis and
treatment of neurological disorders. In conjunction
with the NIH's National Cancer Institute, the NINDS
encourages research specifically targeted on the
neurofibromatoses.
Research (cont.)
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The Interinstitute Medical Genetics Research
Program at the NIH Clinical Center conducts NF2
family history research, including a study involving
individuals and families with NF2. With information
from this study, investigators have confirmed the
location of the NF2 gene on chromosome 22. Also,
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
Personal Story
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On Sunday, December 27, 1998, former SayWhatClub Forum Birthday Elf Marianne
Schneider slipped into a coma. Three days later, her twelve-year battle with NF-2
came to an end, when she died at home in her own bed, surrounded by her family.
Marianne came into the world in an ordinary way, and left it an extraordinary person.
Born the sixth of eight children to Joseph and Betty Lou Schneider, of Sharon Hill, PA,
Mari was raised in the Catholic faith and attended Catholic elementary and high
schools. It was in her senior year in high school that the diagnosis of NF-2 was made.
Initially, Marianne's goal was to attend college as a business major, then make her
mark in the world. The many changes that NF-2 foisted on her life caused her to
rethink her values and goals, resulting in Mari's decision to enter a helping profession
where she could give back some of the love and care she found herself receiving as a
person living with NF-2.
Surgery for bilateral acoustic neuromas resulted in Marianne becoming hard of
hearing, and later deaf, so she entered Gallaudet University, a liberal arts university
for deaf and hard of hearing students, majoring in social work. Marianne worked hard
toward her goal, achieving high honors, but subsequent surgeries took their toll,
forcing Marianne to drop out of college at the end of her Junior year.
Personal Story (continued)
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Marianne endured 13 major surgical procedures on her brain and spinal cord between
the time she was diagnosed at age 18 and her final surgery at age 24. Her final
surgery left her quadriplegic and unable to continue her college education, but Mari
was not about to let that interfere with her goal to give back to others the love and care
she herself was receiving.
As a member of the SayWhatClub, an email-based organization serving hard of
hearing, deaf, and late-deafened persons the world over, Marianne volunteered her
time and energy as "The Birthday Elf." Mari's responsibilities included surprise
announcements of member's birthdays so everyone would have the opportunity to join
in on congratulations. In the early days of the SayWhatClub, Mari's efforts helped
create a feeling of family within this online community.
In 1995, Marianne helped found the NF2Crew, an email-based organization that
serves people living with NF2, their families, and their loved ones. The NF2Crew was
primarily an offshoot of the SayWhatClub, formed when several swc members who
had NF2 felt there was a need for an online group focused specifically on the needs of
persons living with NF2.
( continued)
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Marianne's community service was not limited to what she could do from her computer.
Locally, she successfully got her town to remove architectural barriers from a park so wheel
chair users could easily access it and to install needed curb cuts. She was responsible for
Temple University Hospital providing interpreters for deaf patients and for TTY's and closed
caption television in patient's rooms. Marianne's lobbying also resulted in a bank replacing its
outside ATM machine with one accessible for wheel chair users. She also succeeded in
getting her church to install a wheelchair ramp so she and several other mobility impaired
communicants could attend Sunday services again.
Marianne's community service included volunteer work with a number of organizations. She
volunteered for Barrier Awareness of Elwyn, PA, an organization that educated the public
about issues of public access for disabled people. Marianne would work with a team that put
on puppet shows at public schools. Her character was a Muppet-like deaf girl who would
teach the children in the audience about deaf people and sign language, along with other
disability issues. These performances aimed to educate children about the differently-abled
to prevent stereotypes and biases from becoming what they perceived differently-abled
persons to be.
Marianne also volunteered for the Valley View Home for the Deaf assisted living program of
Elwyn, PA, and for the Deaf-Hearing Communication Centre,(sic) of Holmes, PA. At the
Valley View Home for the Deaf, Mari spent time with Deaf senior citizens, brightening up
their day with her wit and humor and a game of rummy or two. At the Deaf-Hearing
Communication Centre, Mari cataloged their office library, among her other duties. (It should
be noted here that before Mari withdrew from Gallaudet University, she founded and was first
president of ALDA-Metro DC, a chapter of the Association of Late-Deafened Adults. The
chapter continued for a while after Mari withdrew, but without her guidance and leadership at
the helm, it subsequently disbanded.)
Personal Story (continued)
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Marianne participated in the local chapter of Square Wheels, a square-dancing
association for persons in wheel chairs. Since Mari was profoundly deaf, this
presented a challenge, as she could not hear the music nor the directions called out
by the dance master. Mari solved that problem by making up signs and gestures to
use for dance calls, teaching them to the dance master, and became a skilled dancer
as well as a popular friend and member.
People meeting Marianne were always astonished by the person they came to know.
How could someone with a broken body and no hearing be so active and accomplish
so much? And how is it possible for such a person to have such a beautiful attitude
and positive outlook on life? Mari's patent response--as honest as it was direct--was
that her strength and positive attitude flowed from two sources: her deep faith in God,
and her mom's ever present love. Always she credited those two with making her the
person whom she was. And people found her to be a very impressive person. In a
videotaped interview, Mari once said, "A lot of people say 'God bless you' after
meeting me. I tell them He already has."
( continued )
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Word got around, and recognition followed. On April 20, 1997, Marianne's Alma Mater,
Archbishop Prendergast High School, elected Mari to their Alumni Hall of Fame, for ". .
. inspiring an appreciation of Catholic school values." On October 17, 1997, The
Archdiocese of Philadelphia, PA, conferred on Marianne the Distinguished Catholic
Graduate Award, for being an outstanding role model for Catholics, young and old.
And on March 31, 1998, The Mercy Health Care System of Philadelphia presented
Marianne with the Courage to Come Back Award, for her superior achievements in
overcoming extreme physical disability. All of this recognition was well deserved, but
left Marianne feeling self-conscious, as her humility and modesty were genuine.
However, the recognition did not stop here. Eventually, word got back to Vatican City
in Rome and on June 14, 1998, in a ceremony presided over by Cardinal Anthony
Bevilaqua, in Saints Peter and Paul Basilica in Philadelphia, PA, Pope John Paul II
named Marianne Schneider to the Papal Honor of the Cross, "Pro Ecclesia et
Pontifice." Established in 1888 by Pope Leo XIII, the Papal Honor of the Cross is
awarded to individuals in recognition of special service to the Church and the Papacy.
Marianne could not believe she was worthy of such a high honor, but those who knew
and loved her knew better.
Personal Story (continued)
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Sadly, the following month, Mari learned she had a life threatening tumor that her
surgical team could do nothing about. She chose to die at home, among her
loved ones, and set about the task of wrapping up her extraordinary life. Her
parents, her sisters and brothers and some of her friends took on the role of
facilitating a comfortable, dignified death for Mari, but the lion's share of the task
was accomplished by her mom. When the end finally came, Mari was
comfortable and at peace.
Marianne kept a journal, and in the final entry made several weeks before her
death, she reaffirmed the sources of her strength were her mom's love and her
faith in God. Mari remained totally committed to just these two all the days of her
life. She will be sorely missed.
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Eulogy by Mark Dessert (used with permission)
What we have learned
today
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There are two types of neurofibromatoses, classified as NF1 and
NF2. Other or variant types of the neurofibromatoses may exist,
but are not yet identified.
Genetic disorder with the 17 chromosome for NF1, and the 22
chromosome for NF2.
NF1 is more common and occurs with 1 in 4000 individuals in
the United States.
Most cases, NF1 will allow patients to live normal productive
lives.
No complete cure, but able to shrink some of the tumors that
form or to help deformities of the bones.
NF2 is less common and occurs with 1 in every 40,000 people in
the United States.
What we have learned
today? (continued)
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NF2 occurs bilaterally (occurring on both sides of the body) on
the eighth cranial nerve.
NF2 can be life threatening if it effected vital structures such as
the brainstem.
No cure of NF2, but able to remove the tumors. Can result in
loss of hearing
Symptoms for both occur in teenage years.
NF is inherited as a dominant disorder, which means the child
has a 50% chance of inheriting the defective gene.
Happens with all races, sexes, and ethnic groups.
Bibliography
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Neurosurgery. Internet WWW page at
URL:http://neurosurgery.mgh.harvard.edu/NFR/
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Neurofibromatosis. Internet WWW page at
URL:http://www.ninds.nih.gov/HEALINFO/DISORDER/NEUROFI
B/NEUROFIB.HTM