&

IEEE
BERKSHIRE SECTION

SCIENCE WRITING CONTEST - 2008

NEUROFIBROMATOSIS

Written for:
The Institute of Electrical and Electronics Engineers, Inc.
Berkshire Section

Science Writing Contest

By

RACHEL BIENERT

11KALLISTEHILL
GREAT BARRINGTON, MA 01230 -) I « V

March 7, 2008

MONUMENT MOUNTAIN REGIONAL HIGH SCHOOL

GRADE (10)

_) Lisa Baldwin
 NEIIROFIBROMATOSIS

'ihe world of genetics is a hrano ot'science-that is growing in understanding and

maani:udc \\uhin Lhi- JielJot'idence there arc many branches which include clas.-n;a] swyieuci.

molecular genetic:,, populiukir ^enelics. and gcnomics ^,ghn. Within the field of classical

will focus on one particular genetic disorder, neurofibromatosis. The name neurofibromaliWs is

such as bone and skin , W h U ,,). Neurolibromatosis (NF) has been classified into three groups: NFI,

NF2, and Schwannomalosis. NFI is characterized by neurofibrmnas on or under the skin and

tumors that develop on nerves anywhere in the body. NF2 is characterized by multiple tumors on

the crania] and spinal nerves, and also by lesions in the brain and spinal cord. Schwannomatosis

is similar to NF2 but is accompanied by chronic pain as well as rumors. NFI alTects one in every

3.000 births, Nl-2 one in 25,000 births, and Schwannomatosis one in 40,000 births (rnWT).

1 have NFI, so I want to tell you a bit about this aspect of neuroiibromatosis. NP 1 is an

NF. at least two of the following criteria need lo be present: a family history ot'NF. six or more

cafe-au-lait (light brown) spots on the skin, a presence of pea siied bumps (neurofibromas) on

the skin, large areas on the skin that look swollen ipli-.\iiorm neuriifibromasi. freckling under the

arm or in the groin area, pigmented bumps on the iris of ihs e>e (lisch noduics), skeletal

abnormalities such as the bo wine of the ,c^s or iliinnhig of the shin bone, and a tumor on the

optic nerve (optic glioma) that may interfere with vision. Recently, blood tests have been
 Because NF is a scncric border, iiones best describe what happens. ^ gene is a small

cell; some control what we look like, while others control chemical processes in our bodies. NF

within chromosome 17. Onu; a child Vnov.; rhe> ha\c M . .Ivir chi.drer. :iiivo a 503.b chance of
Thus, a person who has N F I makes IAUI dil'leiem kinds of reproductive cells, one which tarries

m e N F l gene, and anoiher which does mn. It depends on which reproductive cell is part of

conception this will determine whether a child is affected. When a person with NF1 is partnered

with someone who does not have NF1, there are four possible combinations of cells. Two will

produce a child with NF1; two will produce a child without NF1. This is how it happens:

Smjie NF sens Singl*NF

With the advancement of the study of genetics, il is now possible to test an unborn I'elus

forNFl. This testing cannot, however, predict the severity of the NFL Parents can use these test:

to determine the viability of the prejinancy. or. to consider in vilm fertili/alion to fertilize eggs

outside of the body and implant only those .-gg- no: allsvwd with the NF1 gene. These issues, are
 N F i s the mosl common neuioKiti;;;)! diboi'd;! cause;. :•> a sir.aitf gene :„,,.,). NFl occurs

h j i . k ^ i L ' i nd. But recent studies that show NFl is more prevalent in individuals of North African

American descent is significantly lower.

The NFl mortality rate varies as much as ib, prevalence. A study in Sweden followed 70

patients for 12 years. Over this time period, 22 of the 70 patients died. The average age at death

that of people without NFl (roadman). The presence of tumors results in a 3-15% additional risk of

malignant disease ^jmi-

The risks are not the same for all patients. NFl has a wide range of variability and not

every patient experiences the same manifestations. NFl regularK causes disfigurement, sciiliiisis

of the spine, learning diSi-.Liu:lei. iariie IwJ;. hi an b:o,)d pre—ure, optic gliomas (tumors on the

signs for NFl, such as cafe-au-lah spot?, rreekljia. p:e\ilbrm neurofihromas. andncLiroiihron-a-i

on my skin. My case is not as serious as some but requires regular foliow-up such as extensive

annual eye exams to watch far oplic gliomas. I also have brain MRIs to monitor a tumor in my

brain, near the hypo thai am us, that has become inactive.

• 4 of 6
 The scans also monitor two plexiform tumors 1 have on the outside of my head.

Plexiform neurofibromas occur in about !5 percent of people with NF1. Because they grow

around nerves and spread out like threads, plexiform neuroiidramas are difficult to remove. In

cases where the neurofibroma might cause paralysis or other problems, a surgeon may elect to

remove part or all of it. But when removed, they tend to grow back so the decision is a difficult

fourth grade. Once the body reaches puberty, the growth platelets harden and you stop growing.

For me. this meant that 1 had no growth spurt and am shorter than I would normally have been by

about six inches.

NF1 is a disease that affects 1 in 3000 people, many more of which are undiagnoscd.

'[here is no cure for NF1 and it does not get better; it is progressive throughout a person's life. It

isnot recognized by much of the world population in part because there is not yet a famous

spokesperson to act as an advocate. But because it can affect so many parts of the body in so

many different ways, it is being studJed more seriously as part of the search to understand cancer.

that. I did this paper to try lo understand it more myself and to help others understand it as well.

It is my intent to enter the medical profession as I believe I have a compassion and ai

 Works Cited

What is NF?. (n.d.). Feb. 1 8, 2008 --.ir.p-. \

Wight, Dr. B. Course Offerings, (n.d.). Feb. 18, 2008.

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