I like one in every 3,500 people around the world was born with the genetic disorder NF1, which stands for “Neurofibromatosis Type 1.” It affects men and women equally and is seen in every population and race.The disorder, which affects the nervous system, is caused by a genetic mutation. 50% of the time it is inherited, 50% of the time it is due to a spontaneous mutation.

Once you possess the mutated gene, there is a 50% chance of it being passed on to a child, with each pregnancy. 

When diagnosing NF1, physicians look for distinctive physical features, also known as signs or markers. This is not the same as symptoms which are how the medical condition makes an individual feel or act.If an individual is confirmed as possessing two of the following criteria, they are considered to have NF1, as long as no other diagnosis can be made which would explain the markers below:

• Family history of NF1
• Six or more café-au-lait spots : flat pigmented patches of skin, the color of “coffee with milk”
• Neurofibromas : see below
• Axillary freckling : freckling in the armpits or groin (or the undersides of the breasts). These are places where the skin folds and not generally exposed to sun-light.
• Lisch nodules : a benign lesion on the iris of the eye which appear as tan or brown
• Skeletal abnormalities, such as tibial bowing, thinning of the shin bone or scoliosis
• Optic glioma : optic nerve tumor

Neurofibromas:

• Dermal : bump-like tumors that grow on or under the skin. As they grow around nerves, neurofibromas can cause tenderness, pain, and even itching. They usually begin to show up in late childhood or early adolescence and can continue to appear throughout life. There is also anecdotal evidence of there being an increase in their number during pregnancy. An affected individual may wind up with just a few or hundreds. They can appear anywhere, and there is no predicting their spread, however only about one in five people with NF1 will have neurofibromas on the face.
• Plexiform : tumors that spread out, either just under the skin or elsewhere (deeper) in the body. They can result in discomfort or even extreme pain. They can grow anywhere in the central nervous system (brain, spinal column, peripheral nerves, etc.) and can cause numbness or even paralysis.

Other Concerns

High blood pressure, also called hypertension, can be seen in persons with NF1. Rarely, this can be caused by pheochromocytomas, adrenal gland tumors that are usually benign and secrete certain hormones.

Some adults complain of chronic pain. Back pain is sometimes related to neurofibromas involving the spine that are not easily removed with surgery.

Headaches can be a problem for some individuals. Doctors specializing in neurology and/or pain management may have ideas to reduce the frequency and/or intensity of the headaches.

About 50% of people with NF also have learning disabilities.

Some adults with NF1 may have had speech problems in childhood which may persist into adulthood such as : having difficulty in adjusting the rate, volume and pitch (tone) of their speech, or having speech that has a nasal quality.

Itching is also a frequent complaint of people with NF1, though it is not understood why it occurs.

Blessings

Mama Kelly

* While NF is a genetic condition present at conception, I was not diagnosed until I was an adult – already married and a mother of two.

Related Links

Children’s Tumor Foundation

NJ NF Resources

Related Reading

Living with Genetic Disorder: The Impact of Neurofibromatosis 1 – a medical textbook

Thirty Cats – novel w/ main character affected by NF1

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