Neurofibromatosis

This article relates to Gemini

Nature, in all its astounding wisdom, has graced the planet, specifically human beings, with millions of options when it comes to heritable genetic conditions. It is always exciting for expectant parents to anticipate whether their offspring will be the gleeful recipient of Mum's freckles or great-granddad's aquiline profile. On balance is the potential to pass on the not-so-delightful options such as Dad's thirst for the hard stuff or worse, a condition such as neurofibromatosis.

Neurofibromatosis (NF) causes excessive unchecked tissue growth around a body's nerves. It primarily affects the brain, spine, nerves and skin but can affect other areas of the body as well. This unchecked tissue growth can result in benign tumors that, depending on their location and size, can be either painlessly tolerated or surgically removed. It is a genetic condition that is usually caused by a mutation of the NF1* gene in chromosome 17. About half of cases are inherited - if one parent has the mutated gene it will be passed on to the next generation; the other half of cases appear to be caused by spontaneous mutation of the gene within the first few months of life. Its symptoms run the gamut in terms of severity, ranging from minor skin discolorations or learning disabilities such as ADHD, all the way to seizures and (primarily benign) brain tumors.

Neurofibromatosis affects 1 in 2,500-3,000 people worldwide of all races and national origins, both male and female. Since it can be inherited, there is a, still rather unreliable, prenatal test for it. However, children who have NF are generally diagnosed between the ages of three and sixteen. The earliest signs of NF1 are café au lait-colored blotches on the body, although not the face. Another sign that develops later, in prepubescent children, is freckling in the underarm or groin area. Tumors - less than 5% become malignant - either on or under the skin are yet another symptom. About half of children with NF1 will have clinical learning disabilities and will require extra scholastic support. More serious problems such as severe headaches, skeletal pain, scoliosis and seizures can develop as well. Even though less than half of children with NF1 will have seizures, it is nonetheless important to carefully monitor their medical condition.

There is no known cure. There is only mindful care and, if necessary, specialized medical attention so that the vast majority of individuals with NF1 can live normal, active lives. Indeed, if a child grows to adulthood having suffered only minimal signs chances are excellent s/he will never develop any additional symptoms. For more information and advocacy worldwide check the NF Network website.



*There are two other types of neurofibromatosis: NF2, which is quite rare and considerably more debilitating, and Schwannomatosis, which consists of benign tumors on the outside of nerves and tends to affect people over the age of 30.

Filed under Medicine, Science and Tech

This "beyond the book article" relates to Gemini. It originally ran in April 2014 and has been updated for the March 2015 paperback edition. Go to magazine.

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