Hard to say NEURO-FI-BRO-MA-TOS-IS & I can tell you it is even harder to live with.
What You Should Know About Neurofibromatosis (NF1)
NF1: Symptoms, Treatment and Facts
As knowledge and treatment of NF1 is still evolving, it is not always diagnosed correctly. Early detection and intervention is crucial as it can help manage your condition or that of a loved one more effectively. NF4SickKids attempts to raise awareness (and funds for research) in the hope that a better understanding of this form of neurofibromatosis might reduce the anxiety and stress associated with dealing with this genetic disorder.
What is NF1?Neurofibromatosis (NF) encompasses two distinct genetic disorders of the nervous system, NF1 and NF2. Together, these two genetic disorders affect more than 100,000 Americans. Typically hereditary illnesses, they usually result in tumours involving nerves anywhere in the body. In some cases however, non-nervous tissue such as bone and skin can also be affected. NF1 is the more common type occurring in about 1 in 4,000 individuals in the United States.
Myth vs. Fact
- NF1 is not particular to any ethnic group: It affects people of both genders and any ethnicity
- NF1 is not only inherited: Although many affected persons inherit the disorder, between 30 and 50% 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.
- Not all individuals with NF1 will pass it on to their children: A parent with NF has a 50% chance of passing on the disorder to his or her child.
- NF1 is not limited to the outer nerves: Previously, NF1 was known as peripheral neurofibromatosis (or von Recklinghausen's neurofibromatosis) because some of the symptoms—skin spots and tumours—seemed to be limited to the outer nerves, or peripheral nervous system of the affected person. This name is no longer accurate because central nervous system tumours are now known to occur in NF1.
- Having café-au-lait spots does not mean you have NF1: Many people who do not have NF have a few café-au-lait spots. But if a young child has five or more, at least ˝ inch in size (roughly the size of a dime), a doctor will look for other clues that may indicate the presence of NF.
- Symptoms and severity of NF1 vary: Some patients with a given NF1 mutation may develop a severely debilitating form while others with the same mutation have only mild symptoms and can live normal and productive lives. In fact symptoms and severity of the disorder may vary among members of affected families.
- Having cognitive disabilities is not indicative of lack of intelligence: About half of the individuals afflicted with neurofibromatosis may have some cognitive disabilities but this does not mean they are not intelligent.
- There is no known cure for NF1: Currently treatment revolves around managing and controlling symptoms. Surgical intervention can provide palliative relief.
What are the signs and symptoms of NF1? A physician looks for two or more of the following when diagnosing NF1:
- 5 or more light brown skin spots (café-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
- 2 or more neurofibromas (tumours 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 tumour on the optic nerve (optic glioma)
- Severe scoliosis (curvature of the spine)
- Enlargement or deformation of certain bones other than the spine
- A parent, sibling, or child with NF1
When do NF1 symptoms appear? 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 lives. There are some tumours, however that can cause disfigurement, deafness, blindness, bone deformation, learning disabilities, and in some severe cases, death.
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 tumours; however, there is a chance that the tumours may grow back and in greater numbers. In the rare instances when tumours become malignant (3 to 5% of all cases) treatment may include surgery, radiation, or chemotherapy.
