There is a 50% chance of being born with neurofibromatosis, if a parent has acquired it in his or her lifetime. There are two types of neurofibromatosis, type 1, and type 2. Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. Most people don’t hear about it, because it’s not a well known disease. Despite the fact that it is a little known disease neurofibromatosis is pervasive and often debilitating. NF is a little known neurological disease that has many identities.
The disease may be known by many different names: neurofibromatosis 1 or NF1, Peripheral neurofibromatosis, Recklinghausen Nerve Disease, Von Recklinghausen Disease ( Neurofibromatosis type 1). Because it is known by so many different names its symptoms and hallmarks are often identified with other diseases. Because there are other diseases it makes it hard for doctors to NF presents itself in two main ways. The first and most common presentation is NF1. A diagnosis of NF1 happens one of two ways.
The disease can be diagnosed at birth with the presentation of cafe au lait spots which are spots on the skin that are darker than the skin itself but lighter than a mole. In order for the patient to have NF1 he must have at least five or more cafe au lait spots that are at least five millimeters in diameter ( rarediseases. org ). Once the diagnosis is made at birth, there is not a lot else that happens. Because it is a little known and discussed disease parents are sent home with a diagnosis and little else. However, many things can develop from the simple identification of NF1.
This is when the second identification of NF1 happens. During adolescence the diagnosis of NF1 happens because of skin manifestations that develop with the patient. There can be freckling in the armpits or groin area and soft bumps under or on skin(rare disease. org). The bumps are known as neurofibromas and they are 3 types of them:cutaneous, subcutaneous, and plexiform. Cutaneous lesions and subcutaneous lesions may be brown, pink, or skin color and may be soft or firm to the touch. The cutaneous and subcutaneous neurofibromas are often benign and harmless.
However, plexiform neurofibromas are a different story. Plexiform are not fixed and can be thick and irregular. “They can cause disfigurement by entwining important supportive structures. The plexiform subtype is specific for type 1 neurofibromatosis”( Helm). Manifestation of these signs as a patient ages provides a clue that he has NF1. Unfortunately, the differents types of lesions can be severely disfiguring. Boswell is a lady who has neurofibromas head to toe on the body. They are very noticeable and unsightly. However, the skin lesions weren’t always this way.
Boswell inherited NF from her mother, who had a less visible form of the disorder. In her late 20’s is when Boswell’s condition got worse. Often times puberty and pregnancy can exacerbate the situation. Boswell’s lesions have become so ugly that she is unable to hold down a job that keeps her in the public eye. People are too unnerved by her appearance despite her positive attitude. Boswell said “ I don’t want to have this appearance and an ugly attitude. She maintains positivity as much as she can. Boswell lives a pretty normal live despite the fact that she has to sit out on some of her favorite activities.
Other people’s response to her condition makes her stay inside most of time. Boswell has even resorted to creating a GoFundMe account to help cover some of her unexpected costs because she can’t do it any other way. Boswell’s story is just one of many. Even though the presentation of NF1 is not harmful to her body or affecting her body systems, the manifestation of the lesions has had a significant impact on her life (Harwood). The lesions have been debilitating in terms of holding and keeping a job. *** There are many problems that can occur with NF1.
Eye tumors which grow on the iris of the eye are called Lisch Nodules. Brain tumors, Adrenal Gland Tumors, Muscle tumors are some of the types of tumors the patient can get. NF1 include some features like: High Blood pressure, learning disabilities which can occur in 50% of people with NF1, childhood leukemia, bone changes, scoliosis, and short stature. All these potential issues with NF1 are scary because a patient doesn’t know what will manifest or what will happen to his body if the features occur. Many of the complications can be severe and even life threatening.
What is even more unnerving is the fact that NF1 is much more common than people realize. NF1 is found in one out of every 3,000 people. It is one of the most common genetic conditions despite the fact that it is not often discussed or well publicized. NF1 is often inherited, but fifty percent of the people that contract it don’t have a parent with the gene. This fact makes the condition disheartening. It can be unexpectedly contracted and then passed on to one’s family, and once it is contracted the manifestations can be minor or major.
It is a “wait and see” game for those with NF1. Even though NF1 is quite serious, another way that NF presents can be very serious: NF2. NF2 is a disorder were non cancerous tumors grow in the nervous system. The most common tumor associated with NF2 is vestibular schwannomas. They develop growths along the nerve that carries information from the inner ear to the brain. The tumors can also develop other places within the body. NF2 usually appears during a person’s early twenties or adolescence, but can appear at any time. One of the manifestations of the tumors is hearing loss.
It is an early frequent symptom of vestibular schwannomas. This can include ringing in the ears and problems with balance. The tumors can also grow in other places of the body. “Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain”(“Neurofibromatosis type 2” ). Patients with NF2 can also develop cataracts. Although hearing loss and cataracts are serious, the actual risk of cancer for NF2 patients is low. Yet, the seriousness of the impact on a patient’s life can not be overstated.
There are other types of tumors that can affect the central nervous system and can be very invasive for the individual with NF2. These tumors are called meningiomas. They are slow-growing tumors which usually present on the surface of the brain. Symptoms may occur if they are pressing along the spinal cord or brain. Meningiomas can cause seizures. The seizures can be relatively small such as twitching, jerks, and spasms. They can also be more intense such as a Grand Mal seizure which can include loss of consciousness and body tone and loss of control of bodily functions.
Patients may endure sensory loss, and severe headaches, and personality or memory changes ( Cancer. net ). Because NF2 can have such serious manifestations, it is considered more serious than NF1. However, both versions of the disease can have a serious impact on an individual’s life. NF2 is less common than NF1. It is presents one in every 40,000 people. Because it is less common than NF1 it is not often diagnosed ( cancer. net ). When a family member is diagnosed with NF2 it can be troublesome because just like NF1 there is no certain way to prepare for what could be ahead as far as symptoms.
One of the frustrating situations with NF is the lack of certainty about symptoms. Some of the symptoms are not as dangerous as others, while some may be life threatening and require radiation treatment. With a lack of symptoms when a patient is diagnosed with NF1 or NF2 the doctor can’t prepare for all eventualities, so the doctor may not be able to tell the patient or the parent anything concrete about the disease. With little information regarding symptoms the patient doesn’t know what to expect when he ages. It can be daunting to consider the myriad of possibilities.
Often a parent leaves the doctor’s office with little information and trepidation about the disease. Despite the fact that neurofibromatosis is not well known it is a common disease. NF presents itself in two ways NF1 and NF2. Both presentations have symptoms that can be potentially debilitating or even life threatening. NF1 is caused by mutation of the gene it can be passed by parent to child, however in 50% of the cases the gene random mutates causing a disease. Currently there is no known cure; there are only treatments for various symptoms. The impact the NF1 can have on individual life deserves to be shared and publicized
