Neurofibromatosis, I knew he was thinking it and struggling to find a way to tell me. I watched as the doctor counted and then recounted the large brown spots on my almost 1 year old son. He left the exam room, spoke briefly to his fellow doctor and then returned with a large medical book. He thumbed through the book but remained silent. I sat quietly for a few minutes and then decided to let him off the hook. "I know, he has Neurofibromatosis".
The doctor looked at me with both relief and concern on his face. "You know?" "Yes", I replied "I have it too and I am pretty sure my daughter has it as well". My daughter, almost 3 had just begun to show the classic café-au-lait spots. The doctor then remarked how he wasn't sure of how to tell me of the diagnosis. He was searching for a way to explain a disorder that is hard to explain. A disorder that is variable and unpredictable, where often the only photos available show the most extreme cases.
Neurofibromatosis is a genetic disorder which causes tumor growth in the tissues that surround nerves. These tumors are called Neurofibromas. It is a variable, unpredictable and progressive disorder. This means that the degree to which an individual is affected cannot be predicted and over time, symptoms may increase. It may be inherited, passed on from parent to child or it may be spontaneous gene mutation and occur in a child whose parents do not have Neurofibromatosis. About one half are a result of spontaneous mutations. Neurofibromatosis is often referred to as NF.
There is no cure for Neurofibromatosis. It does not go away. Quite often spots will darken with exposure to sun. New tumors can grow and new problems can arise at any time. There are various medical treatments to treat some of the manifestations of NF but there is no cure. In addition to the pediatrician or family doctor your child will probably need to see at least four specialists at least once a year. They may need more frequent visits to the specialists.
Do not be scared by the photos you see or the manifestations (symptoms) you read about. NF is variable. Having NF does not mean an individual will not lead a normal, fulfilling and healthy life. It does mean you will probably need to see a few more doctors. Be prepared to read and learn about Neurofibromatosis to be more informed and to ensure that you or your child receives the proper monitoring, treatment and care.
As with any chronic disorder or medical
condition, the diagnosis of NF can be
overwhelming, especially when it concerns your child. Depression and
the feelings of shock, fear and anger are compounded by the
uncertainty of the disorder. Not knowing exactly what the
manifestations will be is difficult. As with any medical condition a
support group can be very helpful. It is also helpful to learn as
much as you can about this neurological disorder and to develop a
strong relationship with your doctors. The more you understand the
better you are able to cope. An excellent book on Neurofibromatosis
is Neurofibromatosis: A Handbook For Patients, Families, And Health Care
There are three types of Neurofibromatosis Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis. Neurofibromatosis Type 1 and Type 2 are frequently referred to as NF1 and NF2.
Neurofibromatosis Type 1 is caused by a gene on chromosome 17. The onset of NF1 is during early childhood. The major symptoms and manifestations include Cafe-au-lait spots, Neurofibromas, Optic gliomas, axilliary freckling (freckles in underarm and groin regions) large head and short stature. Scoliosis is also quite common in people with NF1. Other bone defects involving skull and limb are possible. They are usually present at birth or develop before age 5 or 6. One such manifestation is the absence of the orbital wall. Another manifestation involves the lower leg. The bones below the knee (the fibula or tibia) may be bowed or thinner than normal making it more prone to fractures and preventative treatment may be needed. Approximately 50% of those with NF1 have learning disabilities. It is important to realize that learning disabilities can be overcome. A learning disability is not indicative of low intelligence, it is only a difference between ability and performance. NF1 occurs in about 1 in 3,000 births and is the most common form of NF. NF1 is unpredictable and variable, each person will affected differently. Most cases of NF1 are mild to moderate.
Neurofibromatosis Type 2 is caused by a gene on chromosome 22 and it's onset is generally early adulthood. The main manifestations of NF2 are hearing loss (caused by auditory tumors), Schwannomas, and Meningiomas. It's occurrence is about 1 in 40,000 births. Schwannomatosis is the most recent classification of the Neurofibromatosis disorders and is also the rarest. It is believed to be caused by a gene also on chromosome 22. The main manifestation are Schwannomas, benign tumors that growth on the myelin sheath that surrounds nerves. These tumors can cause pain. The Schwannomas may be isolated to one part of the body or may be spread out.
Over the past 20 years there have been major advances in the understanding of NF. Due to the dedication and hard work of researchers, doctors and individuals with NF much has been learned. In spite of this you will sometimes find medical personnel who are not as informed as you would like. Often times a parent whose child has NF or the patient with NF has to explain NF. If NF affects you or someone in your family learn as much as you can about the disorder. This will help to ensure you receive the proper attention and treatment.
Treatment for Neurofibromatosis involves monitoring of the manifestations. Painful neurofibromas or those that interfere with a person's quality of life may require surgery. Since neurofibromas are not malignant removal is not necessary unless desired. Surgery is often done on an out patient basis. Scoliosis and bowing of legs may require braces. Larger plexiform neurofibromas can develop and your doctor can suggest appropriate treatment. Many cases of NF1 are mild to moderate and besides monitoring and visiting a few extra doctors no extra treatment may be necessary. It bears repeating that NF is highly variable and affects each individual differently. Many with NF will need no special treatment and lead completely normal lives
We know everyone is affected differently and no one can predict it's severity. We repeat saying that because it is important to remember. It is very normal to be scared with a diagnosis of NF because you often only hear of the extreme cases. Seek out support to deal with your emotions. Find support thru your doctor, local NF clinic, online communities and trained counselors. Please visit our Parent Message Board where everyone is welcome. There are at least a few parents there who not only have children with NF, they also have NF1. One last important reminder. With the high incidence of learning disorders and developmental issues it is important for a parent to be proactive. Seek evaluations, therapy and treatment as needed. Contact Early Intervention thru your state agencies and the public school system. Generally, children under the age of 3 will be covered through Early Intervention and older children (even preschool) covered through public school system. Your child has the right to receive therapy including physical therapy, speech therapy, occupational therapy.
Just as support is important for you remember that children faced with challenges may need help with their self image and self esteem. Any child with special needs should be reminded that they are also a valuable part of a family and society. See our section on Self Esteem in Children for suggestions on helping your child develop a positive self esteem.
To help your child feel good about themselves encourage them to develop their strengths and other talents. Reading, writing and music are all wonderful ways for any child to express themselves and excel. Please see Gifts for Children with NF for other suggestions.
As mentioned earlier it is best to learn as much as you can about NF. This section of our site is meant to be a starting point in your journey with NF. As you read and learn remember it is a variable disorder, no two people will be affected in the same way. Some exhibit only minor skin manifestations, others will have more severe manifestations. Many adults after hearing their child has NF are surprised to find that they have it also. Other than "birthmarks" they have been problem free.