Being diagnosed with a medical condition you’ve probably never heard of can be scary, but the best way to combat those fears is to educate yourself. These NF-related FAQs are designed to assist you in better understanding NF1 and NF2.

How do people get NF?

Question: Can you “catch” NF?
Answer: NF1 and NF2 are not contagious illnesses. They are not passed from person to person like a cold or a virus. Instead, NF1 and NF2 are genetic conditions which begin at birth.

Question: No one in my family has NF1, but my child does. Why is that?
Answer: Half of the time, NF1 can arise for the first time in a child who does not have parents with NF1. This is referred to as a “new mutation” or “spontaneous mutation.” It means that a change in the NF1 gene occurred in the egg or sperm or during early fetal development to result in a child with NF1. There is nothing that the parents did to make this happen. Scientists do not know why these changes (or mutations) arise spontaneously in children of people without NF1, but believe that it is a random or chance event. For this reason, it is highly unlikely for two children with NF1 to be born to parents who do not themselves carry the diagnosis of NF1. For this reason, parents are carefully examined for subtle features of NF1 when they first bring their child to the NF specialist.

Question: If a person does not have features of NF1 in childhood, can he or she later develop features and be diagnosed in adolescence or adulthood?
Answer: It is very unusual to develop features of NF1 for the first time as an adult. As children mature, new features of NF1 may be found. These features include freckling in the armpits and groin (diaper) region, small lumps and bumps (benign neurofibromas), larger plexiform neurofibromas and colored spots on a part of the eye called the iris (Lisch nodules). For this reason, all children in whom the diagnosis of NF1 is suspected should be examined by a doctor or nurse experienced in NF1. Please also see What is Neurofibromatosis Type 1 (NF1)?

Question: Why isn’t my child’s NF1 the same as mine?
Answer: Everybody with NF1 is different, even if they come from the same family. This variation makes it difficult to predict what types of problems, if any, a particular person with NF1 will face. One of the challenges for NF specialists is providing helpful information to families about what to expect as their child grows. As part of an international effort, researchers at the Washington University NF Center have developed the NF1 Patient Registry Initiative (NPRI) and the NF1 Genome Project (NF1GP) to discover ways to provide this predictive information to families.

Question: Will NF1 turn into NF2?
Answer: Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are very different medical conditions. People with NF1 typically have café-au-lait macules, skinfold freckling and Lisch nodules, whereas these features are far less common or absent in people with NF2. In addition, the types of tumors people with NF1 can develop are distinct from those encountered in people with NF2. For example, people with NF1 may develop optic gliomas (brain tumors affecting the nerve that carries vision from the eye to the brain), whereas people with NF2 may develop meningiomas (brain tumors arising from the lining of the brain) or vestibular schwannomas (brain tumors affecting the nerves that carry hearing and balance). For this reason, people with NF1 do not progress to NF2, and people with NF2 do not develop NF1. They are completely different conditions.

Question: Can my child “outgrow” his or her NF?
Answer: Children with NF do not outgrow their NF. Once you are born with NF1 or NF2, you will have NF1 or NF2 for your entire life.

What problems might develop in people with NF1?

Question: How can you tell if you have NF1?
Answer: Your NF specialist will perform a detailed examination to determine whether you or your child has NF1. The diagnosis of NF1 is established based on a list of very specific features that include café-au-lait macules, skinfold freckling, Lisch nodules, neurofibromas, optic glioma, bone abnormalities and the presence of a family member with NF1. If your NF specialist finds two or more of these features, the diagnosis of NF1 will be given.

Questions about skin

Question: Do people with NF1 always have café-au-lait spots?
Answer: While it is possible to have NF1 without café-au-lait macules, it is very rare. Café-au-lait macules refer to the birthmarks seen in people with NF1, and are the single most common feature of the condition. They are frequently first found in young children and can darken during the summer months when children play outside. As people become adults, café-au-lait macules can fade and may become difficult to see. Some people with NF1 that only affects the spine (spinal neurofibromatosis) may lack café-au-lait macules.

Question: Does the shape and color of the café-au-lait macules matter?
Answer: Café-au-lait macules are typically a bit darker than the surrounding skin. In Caucasians, they will appear as lightly colored spots, while in African Americans, they will be darker. Very darkly colored birthmarks may not be café-au-lait macules. Your NF specialist will know whether you should see a dermatologist to have these birthmarks evaluated further.

The shape of the café-au-lait macules may also be important. In a study by Dr. Kara Nunley at the Washington University NF Center, typical birthmarks with smooth borders were more often seen in children with NF1. Whenever a child has several café-au-lait macules in infancy or childhood, they should be seen by a specialist experienced in the care of people with NF1.

Question: Will my spots turn into tumors?
Answer: Café-au-lait macules are areas of increased skin coloration. Unlike other dark skin patches in adults (called nevi), these do not turn into tumors. If you or your child has a dark, raised patch, you should see a dermatologist.

Question: Can a child have skinfold freckling and not have NF1?
Answer: It is highly unusual for a child to have skinfold freckling (under the arms or along the bikini folds) and not have NF1; however, it is also easy to mistake something completely unrelated for skinfold freckling. If you think your child has skinfold freckling, you should have him or her examined by an NF specialist.

Questions about development

Question: Will my child develop normally?
Answer: Children with NF1 are at risk for a variety of developmental delays; however, some children with NF1 experience no delays at all. At this time, we do not have an accurate way of determining which child will encounter a delay. For this reason, we believe in early and frequent screenings in all areas of development including gross motor, fine motor, speech and language, social and emotional, self-help, attention and academics. Our best approach to addressing a delay, should it arise, is early intervention. We want specialists involved who can provide you with education and interventions that supply the highest level of achievement possible.

Question: Are people with NF1 shorter than average?
Answer: There are a number of reasons that people with NF1 may be shorter than their peers. First, children born to parents who are short are typically shorter than average. This is the most common reason for short stature. Second, curvature of the spine (scoliosis) can cause a person to be shorter. Third, some children with NF1 who are short may have lower levels of brain hormones that control growth. When your child is seen in the NF Clinical Program at St. Louis Children’s Hospital, you will be asked to participate in a study to determine the reasons for short stature in children with NF1. What we learn from this study may help us determine the reasons for reduced height and, when appropriate, find personalized treatment for children with NF1 and short stature.

Question: Do adults with NF1 have problems with bone density?
Answer: Yes. Recent studies have shown that it is not uncommon for adults with NF1 to have low bone mineral densities and low vitamin D levels. In some of these adults, supplementation with calcium and vitamin D (cholecalciferol) improved low bone density and prevented fractures. You may wish to talk with your internist or NF specialist about this potential problem.

Question: Do people with NF1 have lower IQs than the general population?
Answer: IQ or Intelligence Quotient is a measure of a person’s cognitive ability and can be influenced by a number of medical and psychological factors. There is a large range of IQ scores in children with NF1; however, researchers have found that children with NF1 have lower IQ scores on average than their unaffected brothers and sisters. While true mental retardation in children with NF1 is rare, specific learning deficits, attention problems and motor skill delays are common in children with NF1. Each of these problems can affect performance on the IQ test and result in lower than average IQ scores.

Questions about severity

Question: Can NF progress to a more serious condition?
Answer: Individuals with NF1 or NF2 do not progress from NF1 or NF2 to another medical condition. While people with NF1 or NF2 may develop a number of medical problems, these problems are most often related to having NF rather than resulting from a second medical condition.

Question: Is NF1 life-threatening?
Answer: In most people, NF1 is not a life-threatening condition; however, there are rare situations where medical problems arising in people with NF1 can be serious. For example, people with NF1 and a plexiform neurofibroma may develop an uncommon cancer called a malignant peripheral nerve sheath tumor (MPNST). Although MPNSTs are rare, people who have an MPNST frequently pass away from it.

People with a plexiform neurofibroma should consult an NF1 specialist if they experience continued pain in their tumor (not associated with it being hit or bumped), rapid tumor growth, hardening of their tumor, or weakness or numbness in an arm or leg containing a plexiform neurofibroma. These are signs that the plexiform neurofibroma may have changed into an MPNST.

How can I help my child overcome challenges?

Question: How can I use technology to help my child overcome delays?
Answer: Technology can be particularly helpful with education, productivity and communication. Students with visual motor, visual perceptual, fine motor and executive functioning difficulties can benefit from the use of assistive technology to allow them increased access and efficiency to complete classroom work. Technology can help prevent motor skills from negatively impacting their academic performance.

While technology is very exciting, its role can present some challenges. Now more than ever, parents have to make the effort to ensure that ample sensory and motor opportunities are available and integrated into their children’s daily lives. In addition, they must find a balance between productive, educational technology and fun, gaming technology. To learn more about how you can help your child using available technologies, please visit Apps for NF1.

Question: Should my child have an IEP?
Answer: An IEP, or Individualized Educational Plan, is provided to a child who meets specific legal criteria indicating that they need specialized instruction, services such as speech or physical therapy, and/or classroom accommodations/modifications in order to receive a free and appropriate public education. Your child should have an IEP if

  1. He or she has learning, sensory, emotional/behavioral, and/or physical problems that prevent learning in the same manner as his or her peers.
  2. He or she meets the legal criteria described above.

IEPs can provide a wide range of services. For example, children with significant learning problems might spend a large portion of their school day in a special education classroom receiving specialized instruction in core academic areas, but join their peers for gym or art. Other children might receive specialized instruction in only one academic area, such as math, and this service may be provided as a service within his or her general education classroom. Other children might need a service such as speech therapy or physical therapy to participate fully in their education, while receiving all of their instruction in the general education classroom.

If your child qualifies for an IEP, you and a team of professionals will craft a plan that is individualized to your child’s needs and provides those services that will best allow your child to benefit from his or her curriculum.

What does the future hold for people with NF?

Question: How will the management of people with NF change in the future?
Answer: Over the past twenty years since the identification of the NF1 and NF2 genes, there has been an explosion in our understanding of these conditions. In this respect, several major changes have ushered in a new era in the treatment of individuals with NF-related problems.

First, basic laboratory research has led to the discovery of new molecular targets for logical drug design specific to the medical problems encountered in people with NF1 and NF2. Second, accurate small-animal models of NF-related medical problems, including optic gliomas, neurofibromas and learning disabilities have been developed. These “preclinical” models allow scientists to test promising drugs in mice prior to human clinical studies. Third, the United States Department of Defense has funded the NF Clinical Trials Consortium to enable a consortium of NF specialists to evaluate new treatments in individuals with NF in the most efficient manner.