The Washington University Neurofibromatosis (NF) Center, along with our colleagues in Team NF, are excited to provide this informational feature for our families. iNFocus is designed to update our families about advances in NF research and clinical practice, and to address commonly asked questions about NF1 and NF2.
Each month we post a new question and answer on the iNFocus page. We welcome your feedback and suggestions for future themes and questions.
Please contact Alicia Vallorani at email@example.com to submit your ideas for future themes or questions.
Should I have genetic testing?
There are two common reasons we obtain genetic testing. First, we sometimes see an older child in whom the diagnosis of NF1 is not certain. In these situations, we may obtain genetic testing to confirm the diagnosis of NF1. Second, there are situations when we might obtain genetic testing to assist couples in family planning. It should be appreciated that genetic testing is not always covered by insurance. You may wish to discuss the need for genetic testing with your NF specialist.
Do people with NF1 always have cafe-au-lait spots?
While it is possible to have NF1 without cafe-au-lait macules, it is very rare. Cafe-au-lait macules refer to the birthmarks seen in people with NF1, and are the single most common feature of NF1. They are frequently first found in young children and can darken during the summer months when children play outside. As people become adults, cafe-au-lait macules can fade, and may become difficult to see. Some people with NF1 affecting the spine only (spinal neurofibromatosis) may lack cafe-au-lait macules.
Will my child develop normally?
Children with NF1 are at risk for a variety of developmental delays; however, may 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, if any. For this reason, we believe in early and frequent screenings in all areas of development, including gross motor, fine motor, speech and language, social/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 the child and his/her family with education and interventions that supply the highest level of achievement possible.
Is NF life-threatening?
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 sometimes pass away from this cancer.
People with plexiform neurofibromas should promptly 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 with a plexiform neurofibroma. These are signs that the plexiform neurofibroma may have changed into an MPNST.
Can NF progress to a more serious condition?
Individuals with NF1 (or NF2) do not progress from NF1 (or NF2) to another medical condition. While people with NF1 may develop a number of medical problems, these problems are most often related to having NF1, rather than resulting from a second medical condition.
Can my child “outgrow” his or her NF?
Children with NF do not outgrow their NF. Once you are born with NF1, you will have NF1 for your entire life. However, at each age, there are different medical concerns which may need to be addressed by your NF care team. For example, we look for visual problems in children whereas skin neurofibromas are a bigger concern for adults.
Will my child be able to grow-up and have children of his or her own?
Most children with NF1 grow up, get married, and have families of their own. In some situations, adults with NF1 decide not have children, but this is a personal decision, rather than a direct result of having NF1. We recommend that you discuss this issue with your NF care team.
Do adults with NF1 have problems with bone density?
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 the low bone density and prevented fractures. You may wish to talk with your internist about this potential problem.
Can you “catch” NF?
NF1 and NF2 are not contagious illnesses. They are not passed from person to person like a cold or virus. Instead, NF1 and NF2 are genetic conditions which begin at birth.
Are people with NF1 shorter than average?
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 also 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 reason for reduced height and, when appropriate, find personalized treatments for children with NF1 and short stature.
No one in my family has NF1, but my child does. Why is that?
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 very 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 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. In every situation, parents are carefully examined for subtle features of NF1 when they first bring their child to the NF specialist.
Why isn’t my child’s NF1 the same as mine?
Everybody with NF1 is different, even if they come from the same family. This variation makes it difficult to predict what types of problems any 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 a registry (NF1 Patient Registry Initiative) and DNA bank (NF1 Genome Project) to discover ways to provide this predictive information to families. Your participation in these exciting studies may one day enable NF specialists to predict what types of medical problems are likely to arise in people affected with NF1. You can learn more about the NF1 Patient Registry Initiative and NF1 Genome Project on the Washington University NF Center website.