About CHoR's neurofibromatosis program
Our multidisciplinary team works together to diagnose, treat and support patients with neurofibromatosis types 1 and 2. In addition to providing high-quality multispecialty medical care for this genetic condition, we have a compassionate psychosocial team that supports our patients’ emotional and educational needs.
NF occurs in one in every 3,000 people and affects millions worldwide often with multisystem involvement, which is why finding a team with providers from multiple specialties who are familiar with this condition is important to ensure your child gets the care they need.
Why choose CHoR for NF care?
- We have the first and only Pediatric NF clinic in Virginia
- We are members of the Children’s Tumor Foundation’s NF clinic network
- Our comprehensive care includes a core team made up of geneticist, oncologist, neurologist, otolarygologist and genetic counselor. Additional pediatric specialists are consulted depending on the specific needs of your child.
- By providing social, emotional and mental health support – we treat the whole child and family – not just the illness.
Conditions we treat
Diagnosing and treating neurofibromatosis
How is it diagnosed?
Only a trained health care professional who understands this complex condition can make a clinical diagnosis of NF.
Diagnosing NF1
A diagnosis of NF1 can be given if an individual has two or more of the following manifestations::
- Six or more café-au-lait-macules*(brown skin spots)
- Greater than 5mm in pre-pubertal children
- Greater than 15mm in post-pubertal individuals
- Freckling in axilla (armpit) or groin*
- Two or more neurofibroma tumors of any type, or one plexiform neurofibroma
- Two or more Lisch nodules or two or more choroidal abnormalities (problems with the vascular layer of the eye (the choroid)
- Optic pathway glioma (tumor of the visual pathway)
- A distinctive osseous lesion such as: sphenoid (a bone near the base of the cranium behind the eye) dysplasia, anterolateral bowing of tibia (tibial dysplasia, a curving of a bone in the leg) or pseudarthrosis of a long bone (a condition that occurs when the bones in the leg do not heal correctly)
- A pathogenic NF1 gene variant**
- A parent with NF1 by the above criteria
*At least one of the two pigmentary findings (café-au-lait macules or freckling) should be bilateral.
Genetic testing
Genetic testing can often help diagnose those with NF. By using a blood test, geneticists can identify any gene change in an affected parent and determine if your child inherited it.
Testing can be done if a diagnosis is uncertain and can help diagnose a child who may have not developed enough features to make a clinical diagnosis.
Genetic testing may also be informative for other family members or for deciding about reproductive options. A genetic counselor can help guide your personal decision to have genetic testing.
Receiving a diagnosis of NF can be overwhelming – but you are not alone.
Newly diagnosed with NF? Access these educational resources
Treatment and care
We will work together to create a unique treatment plan and provide coordinated care throughout childhood – until your child turns 22. We can help transition your child’s care to an adult NF provider when the time is right.
Treatment options might include:
- A medicine taken by mouth called Kesolugo, which is sometime referred as MEK inhibitor (MEKi), in plexiform neurofibroma
- ENT and plastic surgeons for resecting plexiform neurofibroma in the face and neck area
- Orthopedic care to correct spinal curve (scoliosis) and other bone anomalies
- Neurosurgery for brain and spine tumors
- Neuropsychology testing for early diagnosis and intervention of ADHD and learning disability (LD) related issues
Long-term follow-up care is managed through clinic visits at least once a year. Some patients with more advanced symptoms might need to be seen on a more regular basis.
Multispecialty care team
Our neurofibromatosis program includes pediatric specialists from many disciplines. They work together as a team to provide comprehensive, coordinated care in the areas of:
Treatment for patients diagnosed with NF extends beyond medical care. Our team includes education specialists, emotional and mental support and more. All with one goal in mind: to give your child the best possible care.
