What is the recent treatment for neurofibromatosis in kids?

Question

Hi doctor,

My son was diagnosed with neurofibromatosis type 1 when he was 4 years old after finding nine cafe-au-lait spots and freckling in his armpits. Recently, the neurofibromas on his torso have increased from about 12 to over 30 in just eight months, and some are getting larger and more painful, especially when his backpack rubs against them. His yearly MRI showed a plexiform neurofibroma near his spine that had grown 2.8 centimetres since the last scan. His pediatrician seemed concerned and referred us to you. My son's been having headaches three to four times weekly that wake him from sleep, and his grades dropped from A to C this semester.

The school counsellor mentioned possible learning disabilities related to neurofibromatosis type 1, but did not explain what that meant. I was terrified after reading online about the malignant transformation of these tumors. He has also grown 4 inches in 10 months, which a geneticist says could be related to his condition. The disfigurement from visible neurofibromas is affecting his social life. He refuses to go swimming or change for gym class. What treatments exist for rapidly growing neurofibromas? Should we be worried about the headaches being related to NF1? Is there anything to slow the progression of neurofibromatosis type 1 as he goes through puberty?

Thanks.

Answer 1

Hi,

Welcome to icliniq.com.

I can understand your concern.

Here is what you should know about your son’s condition:

1. About headaches and learning issues: Frequent headaches, especially those that wake him from sleep, should always be evaluated; they can be linked to NF1-related brain tumors (like optic gliomas) or pressure from plexiform tumors. The drop in school performance may be from NF1-related learning disabilities (affects 30 to 60 % of kids with NF1), especially in attention, executive function, or visual processing. A full neuropsychological assessment can help tailor school support and accommodations.

2. Rapid growth and puberty: Puberty can accelerate neurofibroma growth due to hormonal changes. The increase in size, pain, and number of tumors, especially if rapid, warrants monitoring and sometimes imaging. Plexiform neurofibromas can grow and may rarely become cancerous, so monitoring their size and symptoms is critical.

3. Treatments available: For painful or fast-growing tumors:

Selumetinib (Koselugo) is now FDA (Food and Drug Administration)-approved for children with inoperable plexiform neurofibromas—it can help shrink or stabilize them. Surgery may be an option for isolated, painful, or disfiguring tumors—but not for widespread ones. Pain management and supportive care (like soft backpacks) can also help.

4. Slowing progression: Unfortunately, there is no cure or proven way to stop NF1 progression. However, early intervention, monitoring, and symptom-based treatments can greatly improve quality of life. Regular follow-ups with a multidisciplinary NF1 clinic (neurology, genetics, psychology, orthopedics, dermatology) are ideal.

5. Emotional and social support: Visible neurofibromas often affect self-esteem in teens. Consider:

Psychological counselling for body image and coping.
Connecting with NF1 support groups or teen mentors who live with the condition.
School flexibility around gym class or uniforms to reduce embarrassment.

I hope this information will help you.

Thanks.