What are we fighting for?
Live Like Elias Foundation, Incorporated is dedicated to advancing NF1 awareness and pediatric brain tumor research, confronting medical challenges with relentless advocacy and a mission centered on hope.
Understanding Neurofibromatosis Type 1 (NF1)
WHAT IS NF1?
Neurofibromatosis Type 1 (NF1), also known as Von Recklinghausen’s disease, is a genetic that is caused by change in the NF1 gene, which is found on chromosome 17. It can be inherited or spontaneous.
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Although considered a rare disease, NF1 is quite common, affecting an estimated 1 out of 2,600 people across the world. NF1 does not discriminate. It affects all races, ethnicities and both genders equally. Symptoms range from mild to severe. Some individuals require extensive, lifelong treatment, whereas others require no treatment at all.Â
Common skin manifestations of NF1 include café-au-lait spots, which are often the first sign of the condition.
HOW IS NF1 DIAGNOSED?
A NF1 diagnosis is made by using specific diagnostic criteria.Â
A person who does not have a parent diagnosed with NF1 must meet two or more criteria. A person who has a parent diagnosed with NF must meet one or more criteria.
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The patient meets the diagnostic criteria for NF1 if they have:Â
a. One or more of the following criteria (when one parent or more has been diagnosed with NF)
b. Two or more of the following criteria (when no parent has been diagnosed with NF).Â
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Six or more café-au-lait macules (brown skin spots) of a certain diameter based on age*
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Freckling in the armpit or groin*
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Two or more neurofibromas (soft, pea-size, nerve tumors) of any type or one plexiform neurofibroma
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Optic pathway glioma (a type of tumor in the eye)
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Two or more iris Lisch nodules (colored spots on the iris of the eye) or two or more abnormalities in the choroid (the vascular layer of the eye)
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Osseous (bony) lesion such as sphenoid dysplasia, bowing of the tibia (long bone in the leg), or a fracture of a long bone that does not heal
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A pathogenic NF1 gene variant confirmed by genetic testing
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At least one of the two (café-au-lait macules or freckling) must be present on both sides of the body.
OTHER COMMON SYMPTOMS/MANIFESTATIONS
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Cancer
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Learning disabilities
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Autism
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Attention-deficit/hyperactivity disorder (ADHD)
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Motor (movement) delays, related to low muscle tone (hypotonia)
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Executive functioning challenges, including difficulties with planning, organization and working memory
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Visuospatial challenges, which may affect handwriting, math, navigation and visual organization
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Anxiety and mood concerns, including increased risk for depression and emotional regulation difficulties.
Lisch nodules are tiny benign brown growths on the iris and are one of the hallmark features of NF1.
Treatment of NF1
There is currently no cure for Neurofibromatosis Type 1 (NF1). Because NF1 affects every individual differently, treatment plans are personalized based on a person's symptoms, age, and any complications they may develop. Many individuals with NF1 require lifelong monitoring by a multidisciplinary team of specialists to detect and manage health concerns early.
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Treatment may include one or more of the following:
Regular Monitoring
Routine checkups help healthcare providers monitor growth, development, vision, blood pressure, and neurological health. MRI scans and other imaging tests may be recommended if symptoms suggest tumor growth or other complications.
MEK Inhibitor Therapy (Koselugo®/Selumetinib)
Koselugo (Selumetinib) is the first FDA-approved medication specifically for children with symptomatic, inoperable plexiform neurofibromas. This targeted therapy can help shrink certain tumors, reduce pain, and improve mobility and quality of life.
Surgery
Surgery may be recommended to remove tumors that cause pain, affect movement, interfere with organ function, or become cancerous. Some tumors cannot be safely removed because of their location.
Vision Care
Children with NF1 should receive regular eye examinations to monitor for optic pathway gliomas and other vision-related complications. Treatment may be recommended if a tumor begins affecting vision.
Physical, Occupational, and Speech Therapy
Some children benefit from therapy to improve strength, coordination, mobility, communication, and daily living skills.
Learning and Behavioral Support
Learning disabilities, ADHD, and developmental delays are common in children with NF1. Educational accommodations, tutoring, counseling, and behavioral therapy can help children succeed both academically and socially.
Pain Management
Pain related to tumors or skeletal abnormalities may be managed through medication, physical therapy, or specialized pain management programs.
Specialized Care
Because NF1 can affect many parts of the body, patients often receive care from a team of specialists, including neurologists, oncologists, ophthalmologists, geneticists, orthopedic surgeons, dermatologists, and rehabilitation specialists.
Pediatric Brain Tumors
A pediatric brain tumor is an abnormal growth of cells within a child's brain. Pediatric brain tumors are the leading cause of cancer-related death in children. They can develop in different parts of the brain and vary widely in how they grow, respond to treatment, and affect a child's daily life. Every diagnosis is unique, but all children and families deserve access to the best possible care, support, and hope.
Red Flags & Symptoms
While many pediatric brain tumors are slow-growing, it is important to watch for:Â
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changes in vision
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persistent headaches
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early puberty, or
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unexpected changes in balance and coordination
Early detection through regular screenings is key!
Diffuse Midline Glioma (DMG)
Diffuse Midline Glioma (DMG), formerly known as Diffuse Intrinsic Pontine Glioma (DIPG) when located in the brainstem, is one of the most aggressive and devastating pediatric brain tumors. These tumors arise in the brain’s midline structures, making surgical removal extremely difficult. Despite advances in medicine, treatment options remain limited — with radiation as the current standard of care — and ongoing research continues to seek more effective therapies and, ultimately, a cure.
Diffuse Intrinsic Pontine Glioma (DIPG)
Diffuse Intrinsic Pontine Glioma (DIPG) is a rare, fast-growing brain tumor that forms in the pons, an area of the brainstem responsible for essential functions such as breathing, movement, swallowing, and heart rate. Because of its location, surgery is not a treatment option, and radiation therapy is currently the standard treatment to temporarily relieve symptoms. While tremendous progress has been made in understanding DIPG, much more research is urgently needed to improve outcomes for children diagnosed with this disease.
Why Research Matters
Children diagnosed with DMG, DIPG, and other pediatric brain tumors deserve better treatment options and better outcomes. At Live Like Elias Foundation, Incorporated, we are committed to raising awareness, supporting affected families, and investing in research that brings us closer to safer, more effective therapies, and one day, a cure.
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Every donation helps fuel scientific discovery and offers hope to children and families facing these diagnoses.