Download - Neurofibromatosis
NeurofibromatosisBrianna Campbell
What Is It?
• Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities.
• 3%-5% of neurofibromas ever become cancerous
• Two types (N1 & N2)
Signs/Symptoms
• First appears most often in children ages 3-16
• Presence of brown café au lait spots. These distinctive spots don't hurt or itch and never progress to anything more serious than spots
• Learning Disabilities
• Bone Deformities
• Pain
• Numbness and Dizziness
• Trouble Sleeping
Causes
• Chromosome 17 produces a protein called neurofibromin. Mutation causes cell growth to go uncontrolled
• Chromosome 22 produces a protein called Merlin which also helps regulate cell growth, mutation of this causes uncontrollable cell growth
Diagnostic Findings & Expected Outcomes
• Usually diagnosed in during a Physical
• Eye, Ear, Imaging, and Genetic Testing
• Surgery
• Cancer
• Life with symptoms
Complications
• Neurological Problems
• Skeletal Problems
• Visual Difficulties
• Increase in Neurofibromas
• Cardiovascular Problems
• Cancer
• Facial Nerve Damage
• Spinal Tumors
Interventions
• Surgeries: Orthopedic, Vascular
• Height & Weight should be charted frequently, especially in children
• Examine Heart
• Check for Skeletal involvement
• Treat Symptoms
• Reproductive Counseling
• Check Skin for lesions
• Life long monitoring
• Auditory Rehabilitation (Type 2)
Medical Personnel
• Family Physician (Ph.D.)
• Pharmacist (Ph.D.)
• Cardiologist (Ph.D.)
• Audiologist (Ph.D.)
• Ophthalmologist (Ph.D.)
• Orthopedic Surgeon (Ph.D.)
• Neurologist (Ph.D.)
• Geneticist (Ph.D.)
Patient Teachings & Community Resources
• Children's Tumor Foundation
• Psychological Counseling
• Genetic & Parental Planning Counseling
• Get Involved
Interview
• How long have you had NF?
- I was diagnosed about 8 years ago
• How often do you experience symptoms?
- Most days I have so much pain in my back that its hard for me to sleep. I don’t get the brown spots on my body anymore but I still get dizzy sometimes and I think my vision is messed up because of the disease
• Do you take any medications to help your symptoms?
- I used to take a medicine to help slow down the development of tumors on my back but they made me sick to my stomach so I don’t take them anymore. I wear glasses for my eye sight, and I take pain medication every once in a while for my back. Other than that I don’t take any medicine.
• What type of doctor do you see the most often?
- I just see my regular doctor most of the time and if he has any concerns he sends me in to get an MRI.
• Have you had to have any surgeries related to this disease?
- No
• Do you have any learning disabilities?
- Not that I know of
Sources
• "KidsHealth." Neurofibromatosis. N.p., n.d. Web. 25 Dec. 2013. <http://kidshealth.org/parent/general/aches/nf.html>.
• "Living with NF." CTF. N.p., n.d. Web. 25 Dec. 2013. <http://www.ctf.org/pdf/brochures/NF1-Brochure.pdf>.
• "Patient.co.uk - Trusted medical information and support." Patient.co.uk. N.p., n.d. Web. 25 Dec. 2013. <http://www.patient.co.uk/doctor/Neurofibromatosis.htm>.
• staff, Mayo. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 3 Jan. 2013. Web. 25 Dec. 2013. <http://www.mayoclinic.com/health/neurofibromatosis/DS01185/DSECTION=symptoms>.
• Barnett, Tristan. Phone interview. 24 Dec. 2013.
• Korf, Bruce R.. Neurofibromatosis: a handbook for patients, families and health-care professionals. New York, NY [u.a.: Thieme Med. Publ. [u.a.], 1990. Print.