You may ask what is neurofibromatosis?
Neurofibromatosis affects all neural crest cells (Schwann cells, melanocytes, endoneurial fibroblast). Elements from these cells proliferate in excess throughout the whole body, resulting in the formation of tumors, and abnormal function of melanocytes, causing disordered skin pigmentation. Melanocytes are pigment-producing cells in the skin, hair, and eye that determine their color. The tumors may also cause bumps under the skin, colored spots, bone problems, pressure on spinal nerve roots, as well as other neurological problems.
Neurofibromatosis may affect the bones, causing severe pain. Some patients experience learning difficulties, behavioural problems, and vision and/of hearing loss. there is no cure for the disease.
Type 1 neurofibromatosis (Nf1)- or von Recklinghausen's disease, von Recklinghausen NF, or peripheral neurofibromatosis. It is transmitted on chromosome 17 and is mostly caused by mutation (rather than deletion) of the Nf1 gene.
Shortly after birth several birthmarks (hyperpigmentation) may appear in different parts of the body. During late childhood cutaneous lesions (tumors on the skin) and subcutaneous lesions (tumors under the skin) may appear, from a few thousands. There is a slight risk that the tumors become cancerous. For some patients this is presents no serious medical problems apart from a skin condition. However, complications are possible, and sometimes serious.
type 2 neurofibromatosis (Nf2)- or bilateral neurofibromatosis. IT results mainly from a mutation (rather than a deletion) of the Nf2 gene and is transmitted on chromeosome 33.
Tumors form in the vervous system, generally within the skull, known as intracranial tumors. Tumors also develop in the spinal canal, known as intraspinal tumors. Acoustic neuromas are common - these develop on the vestibulocochlear nerve (the eighth cranial nerve) The vestibulocochlear nerve is responsible for our sense of hearing, it is also important for our sense of balance and body position. Patients may experience hearing loss, as well as losing their sense of balance. Symptoms tend to occur during late teens and early 20's. Tumors may also become cancerous.
Schwannomatosis- this is a much rarer form of neurofibromatosis that has only recently been recognized. It is genetically distinct from Nf1 and Nf2. According to the National Institute of Neurological Disorders and Stroke, USA, schwannomatosis accounts for about 15% of the inherited forms of neurofibromatosis. Patients develop schwannomas (tumors in the tissue around a nerve) anywhere in the body, except fot the vestibulocochlear nerve (the nerve that goes to the ear). The tumors can cause severe pain, numbness, tingling, and/or weakness in the toes and fingers. Patients do not develop the neurofibromas seen in Nf1 and Nf2.
Researchers have identified a mutation of the SMARCB1/INI1 gene that is linked to the familial form of the disease. However, nobody yet knows what causes the severe pain which is typical in this disorder.
the reason for fundraising is because skyler will always be in and out of hospital so it will be nice to donate money so sensory toys will be donated to the local hospital and also would like to donate money to help support the Neuro foundation. i would like to raise £10.000+. If we get £10.000 i will have my hair shaved off and donate my hair for a charity who makes wigs for cancer patients.
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what is wrong with skyler and what the donation money is for.
jesamine beeney Jan 22