skylers story living with neurofibromatosis

Update posted by jesamine beeney On Jan 22, 2015

You may ask what is neurofibromatosis?

Neurofibromatosis, also known as NF, is genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues, causing tumors (neurofibromatosis) to develop on nerves, and may cause other abnormalities. The tumors may be harmless, or may compress nerves and other tissues and cause serious damage. In some rarer cases the tumors may become cancerous.

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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This is a wonderful thing to do. You are a very brave lady, and a fantastic mum to your beautiful children. Thank you for everything you have done to help our appeal too. Big hug. Sam & James xx

Sam and James

Backed with £50.00 On Mar 06, 2015


gemma reid

Backed with £10.00 On Feb 19, 2015


Wonderful cause.. All the best xx

K Barton

Backed with £20.00 On Feb 07, 2015




Backed with £5.00 On Feb 06, 2015


Keep going Jess you are a wonderful mother and Skyler is as much bless to have you as you are to have her xxx


Backed On Jan 29, 2015 Amount Hidden


siana and john

Backed with £5.00 On Jan 29, 2015


Thinking of you x

Bianca Connelly

Backed with £15.00 On Jan 28, 2015


A worthy cause. Very best of luck with reaching your goal and all of our very best to you and Skyler xx

Carrie Sullivan

Backed with £10.00 On Jan 28, 2015


Ellen xx

Backed with £5.00 On Jan 19, 2015


Hope the money is raised for such a worthy cause.


Backed On Jan 19, 2015 Amount Hidden

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jesamine beeney

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Zoe Gibbins

Since Jan 16, 2015

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