Tuesday, May 1, 2012

how do you pronounce neurofibromatosis...

Well, in my case it's pronounced NF2. Or, if you want to sound smarticle, it's pronounced neuro- fibroma- tosis. Type 2. May is National NF awareness so I'm going to be sharing some facts and figures and personal stories all month to help spread the word.
There is more than one kind  of NF but I'm just going to talk about the kind I have. Because it's my blog. And I'm lazy. I've mentioned the deaf thing before but never really gone into how or why. Well, this is how and why:

Neurofibromatosis Type 2 (NF2) is a genetic disorder in which affected patients develop bilateral tumors of the balance nerve called vestibular schwannomas (VS). Patients with NF2 also develop other intracranial and spinal tumors, as well as cataracts and skin tumors. Although these tumors are generally benign and non-cancerous, they can lead to a variety of severe health problems, including difficulties with hearing, vision, speech, swallowing, balance, walking, and critical thinking. Without treatment, these tumors can cause brainstem compression and can ultimately lead to death. Currently, treatment options include tumor excision using microscopic surgery techniques, gamma knife radiosurgery, or radiation therapy. Observation of these tumors as they grow is also another option. Both tumor growth and treatment can lead to a variety of devastating consequences, such as deafness, blindness, and imbalance. For these reasons, ideal management of NF2 is challenging, complex, and controversial.

I stole that from . There is more info there if you are interested. But that's the gist of it.
She left out the most important treatment option though, in my opinion. Recently, huge strides have been made in oncology-based treatments.  In other words, DRUGS, baby. At a symposium last year one of the speakers (a doctor with extensive NF experience) said the future of treatment for NF2 is going to be more and more chemo-based and less about surgical approaches. Fine with me! :)

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