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Re: NF2 genetics and diagnosis

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In a message dated 10/12/99 4:16:13 AM Eastern Daylight Time,

NF2_Crewonelist writes:

<< So while NF symptoms may show up at a different age for each

> individual, wouldn't it make sense that we are born with NF, but for

> various reasons we either are misdiagnosed until we find a doctor who

knows

> what he's talking about or the NF itself is in a dormant stage until a

> certain age for each individual? >>

Anne here.... Jim was misdiagnosed as having muscular dystrophy when he

was age 7. Even at that young age his legs began to atrophy due to nerve

damage caused by tumors.

It is my personal belief that the defective gene ( forgive the blunt term) is

present possibly even develops during conception and development before

birth. Now what " triggers " the gene to malfunction....I have not a clue as I

am not a Biologist.

It wasn't until my husband was 17yrs old and went to the Dr. himself becuz of

hearing loss, that the medical profession found the tumors growing and sent

my hubby's family to an expert neurosurgeon at Shand's Teaching Hospital in

Gainesville, FL.

I guess this could be evidence of ur theory as Jim's NF2 also appears to be a

spontaneous mutation.

Just sharing from observation.

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