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Re: Genetic Counciling

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Hi June

I'm the first to be diagnosed with Nf2 in my family so I guess that makes me

a first mutation. I was in my late 30s when I found out what was wrong with

me, by then I had two children aged 16 and 19 years. My son (now 24) has

inherited the disease although is thankfully still pre symptomatic, my

daughter (now 21) has not yet been screened.

I wouldn't be surprised if the prevalence of Nf2 in the population is higher

than the statistics suggest, simply because where there is no family history

present, if the disease only manifests itself very mildly then many

individuals would surely escape diagnosis completely. This would also

explain why the literature suggests that it is not uncommon to find

previously undiagnosed acoustic neuromas during autopsies.

Maybe when the medics get better at genetic testing we might learn the truth

of the matter (or maybe not!!)

Take care

Gill McCaughey

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