Originally Posted by LouLou1978

Hi All,

I need some help from one of you experts out there.

I have NLD SFN confirmed by skin biopsy showing increased nerve fibers. I am 38 and my sister is 35. She has been backwards and forwards to neurology over the last 3 years with complaints saying she has very hot feelings on her skin. She says these are not painful. They are not similar to my symptoms.

She has seen about 4 different neurologists and they have all said she is fine (one of them is my neuro). However, the last one, due to the fact I have confirmed SFN, has referred her to the Professor in London who carries out the skin biopsies here in the UK.

The neurologist she has just seen has told her that it is pointless going to get the biopsy done as there is nothing they can do about it as it will be hereditary.

Can anybody explain to me how this can be correct? My mother and father have never had any such issues or SFN? I know you can have a genetic mutation that can happen , but surely it wouldn't have happened in both of us both at the same time? Is this possible?

My sister is a hypochondriac, so not sure if this is part of it, but these 'hot' feelings she talks about on and off, she doesn't say it is like sunburn, just like her back has been on a radiator and gets very hot.

Is this more likely to be some sort of toxic exposure that we would both have had a genetic susceptibility too? It just doesn't make sense that we could both have it, both at the same time, if our parents or nobody in our family has?

I'm now very annoyed with her neuro , as it is extremely distressing to think it could be possibly passed onto my children.

I would be really grateful if anybody has any knowledge of genetics could explain and hopefully put my mind at rest?

Thanks

Loulou