Carpel Tunnel, or is it? (no it isn't)

Soldato
Joined
26 May 2009
Posts
21,651
A classic tale of NHS misdiagnosis, near miss injury, and what not :p

Ever since I was a child I have had a medical condition that I did not know about, this was because I just thought it was the same for everyone, whenever I would sit cross legged or lean on an elbow/knee for too long I would get a "pins and needles" sensation of numbness, it also happened when using scissors or pressing with a knife, or holding a phone to my ear for a long time. Although most people experience the same result mine lasts for hours and in the case of the scissors/knife thing usually a few days.

It wasn't until I twisted my ankle a couple of years ago and couldn't walk or move it that I my family and I realised something was up, however once the doctors confirmed that the was no muscle damage they were happy to forget about it but I wasn't as it took almost half a year to recover (and never recovered to 100%). Then one day my father was talking to his cousin and happened to mention this and he immediatly knew what it was as his daughter was diagnosed in Thailand with the same condition.

Its called Hereditary neuropathy with liability to pressure palsy (HNPP) and ill link the wiki at the end of the post, its basically an inherited genetic condition which causes the outer sheath of a nerve to be too thin causing signal degradation due to lack of insulation. (The comparison to poor quality CAT5 has been made :p). Anyway I contacted my GP about this and they referred me to the genetics dept at the local hospital who had a chat and used electrodes to test my nerves which came back irregular so I was diagnosed with a suspected case of HNPP and they did a blood test to confirm, a few months later (real world test, not CSI test :p) the results came back positive, at least now I knew what was wrong.

Your probably wondering at this point where Carpel Tunnel comes in? well at the time this was going on my father was being investigated for this by the same hospital for CT, however after my diagnosis was confirmed he took my information to see his specialist who had scheduled him for an operation for the CT, he did this because my specialist had specifically warned against surgery unless life threatening and even mentioned the effects of CT misdiagnosis.

Anyway my father showed the info to his specialist who had never heard of HNPP and immediately canceled the operation and had the electrode test performed which showed the same irregularities although much weaker (his case is much less pronounced). They are doing a blood test to confirm but its pretty academic as its a genetic condition my mother doesn't display and it appears to be on my fathers side. Had they done the operation the odds are he would have lost much or all use of his hand.

Here's the link, check it out if what I have described sounds at all familiar (or if your just interested): http://en.wikipedia.org/wiki/Hereditary_neuropathy_with_liability_to_pressure_palsy
 
Associate
Joined
20 Sep 2012
Posts
1,140
Location
Romsey, Hampshire
At least you know its all your dads fault now. too be fair as disease is not a severe it would have to be someone exeptional to pick that up. Do you have any treatment options?
 
Associate
Joined
11 Jul 2007
Posts
459
Location
Newcastle Upon Tyne
NHS nearly gave me CT surgery once, was in to get a rather annoying ganglion removed and they got the patient files mixed up, got a bit concerned when they started drawing on my wrist where they planned to cut etc and called them out on it. Good job it was local anesthetic!
 
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