Don't ignore symptoms, no matter what they are
Discussion
Title intended to be a generic thought on what I hopefully did 'right' vs others that perhaps haven't investigated something that changes or feels strange or different.
Short-ish story is that roughly 18 months or so ago I was getting problems with walking distances - cramp in legs for instance. Initially put it down to perhaps getting older, being fat and unfit. However, osteopath seemed to find 'odd' muscle responses so reinforced my thoughts that something was odd. Also something odd in blood tests going back a few years.
Via GP, a number of examinations including a muscle biopsy (1 cm cubed out of a thigh muscle) and the conclusion is that I apparently have 'Pompe disease' - thankfully not the infant version that seems very nasty but a late onset version (missed the infant version by a decade or 5!). To save any googling or guessing: is an autosomal recessive metabolic disorder which damages muscles and nerves through the build-up of glycogen. Gist is - muscles (particularly the larger ones, for instance legs) getting progressively weaker over time, hopefully the time being many years rather than somewhat shorter as indicated by, for instance, ALS that has all the ice bucket challenge stuff going on at the moment.
So, slightly oddly, getting the diagnosis was somewhat 'good' - getting a name for it is definitely good, uncertainty leads to speculation and googling - rarely a good thing at the end of the day! Prognosis whilst fundamentally 'not great' at least would appear to potentially have a shallow glide path to the less fun end of things. Looking around the web earlier suggests that it is often several years before this sort of odd/rare condition are identified, so year and a half feels like a short cut.
Not 100% sure why I've posted this other than the thread title - don't ignore things - I sadly have another variant of that story where the individual was in denial and has probably ended up in a worse state than might have been if things had been investigated earlier.
Short-ish story is that roughly 18 months or so ago I was getting problems with walking distances - cramp in legs for instance. Initially put it down to perhaps getting older, being fat and unfit. However, osteopath seemed to find 'odd' muscle responses so reinforced my thoughts that something was odd. Also something odd in blood tests going back a few years.
Via GP, a number of examinations including a muscle biopsy (1 cm cubed out of a thigh muscle) and the conclusion is that I apparently have 'Pompe disease' - thankfully not the infant version that seems very nasty but a late onset version (missed the infant version by a decade or 5!). To save any googling or guessing: is an autosomal recessive metabolic disorder which damages muscles and nerves through the build-up of glycogen. Gist is - muscles (particularly the larger ones, for instance legs) getting progressively weaker over time, hopefully the time being many years rather than somewhat shorter as indicated by, for instance, ALS that has all the ice bucket challenge stuff going on at the moment.
So, slightly oddly, getting the diagnosis was somewhat 'good' - getting a name for it is definitely good, uncertainty leads to speculation and googling - rarely a good thing at the end of the day! Prognosis whilst fundamentally 'not great' at least would appear to potentially have a shallow glide path to the less fun end of things. Looking around the web earlier suggests that it is often several years before this sort of odd/rare condition are identified, so year and a half feels like a short cut.
Not 100% sure why I've posted this other than the thread title - don't ignore things - I sadly have another variant of that story where the individual was in denial and has probably ended up in a worse state than might have been if things had been investigated earlier.
Tough break. I bet the biopsy smarted; 1cm3 out of your leg! 
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