Posted by: Jo
Posted: 10th Mar 2011
19chris51 says: Hi! Jo, nice to hear from you, I still fumble through this site, so you are not alone there.
Yes my Son (who is 35 yrs) has also has been diagnosed with Cerebella Atropy, he also has some sort...
Aargh, I shall never get the hang of all this modern technology. Not come across the term Pyruvate Dehdrogenase, will have to go on the net to find out. Mine is due to some form of inability to naturally absorb B12 (for which I have monthly injections) and also calcium deficiency caused by inability to absorb Vitamin D. I am now on as needed Vitamin D injections although it's such a pain for the specialist to go through (has to send all sorts of forms through to Canberra each time one is needed, justifying his ability to authorise and perform the injection - it's just a needle right? Honestly the system has a lot of pros going for it in terms of ensuring that only the genuine cases get seen to, but there's an awful lot of cons making it just so hard to get basic things done). No idea why they won't do another MRI - my specialist has had me having them every six months - now, thanks to the tumour not having changed size in over a year it's been relaxed to once every year, unless of course I feel a radical change in myself, in which case they'll get me done as soon as possible. I see a specialist in the Endocrinology Department of Royal North Shore, and he is very good - and very dedicated (the last time I was admitted so he could do a number of tests - it's much quicker to get things done as an inpatient rather than an outpatient so he simply admitted me on the spot - anyway, he came to see me at around 11:00pm at night to have a discussion [good thing I was awake!]) and he's pushed my symptoms through his colleagues around the world. He's just a bit desperate as he himself feels like he's not getting anywhere but he's certainly tried just about every possible avenue. Maybe it is as per an earlier reply to your initial query that perhaps it's so rare and affecting so few people that maybe there just isn't enough definite and similar information for anyone to make a single correct diagnosis. And as for fixing it - well, if they don't really know what they are trying to fix, I guess I can understand some reluctance in just trying anything. I know my poor guy has sometimes felt we're all clutching at straws and he really doesn't know where to go next. But at least he keeps trying and keeps seeing me every 3 months (or more often if he's not happy with the blood test results) and does regular blood tests to see whether there's some sort of pattern with certain vitamins and minerals suddenly becoming deficient and sometimes rectifying themselves with injections. Anyway, sorry for the long response. Persevere, don't give up, and most definitely push for a follow up MRI. Incidentally, I'm 47, but I was around 39 when my symptoms suddenly started appearing and causing all sorts of issues with balance, headaches, "bone aches" (for want of a better definition, vomiting and nausea and so forth. Possibly it's an age related thing due to the modern lifestyles we now live. An interesting thought. Best wishes to you and your son. Jo Reply