dd 19months and dx so far gross motor delay hypotonic hypermobile fequent night waking elevated ck levels myoclonic jerks shuddering episodes. elevated ck levels
still none of the wiser to why but have been referred to neuro from paed for opinion along with eeg and mri. mri normal except 1 area of shadow eeg ocassional sharp spikes think the opinion is for this as dr at the hospital dd attends says it epilepsy but think paed doubting that it could be a pattern of another disorder/condition.and asked what/if she should have more tests so do/does neuro give any more of an idea as to what this is all pointing too or will they not say to us and just write back to paed and we will be told in our next apointment with paed? (jan ) just want some kind of idea, even if not dx set in stone.. just as to what we may be looking at. has anyone been in same situation and did you get told anything more when you saw the neuro? Thanks
I think if you ask neuro direct questions, they will give you the answers then and there (subject to tests), but beware, often you get the worst scenario. We got the worst-scenario answers in the apointment (years ago), but searching far and wide, we have reversed some issues that were stated as progressive, permanent and irreversible. Even on the neuro front you will find a lot of "anecdotal" evidence that all is not completely bleak. As my late mum was saying for many years, drs don't know everything.. it took me about 10 years to realise that, but I am glad I did.
Our dd had problems first diagnosed at 3 months. we were sent to various drs at top London tertiary referral hospital. we got no diagnosis i had any faith in so we just went home, had some physio, and got on with life as normal. When she was nearly two we asked to see a different neurologist at a west country hospital (we had moved out of London). He took one look at our daughter and said he thought she had a neuromuscular disorder and recommended a muscle biopsy. He proved to be correct. Do NOT believe anything a dr says if you think it does not feel right, amazing how we mothers do know about our own children, and keep asking for second opinions. Keep a notebook just for your child's medical/physio/social services stuff (I am on my fourth now and she is 11) as you will constantly be asked for dates and background info which you cannot remember without prompts. My dh always says just before we see yet another doc, "remember, half of all docs are below average..." sort of comforting, sometimes! Good luck.
thanks nightcat & cloelia, Best i ask direct then, did try that with paed. she started to tell me about another child who after years of tests just has hypermobilty syndrome so not to worry ? i thought if thats the best she can offer what is really wrong. my friends ds has hypermobility syndrome and is often in pain and cannot walk very far so does use wheelchair when he becomes tierd. I thought it was quite a odd thing for her to have said? honestly i really have prepaired myself to take whatever it is,just would like to have a name for it IYKWIM.
from bits she was saying sounded like she was implying neuromuscular disorder. when i asked if it was she replied "could be"
cloelia my dd does have elevated ck levels is this normally the case in muscle disorders? Thanks