Anyone else in the same boat

hayley_l · Jun 9, 2009 6:45PM

Isaac was 2 in April, last Sept he was referred to a paediatrician as he wasnt walking and when he was up on his feet he was always on tiptoes, the paediatricain said he had hypermobile joints and in time things would get easier for him and his joints should stiffen up a bit. Anyway we saw the paediatricaian again last week for something unrelated which in the end was fine but whilst we were there he reviewed his walking again, he is concerned that Isaac shows signs of muscle weakness and is doing something called Gowers sign which is one of the signs of Muscular dystrophy, he took some bloods for testing and thankfully he doesnot have the enzyme in his blood that breaks down muscle which means that they have ruled out the most common from of MD. What he is doing now is leaving Isaac for 6 months and if he shows significant improvement then he will discharge him, if however he doesnt show improvement and is still struggling, in particular with getting up off the floor and getting down on to the floor then he wants to do some more in depth tests for genetics and chromosome. He did say that it could be down to his joints being so mobile but even taking that into account it is not usual for a child of his age to struggle like this.

I guess what I'm asking is has anyone had any experience of this or any idea what it could be. I am worried it could be something serious but dont know if I'm worrying myself over nothing.

Thanks x

milliepop · Jun 9, 2009 6:45PM

hi we've not spoken before, but i can relate to ur story.

my oldest daughter has a rare genetic condition and one of the syptoms is hypotonia - really flexiable muscles. she has also had the test for the muscle enzyme which came back clear. its just part of her condition. she is 4 but you can still manipulate her body like a babies you can still get her legs behind her ears! she didn't walk at all until she was 2 and a half and is still struggling now. she had problems getting up off the floor ect, and still can't get upstairs on her own. all you can try to do is improve the muscle tone as much as you can. have you been refered to a physio? you might have to push for this. if your instinct tells you something is not right, then believe it. i knew from about 15 months something wasn't quite right but no one really listened as she was still in the ' normal' range for her age. but the all of a sudden she was out of the normal range and we were then on waiting lists. my lo has been seeing a physio since she was about 2 and it has just been slow and steady progress. we have been given lots of different exercises to do to improve her muscles. there has never been a massive improvement in a short space of time, just gradual improvement.

my lo also has problems with her speech due to her poor muscle tone, and is still in nappies as she can't control her muscles, i don't know if this is the case with ur lo but i know that hypotonia can cause many problems not just with walking which is why the sooner you can get help the better.

as for genetic testing ect we knew what our lo's condition was as she was diagnosed at 4 days old which although saved her life because she got the medication she needed, it didn't give us a clear prognosis for her future because the condition is so rare. there are thounsands of weird and wonderful genetic conditions out there that cause hypotonia but knowing the name of any condition ur lo might have will not necesserly give you any more answers or affect any treatment. try not to worry too much about what it could be. it could be a genetic condition or just the way his body is. i'm sure anything very serious would have been picked up by ur paed by now. if your paed was really concerned they would not suggested waiting 6 months.

hope this helps and good luck xx

Anyone else in the same boat

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