So worried! reduced muscle tone, no muscle reflexes and positive Gower Sign!

[lollilou2]

just don’t know where else to turn. DS4 had paediatric appointment a few weeks ago due to concerns with his development. Mainly gross motor, he still uses a pram as he gets tired easily. Can’t jump much, can’t stand on one leg or hop and can’t climb the stairs. He also has speech delay, vision and mild hearing problems.

today we’ve got the report from paediatrics, which says he has reduced muscle tone in upper and lower limbs, they couldn’t elicit his reflexes in lower or upper limbs, and he has a positive gowers sign as he couldn’t get up off the floor without using his hands.

We’re being sent for blood tests and genetic testing but that’s a few weeks away and I just can’t stop worrying right now, what exactly are they looking for?

Hard as it is, I think you need to wait. There are a few things that they could be looking for and until they have the results of your investigations, they won't know which it is.

Thank you @Lougle. What sort of things can they be looking for? My mind automatically jumps to Muscular Dystrophy?

I think you should contact the Paeds team via secretaries and ask for a clinic letter addressed to you that describes the findings, planned tests and important diagnoses under consideration. Some are better than others at explaining the working plan in the moment, and also sometimes that stuff isn't immediately taken in anyway.

DC1 had hypotonia and Gower's sign, speech delay, gross and fine motor skills, some hyper mobility. I freaked out about muscular dystrophy too but it is very rare. Turned out DC was basically just delayed, no real idea why so delayed at the time, basically caught up late in primary. Was your DC premature or have any birth issues?

Thank you @Castlereagh. Glad your DC caught up! No, he was born at term and straight forward delivery.