Advice of possible conditions please!!!

[Georgebooboo]

Hi, my little boy is going through a number of test for muscle problems. He is 10 months old and has been described as floppy . They said his eyes are a bit droopy and he has a high palet ( I can't tell! ). Apart from him not litting his head properly or sitting he is doing really well. His fine motor skills are fab and he's eating we'll and chatting away. We obviously won't know anything until the results come through. We've been told is not duchene muscular dystrophy but three names have been mentioned . Nemaline myopothy, mini core and central core myopothy. I have looked and scared myself to death. Does anyone have experiences with these conditions and can give any advice please xxx

Someone will be along soon with some help. In the meantime, I well remember how first being told of possible diagnoses felt like a physical blow. Hang on to all the positives, he's still your precious little boy. My thoughts are with you.

My daughter has mitochondrial encephalomyopathy - not the same, but in the same family of disorders. Yes, they are all muscle diseases, but every child diagnosed follows a different path.

Best case scenario is central core - it is not progressive, neither is multuminicore - although the associated respiratory muscle issues can be significant. Nemaline is definitely scary.

While it is not an awful idea to familiarise yourself with the conditions they have mentioned, don't get it in your head that they are 100% correct until there is a diagnosis. It sounds like your team is starting at the most common (and subsequently, easiest to dagnose) and working backwards. After all this, you may discover that there is still no answer. While this can be very frustrating, it is important to remember that if he presents like a child with a myopathy, he should be treated like a child with a myopathy (even if it remains unnamed after investigations). This means PT, access to mobility support and adaptive seating/positioning early and comprehensive respiratory care/monitoring.

While I can't speak to the specifics of care in the UK (we are in Canada), if I can be of any other help, I will do what I can.

Beemom thanks for your reply.. Could I ask what symptoms you little one had and at what age and how things have changed?