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In shock. Muscular dystrophy....

2 replies

Lofari · 13/05/2018 05:52

Hi there.
My son is 3 next month. He doesn't speak, he doesn't particularly run and has issues with stairs. Hes also had more ear infections than ive had hot dinners.
I've been fobbed off so much with my concerns over the last 18 months. Oh he's a late developer.....he will catch up.
Recently (because of a fab health visitor) people have finally started to take notice and the word autism surfaced.
Ok, finally we are getting somewhere.
Saw a paediatrician who said yes it's very likely and i would like to do a genetic blood test on him.
That's where my world has fallen apart. He had his bloods taken at 11am last Thursday and by lunchtime my doctor had been contacted with some shocking levels of CK.
He called us in and the words muscular dystrophy were mentioned and he looked so sad. He said this would explain my son's difficulties to a t
So that's where I'm at. We are waiting for a call from the urgent care team this week to discuss next steps and I can't stop crying and feel like I've been hit by a truck.....

OP posts:
dreamingofaname · 13/05/2018 11:26

Hello.
Am really sorry for the sudden shock you have had. I don't have any experience of muscular dystrophy... hopefully someone will be along soon who will be more helpful..I have a son the same age as your little one being assessed for asd. I can imagine how hard you had to fight for your son to get your concerns listened to, your hard work means he can now get support and so can you and your family.
Have you got people in RL to offer support? Be gentle with yourself and post here if you need to chat/rant/curse whatever

Soulcakequack · 14/05/2018 15:46

Lofari I’m sorry muscular dystrophy isn’t something I know about about. But I’ve recently had same blood test for my 3 year old, due to social communication difficulties and receptive language disorder.

I know how hard it is to get to the this stage and the fight it takes to get to the genetic testing stage. I’m so sorry you’ve been left with such a huge shock. I have no knowledge to share but I’m happy to listen whenever needed.

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