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My Weak Muscles

The journey of a little girl living with Nemaline Myopathy

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Tag: de novo

Rosie’s condition “de novo”

February 13, 2017

Our genetic reports came back earlier this week and we finally have results as to why Rosie was born with Nemaline Myopathy.

In November 2016 both Iain and I went to the hospital in Bristol to give blood. These were to be tested to identify whether we carried any variants of … More Rosie’s condition “de novo”

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My Weak Muscles

You’ve found the journey of an inspirational little lady called Rosie who struggles with ordinary everyday activities like sitting, eating, walking and smiling due to a severe muscle weakness disease and mitochondrial disorder. What she lacks in physical strength she sure makes up for in mind and spirit. She is a real warrior facing every day challenges with grace and humour.

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Huge thank you to the mystery sender of this delightful package! What a fabulous surprise :)
Much needed R&R this weekend!
Happy 1st birthday my little gorgeous man 💙 you certainly bring the entertainment (and a lot more noise and mess) and we wouldn't want it any other way!
CAN YOU HELP MY ROSIE CLIMB A MOUNTAIN?
Totally fallen in love with this gorgeous ball of fluff! Welcome to the family Whiskey Bob! 💙
A rare Saturday morning sleepy cuddle with his big sister ❤
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