A few years ago I wrote a couple of blog posts about Rosie being diagnosed with Mitochondrial Complex 1 deficiency. It was a bitter blow followed by a total miracle.
Over the last few years there have been big questions about how … More Rosie in the medical history books
We did it!!! I can’t believe that three months ago, three friends consumed three bottles of wine (and a little bit more) and made the beginnings of a plan to organise a spectacular charity ball with the aim to raise over £5,000 for Muscular Dystrophy UK and I can’t believe we did it! Our grand total … More Rosie’s Charity Ball (Part 2 – the main event!)
When I sat down to write this post tonight the words to Fatboy Slim’s ‘Praise You’ immediately popped into my head … More Rosie’s 3rd birthday celebrations (Part 1)
Rosie is rare.
In fact, there are less than 50 people here in the UK with Nemaline Rod Myopathy. Less than 50. And today we are celebrating her rarity as it’s officially Rare Disease Day! … More Rosie features in Muscular Dystrophy UK’s Rare Disease Day campaign 2017!
It’s fair to say that we’ve always had concerns about Rosie’s mouth and general oral functions. You may have seen that her mouth is always open – it’s not that obvious, you’ve probably not noticed! … More Mouth matters and a blue badge of blessings
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”